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 SPICE1 152185 broad.mit.edu 37 3 113207801 113207801 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr3:113207801T>C ENST00000295872.4 - 7 861 c.602A>G c.(601-603)aAt>aGt p.N201S NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 201 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 CCTGTCTGTATTCGTGTTAGA 0.358000 3 153 0 0 0.115264 0 0 SRRM2 23524 broad.mit.edu 37 16 2807800 2807800 + Missense_Mutation SNP G G T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr16:2807800G>T ENST00000301740.8 + 4 918 c.369G>T c.(367-369)caG>caT p.Q123H NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 123 Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGACTCACCAgttggcagaat 0.443000 42 97 1.76056e-25 2.05398e-25 0.859065 1 0 PRDM9 56979 broad.mit.edu 37 5 23524563 23524563 + Nonsense_Mutation SNP T T A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr5:23524563T>A ENST00000296682.3 + 10 1253 c.1071T>A c.(1069-1071)taT>taA p.Y357* NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 357 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGGTCTGGTATGGGGATGAAT 0.507000 HNSCC(3;0.000094) 10 128 0 0 0.387290 0 0 DCUN1D4 23142 broad.mit.edu 37 4 52777312 52777312 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr4:52777312T>C ENST00000334635.5 + 9 872 c.692T>C c.(691-693)cTt>cCt p.L231P DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381441.3_Intron NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 231 DCUN1. endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) ATCTGGCCCCTTTTTCCAGTT 0.383000 3 156 0 0 0.115264 0 0 OR10K1 391109 broad.mit.edu 37 1 158436162 158436162 + Missense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr1:158436162G>A ENST00000289451.2 + 1 891 c.811G>A c.(811-813)Gac>Aac p.D271N NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTCAAGCCAAGACACCCTAAT 0.418000 4 137 0 0 0.217242 0 0 OR10H2 26538 broad.mit.edu 37 19 15839268 15839268 + Missense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr19:15839268C>T ENST00000305899.3 + 1 435 c.415C>T c.(415-417)Cgg>Tgg p.R139W NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R139W(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CATGAGCCCACGGGGCTGCGC 0.637000 4 89 0 0 0.184627 0 0 DNAH6 1768 broad.mit.edu 37 2 84811124 84811124 + Splice_Site SNP T T A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr2:84811124T>A ENST00000389394.3 + 15 2368 c.2229_splice c.e15-1 p.I744_splice DNAH6_ENST00000398278.2_Splice_Site_p.I744_splice|DNAH6_ENST00000237449.6_Splice_Site_p.I744_splice NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 744 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TCCATTTAGATTGAAAGCCTT 0.373000 18 71 0 0 0.608945 0 0 SPR 6697 broad.mit.edu 37 2 73115548 73115548 + Missense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr2:73115548G>A ENST00000234454.5 + 2 483 c.410G>A c.(409-411)aGc>aAc p.S137N SPR_ENST00000498749.1_Splice_Site NM_003124.4 NP_003115.1 P35270 SPRE_HUMAN sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 137 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity lung(4)|ovary(2) 6 CTGACTTCCAGCGTCCTGAAG 0.562000 OREG0014704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 102 0 0 0.693898 0 0 COL9A1 1297 broad.mit.edu 37 6 70964879 70964879 + Missense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:70964879C>T ENST00000357250.6 - 23 1743 c.1585G>A c.(1585-1587)Ggt>Agt p.G529S COL9A1_ENST00000370499.4_Missense_Mutation_p.G286S|COL9A1_ENST00000320755.7_Missense_Mutation_p.G286S|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 529 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCAGGGAGACCAGGAATTCCT 0.423000 33 218 0 0 0.796494 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11403 11403 + Nonsense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chrM:11403G>A ENST00000361381.2 + 1 644 c.644G>A c.(643-645)tGa>tAa p.215_215ins* mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 ACTCCACTTATGACTCCCTAA 0.443000 272 3 0 0 0.870114 0 0 MYBPC2 4606 broad.mit.edu 37 19 50940753 50940753 + Nonsense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr19:50940753C>T ENST00000357701.5 + 6 538 c.487C>T c.