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 TPTE2P6 0 broad.mit.edu 37 13 25161457 25161457 + RNA SNP G G A rs1851732 by1000genomes TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr13:25161457G>A ENST00000453498.1 + 0 981 TTATTTATTCGATTCGTGGTA 0.378000 4 45 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56525276 56525276 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr12:56525276C>T ENST00000394048.5 + 6 994 c.730C>T c.(730-732)Cgg>Tgg p.R244W ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 244 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TGGCGTTTTGCGGGTGATACT 0.517000 4 180 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100348461 100348461 + RNA SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr7:100348461G>A ENST00000542585.1 + 0 1611 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGGTCTCAGCGCCCTTACTGG 0.622000 17 21 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280155 152280155 + Missense_Mutation SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr1:152280155G>A ENST00000368799.1 - 3 7242 c.7207C>T c.(7207-7209)Cgg>Tgg p.R2403W FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2403 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGCTGACCGGCCACGTGTG 0.597000 Ichthyosis 131 89 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41012265 41012265 + Silent SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr19:41012265C>T ENST00000352632.3 + 13 1874 c.1788C>T c.(1786-1788)gcC>gcT p.A596A SPTBN4_ENST00000598249.1_Silent_p.A596A|SPTBN4_ENST00000338932.3_Silent_p.A596A|SPTBN4_ENST00000344104.3_Silent_p.A596A|SPTBN4_ENST00000595535.1_Silent_p.A596A Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 596 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTCTCAATGCCGCTGCCCTGC 0.632000 15 8 0 0 1 0 0 EIF4A1 1973 broad.mit.edu 37 17 7481180 7481180 + Missense_Mutation SNP T T G TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr17:7481180T>G ENST00000293831.8 + 9 958 c.942T>G c.(940-942)atT>atG p.I314M EIF4A1_ENST00000582746.1_Missense_Mutation_p.I314M|EIF4A1_ENST00000577269.1_Missense_Mutation_p.I314M|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000581808.1_3'UTR NM_001416.3 NP_001407.1 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A1 314 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 GAGACGTGATTATGAGGGAGT 0.498000 19 46 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244218559 244218559 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr1:244218559C>T ENST00000358704.4 + 2 1632 c.1483C>T c.(1483-1485)Cgc>Tgc p.R495C NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 CAGACACATTCGCAAGTTCCA 0.577000 22 41 0 0 1 0 0 C2orf76 130355 broad.mit.edu 37 2 120078765 120078765 + Missense_Mutation SNP G G C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr2:120078765G>C ENST00000409466.2 - 4 670 c.149C>G c.(148-150)aCc>aGc p.T50S C2orf76_ENST00000409523.1_Missense_Mutation_p.T50S|C2orf76_ENST00000409877.1_Missense_Mutation_p.T50S|C2orf76_ENST00000334816.7_Missense_Mutation_p.T50S Q3KRA6 CB076_HUMAN chromosome 2 open reading frame 76 50 large_intestine(1)|lung(3)|pancreas(1) 5 TGGCAGGTTGGTCCTTAAAGG 0.269000 17 27 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71896841 71896841 + Silent SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr2:71896841C>T ENST00000258104.3 + 50 5909 c.5632C>T c.(5632-5634)Ctg>Ttg p.L1878L DYSF_ENST00000409762.1_Silent_p.L1895L|DYSF_ENST00000409651.1_Silent_p.L1910L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Silent_p.L1900L|DYSF_ENST00000394120.2_Silent_p.L1879L|DYSF_ENST00000413539.2_Silent_p.L1909L|DYSF_ENST00000410020.3_Silent_p.L1917L|DYSF_ENST00000409744.1_Silent_p.L1886L|DYSF_ENST00000409582.3_Silent_p.L1916L|DYSF_ENST00000410041.1_Silent_p.L1896L|DYSF_ENST00000429174.2_Silent_p.L1899L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1878 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTTCGACTACCTGCCAGCTGA 0.512000 25 50 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148407074 148407074 + Missense_Mutation SNP T T G TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr4:148407074T>G ENST00000324300.5 + 2 756 c.241T>G c.(241-243)Tac>Gac p.Y81D EDNRA_ENST00000506066.1_Missense_Mutation_p.Y81D|EDNRA_ENST00000358556.4_Missense_Mutation_p.Y81D|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Missense_Mutation_p.Y81D NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 81 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) AGCTTTCAAATACATTAACAC 0.418000 4 118 0 0 1 0 0 DIS3L 115752 broad.mit.edu 37 15 66618626 66618626 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr15:66618626C>T ENST00000319194.5 + 12 2137 c.1876C>T c.(1876-1878)Cac>Tac p.H626Y DIS3L_ENST00000319212.4_Missense_Mutation_p.H709Y|RP11-352G18.2_ENST00000565993.1_RNA NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 709 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GCTGCGCCAGCACCCTCCTCC 0.537000 8 64 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95494763 95494763 + RNA SNP T T C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr2:95494763T>C ENST00000432432.2 - 0 1181 NR_040113.1 GCTCTCAATGTCTGTACATTC 0.323000 67 115 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6596402 6596402 + Missense_Mutation SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr4:6596402G>A ENST00000285599.3 + 7 1036 c.1000G>A c.