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 TRIM24 8805 broad.mit.edu 37 7 138261187 138261187 + Missense_Mutation SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr7:138261187G>A ENST00000343526.4 + 13 2299 c.2084G>A c.(2083-2085)gGa>gAa p.G695E TRIM24_ENST00000415680.2_Missense_Mutation_p.G661E O15164 TIF1A_HUMAN tripartite motif containing 24 695 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 GGAAGCCGAGGAAGGTAAACT 0.378000 8 87 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107704967 107704967 + Silent SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr8:107704967C>T ENST00000445937.1 + 7 798 c.537C>T c.(535-537)gtC>gtT p.V179V OXR1_ENST00000531443.1_Silent_p.V179V|OXR1_ENST00000517566.2_Silent_p.V179V|OXR1_ENST00000442977.2_Silent_p.V180V|OXR1_ENST00000497705.1_Silent_p.V112V|OXR1_ENST00000312046.6_Silent_p.V172V|OXR1_ENST00000452423.2_5'UTR NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 180 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ATCCTGATGTCCATCCAACAG 0.338000 14 35 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149679749 149679749 + Missense_Mutation SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr2:149679749C>T ENST00000435030.1 + 2 538 c.170C>T c.(169-171)aCg>aTg p.T57M O60282 KIF5C_HUMAN kinesin family member 5C 57 Kinesin-motor. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CCTCCCAACACGACCCAAGAG 0.408000 7 20 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115303787 115303787 + Missense_Mutation SNP A A G TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chrX:115303787A>G ENST00000371906.4 + 3 444 c.254A>G c.(253-255)aAc>aGc p.N85S NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 85 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TACATCTTCAACCTCGCTGTG 0.378000 4 305 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 43 0 0 1 0 0 MRPS23 51649 broad.mit.edu 37 17 55918578 55918578 + Missense_Mutation SNP G G T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr17:55918578G>T ENST00000313608.8 - 3 304 c.259C>A c.(259-261)Cta>Ata p.L87I MRPS23_ENST00000578444.1_Missense_Mutation_p.L87I NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 87 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) GGATTGAATAGATCAAAAGCT 0.323000 48 71 6.3237e-29 6.71893e-29 1 1 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 3 11 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085056 17085056 + RNA SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr1:17085056G>A ENST00000455405.2 - 0 132 CCACCCTCTTGCCACACTTCT 0.602000 5 55 0 0 1 0 0 ZNF569 148266 broad.mit.edu 37 19 37903535 37903535 + Silent SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr19:37903535C>T ENST00000316950.6 - 6 2582 c.2025G>A c.(2023-2025)tcG>tcA p.S675S ZNF569_ENST00000392149.2_Silent_p.S675S|ZNF569_ENST00000392150.2_Silent_p.S516S NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 675 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAACAAGGTGCGACTTTTGGC 0.408000 49 72 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42259554 42259554 + Missense_Mutation SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr19:42259554C>T ENST00000199764.6 + 1 226 c.8C>T c.(7-9)cCc>cTc p.P3L CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 3 cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) ACCATGGGACCCCCCTCAGCC 0.612000 15 35 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027114 37027114 + Missense_Mutation SNP C C T rs143691874 TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chrX:37027114C>T ENST00000358047.3 + 1 683 c.631C>T c.(631-633)Cgc>Tgc p.R211C NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 211 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 GTCCAGTCTCCGCCCGGAGCC 0.647000 22 35 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23401783 23401783 + Missense_Mutation SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr22:23401783C>T ENST00000216036.4 - 7 1100 c.904G>A c.(904-906)Gcc>Acc p.A302T NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 302 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CCCTCGGGGGCCTCTGCCAGC 0.642000 34 44 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776137 5776137 + Missense_Mutation SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr11:5776137C>T ENST00000317254.3 + 1 215 c.167C>T c.(166-168)gCc>gTc p.A56V TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TATGAGGATGCCCTGCACAAA 0.453000 3 58 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66208905 66208905 + Missense_Mutation SNP A A G TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr14:66208905A>G ENST00000360689.5 + 11 3232 c.1505A>G c.(1504-1506)cAg>cGg p.Q502R FUT8_ENST00000394585.1_Missense_Mutation_p.Q502R|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96R|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373R|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502R|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339R NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 502 SH3. in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TTTGGGGGCCAGAATGCCCAC 0.438000 5 137 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 42 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70347560 70347560 + Missense_Mutation SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr15:70347560C>T ENST00000558939.1 - 15 2792 c.1415G>A c.