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 MUC16 94025 broad.mit.edu 37 19 9073638 9073638 + Missense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr19:9073638C>T ENST00000397910.4 - 3 14011 c.13808G>A c.(13807-13809)cGa>cAa p.R4603Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4605 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R4603Q(3)|p.R236Q(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTTCTCTTTTCGTCCAGCAGT 0.502000 5 71 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013055 75013055 + Silent SNP A A T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr15:75013055A>T ENST00000379727.3 - 7 1512 c.1314T>A c.(1312-1314)gcT>gcA p.A438A CYP1A1_ENST00000567032.1_Silent_p.A438A|CYP1A1_ENST00000395049.4_Silent_p.A409A|CYP1A1_ENST00000395048.2_Silent_p.A438A P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 438 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CCTTGTCGATAGCACCATCAG 0.527000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 6 283 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6224992 6224992 + Silent SNP T T C TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr6:6224992T>C ENST00000264870.3 - 7 1165 c.900A>G c.(898-900)ctA>ctG p.L300L NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 300 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGTATTCCAATAGAATGTCAA 0.478000 5 254 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180053141 180053141 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr5:180053141G>A ENST00000261937.6 - 9 1306 c.1228C>T c.(1228-1230)Cgc>Tgc p.R410C FLT4_ENST00000502649.1_Missense_Mutation_p.R410C|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R410C NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 410 Ig-like C2-type 4. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTGATGTTGCGCCTCAGGCCA 0.667000 17 197 0 0 1 0 0 CD69 969 broad.mit.edu 37 12 9913395 9913395 + Missense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr12:9913395C>T ENST00000228434.3 - 1 102 c.22G>A c.(22-24)Gta>Ata p.V8I CD69_ENST00000536709.1_Missense_Mutation_p.V8I NM_001781.2 NP_001772.1 Q07108 CD69_HUMAN CD69 molecule 8 integral to plasma membrane sugar binding|transmembrane receptor activity endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 TTCTCTGCTACGAAACAATTT 0.393000 4 174 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976470 131976470 + Silent SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr2:131976470C>T ENST00000356920.5 + 1 589 c.495C>T c.(493-495)gaC>gaT p.D165D PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.D165D NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 165 ATP binding GGGACACTGACGTGAACAAGA 0.592000 16 443 0 0 1 0 0 HADH 3033 broad.mit.edu 37 4 108953498 108953498 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr4:108953498G>A ENST00000403312.1 + 7 944 c.902G>A c.(901-903)gGt>gAt p.G301D HADH_ENST00000603302.1_Missense_Mutation_p.G242D|HADH_ENST00000454409.2_Intron|HADH_ENST00000510728.1_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000505878.1_Intron NM_001184705.2 NP_001171634.2 Q16836 HCDH_HUMAN hydroxyacyl-CoA dehydrogenase 236 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 15 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) CAAACGTGTGGTGATTCTAAC 0.423000 8 358 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 977124 977124 + Missense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr11:977124C>T ENST00000448903.2 + 5 644 c.503C>T c.(502-504)gCg>gTg p.A168V AP2A2_ENST00000332231.5_Missense_Mutation_p.A168V|AP2A2_ENST00000534328.1_Missense_Mutation_p.A168V NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 168 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) AAGCAGAGCGCGGCCCTGTGC 0.612000 4 81 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75107127 75107127 + Missense_Mutation SNP C C A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr1:75107127C>A ENST00000326665.5 - 5 550 c.332G>T c.(331-333)aGg>aTg p.R111M NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 111 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTCAACAGACCTTCTTGTGTG 0.408000 7 105 8.12818e-05 8.50333e-05 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 98 0.014758 0.0149783 1 1 0 LZTS1 11178 broad.mit.edu 37 8 20107496 20107496 + Missense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr8:20107496C>T ENST00000381569.1 - 4 1885 c.1528G>A c.(1528-1530)Gag>Aag p.E510K LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K|LZTS1_ENST00000522290.1_Intron Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 510 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TCCCGCAGCTCGGCCCGCAGC 0.701000 4 154 0 0 1 0 0 TLDC2 140711 broad.mit.edu 37 20 35504580 35504580 + Translation_Start_Site SNP G G C TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr20:35504580G>C ENST00000217320.3 + 1 47 c.3G>C c.(1-3)atG>atC p.M1I TLDC2_ENST00000602922.1_Start_Codon_SNP_p.M1I NM_080628.1 NP_542195.1 TBC/LysM-associated domain containing 2 ACAGGAGAATGAGAGGCCTCC 0.617000 7 284 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 4 35 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 113 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26094758 26094758 + Missense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr17:26094758C>T ENST00000313735.6 - 18 2373 c.2140G>A c.(2140-2142)Gac>Aac p.D714N NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 714 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GGCTGTGAGTCCTGCACGAGC 0.557000 8 65 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50682700 50682700 + Silent SNP T T C TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr22:50682700T>C ENST00000439308.2 - 1 681 c.189A>G c.