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 N4BP1 9683 broad.mit.edu 37 16 48595409 48595409 + Missense_Mutation SNP T T A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr16:48595409T>A ENST00000262384.3 - 2 1381 c.1145A>T c.(1144-1146)gAg>gTg p.E382V RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 382 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TTCAATTTCCTCTAAGAGCAA 0.343000 18 38 0 0 1 0 0 MRPL38 64978 broad.mit.edu 37 17 73895047 73895047 + Missense_Mutation SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr17:73895047C>T ENST00000309352.3 - 9 1564 c.1027G>A c.(1027-1029)Gag>Aag p.E343K MRPL38_ENST00000409963.3_Missense_Mutation_p.E159K|RP11-552F3.10_ENST00000587267.1_RNA NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 343 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCACGAACTCAAACACCGGC 0.682000 4 21 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357404 38357404 + Missense_Mutation SNP C C A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr13:38357404C>A ENST00000379705.3 - 2 924 c.67G>T c.(67-69)Gta>Tta p.V23L TRPC4_ENST00000379681.3_Missense_Mutation_p.V23L|TRPC4_ENST00000447043.1_Missense_Mutation_p.V23L|TRPC4_ENST00000379673.2_Missense_Mutation_p.V23L|TRPC4_ENST00000379679.1_Missense_Mutation_p.V23L|TRPC4_ENST00000426868.2_Missense_Mutation_p.V23L|TRPC4_ENST00000358477.2_Missense_Mutation_p.V23L|TRPC4_ENST00000355779.2_Missense_Mutation_p.V23L|TRPC4_ENST00000338947.5_Missense_Mutation_p.V23L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 23 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCTGCTCTTACTATCCTTAGA 0.423000 15 85 4.7546e-09 5.24988e-09 1 1 0 OR4D11 219986 broad.mit.edu 37 11 59271628 59271628 + Missense_Mutation SNP G G T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr11:59271628G>T ENST00000313253.1 + 1 580 c.580G>T c.(580-582)Gct>Tct p.A194S NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TGACACTTTTGCTCTTGAGTT 0.493000 39 62 2.87052e-16 3.38083e-16 1 1 0 HEY2 23493 broad.mit.edu 37 6 126080565 126080565 + Missense_Mutation SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr6:126080565C>T ENST00000368364.3 + 5 828 c.631C>T c.(631-633)Cgc>Tgc p.R211C HEY2_ENST00000368365.1_Missense_Mutation_p.R165C NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 211 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) AACCCCTTGTCGCCTCTCCAC 0.657000 11 153 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219869028 219869028 + Missense_Mutation SNP G G A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr2:219869028G>A ENST00000341552.5 - 33 5284 c.5201C>T c.(5200-5202)cCc>cTc p.P1734L CCDC108_ENST00000453220.1_Missense_Mutation_p.P1734L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1734L|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1734 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGCTGGAGGGTACAGGCAG 0.542000 64 79 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 48 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 4 10 0 0 1 0 0 VIP 7432 broad.mit.edu 37 6 153075402 153075402 + Missense_Mutation SNP C C A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr6:153075402C>A ENST00000367244.3 + 3 381 c.209C>A c.(208-210)aCa>aAa p.T70K VIP_ENST00000367243.3_Missense_Mutation_p.T70K NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 70 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) GAAAATGACACACCCTATTAT 0.313000 13 39 4.14922e-12 4.6789e-12 1 1 0 RPS6KA1 6195 broad.mit.edu 37 1 26898725 26898725 + Missense_Mutation SNP G G A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr1:26898725G>A ENST00000374168.2 + 20 2042 c.1888G>A c.(1888-1890)Ggc>Agc p.G630S RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G614S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.G538S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G639S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G619S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.G538S NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 630 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AACCCGGATCGGCAGTGGGAA 0.547000 9 47 0 0 1 0 0 KRTDAP 388533 broad.mit.edu 37 19 35979707 35979707 + Silent SNP G G T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr19:35979707G>T ENST00000338897.3 - 2 211 c.123C>A c.