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 NAPSA 9476 broad.mit.edu 37 19 50868849 50868849 + Silent SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr19:50868849C>T ENST00000253719.2 - 1 238 c.30G>A c.(28-30)ctG>ctA p.L10L NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 10 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) gcagcagcagcaggggttgca 0.602000 3 16 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 40996957 40996957 + Missense_Mutation SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr17:40996957C>T ENST00000253799.3 + 1 341 c.314C>T c.(313-315)gCc>gTc p.A105V AOC2_ENST00000452774.2_Missense_Mutation_p.A105V NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 105 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) AAGGCTGCAGCCCTGGCCCAC 0.682000 18 52 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65311267 65311267 + Nonsense_Mutation SNP T T A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr1:65311267T>A ENST00000342505.4 - 15 2292 c.2044A>T c.(2044-2046)Aaa>Taa p.K682* JAK1_ENST00000465376.1_5'UTR NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 682 Protein kinase 1. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) ACATCGCTTTTCCGGTGCATG 0.488000 Mis ALL 9 166 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 86 0 0 1 0 0 SLC47A2 146802 broad.mit.edu 37 17 19584867 19584867 + Silent SNP G G T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr17:19584867G>T ENST00000350657.5 - 15 1497 c.1323C>A c.(1321-1323)gtC>gtA p.V441V SLC47A2_ENST00000325411.5_Silent_p.V463V|SLC47A2_ENST00000463318.1_5'UTR NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 463 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) TTCTCATTCTGACCACAAAGG 0.537000 13 22 4.3838e-07 4.60861e-07 1 1 0 ANK3 288 broad.mit.edu 37 10 61835916 61835916 + Missense_Mutation SNP G G A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr10:61835916G>A ENST00000280772.1 - 37 4914 c.4723C>T c.(4723-4725)Cgg>Tgg p.R1575W ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1575 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GACATTGTCCGAAAGGATCTA 0.458000 4 185 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58604793 58604793 + Missense_Mutation SNP G G C TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr14:58604793G>C ENST00000267485.7 - 2 1478 c.1284C>G c.(1282-1284)aaC>aaG p.N428K C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 428 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 ACAGGGCATCGTTTTCCTTGG 0.413000 12 81 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146494 5146494 + Missense_Mutation SNP G G C TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr5:5146494G>C ENST00000274181.7 + 3 565 c.427G>C c.(427-429)Gac>Cac p.D143H ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D143H|CTD-2297D10.1_ENST00000514848.1_RNA NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 143 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.D143N(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 ACCGCCAGAGGACTTCTGTTT 0.527000 35 108 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 51013194 51013194 + Missense_Mutation SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr18:51013194C>T ENST00000442544.2 + 26 4380 c.3764C>T c.(3763-3765)aCg>aTg p.T1255M DCC_ENST00000581580.1_Missense_Mutation_p.T890M|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1255 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCGGTGCCAACGCTAGAAAGT 0.512000 12 53 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61256912 61256912 + Missense_Mutation SNP C C T rs61733412 byFrequency TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr18:61256912C>T ENST00000344731.5 + 3 290 c.188C>T c.(187-189)aCg>aTg p.T63M SERPINB13_ENST00000269489.5_Missense_Mutation_p.T63M NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 63 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GAAAAAGAGACGAAGAGCTCA 0.418000 3 16 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36995755 36995755 + Missense_Mutation SNP T T G TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr6:36995755T>G ENST00000274963.8 + 16 1955 c.1784T>G c.(1783-1785)cTg>cGg p.L595R NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 595 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 ATCCCCCTGCTGGGCTACCAG 0.637000 11 33 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 398917 398917 + Missense_Mutation SNP G G A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr6:398917G>A ENST00000380956.4 + 6 853 c.727G>A c.(727-729)Gaa>Aaa p.E243K NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 243 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.E243K(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) AAGGTCTGCCGAAGCCTTGGC 0.592000 T IGH@ MM 6 25 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17851748 17851748 + Missense_Mutation SNP G G A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr2:17851748G>A ENST00000448223.2 - 26 3274 c.3005C>T c.