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 POTEG 404785 broad.mit.edu 37 14 19562088 19562088 + Missense_Mutation SNP A A G TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr14:19562088A>G ENST00000409832.3 + 4 957 c.905A>G c.(904-906)gAt>gGt p.D302G NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 302 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AATGCACTGGATAGATATGGA 0.328000 17 3 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785749 140785749 + Missense_Mutation SNP C C T TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chrX:140785749C>T ENST00000370515.3 - 2 500 c.167G>A c.(166-168)aGg>aAg p.R56K NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) AAAGTTCCTCCTGTAGCGAAC 0.488000 6 169 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809173 18809173 + Silent SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr1:18809173G>A ENST00000400664.1 + 1 1750 c.1698G>A c.(1696-1698)acG>acA p.T566T NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 566 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ACCCGCTCACGGGGATCTGGA 0.667000 15 29 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16279207 16279207 + Missense_Mutation SNP T T C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr22:16279207T>C ENST00000343518.6 - 4 1067 c.1016A>G c.(1015-1017)gAt>gGt p.D339G NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 339 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCCATATCTATCCAGTGCATT 0.318000 15 258 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27440680 27440680 + Silent SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr1:27440680G>A ENST00000263980.3 - 2 1025 c.450C>T c.(448-450)ggC>ggT p.G150G SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Silent_p.G150G NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 150 regulation of pH integral to membrane sodium:hydrogen antiporter activity p.G150G(1) central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) GGGGTGTCTCGCCTACACCCT 0.617000 28 40 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23017075 23017075 + Missense_Mutation SNP C C T TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr20:23017075C>T ENST00000255008.3 + 1 1019 c.955C>T c.(955-957)Cgc>Tgc p.R319C RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 319 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGACAACTTCCGCCGATTCTT 0.587000 44 52 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157105467 157105467 + Missense_Mutation SNP T T A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr1:157105467T>A ENST00000368192.4 - 3 144 c.80A>T c.(79-81)gAg>gTg p.E27V ETV3_ENST00000326786.4_Missense_Mutation_p.E27V|ETV3_ENST00000460850.1_5'UTR NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 27 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) TGGGGATGACTCTGTTTTGTA 0.527000 44 70 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72172772 72172772 + Silent SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr15:72172772G>A ENST00000356056.5 - 29 5998 c.5526C>T c.(5524-5526)aaC>aaT p.N1842N MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000564571.1_Silent_p.N1842N|MYO9A_ENST00000444904.1_Silent_p.N1823N NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1842 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CCAAAGCCACGTTGCTAATCT 0.438000 45 100 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40955639 40955639 + Missense_Mutation SNP A A G TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr5:40955639A>G ENST00000313164.9 + 10 1603 c.1244A>G c.(1243-1245)cAa>cGa p.Q415R NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 415 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AATCTTCCTCAAGTCATAAAA 0.413000 4 90 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69726213 69726213 + Missense_Mutation SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr16:69726213G>A ENST00000349945.1 + 14 3755 c.2203G>A c.(2203-2205)Gtt>Att p.V735I NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I|NFAT5_ENST00000354436.2_Missense_Mutation_p.V811I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I|NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 811 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GTTATCTTCAGTTTTATTTTC 0.448000 44 86 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24787720 24787720 + Missense_Mutation SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr14:24787720G>A ENST00000310677.4 - 26 3249 c.3136C>T c.(3136-3138)Cgg>Tgg p.R1046W ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 1046 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) ATGACACCCCGGCTGTAGCAG 0.562000 27 59 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87443690 87443690 + Silent SNP A A C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr8:87443690A>C ENST00000517970.1 + 13 1750 c.1443A>C c.(1441-1443)acA>acC p.T481T WWP1_ENST00000349423.2_Silent_p.T263T|WWP1_ENST00000341922.2_Silent_p.T351T|WWP1_ENST00000265428.4_Silent_p.T481T NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 481 WW 3. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 ACACAAAAACAACCCAGTGGG 0.348000 22 67 0 0 1 0 0 MRAP2 112609 broad.mit.edu 37 6 84799071 84799071 + Silent SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr6:84799071G>A ENST00000257776.4 + 4 624 c.489G>A c.(487-489)aaG>aaA p.K163K NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 163 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 GGCTCATGAAGTTTGACATCC 0.493000 44 58 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160050870 160050870 + Missense_Mutation SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr2:160050870G>A ENST00000263635.6 + 17 3082 c.2845G>A c.