(187-189)aaA>aaG p.K63K TUBGCP6_ENST00000248846.5_Silent_p.K63K NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 63 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCGCTGGTAGTTTTGACATGT 0.522000 14 165 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99413924 99413924 + Silent SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr2:99413924C>T ENST00000397899.2 - 8 2824 c.2493G>A c.(2491-2493)cgG>cgA p.R831R NM_207362.2 NP_997245.2 KIAA1211-like p.R831R(1) TCCGCTTCTGCCGAGTGACGG 0.612000 5 205 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176310790 176310790 + Silent SNP G G A rs140261586 byFrequency TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr5:176310790G>A ENST00000292432.5 - 15 2125 c.2034C>T c.(2032-2034)tgC>tgT p.C678C NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 678 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCTATCTCGCAACGGGGGT 0.547000 6 142 0 0 1 0 0 ZNF789 285989 broad.mit.edu 37 7 99084225 99084225 + Missense_Mutation SNP A A C TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr7:99084225A>C ENST00000331410.5 + 5 662 c.392A>C c.(391-393)aAg>aCg p.K131T ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAGTTACATAAGTGTAAAGAA 0.368000 25 161 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158151489 158151489 + Silent SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr1:158151489C>T ENST00000368171.3 + 3 805 c.306C>T c.(304-306)ttC>ttT p.F102F NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 102 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) TGAAGGAATTCGCCAAAATGC 0.557000 9 133 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577790 16577790 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr1:16577790G>A ENST00000375592.3 - 10 1745 c.1529C>T c.(1528-1530)tCc>tTc p.S510F NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 510 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ATTACTACTGGAAGCGGGTTT 0.483000 17 161 0 0 1 0 0 TNK1 8711 broad.mit.edu 37 17 7286330 7286330 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr17:7286330G>A ENST00000570896.1 + 3 531 c.85G>A c.(85-87)Gag>Aag p.E29K TNK1_ENST00000576812.1_Missense_Mutation_p.E29K|TNK1_ENST00000311668.2_Missense_Mutation_p.E29K Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 29 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) CATCCTTGAGGAGCTTAATGT 0.597000 6 100 0 0 1 0 0 IGHA1 0 broad.mit.edu 37 14 106173748 106173748 + RNA SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr14:106173748G>A ENST00000390547.2 - 0 818 GGTACTTCTCGCGGGGCAGCT 0.662000 16 153 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37132662 37132662 + Missense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr14:37132662C>T ENST00000361487.6 + 2 790 c.565C>T c.(565-567)Ccg>Tcg p.P189S PAX9_ENST00000554201.1_Missense_Mutation_p.P2S|PAX9_ENST00000402703.2_Missense_Mutation_p.P189S P55771 PAX9_HUMAN paired box 9 189 Interaction with KDM5B. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GGTGGCCATGCCGCGCACCTG 0.682000 4 117 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 95 0 0 1 0 0 TRA2A 29896 broad.mit.edu 37 7 23561395 23561395 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr7:23561395G>A ENST00000297071.4 - 2 317 c.101C>T c.(100-102)tCa>tTa p.S34L TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) 34 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 ACGAGATCCTGACCTGCTCTC 0.418000 4 140 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 140 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47857211 47857211 + Nonsense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr11:47857211G>A ENST00000378460.2 - 7 1139 c.1093C>T c.(1093-1095)Cga>Tga p.R365* NUP160_ENST00000528071.1_Nonsense_Mutation_p.R251*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R251* NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 365 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 ACCTGTCCTCGTTTTGGTGCA 0.448000 10 122 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623156 21623156 + Silent SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr14:21623156C>T ENST00000304418.3 - 1 1066 c.1029G>A c.(1027-1029)ttG>ttA p.L343L NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 343 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) CCTTGTTTCTCAAAGAGTACA 0.463000 19 133 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 141 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 4 41 0 0 1 0 0 ZNF417 147687 broad.mit.edu 37 19 58423500 58423500 + Missense_Mutation SNP G G C TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr19:58423500G>C ENST00000312026.5 - 2 255 c.91C>G c.(91-93)Ctt>Gtt p.L31V ZNF417_ENST00000536263.1_5'UTR|ZNF417_ENST00000595559.1_Missense_Mutation_p.L30V|CTD-2583A14.9_ENST00000602124.1_5'UTR NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) TCACTAAGAAGACACCACTCC 0.507000 9 212 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 4 18 2.56e-06 2.76317e-06 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 232 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71649963 71649963 + Missense_Mutation SNP C C A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr2:71649963C>A ENST00000409544.1 + 22 3949 c.3319C>A c.(3319-3321)Cca>Aca p.P1107T ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.P1107T|ZNF638_ENST00000409407.1_Missense_Mutation_p.P47T NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1107 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GAAAAACAGTCCAATTGATGA 0.338000 4 124 0.217242 0.217242 1 1 0 PDHA2 5161 broad.mit.edu 37 4 96762205 96762205 + Nonsense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr4:96762205C>T ENST00000295266.4 + 1 967 c.904C>T c.