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 RTEL1 51750 broad.mit.edu 37 20 62324513 62324513 + Missense_Mutation SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr20:62324513C>T ENST00000318100.4 + 30 3696 c.2869C>T c.(2869-2871)Cgg>Tgg p.R957W RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 957 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCAGTTTGTGCGGCCCCACCA 0.597000 4 246 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31328609 31328609 + Silent SNP T T C TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr22:31328609T>C ENST00000215862.4 - 24 3847 c.2484A>G c.(2482-2484)gaA>gaG p.E828E MORC2_ENST00000397641.2_Silent_p.E890E NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 890 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TGCGGAGGCATTCGGAAGTGG 0.597000 19 66 0 0 1 0 0 SLC25A48 153328 broad.mit.edu 37 5 135188391 135188391 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr5:135188391G>A ENST00000274513.5 + 4 474 c.302G>A c.(301-303)cGc>cAc p.R101H SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R47H|SLC25A48_ENST00000420621.1_Missense_Mutation_p.R101H|SLC25A48_ENST00000412661.2_Missense_Mutation_p.R101H Q6ZT89 S2548_HUMAN solute carrier family 25, member 48 101 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 AGTCCTCCCCGCACGCTGTCA 0.647000 4 184 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35549066 35549066 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr17:35549066G>A ENST00000353139.5 - 37 4862 c.4381C>T c.(4381-4383)Cgt>Tgt p.R1461C ACACA_ENST00000394406.2_Missense_Mutation_p.R1424C|ACACA_ENST00000360679.3_Missense_Mutation_p.R1366C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1346C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1424 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.R1461C(1)|p.R1366C(1) NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ATGATTGCACGAACAAAGAAC 0.478000 43 40 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135272653 135272653 + Silent SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr7:135272653A>G ENST00000285968.6 + 10 1412 c.1386A>G c.(1384-1386)gaA>gaG p.E462E NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 462 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTGCTCTAGAATATTGGTGTC 0.468000 4 74 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171605167 171605167 + Nonsense_Mutation SNP A A T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr1:171605167A>T ENST00000037502.5 - 3 1472 c.1413T>A c.(1411-1413)taT>taA p.Y471* NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 471 Olfactomedin-like. Y -> C (in GLC1A; uncertain pathogenicity). anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGCTGTACTTATAGCGGTTCT 0.488000 25 110 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890950 32890950 + RNA SNP A A G rs151263854 by1000genomes TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr16:32890950A>G ENST00000330048.5 - 0 3016 NR_003083.2 ATACACCCAGACCACCACCAC 0.637000 3 44 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54497147 54497147 + Silent SNP T T G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chrX:54497147T>G ENST00000375135.3 - 3 1261 c.528A>C c.(526-528)ccA>ccC p.P176P NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 176 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TGGGCTCCAGTGGGGGGGGCA 0.662000 4 13 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142720480 142720480 + Missense_Mutation SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr3:142720480A>G ENST00000473835.2 + 1 100 c.10A>G c.(10-12)Aaa>Gaa p.K4E U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.K4E NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 4 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 GATGGCGGACAAAACGCCAGG 0.587000 21 30 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38906790 38906790 + Silent SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr17:38906790C>T ENST00000312150.4 - 6 1077 c.1017G>A c.(1015-1017)gcG>gcA p.A339A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 339 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity p.A339A(2) endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CCTGGATCTGCGCCAGCTGCG 0.562000 23 247 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131639180 131639180 + Missense_Mutation SNP C C T rs138447716 TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr10:131639180C>T ENST00000368648.3 - 14 1534 c.1462G>A c.