(3004-3006)tCc>tTc p.S1002F SMC6_ENST00000351948.4_Missense_Mutation_p.S1002F|SMC6_ENST00000402989.1_Missense_Mutation_p.S1002F|SMC6_ENST00000381272.4_Missense_Mutation_p.S1028F NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 1002 Ala/Asp-rich (DA-box). DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGACCACAGGGAAAGAATAAA 0.383000 10 36 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20386194 20386194 + Missense_Mutation SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr16:20386194C>T ENST00000302451.4 - 5 879 c.631G>A c.(631-633)Gtc>Atc p.V211I NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 211 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CGCCCAATGACATTGCCAATC 0.433000 33 52 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98574218 98574218 + Missense_Mutation SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr7:98574218C>T ENST00000359863.4 + 54 8260 c.8051C>T c.(8050-8052)cCg>cTg p.P2684L TRRAP_ENST00000355540.3_Missense_Mutation_p.P2666L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2666L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2684 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAGTGCGTGCCGCCAATCCCC 0.592000 11 39 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50421711 50421711 + Missense_Mutation SNP C C A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr3:50421711C>A ENST00000435965.1 - 6 741 c.568G>T c.(568-570)Gac>Tac p.D190Y CACNA2D2_ENST00000479441.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D121Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D190Y Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 190 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TCGATGAAGTCCAGCCTTAGG 0.537000 62 203 1.02016e-41 1.10069e-41 1 1 0 ELOVL6 79071 broad.mit.edu 37 4 111119469 111119469 + Nonsense_Mutation SNP A A T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr4:111119469A>T ENST00000394607.3 - 2 186 c.23T>A c.(22-24)tTa>tAa p.L8* ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.L8*|ELOVL6_ENST00000506461.1_5'UTR Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 8 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) ATATTCTTGTAAAGTCAACAC 0.423000 33 87 0 0 1 0 0 PTX3 5806 broad.mit.edu 37 3 157154853 157154853 + Splice_Site SNP G G A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr3:157154853G>A ENST00000295927.3 + 1 275 c.e1+1 VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACTGAGGACCGTAAGTTCACT 0.423000 37 62 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175362981 175362981 + Missense_Mutation SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr1:175362981C>T ENST00000367674.1 - 6 1999 c.1291G>A c.(1291-1293)Gtg>Atg p.V431M TNR_ENST00000263525.2_Missense_Mutation_p.V431M NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 431 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGCACCTCCACGGTGGTCTCT 0.488000 43 60 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 85 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103412512 103412512 + Splice_Site SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr1:103412512C>T ENST00000358392.2 - 42 3522 c.3204_splice c.e42-1 p.G1069_splice COL11A1_ENST00000370096.3_Splice_Site_p.G1057_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G941_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1018_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1057 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTGGTGAGCCCTAGTATACA 0.448000 7 13 0 0 1 0 0 ESM1 11082 broad.mit.edu 37 5 54281336 54281336 + Missense_Mutation SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr5:54281336C>T ENST00000381405.4 - 1 155 c.10G>A c.(10-12)Gtc>Atc p.V4I ESM1_ENST00000381403.4_Missense_Mutation_p.V4I|ESM1_ENST00000598310.1_Intron NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 4 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) AGCAGCAAGACGCTCTTCATG 0.597000 7 21 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr17:7577141C>A ENST00000420246.2 - 8 929 c.797G>T c.(796-798)gGa>gTa p.G266V TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 266 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) GCTGTTCCGTCCCAGTAGATT 0.517000 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) 3 8 0.115264 0.115264 1 1 0 CDHR1 92211 broad.mit.edu 37 10 85965592 85965592 + Missense_Mutation SNP G G A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr10:85965592G>A ENST00000372117.3 + 10 975 c.872G>A c.(871-873)gGa>gAa p.G291E CDHR1_ENST00000440770.2_Missense_Mutation_p.G50E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G291E NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 291 Cadherin 3. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GGGAACGATGGAGCCTTTGAA 0.572000 OREG0020333 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 22 0 0 1 0 0 TBXA2R 0 broad.mit.edu 37 19 3600433 3600433 + Missense_Mutation SNP A A T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr19:3600433A>T ENST00000375190.4 - 2 593 c.200T>A c.(199-201)cTc>cAc p.L67H TBXA2R_ENST00000589966.1_Missense_Mutation_p.L67H|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L67H NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 67 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) GAGGCCGCAGAGGAAGGTGAG 0.701000 8 21 0 0 1 0 0 DLX3 1747 broad.mit.edu 37 17 48072109 48072109 + Missense_Mutation SNP T T G TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr17:48072109T>G ENST00000434704.2 - 1 479 c.254A>C c.