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 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 6 284 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 5 150 0.000978159 0.00111034 1 1 0 FRY 10129 broad.mit.edu 37 13 32698958 32698958 + Missense_Mutation SNP T T C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr13:32698958T>C ENST00000380250.3 + 7 1158 c.662T>C c.(661-663)aTg>aCg p.M221T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACTGGCAATATGCATATTGTG 0.438000 5 201 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 6 261 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33578552 33578552 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr20:33578552C>A ENST00000262873.7 + 21 2207 c.2115C>A c.(2113-2115)aaC>aaA p.N705K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 663 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGAACCTCAACAAGCTGATGA 0.607000 4 68 0.150653 0.162242 1 1 0 SYNPO2L 79933 broad.mit.edu 37 10 75406952 75406952 + Missense_Mutation SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr10:75406952A>G ENST00000394810.2 - 4 2607 c.2458T>C c.(2458-2460)Ttt>Ctt p.F820L SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L|SYNPO2L_ENST00000372872.4_Intron NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 820 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) TGGGGGAAAAAGGGAGAGAGC 0.577000 3 147 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25023483 25023483 + Missense_Mutation SNP T T G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr22:25023483T>G ENST00000400382.1 + 12 1860 c.1105T>G c.(1105-1107)Tac>Gac p.Y369D GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25D|GGT1_ENST00000400380.1_Missense_Mutation_p.Y369D|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369D|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369D|GGT1_ENST00000406383.2_Missense_Mutation_p.Y369D|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25D|GGT1_ENST00000401885.1_Missense_Mutation_p.Y25D|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25D|GGT1_ENST00000404223.1_Missense_Mutation_p.Y25D P19440 GGT1_HUMAN gamma-glutamyltransferase 1 369 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) GATCTCCTACTACAAGCCCGA 0.627000 3 35 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128863519 128863519 + Missense_Mutation SNP A A T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr5:128863519A>T ENST00000274487.4 + 5 1292 c.1147A>T c.(1147-1149)Act>Tct p.T383S CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 383 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCTCCATGAAACTCCAGTAAG 0.308000 48 79 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875408 21875408 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chrX:21875408C>T ENST00000429584.2 + 1 1304 c.806C>T c.(805-807)gCc>gTc p.A269V MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 269 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 CGGGATTACGCCGCCATGAGA 0.498000 5 310 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116839008 116839008 + Missense_Mutation SNP A A C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr9:116839008A>C ENST00000265132.3 - 2 392 c.130T>G c.(130-132)Tgg>Ggg p.W44G NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 44 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGGTTGTACCACTTCCCATAG 0.597000 19 49 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 70 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 4 35 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24446031 24446031 + Nonsense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr6:24446031C>A ENST00000230036.1 - 19 1959 c.1849G>T c.(1849-1851)Gag>Tag p.E617* NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 617 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTCTTTTTCTCATCTCGGATG 0.532000 4 105 1 1 1 1 0 ARHGEF7 8874 broad.mit.edu 37 13 111870032 111870032 + Missense_Mutation SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr13:111870032A>G ENST00000375741.2 + 6 788 c.538A>G c.(538-540)Acc>Gcc p.T180A ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 180 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TTAGGACATGACCGATAATAG 0.378000 3 63 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102305084 102305084 + RNA SNP T T C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr15:102305084T>C ENST00000561463.1 + 0 13130 GACATCAACATGAACACCATC 0.632000 3 27 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 9040 9040 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chrM:9040C>T ENST00000361899.2 + 1 514 c.514C>T c.(514-516)Cac>Tac p.H172Y mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 ACCTACTCATGCACCTAATTG 0.443000 2 1 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336139 124336139 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr10:124336139C>T ENST00000368909.3 + 7 614 c.508C>T c.