(487-489)Cag>Tag p.Q163* NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 163 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGCCTCTGGGCAGAGTCTAGA 0.587000 5 11 0 0 0.248553 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157885 26157885 + Missense_Mutation SNP C C A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chrX:26157885C>A ENST00000325250.1 + 2 970 c.783C>A c.(781-783)aaC>aaA p.N261K NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 261 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AAGTGCCCAACAGTGATCCTC 0.488000 3 44 0.00909568 0.0103248 0.150653 1 0 HSP90B1 7184 broad.mit.edu 37 12 104336889 104336889 + Missense_Mutation SNP A A G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr12:104336889A>G ENST00000299767.5 + 13 1864 c.1682A>G c.(1681-1683)aAg>aGg p.K561R NM_003299.1 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 561 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) CTTCTGAAAAAGGGCTATGAA 0.418000 4 223 0 0 0.184627 0 0 ZFP57 346171 broad.mit.edu 37 6 29641302 29641302 + Missense_Mutation SNP C C A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:29641302C>A ENST00000376883.1 - 6 937 c.526G>T c.(526-528)Gtt>Ttt p.V176F ZFP57_ENST00000376881.3_Missense_Mutation_p.V176F|ZFP57_ENST00000488757.1_Missense_Mutation_p.V196F Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 112 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GGATTGTGAACAAACTGGTGG 0.542000 3 114 0.150653 0.154328 0.150653 1 0 ECE1 1889 broad.mit.edu 37 1 21573852 21573852 + Missense_Mutation SNP A A G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr1:21573852A>G ENST00000415912.2 - 9 1102 c.977T>C c.(976-978)tTg>tCg p.L326S ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Missense_Mutation_p.L342S|ECE1_ENST00000374893.6_Missense_Mutation_p.L342S|ECE1_ENST00000357071.4_Missense_Mutation_p.L330S|ECE1_ENST00000264205.6_Missense_Mutation_p.L339S NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 342 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GGCGGGTGCCAAGGTCTGCAA 0.532000 3 96 0 0 0.184627 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3880 3880 + Missense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chrM:3880G>A ENST00000361390.2 + 1 574 c.574G>A c.(574-576)Gag>Aag p.192_192insK mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 CCACACTAGCAGAGACCAACC 0.512000 206 161 0 0 0.870114 0 0 ZNF267 10308 broad.mit.edu 37 16 31925925 31925925 + Missense_Mutation SNP A A G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr16:31925925A>G ENST00000300870.10 + 4 564 c.355A>G c.(355-357)Agg>Ggg p.R119G ZNF267_ENST00000394846.3_3'UTR|RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 119 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 AAGGTGGAAAAGGGAGGAGTG 0.378000 3 142 0 0 0.115264 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802299 109802299 + Missense_Mutation SNP T T C rs141429160 TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:109802299T>C ENST00000230122.3 - 2 1098 c.931A>G c.(931-933)Atc>Gtc p.I311V NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) CTCTGGTGGATTGCTAAAAAG 0.458000 7 268 0 0 0.307466 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15511 15511 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chrM:15511T>C ENST00000361789.2 + 1 765 c.765T>C c.(763-765)aaT>aaC p.255_255insN mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 GACCCAGACAATTATACCCTA 0.468000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 127 218 0 0 0.870114 0 0 MEPCE 56257 broad.mit.edu 37 7 100028454 100028454 + Missense_Mutation SNP G G C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr7:100028454G>C ENST00000310512.2 + 1 1201 c.813G>C c.(811-813)caG>caC p.Q271H MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 271 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCACCACCAGCAGCAGCAGG 0.647000 5 289 0 0 0.217242 0 0 BAP1 8314 broad.mit.edu 37 3 52443600 52443600 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr3:52443600T>C ENST00000460680.1 - 3 563 c.92A>G c.