(1462-1464)Gcc>Acc p.A488T EBF3_ENST00000355311.5_Missense_Mutation_p.A497T NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 497 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CTGGCCATGGCGCCACTTCCA 0.547000 12 177 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122845629 122845629 + Translation_Start_Site SNP G G A rs111985493 TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr12:122845629G>A ENST00000545889.1 - 0 134 CLIP1_ENST00000358808.2_Silent_p.N294N|CLIP1_ENST00000361654.4_Silent_p.N294N|CLIP1_ENST00000540338.1_Silent_p.N294N|CLIP1_ENST00000537178.1_Silent_p.N294N|CLIP1_ENST00000302528.7_Silent_p.N294N P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GCCTCACTGCGTTGGCCTTGG 0.562000 14 91 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111417 55111417 + Silent SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr11:55111417C>T ENST00000314721.2 + 1 791 c.741C>T c.(739-741)ctC>ctT p.L247L NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TGGTTGCCCTCGTTTTTGTTC 0.398000 30 48 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45442843 45442843 + Silent SNP T T C TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr15:45442843T>C ENST00000321429.4 + 23 3239 c.2832T>C c.(2830-2832)ccT>ccC p.P944P DUOX1_ENST00000389037.3_Silent_p.P944P|DUOX1_ENST00000561166.1_Silent_p.P590P NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 944 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TGGAGGTGCCTGAAGTCATCA 0.602000 5 68 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84614572 84614572 + Missense_Mutation SNP C C A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chrX:84614572C>A ENST00000262753.4 - 4 566 c.421G>T c.(421-423)Gta>Tta p.V141L POF1B_ENST00000373145.3_Missense_Mutation_p.V141L NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 141 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GGATTTTGTACTACATATTTC 0.328000 37 53 3.03874e-20 3.03874e-20 1 1 0 OR11H4 390442 broad.mit.edu 37 14 20711005 20711005 + Missense_Mutation SNP G G A rs142720326 byFrequency TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr14:20711005G>A ENST00000315409.2 + 1 108 c.55G>A c.(55-57)Gtg>Atg p.V19M NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) AACACACATCGTGACAGAGTT 0.418000 6 64 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67203680 67203680 + Missense_Mutation SNP T T C TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr16:67203680T>C ENST00000264009.8 + 15 2436 c.1471T>C c.(1471-1473)Tcc>Ccc p.S491P HSF4_ENST00000584272.1_Missense_Mutation_p.S461P|HSF4_ENST00000521374.1_Missense_Mutation_p.S491P|HSF4_ENST00000421453.1_Missense_Mutation_p.S461P NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 491 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) AGCCAGTCCCTCCCCCTAAGA 0.662000 OREG0023873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 142 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98547852 98547852 + Silent SNP C C T rs113411331 TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr7:98547852C>T ENST00000359863.4 + 37 5489 c.5280C>T c.(5278-5280)aaC>aaT p.N1760N TRRAP_ENST00000355540.3_Silent_p.N1742N|TRRAP_ENST00000446306.3_Silent_p.N1741N NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1760 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TAGACTTCAACGACCCCAACT 0.428000 42 58 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069124 114069124 + Missense_Mutation SNP T T C TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr3:114069124T>C ENST00000462705.1 - 11 2403 c.1582A>G c.(1582-1584)Aca>Gca p.T528A ZBTB20_ENST00000464560.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T601A|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T528A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T528A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T528A NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CACTCACCTGTGTGTACGAAC 0.547000 18 165 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105452941 105452941 + Missense_Mutation SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr3:105452941A>G ENST00000264122.4 - 9 1436 c.1115T>C c.(1114-1116)cTc>cCc p.L372P CBLB_ENST00000394027.3_Missense_Mutation_p.L394P|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.L372P|CBLB_ENST00000403724.1_Missense_Mutation_p.L372P NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 372 Linker. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 AATCTTACAGAGCTGAAAAGT 0.398000 Mis S AML 20 52 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 34 41 0 0 1 0 0 NBR1 4077 broad.mit.edu 37 17 41352482 41352482 + Silent SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr17:41352482A>G ENST00000422280.1 + 17 2784 c.2325A>G c.(2323-2325)gaA>gaG p.E775E NBR1_ENST00000341165.6_Silent_p.E775E|NBR1_ENST00000389312.4_Silent_p.E775E|NBR1_ENST00000590996.1_Silent_p.E775E|NBR1_ENST00000589872.1_Silent_p.E775E|NBR1_ENST00000542611.1_Silent_p.E754E NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 775 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) CTGGGCAGGAACCAGCTGAGG 0.617000 21 19 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10386358 10386358 + Silent SNP C C G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr1:10386358C>G ENST00000377086.1 + 27 3067 c.2865C>G c.(2863-2865)ctC>ctG p.L955L KIF1B_ENST00000377081.1_Silent_p.L955L|KIF1B_ENST00000263934.6_Silent_p.L909L O60333 KIF1B_HUMAN kinesin family member 1B 955 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GATCAGATCTCTTCAGTGACG 0.532000 56 16 0 0 1 0 0 UPK3B 80761 broad.mit.edu 37 7 76141108 76141108 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr7:76141108G>A ENST00000419923.2 + 2 760 c.535G>A c.(535-537)Gga>Aga p.G179R UPK3B_ENST00000443097.2_Missense_Mutation_p.G124R|UPK3B_ENST00000448265.3_Missense_Mutation_p.G179R|UPK3B_ENST00000334348.3_Missense_Mutation_p.G124R|UPK3B_ENST00000394849.1_Missense_Mutation_p.G124R|UPK3B_ENST00000257632.5_Missense_Mutation_p.G179R Q9BT76 UPK3B_HUMAN uroplakin 3B 179 negative regulation of gene expression integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2) 8 Myeloproliferative disorder(862;0.204) GGCGGGCAGCGGAGGCGCCCC 0.706000 5 8 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71740936 71740936 + Silent SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr18:71740936C>T ENST00000269500.5 - 10 1400 c.1065G>A c.(1063-1065)ttG>ttA p.L355L FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.L431L NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 355 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) CATGTTCATCCAAAAGAGTTA 0.453000 22 199 0 0 1 0 0 PURB 5814 broad.mit.edu 37 7 44924342 44924342 + Silent SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr7:44924342G>A ENST00000395699.2 - 1 618 c.606C>T c.(604-606)ggC>ggT p.G202G NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 202 Gly-rich. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding p.G202G(1) large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 ctcccgggccgccTGCCAGCT 0.701000 11 54 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38240101 38240101 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr17:38240101G>A ENST00000450525.2 + 5 727 c.236G>A c.(235-237)cGc>cAc p.R79H THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 79 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.R79H(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TTCTTTCGCCGCACAATCCAG 0.547000 5 139 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66083061 66083061 + Missense_Mutation SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr14:66083061A>G ENST00000360689.5 + 5 2179 c.452A>G c.(451-453)gAa>gGa p.E151G FUT8_ENST00000394586.2_Missense_Mutation_p.E151G|FUT8_ENST00000394585.1_Missense_Mutation_p.E151G|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000358307.2_5'UTR NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 151 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CATGCAGATGAATTTCTTTTG 0.323000 5 113 0 0 1 0 0 MEF2B 100271849 broad.mit.edu 37 19 19260143 19260143 + Silent SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr19:19260143G>A ENST00000602424.2 - 5 876 c.150C>T c.(148-150)agC>agT p.S50S MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409224.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.S50S|MEF2B_ENST00000410050.1_Silent_p.S50S|MEF2B_ENST00000162023.5_Silent_p.S50S|MEF2B_ENST00000424583.2_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.S67S|MEF2B_ENST00000409447.2_Silent_p.S50S NM_005919.3 NP_005910.1 myocyte enhancer factor 2B breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) GGCGGTTGGCGCTGTTGAAGA 0.567000 21 35 0 0 1 0 0 ELAVL1 1994 broad.mit.edu 37 19 8038658 8038658 + Silent SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr19:8038658A>G ENST00000407627.2 - 4 510 c.381T>C c.