(121-123)ccC>ccA p.P41P KRTDAP_ENST00000484218.2_Silent_p.P41P|KRTDAP_ENST00000479340.1_5'UTR NM_207392.2 NP_997275.1 P60985 KTDAP_HUMAN keratinocyte differentiation-associated protein 41 cell differentiation extracellular region breast(1)|lung(4)|prostate(1) 6 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGCTTACCTCGGGTCGTGACG 0.552000 4 14 0.00024832 0.000263219 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95511108 95511108 + RNA SNP A A G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr2:95511108A>G ENST00000432432.2 - 0 906 NR_040113.1 TAAGAAATTCACAATCAGAAG 0.284000 28 38 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676909 100676909 + Missense_Mutation SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr7:100676909C>T ENST00000306151.4 + 3 2276 c.2212C>T c.(2212-2214)Cca>Tca p.P738S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 738 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P738S(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGCCAGTATGCCAACCTCAAC 0.502000 6 403 0 0 1 0 0 MID1IP1 58526 broad.mit.edu 37 X 38664286 38664286 + Missense_Mutation SNP C C G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chrX:38664286C>G ENST00000336949.6 + 2 1032 c.87C>G c.(85-87)gaC>gaG p.D29E MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29E|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29E NM_021242.4 NP_067065.1 Q9NPA3 M1IP1_HUMAN MID1 interacting protein 1 29 lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization cytosol|microtubule|nucleus kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 ACAACATGGACCAGACGGTGA 0.612000 18 37 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30793291 30793291 + Missense_Mutation SNP G G C TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr16:30793291G>C ENST00000262525.4 - 3 2565 c.2358C>G c.(2356-2358)caC>caG p.H786Q NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 786 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) GGGTTTCTTGGTGCCGGGTGA 0.657000 47 85 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40029556 40029556 + Missense_Mutation SNP C C A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr1:40029556C>A ENST00000372857.3 - 11 2236 c.1444G>T c.(1444-1446)Ggg>Tgg p.G482W PABPC4_ENST00000372858.3_Missense_Mutation_p.G498W|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 482 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCACCAGCCCCACCAAAGTCC 0.582000 11 31 0.010729 0.010729 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G T rs121913499 TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr2:209113113G>T ENST00000415913.1 - 4 775 c.394C>A c.(394-396)Cgt>Agt p.R132S IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 30 46 5.60225e-13 6.45477e-13 1 1 0 SELENBP1 8991 broad.mit.edu 37 1 151338088 151338088 + Missense_Mutation SNP A A G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr1:151338088A>G ENST00000426705.2 - 9 1265 c.1121T>C c.(1120-1122)cTg>cCg p.L374P SELENBP1_ENST00000447402.3_Missense_Mutation_p.L270P|SELENBP1_ENST00000368868.5_Missense_Mutation_p.L332P|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L268P NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 332 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATACTGCCTCAGGTCCCCATG 0.592000 4 97 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178416267 178416267 + Missense_Mutation SNP T T G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr2:178416267T>G ENST00000408939.2 - 1 1475 c.1225A>C c.(1225-1227)Atc>Ctc p.I409L NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 409 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GCCTTTTTGATAGCTTCATCA 0.398000 5 220 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131755536 131755536 + Missense_Mutation SNP T T C TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr9:131755536T>C ENST00000372577.2 + 26 2722 c.2701T>C c.(2701-2703)Ttc>Ctc p.F901L NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 901 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCGTGATGCCTTCCTGACCCG 0.532000 OREG0019527 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 91 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 6 119 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 3 22 0.00116845 0.00121427 1 1 0 SEC16B 89866 broad.mit.edu 37 1 177929520 177929520 + Missense_Mutation SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr1:177929520C>T ENST00000308284.6 - 8 1044 c.955G>A c.(955-957)Gaa>Aaa p.E319K RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Intron|SEC16B_ENST00000464631.1_Missense_Mutation_p.E320K NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 319 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TCTTGCTCTTCGGAATCATTA 0.428000 3 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087491 9087491 + Missense_Mutation SNP G G A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr19:9087491G>A ENST00000397910.4 - 1 4527 c.4324C>T c.