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 PRDM2 7799 broad.mit.edu 37 1 14059320 14059320 + Silent SNP A A G TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr1:14059320A>G ENST00000235372.7 + 4 1030 c.174A>G c.(172-174)ccA>ccG p.P58P PRDM2_ENST00000376048.5_Silent_p.P58P|PRDM2_ENST00000311066.5_Silent_p.P58P NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 58 SET. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AATTTGGGCCATTTGTTGGTG 0.289000 3 59 0 0 0.014758 0 0 IP6K2 51447 broad.mit.edu 37 3 48732456 48732456 + Missense_Mutation SNP C C A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr3:48732456C>A ENST00000431721.2 - 3 671 c.434G>T c.(433-435)aGg>aTg p.R145M IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000446860.1_Missense_Mutation_p.R148M|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.R90M|IP6K2_ENST00000453202.1_Missense_Mutation_p.R90M|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000417896.1_Missense_Mutation_p.R90M|IP6K2_ENST00000443964.1_Missense_Mutation_p.R149M NM_001190316.1 NP_001177245.1 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 177 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CTGCCAGGGCCTTCCATGGCC 0.607000 13 24 5.50884e-06 1.1362e-05 0.093190 1 0 DNM1P47 0 broad.mit.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr15:102305092A>G ENST00000561463.1 + 0 13138 CATGAACACCATCAGCACAGC 0.632000 4 27 0 0 0.021553 0 0 TSPAN33 340348 broad.mit.edu 37 7 128801563 128801563 + Missense_Mutation SNP T T C TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr7:128801563T>C ENST00000289407.4 + 2 255 c.146T>C c.(145-147)cTa>cCa p.L49P NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 49 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 TACGCTCGGCTAATGAAGCAT 0.572000 3 175 0 0 0.115264 0 0 POU2F2 5452 broad.mit.edu 37 19 42603703 42603703 + Missense_Mutation SNP C C A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr19:42603703C>A ENST00000389341.5 - 7 543 c.477G>T c.(475-477)caG>caT p.Q159H POU2F2_ENST00000342301.4_Missense_Mutation_p.Q159H|POU2F2_ENST00000533720.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000560558.1_Missense_Mutation_p.Q120H|POU2F2_ENST00000560398.1_Missense_Mutation_p.Q181H|POU2F2_ENST00000529952.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000529067.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000526816.2_Missense_Mutation_p.Q159H NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 159 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) CGGCCCGGGGCTGGGAGGTCA 0.607000 14 32 2.23348e-06 4.91366e-06 0.146539 1 0 SSTR2 0 broad.mit.edu 37 17 71166132 71166132 + Missense_Mutation SNP G G T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr17:71166132G>T ENST00000357585.2 + 2 1043 c.674G>T c.(673-675)tGt>tTt p.C225F RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.C225F NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 225 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) ACCATCATCTGTCTTTGCTAC 0.502000 18 145 5.03518e-11 1.18686e-10 0.043863 1 0 ALMS1 7840 broad.mit.edu 37 2 73828375 73828375 + Missense_Mutation SNP A A T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr2:73828375A>T ENST00000264448.6 + 19 12034 c.11923A>T c.(11923-11925)Aac>Tac p.N3975Y ALMS1_ENST00000409009.1_Missense_Mutation_p.N3933Y|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3975 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAAGAAGGAAAACGTGCCTAA 0.468000 6 203 0 0 0.021553 0 0 DNM1P47 0 broad.mit.edu 37 15 102305084 102305084 + RNA SNP T T C TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr15:102305084T>C ENST00000561463.1 + 0 13130 GACATCAACATGAACACCATC 0.632000 4 24 0 0 0.014758 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 8 49 0 0 0.047766 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr16:90161618C>T ENST00000564451.1 + 0 971 TUBB8P7_ENST00000567960.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 3 31 0 0 0.009096 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202216069 202216069 + Missense_Mutation SNP C C T rs142397497 TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr2:202216069C>T ENST00000405148.2 - 2 502 c.59G>A c.(58-60)cGg>cAg p.R20Q ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q NM_139163.2 NP_631902.2 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 20 regulation of GTPase activity protein binding p.R20Q(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 GATTAGCTTCCGTGGTCCCAA 0.557000 25 49 0 0 0.134883 0 0 KLHL14 57565 broad.mit.edu 37 18 30349946 30349946 + Silent SNP C C T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr18:30349946C>T ENST00000359358.4 - 2 1047 c.609G>A c.(607-609)aaG>aaA p.K203K KLHL14_ENST00000358095.4_Silent_p.K203K|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 203 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TGTTGGCCAGCTTCTTGGTCT 0.627000 4 114 0 0 0.014758 0 0 NR3C2 0 broad.mit.edu 37 4 149075797 149075797 + Nonsense_Mutation SNP G G C TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr4:149075797G>C ENST00000355292.3 - 5 2644 c.2282C>G c.(2281-2283)tCa>tGa p.S761* NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.S757*|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.S757*|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.S761* P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 757 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATCTGGTTTTGAGCTGTCATA 0.493000 4 215 0 0 0.009096 0 0 HACE1 57531 broad.mit.edu 37 6 105198273 105198273 + Missense_Mutation SNP C C A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr6:105198273C>A ENST00000262903.4 - 20 2562 c.2286G>T c.(2284-2286)caG>caT p.Q762H HACE1_ENST00000369125.2_Missense_Mutation_p.Q547H|HACE1_ENST00000517995.1_5'UTR NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 762 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TATGAAAGCCCTGTAAAAAAG 0.383000 3 43 0.115264 0.190186 0.115264 1 0 OR4C6 219432 broad.mit.edu 37 11 55432991 55432991 + Missense_Mutation SNP G G C TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr11:55432991G>C ENST00000314259.3 + 1 378 c.349G>C c.(349-351)Gcc>Ccc p.A117P NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CACTGTGATGGCCTATGACCG 0.567000 3 98 0 0 0.115264 0 0 CSMD1 64478 broad.mit.edu 37 8 3008978 3008978 + Missense_Mutation SNP G G T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr8:3008978G>T ENST00000602557.1 - 41 6530 c.5975C>A c.(5974-5976)cCa>cAa p.P1992Q CSMD1_ENST00000400186.3_Missense_Mutation_p.P1992Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1992Q|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1992Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1992 CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTAAGAACCTGGGAAGCCGGG 0.488000 10 28 6.40141e-05 0.000124263 0.080935 1 0 INTU 27152 broad.mit.edu 37 4 128627849 128627850 + Frame_Shift_Ins INS - - A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr4:128627849_128627850insA ENST00000335251.5 + 12 2099_2100 c.1996_1997insA c.(1996-1998)aaafs p.K666fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 666 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TGGATCACGTGAAAAAACAGAT 0.465 40 87 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 2 4 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888988 65888988 + RNA DEL T T - TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr7:65888988delT ENST00000442578.1 - 0 826 tttttttttcttttttttttt 0.488 2 4 --- --- --- --- RP11-467H10.2 0 broad.mit.edu 37 7 76685729 76685730 + RNA DEL AA AA - TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr7:76685729_76685730delAA ENST00000459742.1 + 0 58 tctgtctcacaaaaaaaaaaaa 0.540 2 4 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggc>gg p.GD14del POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 14 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 3 3 --- --- --- ---