(508-510)Cgc>Tgc p.R170C DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R170C NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 170 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGATGATGTGCGCTGCTCAGG 0.587000 5 217 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 39 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114137161 114137161 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr1:114137161C>A ENST00000369615.1 + 6 1059 c.997C>A c.(997-999)Cct>Act p.P333T MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000307546.9_Missense_Mutation_p.P333T NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 333 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCCAAAGCCCCTGAAGACTG 0.368000 4 115 0.184627 0.18913 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 2 8 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121708835 121708835 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr2:121708835G>A ENST00000452319.1 + 4 331 c.271G>A c.(271-273)Ggc>Agc p.G91S GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 91 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGCCCTCAGCGGCAGCCCTGT 0.632000 6 194 0 0 1 0 0 MIR1324 0 broad.mit.edu 37 3 75679970 75679970 + RNA SNP G G T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr3:75679970G>T ENST00000408868.1 + 0 57 NR_031714.1 CTTCCCTCTGGGTACCAGACA 0.507000 7 120 0.00448238 0.00495421 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50779760 50779760 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr2:50779760C>A ENST00000404971.1 - 10 3183 c.1844G>T c.(1843-1845)tGg>tTg p.W615L NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.W575L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L|NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 575 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CACATGATACCATTCTCCATC 0.463000 5 155 0.184627 0.18913 1 1 0 LBP 3929 broad.mit.edu 37 20 37002620 37002620 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr20:37002620G>A ENST00000217407.2 + 14 1525 c.1364G>A c.(1363-1365)cGt>cAt p.R455H NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 455 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CTGCTGAAGCGTGTTCAGCTC 0.488000 28 79 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880307 100880307 + Nonsense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chrX:100880307C>A ENST00000341189.4 + 5 1204 c.338C>A c.(337-339)tCa>tAa p.S113* ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113* NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 113 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 TCCCCCAATTCAGATGATACC 0.527000 13 108 5.50884e-06 6.42698e-06 1 1 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406130 39406130 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr17:39406130G>A ENST00000334109.2 + 1 192 c.158G>A c.(157-159)cGc>cAc p.R53H NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 53 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament p.R53H(4) breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTTGCTGCCGCCCAACTTGC 0.642000 6 141 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681033 100681033 + Silent SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr7:100681033G>A ENST00000306151.4 + 3 6400 c.6336G>A c.(6334-6336)acG>acA p.T2112T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2112 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACCACGCCGGTGGCCA 0.498000 6 436 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388635 1388635 + Silent SNP T T C rs74518227 byFrequency TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr4:1388635T>C ENST00000324803.4 + 1 3296 c.336T>C c.(334-336)tgT>tgC p.C112C NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 112 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.C112C(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CGTGCCCATGTGGAGTGCCCG 0.672000 5 254 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 5 150 0.000978159 0.00112636 1 1 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 6 284 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32698958 32698958 + Missense_Mutation SNP T T C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr13:32698958T>C ENST00000380250.3 + 7 1158 c.662T>C c.(661-663)aTg>aCg p.M221T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACTGGCAATATGCATATTGTG 0.438000 5 201 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406952 75406952 + Missense_Mutation SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr10:75406952A>G ENST00000394810.2 - 4 2607 c.2458T>C c.(2458-2460)Ttt>Ctt p.F820L SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 820 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) TGGGGGAAAAAGGGAGAGAGC 0.577000 3 147 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128863519 128863519 + Missense_Mutation SNP A A T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr5:128863519A>T ENST00000274487.4 + 5 1292 c.1147A>T c.(1147-1149)Act>Tct p.T383S CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 383 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCTCCATGAAACTCCAGTAAG 0.308000 48 79 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681033 100681033 + Silent SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr7:100681033G>A ENST00000306151.4 + 3 6400 c.6336G>A c.