(2845-2847)Gaa>Aaa p.E949K TANC1_ENST00000454300.1_Missense_Mutation_p.E843K NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 949 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TGGCCACGAGGAAGTTGTCAC 0.552000 25 45 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138379182 138379182 + Silent SNP C C T TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr9:138379182C>T ENST00000356818.2 + 4 3375 c.2826C>T c.(2824-2826)acC>acT p.T942T PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.T942T|PPP1R26_ENST00000401470.3_Silent_p.T942T|PPP1R26_ENST00000605286.1_Silent_p.T942T|PPP1R26_ENST00000604351.1_Silent_p.T942T NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 942 nucleolus protein binding CCAGGAGCACCAGCGGCGGTG 0.652000 59 53 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82434955 82434955 + Missense_Mutation SNP T T C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr1:82434955T>C ENST00000370728.1 + 17 3250 c.2605T>C c.(2605-2607)Ttc>Ctc p.F869L LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000469377.2_Intron O95490 LPHN2_HUMAN latrophilin 2 869 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CATCTTCACCTTCTGCTTTTT 0.393000 47 120 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 20 57 0 0 1 0 0 AC093838.4 0 broad.mit.edu 37 2 132256505 132256505 + RNA SNP A A C rs3817572 by1000genomes TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr2:132256505A>C ENST00000438378.2 + 0 478 NR_026922.1 TGATTAAAGTAATTGAGGATT 0.388000 4 92 0 0 1 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049234 36049234 + Missense_Mutation SNP C C G TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr13:36049234C>G ENST00000379919.4 - 1 1598 c.1042G>C c.(1042-1044)Gag>Cag p.E348Q NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 348 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) GTCAGGATCTCTCTTGCCAGT 0.433000 37 84 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C C T TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr12:8386973C>T ENST00000427893.2 - 0 793 AGCCAGCCTCCGCAGGACCCC 0.592000 6 122 0 0 1 0 0 ALDH1A3 220 broad.mit.edu 37 15 101425495 101425495 + Silent SNP C C T rs58142816 byFrequency TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr15:101425495C>T ENST00000329841.5 + 2 655 c.123C>T c.(121-123)caC>caT p.H41H ALDH1A3_ENST00000346623.6_Silent_p.H41H|ALDH1A3_ENST00000560555.1_3'UTR NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 41 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) ATGAATGGCACGAATCCAAGA 0.348000 18 36 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48335325 48335325 + Missense_Mutation SNP A A C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr7:48335325A>C ENST00000435803.1 + 21 9008 c.8984A>C c.(8983-8985)aAt>aCt p.N2995T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2995 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCCTCGCCGAATCAGCTAAAT 0.393000 43 93 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232538163 232538163 + Missense_Mutation SNP C C T TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr1:232538163C>T ENST00000366630.1 - 21 5355 c.4997G>A c.(4996-4998)cGa>cAa p.R1666Q SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1666 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTGGAGTTGTCGAAGAATTAA 0.393000 20 24 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18937330 18937330 + Missense_Mutation SNP T T C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr16:18937330T>C ENST00000446231.2 - 1 446 c.34A>G c.(34-36)Agc>Ggc p.S12G SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 12 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ccgccgccgctgcTCAGCCGA 0.736000 3 13 0 0 1 0 0 LCN1 3933 broad.mit.edu 37 9 138413373 138413373 + Silent SNP T T C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr9:138413373T>C ENST00000263598.2 + 1 90 c.30T>C c.(28-30)ctT>ctC p.L10L LCN1_ENST00000371781.3_Silent_p.L10L NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 10 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity p.L10L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) CCGTCAGCCTTGGCCTCATTG 0.667000 4 48 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1481915 1481915 + Missense_Mutation SNP C C T rs145279692 TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr19:1481915C>T ENST00000300954.5 - 15 2172 c.2111G>A c.(2110-2112)cGc>cAc p.R704H NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 704 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTGGGCAGCGGTGGTGGGG 0.711000 8 16 0 0 1 0 0 ALDH7A1 501 broad.mit.edu 37 5 125885898 125885898 + Missense_Mutation SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr5:125885898G>A ENST00000409134.3 - 15 1624 c.1405C>T c.(1405-1407)Cgc>Tgc p.R469C ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 469 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) CCAAGCCAGCGAAAGATTCTG 0.348000 22 61 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72946552 72946552 + Missense_Mutation SNP C C A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr8:72946552C>A ENST00000262209.4 - 22 2823 c.2616G>T c.(2614-2616)agG>agT p.R872S RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 872 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CAACTGTAGACCTCAACAAAG 0.294000 26 34 7.92952e-12 8.59032e-12 1 1 0 LPO 0 broad.mit.edu 37 17 56342147 56342147 + Missense_Mutation SNP C C T TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr17:56342147C>T ENST00000262290.4 + 10 1647 c.1331C>T c.