(1414-1416)gGc>gAc p.G472D TLE3_ENST00000558201.1_Missense_Mutation_p.G478D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000317509.8_Missense_Mutation_p.G460D Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 472 organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCTCGGGATGCCGGGGCCTGC 0.637000 3 51 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 19 38 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95178204 95178204 + Splice_Site SNP C C A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr8:95178204C>A ENST00000027335.3 - 10 1191 c.1066_splice c.e10-1 p.G356_splice CDH17_ENST00000441892.2_Splice_Site_p.G142_splice|CDH17_ENST00000450165.2_Splice_Site_p.G356_splice NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 356 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GATACTGTTACCTATGAGGAA 0.398000 9 19 0.000673444 0.000700932 1 1 0 SIRT1 23411 broad.mit.edu 37 10 69669113 69669113 + Missense_Mutation SNP G G C TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr10:69669113G>C ENST00000212015.6 + 7 1324 c.1271G>C c.(1270-1272)aGa>aCa p.R424T SIRT1_ENST00000406900.1_Missense_Mutation_p.R121T|SIRT1_ENST00000403579.1_Missense_Mutation_p.R121T|SIRT1_ENST00000432464.1_Missense_Mutation_p.R129T NM_012238.4 NP_036370.2 Q96EB6 SIRT1_HUMAN sirtuin 1 424 Deacetylase sirtuin-type. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 CAGTTTCATAGAGCCATGAAG 0.418000 41 40 0 0 1 0 0 CLDND1 56650 broad.mit.edu 37 3 98235544 98235544 + Missense_Mutation SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr3:98235544G>A ENST00000503004.1 - 5 1600 c.721C>T c.(721-723)Cgg>Tgg p.R241W CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.R241W|CLDND1_ENST00000511081.1_Missense_Mutation_p.R146W|CLDND1_ENST00000437922.1_Missense_Mutation_p.R264W|CLDND1_ENST00000510545.1_Missense_Mutation_p.R241W|CLDND1_ENST00000394181.2_Missense_Mutation_p.R241W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R241W|CLDND1_ENST00000341181.6_Missense_Mutation_p.R241W|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.R241W Q9NY35 CLDN1_HUMAN claudin domain containing 1 241 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 9 TACTCTTTCCGGTTGGTGTGA 0.428000 15 33 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81735339 81735339 + Missense_Mutation SNP G G C TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr16:81735339G>C ENST00000537098.3 + 16 1902 c.1830G>C c.(1828-1830)gaG>gaC p.E610D CMIP_ENST00000539778.2_Missense_Mutation_p.E516D|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.E457D NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 576 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CAACCCTGGAGAGCACAGACG 0.587000 63 114 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81627192 81627192 + Silent SNP T T C TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr15:81627192T>C ENST00000558726.1 - 21 2466 c.2331A>G c.(2329-2331)tcA>tcG p.S777S RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.S776S|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 776 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TGCTGCTCCCTGAGTCAAAAT 0.607000 3 42 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 3 48 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 152012290 152012290 + Missense_Mutation SNP C C A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr7:152012290C>A ENST00000355193.2 - 4 741 c.523G>T c.(523-525)Gac>Tac p.D175Y KMT2C_ENST00000262189.6_Missense_Mutation_p.D175Y lysine (K)-specific methyltransferase 2C TTGCTGTTGTCATCAATGTCC 0.378000 79 284 1.25742e-37 1.36444e-37 1 1 0 DDX54 79039 broad.mit.edu 37 12 113614883 113614883 + Silent SNP A A G TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr12:113614883A>G ENST00000314045.7 - 6 657 c.630T>C c.(628-630)ttT>ttC p.F210F DDX54_ENST00000306014.5_Silent_p.F210F NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 210 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCAGGGCTGCAAACTGGTCTT 0.517000 22 38 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10298604 10298604 + Missense_Mutation SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr17:10298604G>A ENST00000403437.2 - 34 4902 c.4808C>T c.(4807-4809)aCg>aTg p.T1603M CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1603 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGCATCCAGCGTGCTCTGCAT 0.428000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 40 100 0 0 1 0 0 LTA4H 4048 broad.mit.edu 37 12 96400139 96400139 + Missense_Mutation SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr12:96400139G>A ENST00000228740.2 - 16 1624 c.1483C>T c.(1483-1485)Ctc>Ttc p.L495F LTA4H_ENST00000552789.1_Missense_Mutation_p.L471F|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000413268.2_Missense_Mutation_p.L471F NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 495 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 TGAGAAGAGAGATCCTTCAGG 0.338000 9 19 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4829646 4829646 + Nonsense_Mutation SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr3:4829646C>T ENST00000302640.8 + 51 6936 c.6586C>T c.