(1000-1002)Gct>Act p.A334T MAN2B2_ENST00000504248.1_Missense_Mutation_p.A283T NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 334 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 TGCCCTGCACGCTCTCAATGT 0.622000 8 23 0 0 1 0 0 HAX1 10456 broad.mit.edu 37 1 154246290 154246290 + Translation_Start_Site SNP A A T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr1:154246290A>T ENST00000532105.1 + 0 150 HAX1_ENST00000457918.2_Silent_p.L71L|HAX1_ENST00000328703.7_Silent_p.L119L|HAX1_ENST00000483970.2_Silent_p.L127L O00165 HAX1_HUMAN HCLS1 associated protein X-1 actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTGAGAGACTACGGGAGGGAC 0.512000 Kostmann syndrome 4 82 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60650604 60650604 + Missense_Mutation SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr17:60650604G>A ENST00000582809.1 + 13 1253 c.550G>A c.(550-552)Gaa>Aaa p.E184K TLK2_ENST00000542523.1_Missense_Mutation_p.E301K|TLK2_ENST00000346027.5_Missense_Mutation_p.E333K|TLK2_ENST00000343388.7_Missense_Mutation_p.E301K|TLK2_ENST00000326270.9_Missense_Mutation_p.E333K Q86UE8 TLK2_HUMAN tousled-like kinase 2 333 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TTCACAGAGGGAAGAGATAGA 0.428000 9 11 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55797924 55797924 + Silent SNP T T C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr11:55797924T>C ENST00000313555.1 + 1 30 c.30T>C c.(28-30)acT>acC p.T10T NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) CCATGCCAACTGAGTTCCTAT 0.383000 18 47 0 0 1 0 0 RP11-467N20.5 0 broad.mit.edu 37 15 23412171 23412171 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr15:23412171C>T ENST00000558241.1 - 2 376 c.286G>A c.(286-288)Ggt>Agt p.G96S endometrium(1) 1 TGGCAACCACCAGAAGTGGTT 0.532000 29 30 0 0 1 0 0 FAM207A 85395 broad.mit.edu 37 21 46363734 46363734 + Missense_Mutation SNP G G A rs140146705 byFrequency TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr21:46363734G>A ENST00000291634.6 + 2 313 c.265G>A c.(265-267)Gtc>Atc p.V89I FAM207A_ENST00000397826.3_Intron NM_058190.2 NP_478070.1 Q9NSI2 CU070_HUMAN family with sequence similarity 207, member A 89 TGCACGGAGCGTCCCTTCCAT 0.612000 3 61 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 21 38 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17396326 17396326 + Missense_Mutation SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr19:17396326G>A ENST00000394458.3 + 7 1739 c.1463G>A c.(1462-1464)gGc>gAc p.G488D ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G462D|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G451D|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G484D NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 488 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 TTCTACGTGGGCAAAGGGACG 0.607000 4 100 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135911420 135911420 + Missense_Mutation SNP T T C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr2:135911420T>C ENST00000264158.8 + 19 2306 c.2263T>C c.(2263-2265)Ttt>Ctt p.F755L ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.F755L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.F711L NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 755 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) AAGGAGACTCTTTGATGATAC 0.418000 4 56 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19414811 19414811 + Missense_Mutation SNP A A C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr19:19414811A>C ENST00000334782.5 - 5 592 c.580T>G c.(580-582)Tgg>Ggg p.W194G SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000247001.5_Intron Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 0 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 ACAAAACACCATGACGAGGGG 0.587000 72 94 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114899934 114899934 + Silent SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr4:114899934G>A ENST00000315366.7 - 1 923 c.57C>T c.(55-57)gtC>gtT p.V19V ARSJ_ENST00000541197.1_Silent_p.V19V|ARSJ_ENST00000503013.2_5'UTR NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 19 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TTCCAGGACAGACACAGGCCT 0.627000 6 152 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39911568 39911568 + Nonsense_Mutation SNP C C A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chrX:39911568C>A ENST00000342274.4 - 15 5322 c.4960G>T c.(4960-4962)Gaa>Taa p.E1654* BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1688*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E531*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1636* NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1688 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTGACAATTTCCACGTTTGGA 0.438000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 23 4 1.1804e-14 1.1804e-14 1 1 0 APEX1 328 broad.mit.edu 37 14 20925577 20925577 + Missense_Mutation SNP C C G TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr14:20925577C>G ENST00000216714.3 + 5 1135 c.867C>G c.