(1330-1332)cCa>cTa p.P444L LPO_ENST00000543544.1_Missense_Mutation_p.P385L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L|LPO_ENST00000421678.2_Missense_Mutation_p.P361L NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 444 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TGGATACCCCCATATCAAGGC 0.478000 35 47 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231150502 231150502 + Missense_Mutation SNP G G A TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr2:231150502G>A ENST00000392045.3 + 17 1714 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K|SP140_ENST00000343805.6_Missense_Mutation_p.E474K NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 534 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGTCTCCAGTGAAAAGAAGGC 0.458000 51 80 0 0 1 0 0 FEV 54738 broad.mit.edu 37 2 219846970 219846970 + Missense_Mutation SNP G G C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr2:219846970G>C ENST00000295727.1 - 3 717 c.136C>G c.(136-138)Cag>Gag p.Q46E NM_017521.2 NP_059991.1 Q99581 FEV_HUMAN FEV (ETS oncogene family) 46 cell differentiation|nervous system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity EWSR1/FEV(11)|FUS/FEV(2) large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGATCTGTCCGCTGCCT 0.697000 T """EWSR1, FUS""" Ewing sarcoma 8 6 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279204 47279204 + Silent SNP C C T rs147120348 TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr1:47279204C>T ENST00000271153.4 + 5 582 c.546C>T c.(544-546)tgC>tgT p.C182C CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000452782.2_Silent_p.C19C|CYP4B1_ENST00000371923.4_Silent_p.C182C P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 182 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) ACATCTTCTGCGATGTGGGTC 0.582000 28 36 0 0 1 0 0 ZNF256 10172 broad.mit.edu 37 19 58453810 58453810 + Silent SNP T T C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr19:58453810T>C ENST00000282308.3 - 3 562 c.366A>G c.(364-366)gcA>gcG p.A122A ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 122 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) GTTTCCTACATGCCCCGTCTG 0.458000 50 93 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85984926 85984926 + Nonsense_Mutation SNP C C G TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr3:85984926C>G ENST00000383699.3 + 7 1337 c.710C>G c.(709-711)tCa>tGa p.S237* CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.S228* NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 228 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GATACACCATCAGTTAAGATT 0.328000 56 83 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230724205 230724206 + Frame_Shift_Ins INS - - C TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr2:230724205_230724206insC ENST00000283943.5 - 3 361_362 c.183_184insG c.(181-186)ggaggtfs p.G62fs TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.G104fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.G104fs|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.G104fs NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 62 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTAGGCACCTGCCCCGTTTTTT 0.450 7 266 --- --- --- --- RP11-103G8.2 0 broad.mit.edu 37 3 150421899 150421900 + RNA INS - - C rs34009900 by1000genomes TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr3:150421899_150421900insC ENST00000475393.1 + 0 20 RP11-103G8.2_ENST00000471093.1_RNA TTCTGTCCCTGCTCTTCAGCGT 0.545 5 4 --- --- --- --- STAG3L1 0 broad.mit.edu 37 7 74991540 74991541 + RNA DEL TT TT - TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr7:74991540_74991541delTT ENST00000402225.5 + 0 434 P0CL83 ST3L1_HUMAN nucleus binding GAGCATGttctttttttttttt 0.411 2 4 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 4 2 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52596001 52596002 + Frame_Shift_Ins INS - - T TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr10:52596001_52596002insT ENST00000395489.2 - 8 811_812 c.415_416insA c.(415-417)caafs p.Q139fs A1CF_ENST00000282641.2_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.Q154fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.Q146fs NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 146 RRM 2. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TCTCTTTTTGGTTTTTGGGATG 0.446 39 103 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 7 170 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 7 704 --- --- --- --- ALKBH1 8846 broad.mit.edu 37 14 78161070 78161102 + Splice_Site DEL ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT - TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT ENST00000216489.3 - 3 449_471 c.455_splice c.e3+1 p.145_splice ALKBH1_ENST00000554097.1_5'UTR NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 145 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) ATTCTGATTGACAAGACTTACCTCAGGAACTCTTTGCTCTGTTCCCACAGATC 0.403 8 142 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 3 6 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7573996 7574003 + Frame_Shift_Del DEL AGCTCTCG AGCTCTCG - rs121912662 TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chr17:7573996_7574003delAGCTCTCG ENST00000269305.4 - 10 1213_1220 c.1024_1031delCGAGAGCT c.(1024-1032)gfs p.REL342fs TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000455263.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 342 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(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) GGCCTCATTCAGCTCTCGGAACATCTCG 0.562 111 """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) 16 10 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938029 76938029 + Frame_Shift_Del DEL G G - TCGA-HT-7873-01B-11D-2395-08 TCGA-HT-7873-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc65ab63-a507-4dbf-becf-93fc7d1bea3d b7ec26c5-3d2d-4164-9de2-7202c49e4429 g.chrX:76938029delG ENST00000373344.5 - 9 2933 c.2719delC c.(2719-2721)gafs p.R907fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 907 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1)|p.R907*(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTAGGAAGTCGATCTCTTAAT 0.418 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 154 38 --- --- --- ---