(6334-6336)acG>acA p.T2112T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2112 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACCACGCCGGTGGCCA 0.498000 6 436 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875408 21875408 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chrX:21875408C>T ENST00000429584.2 + 1 1304 c.806C>T c.(805-807)gCc>gTc p.A269V MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 269 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 CGGGATTACGCCGCCATGAGA 0.498000 5 310 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116839008 116839008 + Missense_Mutation SNP A A C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr9:116839008A>C ENST00000265132.3 - 2 392 c.130T>G c.(130-132)Tgg>Ggg p.W44G NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 44 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGGTTGTACCACTTCCCATAG 0.597000 19 49 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 70 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33578552 33578552 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr20:33578552C>A ENST00000262873.7 + 21 2207 c.2115C>A c.(2113-2115)aaC>aaA p.N705K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 663 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGAACCTCAACAAGCTGATGA 0.607000 4 68 0.150653 0.163567 1 1 0 PLXNA1 5361 broad.mit.edu 37 3 126730864 126730864 + Missense_Mutation SNP A A C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr3:126730864A>C ENST00000251772.4 + 9 2176 c.2107A>C c.(2107-2109)Acc>Ccc p.T703P PLXNA1_ENST00000393409.2_Missense_Mutation_p.T726P Q9UIW2 PLXA1_HUMAN plexin A1 726 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.T703P(2) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) AAAACCCATCACCCTGGCCGC 0.652000 6 73 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24446031 24446031 + Nonsense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr6:24446031C>A ENST00000230036.1 - 19 1959 c.1849G>T c.(1849-1851)Gag>Tag p.E617* NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 617 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTCTTTTTCTCATCTCGGATG 0.532000 4 105 1 1 1 1 0 ARHGEF7 8874 broad.mit.edu 37 13 111870032 111870032 + Missense_Mutation SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr13:111870032A>G ENST00000375741.2 + 6 788 c.538A>G c.(538-540)Acc>Gcc p.T180A ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 180 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TTAGGACATGACCGATAATAG 0.378000 3 63 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102305084 102305084 + RNA SNP T T C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr15:102305084T>C ENST00000561463.1 + 0 13130 GACATCAACATGAACACCATC 0.632000 3 27 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 9040 9040 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chrM:9040C>T ENST00000361899.2 + 1 514 c.514C>T c.(514-516)Cac>Tac p.H172Y mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 ACCTACTCATGCACCTAATTG 0.443000 2 1 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336139 124336139 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr10:124336139C>T ENST00000368909.3 + 7 614 c.508C>T c.(508-510)Cgc>Tgc p.R170C DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R170C NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 170 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGATGATGTGCGCTGCTCAGG 0.587000 5 217 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114137161 114137161 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr1:114137161C>A ENST00000369615.1 + 6 1059 c.997C>A c.(997-999)Cct>Act p.P333T MAGI3_ENST00000307546.9_Missense_Mutation_p.P333T|MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 333 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCCAAAGCCCCTGAAGACTG 0.368000 4 115 0.184627 0.189617 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 2 8 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121708835 121708835 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr2:121708835G>A ENST00000452319.1 + 4 331 c.271G>A c.(271-273)Ggc>Agc p.G91S GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 91 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGCCCTCAGCGGCAGCCCTGT 0.632000 6 194 0 0 1 0 0 MIR1324 0 broad.mit.edu 37 3 75679970 75679970 + RNA SNP G G T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr3:75679970G>T ENST00000408868.1 + 0 57 NR_031714.1 CTTCCCTCTGGGTACCAGACA 0.507000 7 120 0.00448238 0.00500972 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50779760 50779760 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr2:50779760C>A ENST00000404971.1 - 10 3183 c.1844G>T c.(1843-1845)tGg>tTg p.W615L NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000406316.2_Missense_Mutation_p.W575L|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 575 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CACATGATACCATTCTCCATC 0.463000 5 155 0.184627 0.189617 1 1 0 LBP 3929 broad.mit.edu 37 20 37002620 37002620 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr20:37002620G>A ENST00000217407.2 + 14 1525 c.1364G>A c.