(4324-4326)Ccc>Tcc p.P1442S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1442 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGACCAGGGGTTCCCCTGGG 0.522000 12 66 0 0 1 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32918314 32918314 + Missense_Mutation SNP T T G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr6:32918314T>G ENST00000374843.4 - 2 440 c.355A>C c.(355-357)Aaa>Caa p.K119Q HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119Q NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 119 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 ACCGGGATTTTCCCATCAAGT 0.488000 58 75 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 3 55 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3632640 3632640 + Silent SNP G G A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr16:3632640G>A ENST00000294008.3 - 15 5848 c.5208C>T c.(5206-5208)ggC>ggT p.G1736G RP11-461A8.1_ENST00000573982.1_lincRNA NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1736 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CCTCCCCCTCGCCCTCCTCTT 0.617000 Direct reversal of damage 9 11 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100173893 100173893 + Missense_Mutation SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr7:100173893C>T ENST00000310300.6 - 15 1658 c.1606G>A c.(1606-1608)Gat>Aat p.D536N LRCH4_ENST00000497245.1_Missense_Mutation_p.D84N NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 536 CH. nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCTTCTCATCTGGAACCTGG 0.637000 12 14 0 0 1 0 0 APOO 79135 broad.mit.edu 37 X 23899026 23899026 + Missense_Mutation SNP G G T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chrX:23899026G>T ENST00000379226.4 - 2 284 c.53C>A c.(52-54)aCc>aAc p.T18N APOO_ENST00000379220.3_Missense_Mutation_p.T18N NM_024122.4 NP_077027.1 Q9BUR5 APOO_HUMAN apolipoprotein O 18 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1) 9 GACTTTGAAGGTGAGCAAGCT 0.448000 5 28 1.23904e-05 1.34019e-05 1 1 0 HEY2 23493 broad.mit.edu 37 6 126080335 126080335 + Missense_Mutation SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr6:126080335C>T ENST00000368364.3 + 5 598 c.401C>T c.(400-402)gCg>gTg p.A134V HEY2_ENST00000368365.1_Missense_Mutation_p.A88V NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 134 Orange. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding p.A134V(2) breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) ACAGAAGTTGCGCGGTACCTG 0.587000 22 56 0 0 1 0 0 IFNA6 3443 broad.mit.edu 37 9 21350375 21350375 + Missense_Mutation SNP A A G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr9:21350375A>G ENST00000380210.1 - 1 1002 c.512T>C c.(511-513)aTc>aCc p.I171T NM_021002.2 NP_066282.1 P05013 IFNA6_HUMAN interferon, alpha 6 171 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding large_intestine(3)|lung(7)|skin(1) 11 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GGATCTCATGATTTCTGCTCT 0.448000 60 205 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127549423 127549423 + Missense_Mutation SNP G G A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr9:127549423G>A ENST00000373580.3 + 2 260 c.260G>A c.(259-261)cGc>cAc p.R87H NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 87 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 ACTGACTGCCGCTGCTCCTGT 0.627000 9 18 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77245264 77245264 + Silent SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chrX:77245264C>T ENST00000341514.6 + 4 1301 c.1146C>T c.(1144-1146)aaC>aaT p.N382N ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.N382N NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 382 HMA 4. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CTGTGATAAACATTGATGGCA 0.423000 110 59 0 0 1 0 0 NEIL1 79661 broad.mit.edu 37 15 75641378 75641378 + Silent SNP C C G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr15:75641378C>G ENST00000564784.1 + 3 761 c.132C>G c.(130-132)gcC>gcG p.A44A NEIL1_ENST00000569035.1_Silent_p.A44A|NEIL1_ENST00000355059.4_Silent_p.A44A|NEIL1_ENST00000567959.1_Intron Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) 44 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 AGAGCAGTGCCTACCGCATCT 0.652000 Base excision repair (BER), DNA glycosylases 15 33 0 0 1 0 0 AC007956.1 0 broad.mit.edu 37 14 75179781 75179781 + Missense_Mutation SNP A A G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr14:75179781A>G ENST00000338772.5 - 1 19 c.20T>C c.