(6586-6588)Cga>Tga p.R2196* ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R2148*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.R2196* NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2211 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CAGATTAGACCGAACAATGGA 0.388000 3 10 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53579402 53579402 + Splice_Site SNP G G C TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chrX:53579402G>C ENST00000342160.3 - 62 9208 c.8750_splice c.e62-1 p.S2917_splice HUWE1_ENST00000262854.6_Splice_Site_p.S2917_splice Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2917 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CAGGTGGGGAGCTGAGGGAAA 0.488000 4 18 0 0 1 0 0 NDRG3 57446 broad.mit.edu 37 20 35293669 35293669 + Missense_Mutation SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr20:35293669C>T ENST00000373803.2 - 11 784 c.728G>A c.(727-729)gGc>gAc p.G243D NDRG3_ENST00000540765.1_Missense_Mutation_p.G139D|NDRG3_ENST00000373773.3_Missense_Mutation_p.G148D|NDRG3_ENST00000359675.2_Missense_Mutation_p.G231D|NDRG3_ENST00000349004.1_Missense_Mutation_p.G243D Q9UGV2 NDRG3_HUMAN NDRG family member 3 243 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) ATCATTTTGGCCCAGTATGGG 0.378000 4 201 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52539130 52539130 + Missense_Mutation SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr3:52539130G>A ENST00000321725.6 + 13 1565 c.1489G>A c.(1489-1491)Gcc>Acc p.A497T NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 497 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCGGTGGCAGGCCCCCTCTGG 0.607000 30 44 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7579935 7579935 + Missense_Mutation SNP T T C TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr6:7579935T>C ENST00000379802.3 + 23 3853 c.3512T>C c.(3511-3513)aTt>aCt p.I1171T DSP_ENST00000418664.2_Missense_Mutation_p.I1171T NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1171 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGTACGAGATTGAAAGGTTG 0.443000 19 25 0 0 1 0 0 TRAV9-2 0 broad.mit.edu 37 14 22409646 22409646 + RNA SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr14:22409646G>A ENST00000390441.2 + 0 192 CACGTACACAGCCACAGGATA 0.498000 10 18 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142573433 142573433 + Splice_Site SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr7:142573433C>T ENST00000359396.3 - 8 1155 c.909_splice c.e8-1 p.A304_splice NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 304 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) ATCTGGCGAGCCTGCAACAGA 0.597000 4 120 0 0 1 0 0 INPP5E 56623 broad.mit.edu 37 9 139326361 139326361 + Silent SNP G G A rs140255426 byFrequency TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr9:139326361G>A ENST00000371712.3 - 7 1866 c.1464C>T c.(1462-1464)gtC>gtT p.V488V NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 488 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGGCGTCCACGACTGTGCGCC 0.667000 14 11 0 0 1 0 0 HPRT1 3251 broad.mit.edu 37 X 133627577 133627577 + Missense_Mutation SNP T T C TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chrX:133627577T>C ENST00000298556.7 + 6 601 c.442T>C c.(442-444)Tcc>Ccc p.S148P HPRT1_ENST00000462974.1_3'UTR NM_000194.2 NP_000185.1 P00492 HPRT_HUMAN hypoxanthine phosphoribosyltransferase 1 148 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(192;0.000127) Mercaptopurine(DB01033)|Thioguanine(DB00352) GACTTTGCTTTCCTTGGTCAG 0.353000 89 122 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 57 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119449113 119449113 + Missense_Mutation SNP C C T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr3:119449113C>T ENST00000273390.5 + 8 984 c.907C>T c.(907-909)Cgt>Tgt p.R303C NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GTTGAGGAAGCGTGAAGAGAA 0.428000 5 185 0 0 1 0 0 TMEFF1 8577 broad.mit.edu 37 9 103338864 103338864 + Frame_Shift_Del DEL G G - TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr9:103338864delG ENST00000374879.4 + 10 1557 c.1125delG c.(1123-1125)acfs p.T375fs TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.T336fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Del_p.V339fs NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) CTTCAGATACGTCATCCAGAA 0.308 25 77 --- --- --- --- GPX2 2877 broad.mit.edu 37 14 65406518 65406519 + Frame_Shift_Ins INS - - T TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d7ae870-2665-4bb5-b7dc-3763198ab5ff a08583ca-2b35-49fb-9256-367e144bc2c8 g.chr14:65406518_65406519insT ENST00000389614.5 - 2 346_347 c.260_261insA c.(259-261)atafs p.I87fs CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron NM_002083.3 NP_002074.2 P18283 GPX2_HUMAN glutathione peroxidase 2 (gastrointestinal) 87 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity large_intestine(2)|ovary(1)|skin(1) 4 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) GACGGACATACTTGAGACTGTT 0.520 16 36 --- --- --- ---