(1363-1365)cGt>cAt p.R455H NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 455 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CTGCTGAAGCGTGTTCAGCTC 0.488000 28 79 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880307 100880307 + Nonsense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chrX:100880307C>A ENST00000341189.4 + 5 1204 c.338C>A c.(337-339)tCa>tAa p.S113* ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113* NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 113 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 TCCCCCAATTCAGATGATACC 0.527000 13 108 5.50884e-06 6.75277e-06 1 1 0 ABCC10 89845 broad.mit.edu 37 6 43415125 43415125 + Missense_Mutation SNP A A C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr6:43415125A>C ENST00000244533.3 + 15 3959 c.3600A>C c.(3598-3600)gaA>gaC p.E1200D ABCC10_ENST00000372530.4_Missense_Mutation_p.E1228D NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1228 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGCCCCAGGAACCCCAGGGCC 0.632000 6 44 0 0 1 0 0 AC019118.2 0 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 6 11 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- AIM1 202 broad.mit.edu 37 6 106989150 106989150 + Frame_Shift_Del DEL G G - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr6:106989150delG ENST00000535438.1 + 1 122 c.58delG c.(58-60)gafs p.G20fs AIM1_ENST00000369066.3_Intron Q9Y4K1 AIM1_HUMAN absent in melanoma 1 463 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) gtcagctcttggaactgcttt 0.438 2 4 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- SGK223 0 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 11 43 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48866910 48866910 + Frame_Shift_Del DEL T T - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr8:48866910delT ENST00000314191.2 - 5 552 c.496delA c.(496-498)tafs p.I166fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTATCTGGTATTTTTTTTTTC 0.264 Non-homologous end-joining 2 4 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 9 13 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 8 68 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 7 65 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89876827 89876828 + In_Frame_Ins INS - - TGCTGC rs41550117 TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr15:89876827_89876828insTGCTGC ENST00000268124.5 - 2 491_492 c.158_159insGCAGCA c.(157-159)cca>cGCAGCAca p.53_53P>RST POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RST NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 53 Poly-Gln. base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) gaggctgctgttgctgctgctg 0.693 DNA polymerases (catalytic subunits) 9 24 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33044257 33044259 + In_Frame_Del DEL GCT GCT - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr21:33044257_33044259delGCT ENST00000286835.7 - 20 3279_3281 c.2897_2899delAGC c.(2896-2901)cca>c p.QP966del SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 966 Poly-Gln. nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GATGGTGgtggctgctgctgctg 0.581 9 214 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327903 16327904 + In_Frame_Ins INS - - TGA rs3817753 TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr6:16327903_16327904insTGA ENST00000244769.4 - 8 1574_1575 c.638_639insTCA c.(637-639)cca>cTCAca p.213_213P>LT ATXN1_ENST00000436367.1_In_Frame_Ins_p.213_213P>LT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 213 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgctgatgctg 0.668 8 11 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48866910 48866910 + Frame_Shift_Del DEL T T - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr8:48866910delT ENST00000314191.2 - 5 552 c.496delA c.(496-498)tafs p.I166fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTATCTGGTATTTTTTTTTTC 0.264 Non-homologous end-joining 2 4 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 8 68 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 7 65 --- --- --- --- KTN1-AS1 0 broad.mit.edu 37 14 56014150 56014151 + RNA INS - - A rs72454346 TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr14:56014150_56014151insA ENST00000554558.1 - 0 364 aacactgtctcaaaaaaaaaaa 0.460 3 4 --- --- --- --- MIR381HG 0 broad.mit.edu 37 14 101514904 101514907 + RNA DEL GTGT GTGT - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr14:101514904_101514907delGTGT ENST00000553692.1 + 0 28 CACCTCTGGGgtgtgtgtgtgtgt 0.471 3 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 5 7 --- --- --- --- CTB-134H23.3 0 broad.mit.edu 37 16 29118702 29118704 + RNA DEL AGC AGC - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr16:29118702_29118704delAGC ENST00000562618.1 - 0 328_330 RRN3P2_ENST00000564580.1_RNA GCCAGGTCCAagcagcagcagca 0.660 2 4 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 8 17 --- --- --- ---