(865-867)caC>caG p.H289Q APEX1_ENST00000555414.1_Missense_Mutation_p.H289Q|APEX1_ENST00000398030.4_Missense_Mutation_p.H289Q|APEX1_ENST00000557054.1_3'UTR NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 289 Mitochondrial targeting sequence (MTS). base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) TGTTGTCCCACTCTCTGTTAC 0.488000 Other BER factors 58 24 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103900609 103900609 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr10:103900609C>T ENST00000278070.2 + 5 2383 c.2344C>T c.(2344-2346)Ctt>Ttt p.L782F PPRC1_ENST00000413464.2_Missense_Mutation_p.L782F NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 782 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GTGGCCTAGCCTTCCAGAGAC 0.582000 38 40 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159657261 159657261 + Missense_Mutation SNP C C G TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr6:159657261C>G ENST00000297267.9 + 12 4182 c.3982C>G c.(3982-3984)Cca>Gca p.P1328A FNDC1_ENST00000340366.6_Missense_Mutation_p.P1265A NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1328 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TAATGGCAGACCAAATGTAGA 0.408000 14 17 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98927458 98927458 + Missense_Mutation SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr12:98927458G>A ENST00000266732.4 + 4 1661 c.1423G>A c.(1423-1425)Gaa>Aaa p.E475K TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000261210.5_Intron NM_003276.2 NP_003267.1 P42167 LAP2B_HUMAN thymopoietin 0 integral to membrane|nuclear inner membrane DNA binding|lamin binding p.E475*(1) breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTTAGGTCTAGAAGTGGCTAA 0.388000 29 41 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196887466 196887466 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr1:196887466C>T ENST00000367416.2 + 10 1801 c.1664C>T c.(1663-1665)gCg>gTg p.A555V CFHR4_ENST00000367418.1_Missense_Mutation_p.A309V|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.A309V NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GGATATAATGCGAATACATCA 0.338000 33 86 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 30 0 0 1 0 0 SPRTN 83932 broad.mit.edu 37 1 231488995 231488995 + Missense_Mutation SNP T T C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr1:231488995T>C ENST00000295050.7 + 5 1694 c.1358T>C c.(1357-1359)aTg>aCg p.M453T NM_001010984.2|NM_032018.5 NP_001010984.1|NP_114407.3 SprT-like N-terminal domain CAGAGCAAAATGGTTAATTGC 0.398000 25 45 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150396333 150396333 + Missense_Mutation SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr3:150396333G>A ENST00000295910.6 - 10 1172 c.1120C>T c.(1120-1122)Cgc>Tgc p.R374C FAM194A_ENST00000491361.1_Missense_Mutation_p.R228C NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 374 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GTTTTTAAGCGCTTTGAATCT 0.269000 18 45 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr20:46279833G>A ENST00000372004.3 + 20 3963 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1253 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcaacagcagc 0.547000 3 41 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21245084 21245084 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr16:21245084C>T ENST00000311620.5 + 1 99 c.26C>T c.(25-27)gCt>gTt p.A9V NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 9 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) CACCAAGCTGCTAGTGATAGT 0.488000 49 81 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186917640 186917640 + Missense_Mutation SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr3:186917640G>A ENST00000312295.4 + 2 604 c.574G>A c.(574-576)Gag>Aag p.E192K RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 192 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) AGAGTTCTGCGAGGCCTGCCA 0.701000 27 16 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17397249 17397249 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr19:17397249C>T ENST00000394458.3 + 9 2012 c.1736C>T c.(1735-1737)cCa>cTa p.P579L ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.H507Y|ANKLE1_ENST00000594072.1_Missense_Mutation_p.P542L|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P575L NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 579 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GCAGGCTGGCCACCTGCTCGT 0.637000 16 21 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152419955 152419955 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr6:152419955C>T ENST00000440973.1 + 10 2012 c.1642C>T c.(1642-1644)Cgc>Tgc p.R548C ESR1_ENST00000443427.1_Missense_Mutation_p.R548C|ESR1_ENST00000206249.3_Missense_Mutation_p.R548C|ESR1_ENST00000338799.5_Missense_Mutation_p.R548C|ESR1_ENST00000406599.1_Missense_Mutation_p.R287C|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R436C NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 548 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GGACGCCCACCGCCTACATGC 0.577000 12 17 0 0 1 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047639 46047639 + Missense_Mutation SNP T T C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr21:46047639T>C ENST00000397911.3 + 1 600 c.551T>C c.