(379-381)tcT>tcC p.S127S ELAVL1_ENST00000596459.1_Silent_p.S127S|ELAVL1_ENST00000351593.5_Silent_p.S154S|ELAVL1_ENST00000593807.1_Silent_p.S127S NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 127 RRM 2. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GCCCAAACCGAGAGAACATGT 0.602000 12 69 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237863644 237863644 + Missense_Mutation SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr1:237863644C>T ENST00000366574.2 + 65 9561 c.9244C>T c.(9244-9246)Cac>Tac p.H3082Y RYR2_ENST00000360064.6_Missense_Mutation_p.H3080Y|RYR2_ENST00000542537.1_Missense_Mutation_p.H3066Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3082 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.H3080N(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCAGTTCACTCACACCCGAAA 0.493000 6 3 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47107222 47107222 + Missense_Mutation SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chrX:47107222C>T ENST00000377107.2 + 21 3010 c.2656C>T c.(2656-2658)Cgc>Tgc p.R886C USP11_ENST00000218348.3_Missense_Mutation_p.R929C P51784 UBP11_HUMAN ubiquitin specific peptidase 11 929 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CTTCTACCAACGCCAGGACGT 0.637000 33 61 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956752 42956752 + Missense_Mutation SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr3:42956752C>T ENST00000541208.1 + 5 1556 c.1187C>T c.(1186-1188)gCc>gTc p.A396V ZNF662_ENST00000440367.2_Missense_Mutation_p.A396V|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.A422V|KRBOX1_ENST00000426937.1_Intron Q6ZS27 ZN662_HUMAN zinc finger protein 662 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TGTGGGAAGGCCTTCAGTCAG 0.428000 6 66 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204001498 204001498 + Splice_Site SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr2:204001498G>A ENST00000449802.1 + 28 4811 c.e28+1 NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TAAAACTAACGTAAGCATTTA 0.348000 5 95 0 0 1 0 0 OR1D5 8386 broad.mit.edu 37 17 2966516 2966516 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr17:2966516G>A ENST00000575751.1 - 1 385 c.386C>T c.(385-387)cCc>cTc p.P129L NM_014566.1 NP_055381.1 P58170 OR1D5_HUMAN olfactory receptor, family 1, subfamily D, member 5 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|lung(10) 11 ATAGTGGAGGGGGCAGCAGGT 0.587000 9 49 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155014235 155014235 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr1:155014235G>A ENST00000295542.1 + 8 890 c.794G>A c.(793-795)cGc>cAc p.R265H DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000423025.2_Missense_Mutation_p.R240H NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 265 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TGGTTTGACCGCAAGCATGAA 0.537000 4 147 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228557667 228557667 + Silent SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr1:228557667C>T ENST00000570156.2 + 102 22937 c.22863C>T c.(22861-22863)gcC>gcT p.A7621A OBSCN_ENST00000422127.1_Silent_p.A6664A|OBSCN_ENST00000366707.4_Silent_p.A4298A NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6664 Fibronectin type-III 4. 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) CCCCATTTGCCGGCGAGAGTG 0.627000 4 103 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 5 128 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75887015 75887015 + Missense_Mutation SNP T T C TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr13:75887015T>C ENST00000377636.3 - 13 2588 c.2242A>G c.(2242-2244)Agg>Ggg p.R748G TBC1D4_ENST00000431480.2_Missense_Mutation_p.R740G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R685G NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 748 Ser-rich. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GATGAGGTCCTTTTTCTCCCT 0.502000 3 58 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55141093 55141093 + Missense_Mutation SNP T T C TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr4:55141093T>C ENST00000257290.5 + 12 2070 c.1739T>C c.