(904-906)Cga>Tga p.R302* NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 302 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TTATCGTACACGAGAAGAAAT 0.423000 15 136 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 115 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 4 19 0 0 1 0 0 ZBTB48 3104 broad.mit.edu 37 1 6649154 6649154 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr1:6649154G>A ENST00000377674.4 + 11 2107 c.1949G>A c.(1948-1950)gGc>gAc p.G650D NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 650 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) GCCCAGGGCGGCCTGGCCTCC 0.672000 5 175 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 100 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 4 19 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38958369 38958369 + Missense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr19:38958369C>T ENST00000355481.4 + 25 3429 c.3298C>T c.(3298-3300)Cgc>Tgc p.R1100C RYR1_ENST00000359596.3_Missense_Mutation_p.R1100C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100C NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1100 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGCGAGATGCGCGTGGGCTG 0.622000 5 191 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45645337 45645337 + Missense_Mutation SNP G G A TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr5:45645337G>A ENST00000303230.4 - 2 856 c.799C>T c.(799-801)Cgt>Tgt p.R267C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 267 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CGTAATAAACGCAAGAGACTG 0.313000 7 52 0 0 1 0 0 LRRC27 80313 broad.mit.edu 37 10 134158049 134158049 + Nonsense_Mutation SNP G G T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr10:134158049G>T ENST00000392638.2 + 5 643 c.448G>T c.(448-450)Gaa>Taa p.E150* LRRC27_ENST00000368615.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.E23*|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000356571.4_Missense_Mutation_p.G130V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.E88*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.E88* Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 150 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CTGCCCTCTGGAATTCCCTCC 0.498000 12 189 3.07112e-06 3.26306e-06 1 1 0 FAM124A 220108 broad.mit.edu 37 13 51825914 51825914 + Silent SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr13:51825914C>T ENST00000322475.8 + 3 546 c.411C>T c.(409-411)caC>caT p.H137H FAM124A_ENST00000280057.6_Silent_p.H173H NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 137 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) AGCAGGTGCACGGCCGGTTCC 0.672000 4 16 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9243051 9243051 + Missense_Mutation SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr12:9243051C>T ENST00000318602.7 - 20 2804 c.2497G>A c.(2497-2499)Gcc>Acc p.A833T NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 833 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GCTAGGAAGGCGGGAGAGGCT 0.532000 12 137 0 0 1 0 0 SAMD1 90378 broad.mit.edu 37 19 14199510 14199510 + Silent SNP C C T TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr19:14199510C>T ENST00000533683.2 - 4 1400 c.1113G>A c.(1111-1113)ccG>ccA p.P371P NM_138352.1 NP_612361.1 Q6SPF0 SAMD1_HUMAN sterile alpha motif domain containing 1 477 cytoplasm|extracellular region endometrium(3) 3 Renal(1328;0.00183)|Hepatocellular(1079;0.00826) GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199) TCGCCTGCTCCGGGAATCCAG 0.567000 4 89 0 0 1 0 0 RP11-556I14.1 0 broad.mit.edu 37 4 105918247 105918247 + RNA DEL T T - rs140898060 TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr4:105918247delT ENST00000506386.1 + 0 71 ttttttttccttttttttttt 0.318 3 3 --- --- --- --- CELP 0 broad.mit.edu 37 9 135962465 135962465 + RNA DEL T T - rs63239560 TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr9:135962465delT ENST00000411440.2 + 0 972 NR_001275.2 AGGATGCCCCTGTGCCCCTCA 0.677 3 5 --- --- --- --- OR56B1 387748 broad.mit.edu 37 11 5758619 5758619 + Frame_Shift_Del DEL C C - TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr11:5758619delC ENST00000317121.3 + 1 939 c.873delC c.(871-873)atfs p.I291fs TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) ACAACATCATCCCCCCTTCCC 0.403 7 585 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 7 84 --- --- --- --- MT4 84560 broad.mit.edu 37 16 56602769 56602769 + Frame_Shift_Del DEL C C - TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr16:56602769delC ENST00000219162.3 + 3 194 c.114delC c.(112-114)tgfs p.C38fs NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 38 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 GTCCCTGCTGCCCCCCGGGCT 0.597 8 485 --- --- --- --- ANKRD24 170961 broad.mit.edu 37 19 4217746 4217746 + Frame_Shift_Del DEL G G - TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr19:4217746delG ENST00000600132.1 + 18 2865 c.2589delG c.(2587-2589)acfs p.T863fs ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.T953fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.T863fs NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 863 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CCAGGGCCACGGGGGAGCAGC 0.791 2 4 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 7 218 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58883399 58883400 + RNA INS - - T rs149794923 by1000genomes TCGA-J4-A67R-01A-21D-A30E-08 TCGA-J4-A67R-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df8a2b1-72de-4a9c-a20d-f659cefe1ed4 ecef180f-ebad-4421-8489-69ff5a12d716 g.chr20:58883399_58883400insT ENST00000432910.1 + 0 332 NR_046099.1 ggaccgggaaacagatgcttac 0.569 5 6 --- --- --- ---