(91-93)gAg>gGg p.E31G BAP1_ENST00000296288.5_Missense_Mutation_p.E31G NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 31 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.E31A(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GTCGTAGATCTCCTCCACTTG 0.617000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 9 493 0 0 0.335167 0 0 OR51M1 390059 broad.mit.edu 37 11 5410737 5410737 + Missense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr11:5410737C>T ENST00000328611.3 + 1 131 c.109C>T c.(109-111)Cac>Tac p.H37Y AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 37 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCATCAAACACTGGATTTT 0.423000 10 144 0 0 0.335167 0 0 CDK12 51755 broad.mit.edu 37 17 37682293 37682293 + Missense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr17:37682293G>A ENST00000447079.4 + 13 3517 c.3484G>A c.(3484-3486)Gaa>Aaa p.E1162K CDK12_ENST00000430627.2_Missense_Mutation_p.E1162K NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1162 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TGCCCTGACGGAAGCTACTTC 0.567000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 12 38 0 0 0.387290 0 0 SRRM1 10250 broad.mit.edu 37 1 24993386 24993386 + Missense_Mutation SNP G G T rs78787676 byFrequency TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr1:24993386G>T ENST00000323848.9 + 13 2024 c.1709G>T c.(1708-1710)cGc>cTc p.R570L SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 570 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.R570L(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCTCGACGGCGCAGGACTCCC 0.557000 3 61 0.115264 0.121027 0.115264 1 0 SFMBT2 57713 broad.mit.edu 37 10 7412244 7412244 + Splice_Site SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr10:7412244T>C ENST00000361972.4 - 3 284 c.195_splice c.e3+1 p.H65_splice SFMBT2_ENST00000397160.3_Splice_Site_p.H65_splice|SFMBT2_ENST00000397167.1_Splice_Site_p.H65_splice|SFMBT2_ENST00000379713.3_Splice_Site_p.H65_splice|SFMBT2_ENST00000379711.2_Splice_Site_p.H65_splice NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 65 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TTTACATACGTGTTTGAATGA 0.473000 3 108 0 0 0.150653 0 0 POM121 9883 broad.mit.edu 37 7 72412636 72412636 + Nonsense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr7:72412636C>T ENST00000395270.1 + 14 2350 c.1309C>T c.(1309-1311)Caa>Taa p.Q437* POM121_ENST00000446813.1_Nonsense_Mutation_p.Q437*|POM121_ENST00000257622.4_Nonsense_Mutation_p.Q437*|POM121_ENST00000358357.3_Nonsense_Mutation_p.Q437*|POM121_ENST00000434423.2_Nonsense_Mutation_p.Q702* NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 702 Pore side (Potential).|Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CGCCCCCAAGCAAAGCTTCCT 0.597000 5 113 0 0 0.217242 0 0 GRIA4 0 broad.mit.edu 37 11 105795388 105795388 + Silent SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr11:105795388C>T ENST00000393127.2 + 12 2186 c.1740C>T c.(1738-1740)gaC>gaT p.D580D GRIA4_ENST00000530497.1_Silent_p.D580D|GRIA4_ENST00000525187.1_Silent_p.D580D|GRIA4_ENST00000282499.5_Silent_p.D580D NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 580 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AGCCAGAGGACGGAAAGGAAG 0.473000 9 53 0 0 0.335167 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787521 109787521 + Missense_Mutation SNP G G C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:109787521G>C ENST00000230122.3 - 7 1794 c.1627C>G c.(1627-1629)Caa>Gaa p.Q543E NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) GTAGAGAGTTGATATGGCTGT 0.448000 5 177 0 0 0.278610 0 0 BTBD7 55727 broad.mit.edu 37 14 93717850 93717850 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr14:93717850T>C ENST00000334746.5 - 8 2208 c.1901A>G c.(1900-1902)aAc>aGc p.N634S BTBD7_ENST00000554565.1_Missense_Mutation_p.N283S|BTBD7_ENST00000393170.2_Missense_Mutation_p.N208S NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 634 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTGACTGGTTGCTGCTGAT 0.418000 40 239 0 0 0.859065 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 5 179 0 0 0.278610 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20621386 20621386 + Missense_Mutation SNP G G T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr20:20621386G>T ENST00000202677.6 - 6 651 c.509C>A c.