(1738-1740)cTg>cCg p.L580P FIP1L1_ENST00000507166.1_Splice_Site_p.L340_splice NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 580 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCGATGCAGCTGCCTTATGAC 0.458000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 5 72 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31422117 31422117 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr16:31422117G>A ENST00000389202.2 + 12 1323 c.1274G>A c.(1273-1275)cGc>cAc p.R425H NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 425 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGGGCCCCCCGCTACCAGCAT 0.642000 6 112 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423239 26423239 + Silent SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr22:26423239C>T ENST00000335473.7 + 43 7549 c.7299C>T c.(7297-7299)taC>taT p.Y2433Y MYO18B_ENST00000407587.2_Silent_p.Y2434Y|MYO18B_ENST00000536101.1_Silent_p.Y2433Y NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2433 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCCTCGACTACGAACGCAAGA 0.562000 52 125 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161221128 161221128 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr3:161221128G>A ENST00000327928.4 + 4 832 c.832G>A c.(832-834)Ggc>Agc p.G278S NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 278 Collagen-like 3. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 AGGCAAAAGCGGCCGTAATGG 0.542000 4 20 0 0 1 0 0 SH2D3A 10045 broad.mit.edu 37 19 6755032 6755032 + Missense_Mutation SNP T T C TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr19:6755032T>C ENST00000245908.6 - 5 1060 c.791A>G c.(790-792)gAg>gGg p.E264G SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E142G NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 264 Poly-Glu. JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 CTCTTCCTCCTCATCCTCCTC 0.622000 8 463 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24747789 24747789 + Missense_Mutation SNP G G A TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr7:24747789G>A ENST00000545231.1 - 9 1605 c.455C>T c.(454-456)gCg>gTg p.A152V DFNA5_ENST00000419307.1_Missense_Mutation_p.A152V|DFNA5_ENST00000342947.3_Missense_Mutation_p.A316V|DFNA5_ENST00000409970.1_Missense_Mutation_p.A152V|DFNA5_ENST00000409775.3_Missense_Mutation_p.A316V O60443 DFNA5_HUMAN deafness, autosomal dominant 5 316 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 AAATAGGACCGCCTGGAAGAT 0.512000 3 39 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37976813 37976813 + Frame_Shift_Del DEL A A - TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr8:37976813delA ENST00000343823.6 + 9 1188 c.879delA c.(877-879)ggfs p.G293fs ASH2L_ENST00000428278.2_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000545394.1_Frame_Shift_Del_p.G154fs|ASH2L_ENST00000250635.7_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000521652.1_Frame_Shift_Del_p.G199fs NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 293 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) GAAGCAGCGGAAAAGGACGAG 0.567 2 4 --- --- --- --- RP11-166B2.1 0 broad.mit.edu 37 16 12027545 12027545 + Frame_Shift_Del DEL G G - TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr16:12027545delG ENST00000399147.4 - 4 316 c.317delC c.(316-318)aafs p.T106fs RP11-166B2.1_ENST00000532936.1_Intron lung(2) 2 TCTTTTCTTTGTGTGCATACA 0.448 7 178 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42796882 42796883 + Frame_Shift_Ins INS - - C TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr19:42796882_42796883insC ENST00000572681.2 + 15 6132_6133 c.6064_6065insC c.(6064-6066)cccfs p.P2022fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.P1114fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P1113fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.S1117fs*34(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCCATCCCAGGCCCCCCCAAGC 0.683 """Mis, F, S""" oligodendroglioma 53 41 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43057701 43057701 + RNA DEL A A - rs71336818 TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr19:43057701delA ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 CAATTCCTGCaaaaaaaaaaa 0.468 2 4 --- --- --- --- NOVA2 4858 broad.mit.edu 37 19 46476609 46476610 + Translation_Start_Site INS - - G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81c3188d-0dd0-4959-b16e-ff7a3f07e4a9 e6228344-5da9-4635-a757-db83c5c7939c g.chr19:46476609_46476610insG ENST00000263257.5 - 0 194_195 NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) TCGGGCTCCATGGGGGGGGCCT 0.762 3 3 --- --- --- ---