(550-552)gTg>gCg p.V184A KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 184 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 TCCTACTGTGTGCCTGTCTGC 0.597000 143 215 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692097 116692097 + Missense_Mutation SNP T T C TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr11:116692097T>C ENST00000357780.3 - 3 791 c.677A>G c.(676-678)tAt>tGt p.Y226C NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GTCCTGAGCATAGGGAGCCAG 0.592000 7 164 0 0 1 0 0 MRPL45 84311 broad.mit.edu 37 17 36453192 36453192 + Missense_Mutation SNP T T G rs139299251 by1000genomes TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr17:36453192T>G ENST00000312513.5 + 1 204 c.43T>G c.(43-45)Ttt>Gtt p.F15V NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 15 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTTATCGAGGTTTTTGGGCTG 0.582000 3 50 0 0 1 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954500 10954500 + Missense_Mutation SNP C C T TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr12:10954500C>T ENST00000240687.2 - 1 726 c.670G>A c.(670-672)Gac>Aac p.D224N NM_023919.2 NP_076408.1 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 224 sensory perception of taste integral to membrane taste receptor activity kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 GTGCTGGGGTCTCTGCACCCT 0.517000 23 22 0 0 1 0 0 COLGALT1 79709 broad.mit.edu 37 19 17688023 17688023 + Silent SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr19:17688023G>A ENST00000252599.4 + 7 1089 c.969G>A c.(967-969)gaG>gaA p.E323E NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 CGCCCGCAGAGCCCTCCCGCT 0.667000 7 18 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698690 17698690 + Silent SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr2:17698690G>A ENST00000399080.2 - 1 1016 c.993C>T c.(991-993)taC>taT p.Y331Y NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 331 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TGAGTGATGGGTAGTCATTTT 0.343000 6 81 0 0 1 0 0 SNX27 81609 broad.mit.edu 37 1 151640951 151640951 + Missense_Mutation SNP G G A TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr1:151640951G>A ENST00000368843.3 + 7 1109 c.989G>A c.(988-990)cGt>cAt p.R330H SNX27_ENST00000368838.1_Missense_Mutation_p.R237H|SNX27_ENST00000458013.2_Missense_Mutation_p.R330H|SNX27_ENST00000482791.1_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 330 Ras-associating. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CCTTTAGTACGTAAATTGGCA 0.378000 41 66 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475010 217475010 + RNA DEL G G - TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr2:217475010delG ENST00000441803.1 + 0 195 ttttttttttGAAAGAAAGGC 0.393 2 4 --- --- --- --- DST 667 broad.mit.edu 37 6 56484991 56484994 + Frame_Shift_Del DEL TCTT TCTT - TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr6:56484991_56484994delTCTT ENST00000370765.6 - 23 3945_3948 c.3838_3841delAAGA c.(3838-3843)gafs p.KR1280fs DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 4932 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCATTGTCTCTCTTTCTTCTTAAT 0.338 32 49 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752768 62752768 + RNA DEL T T - TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr7:62752768delT ENST00000331425.6 - 0 667 NR_003952.1 GTATGAATTATTTTATGTGTA 0.383 9 20 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 5 9 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139407856 139407856 + Frame_Shift_Del DEL C C - TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr9:139407856delC ENST00000277541.6 - 14 2416 c.2341delG c.(2341-2343)agfs p.E781fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 781 EGF-like 20. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTGAAGCCCTCCCGGCAGGTG 0.607 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 10 18 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 84036 84053 + RNA DEL GGGAGCCTGGAAGCACAC GGGAGCCTGGAAGCACAC - rs3743872 by1000genomes TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr16:84036_84053delGGGAGCCTGGAAGCACAC ENST00000568710.1 - 0 349 CTTGTCTCTGGGGAGCCTGGAAGCACACGGGCTGGCTA 0.633 6 13 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1219351 1219351 + Frame_Shift_Del DEL G G - rs137853081 TCGA-VV-A829-01A-21D-A36O-08 TCGA-VV-A829-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2412e01f-41e2-48c7-849c-ecc2851b08d4 32471810-2274-4b01-b96f-37db7286333f g.chr19:1219351delG ENST00000326873.7 + 3 1576 c.403delG c.(403-405)gcfs p.G135fs STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 135 Protein kinase. G -> R (in melanoma; sporadic malignant; somatic mutation). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.G135R(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCGTGTGTGGCATGCAGGA 0.682 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 2 4 --- --- --- ---