(19-21)aTc>aCc p.I7T AREL1_ENST00000557401.1_5'UTR|AREL1_ENST00000356357.4_5'UTR GGCTCGGGGGATTGCCCTTTC 0.597000 8 13 0 0 1 0 0 GNB2 2783 broad.mit.edu 37 7 100275813 100275813 + Missense_Mutation SNP G G A rs139214321 TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr7:100275813G>A ENST00000303210.4 + 8 1072 c.590G>A c.(589-591)cGc>cAc p.R197H GNB2_ENST00000393926.1_Missense_Mutation_p.R197H|GNB2_ENST00000436220.1_Missense_Mutation_p.R153H|GNB2_ENST00000427895.1_Missense_Mutation_p.R97H|GNB2_ENST00000419828.1_Missense_Mutation_p.R97H|GNB2_ENST00000393924.1_Missense_Mutation_p.R197H|GNB2_ENST00000424361.1_Missense_Mutation_p.R153H NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 197 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CCCGATGGCCGCACGTTTGTG 0.587000 4 105 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17750115 17750115 + Missense_Mutation SNP G G T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chrX:17750115G>T ENST00000380060.3 + 8 4762 c.4424G>T c.(4423-4425)aGc>aTc p.S1475I NHS_ENST00000398097.3_Missense_Mutation_p.S1319I NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1475 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) ACCCCCAACAGCCAGAGGTCT 0.498000 40 85 5.43694e-19 6.54904e-19 1 1 0 SUN1 23353 broad.mit.edu 37 7 893044 893044 + Splice_Site SNP A A G TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr7:893044A>G ENST00000456758.2 + 16 1620 c.e16-1 SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000425407.2_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000389574.3_Splice_Site O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTGCCATTTCAGGGTGACAGT 0.527000 4 44 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 5 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25145722 25145722 + Missense_Mutation SNP T T C TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr22:25145722T>C ENST00000332271.5 - 10 1570 c.1154A>G c.(1153-1155)aAg>aGg p.K385R PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 385 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CGTTAGGCCCTTTTTCCATCT 0.468000 3 53 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40029555 40029555 + Missense_Mutation SNP C C A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr1:40029555C>A ENST00000372857.3 - 11 2237 c.1445G>T c.(1444-1446)gGg>gTg p.G482V PABPC4_ENST00000372858.3_Missense_Mutation_p.G498V|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 482 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GGCACCAGCCCCACCAAAGTC 0.587000 11 32 0.010729 0.010729 1 1 0 TSPAN33 340348 broad.mit.edu 37 7 128804401 128804401 + Silent SNP C C T TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr7:128804401C>T ENST00000289407.4 + 5 559 c.450C>T c.(448-450)ggC>ggT p.G150G NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 150 integral to membrane p.G150G(1) NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 TTGATTTTGGCCAGAAAAAGG 0.512000 OREG0018304 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 46 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062420 2062420 + Missense_Mutation SNP G G C TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr12:2062420G>C ENST00000280665.6 - 7 765 c.686C>G c.(685-687)aCa>aGa p.T229R DCP1B_ENST00000397173.4_Missense_Mutation_p.T127R|DCP1B_ENST00000540622.1_Missense_Mutation_p.T103R|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 229 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) AAACAGAGCTGTCAAGGATAA 0.473000 17 21 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44010763 44010763 + Frame_Shift_Del DEL C C - TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr1:44010763delC ENST00000359947.4 + 3 357 c.17delC c.(16-18)gcfs p.A6fs PTPRF_ENST00000438120.1_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372413.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372414.3_Frame_Shift_Del_p.A6fs NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 6 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTGAGCCAGCCCCAGGGAGG 0.592 2 4 --- --- --- --- EVC2 132884 broad.mit.edu 37 4 5630449 5630449 + Frame_Shift_Del DEL C C - TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr4:5630449delC ENST00000310917.2 - 12 2214 c.1483delG c.(1483-1485)agfs p.E495fs EVC2_ENST00000344408.5_Frame_Shift_Del_p.E575fs|EVC2_ENST00000344938.1_Frame_Shift_Del_p.E575fs NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 575 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TCCATTAACTCTTCTACATTC 0.328 18 41 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f 1b3c00e9-650d-46dc-93f6-d5dcd42cf17a g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 2 4 --- --- --- ---