(508-510)aCa>aAa p.T170K NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 170 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TGTCTCCAGTGTGCAAGGGCC 0.468000 3 116 0.115264 0.121027 0.115264 1 0 RMND1 55005 broad.mit.edu 37 6 151726916 151726916 + Missense_Mutation SNP T T G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:151726916T>G ENST00000367303.4 - 11 1378 c.1256A>C c.(1255-1257)cAc>cCc p.H419P RMND1_ENST00000336451.3_Missense_Mutation_p.H208P NM_017909.2 NP_060379.2 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog (S. cerevisiae) 419 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) CTCATTCAGGTGATTCCGCAT 0.373000 10 43 0 0 0.361761 0 0 MROH2B 133558 broad.mit.edu 37 5 41065518 41065518 + Missense_Mutation SNP C C A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr5:41065518C>A ENST00000399564.4 - 4 726 c.276G>T c.(274-276)atG>atT p.M92I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTACTTCATACATCACAGAGT 0.418000 3 79 0.115264 0.121027 0.115264 1 0 CCDC74B-AS1 0 broad.mit.edu 37 2 130893081 130893082 + RNA DEL AA AA - TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr2:130893081_130893082delAA ENST00000427638.1 + 0 542_543 NR_033903.1 actccatctcaaaaaaaaaaaa 0.559 2 4 --- --- --- --- LINC00620 0 broad.mit.edu 37 3 13716891 13716891 + RNA DEL C C - TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr3:13716891delC ENST00000419618.1 + 0 113 LINC00620_ENST00000438915.1_RNA NR_027103.1 ACATAATCAGCCCCCCCGGCC 0.592 2 4 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151970890 151970891 + Frame_Shift_Ins INS - - T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr7:151970890_151970891insT ENST00000355193.2 - 7 1129_1130 c.911_912insA c.(910-912)catfs p.H304fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.H304fs lysine (K)-specific methyltransferase 2C AATGATACATCTGGGTACATTT 0.436 7 318 --- --- --- --- RP11-958J22.1 0 broad.mit.edu 37 11 45536103 45536103 + RNA DEL T T - TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr11:45536103delT ENST00000533315.1 - 0 490 TTGTTGTACCTTTTTTTAAGC 0.378 2 4 --- --- --- --- POLD3 10714 broad.mit.edu 37 11 74336608 74336609 + Frame_Shift_Ins INS - - A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr11:74336608_74336609insA ENST00000263681.2 + 8 1018_1019 c.889_890insA c.(889-891)aaafs p.K297fs POLD3_ENST00000532497.1_Frame_Shift_Ins_p.K191fs|POLD3_ENST00000527458.1_Frame_Shift_Ins_p.K258fs NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 297 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) GCTGCAGAAGGAAAAAAAAAGG 0.460 7 57 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 6 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 6 3 --- --- --- --- PIEZO1 9780 broad.mit.edu 37 16 88789666 88789667 + In_Frame_Ins INS - - CCTGCT rs143959641 by1000genomes TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr16:88789666_88789667insCCTGCT ENST00000301015.9 - 32 4651_4652 c.4405_4406insAGCAGG c.(4405-4407)aag>AGCAGGaag p.1468_1469insSR NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 1468 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 TTCCTGCCTTGCCTGCTCCTGC 0.693 3 4 --- --- --- --- LSR 51599 broad.mit.edu 37 19 35753538 35753540 + In_Frame_Del DEL TGC TGC - TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr19:35753538_35753540delTGC ENST00000602122.1 + 4 1295_1297 c.808_810delTGC c.(808-810)del p.C272del LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_In_Frame_Del_p.C291del|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_In_Frame_Del_p.C272del|LSR_ENST00000347609.4_In_Frame_Del_p.C254del|LSR_ENST00000597933.1_3'UTR Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 291 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCGCACACTTGCTGCTGCTACG 0.621 8 143 --- --- --- --- CTC-512J12.4 0 broad.mit.edu 37 19 44915710 44915710 + RNA DEL C C - TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr19:44915710delC ENST00000588655.1 - 0 488 tactctccaaccacgcccaga 0.542 3 3 --- --- --- --- TXLNG2P 0 broad.mit.edu 37 Y 21758004 21758005 + RNA DEL AG AG - TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chrY:21758004_21758005delAG ENST00000253320.4 + 0 3085_3086 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 GAAAGACATCAGAGAGAGAGAG 0.347 2 4 --- --- --- ---