(253-255)gAa>gCa p.E85A NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 85 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 GTAGGTATATTCCGACTTGGG 0.637000 11 38 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185997730 185997730 + Silent SNP G G A TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr3:185997730G>A ENST00000265022.3 - 9 1241 c.702C>T c.(700-702)taC>taT p.Y234Y DGKG_ENST00000382164.4_Silent_p.Y234Y|DGKG_ENST00000344484.4_Silent_p.Y234Y|DGKG_ENST00000544847.1_Silent_p.Y234Y NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 234 EF-hand 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CGTCCCGGTCGTAGTCCATCC 0.507000 5 125 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 35 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572595 101572595 + Missense_Mutation SNP A A C TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr3:101572595A>C ENST00000326172.5 + 5 1340 c.1225A>C c.(1225-1227)Aac>Cac p.N409H NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N309H|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N287H NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 409 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 AAATCCAATGAACACCACACA 0.483000 22 36 0 0 1 0 0 CNN1 1264 broad.mit.edu 37 19 11660241 11660241 + Missense_Mutation SNP C C T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr19:11660241C>T ENST00000592923.1 + 7 1032 c.455C>T c.(454-456)gCg>gTg p.A152V CNN1_ENST00000544952.1_Missense_Mutation_p.A182V|CNN1_ENST00000535659.2_Missense_Mutation_p.A152V|CNN1_ENST00000252456.2_Missense_Mutation_p.A202V P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 202 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding p.A202V(1) breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 CTGGACCAGGCGACCATCAGC 0.682000 7 25 0 0 1 0 0 DPH7 92715 broad.mit.edu 37 9 140459546 140459546 + Missense_Mutation SNP G G C TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr9:140459546G>C ENST00000277540.2 - 6 858 c.701C>G c.(700-702)aCc>aGc p.T234S DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 CCTTTTGCTGGTGAAGAGAAA 0.612000 9 19 0 0 1 0 0 SOX13 9580 broad.mit.edu 37 1 204092884 204092884 + Missense_Mutation SNP C C G rs61825749 TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr1:204092884C>G ENST00000367204.1 + 12 1436 c.1327C>G c.(1327-1329)Ctg>Gtg p.L443V NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 443 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GAGGAAGATCCTGCAAGCCTT 0.602000 OREG0014126 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 36 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452646 43452647 + Frame_Shift_Ins INS - - C TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr2:43452646_43452647insC ENST00000282388.3 - 2 589_590 c.296_297insG c.(295-297)gacfs p.D99fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 99 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CCTTAAGGGTGCCGTAGGAGGT 0.718 5 10 --- --- --- --- PHF2 5253 broad.mit.edu 37 9 96439004 96439005 + In_Frame_Ins INS - - CCTGCCTCCACCACA rs75653373 by1000genomes TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr9:96439004_96439005insCCTGCCTCCACCACA ENST00000359246.4 + 21 3328_3329 c.2961_2962insCCTGCCTCCACCACA c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc p.987_988TG>TLPPPHG PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 987 Ser/Thr-rich. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding p.T987_P988insPASTT(1)|p.T987T(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) cctctaccaccccggcctccac 0.688 3 2 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89403730 89403731 + RNA INS - - AAAC TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr11:89403730_89403731insAAAC ENST00000532352.1 + 0 994 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aaagtgaaTCAaaacaaacaaa 0.347 5 8 --- --- --- --- ACTN1 87 broad.mit.edu 37 14 69343829 69343833 + Frame_Shift_Del DEL CATGA CATGA - TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr14:69343829_69343833delCATGA ENST00000193403.6 - 20 2869_2873 c.2486_2490delTCATG c.(2485-2490)gfs p.VM829fs ACTN1_ENST00000438964.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000376839.3_Frame_Shift_Del_p.VM759fs|ACTN1_ENST00000538545.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000394419.4_Frame_Shift_Del_p.VM851fs NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 829 focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TGAAGGAAGCCATGACTTGGTCTGC 0.576 13 19 --- --- --- --- RP11-53I6.2 0 broad.mit.edu 37 18 29656287 29656288 + RNA INS - - T TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chr18:29656287_29656288insT ENST00000583184.1 + 0 539 ttgtttttttgttttttttttg 0.441 2 4 --- --- --- --- RP11-258C19.5 0 broad.mit.edu 37 X 53142506 53142507 + RNA INS - - A rs146094031 TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chrX:53142506_53142507insA ENST00000604849.1 + 0 96 AAAACACACACACAAAAAAAAA 0.356 3 3 --- --- --- --- ALG13 79868 broad.mit.edu 37 X 110952229 110952229 + Frame_Shift_Del DEL A A - TCGA-G9-A9S0-01A-11D-A41K-08 TCGA-G9-A9S0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9650173-3de9-42ae-9cb3-0cc866860256 485bddad-e180-4a6e-ae2c-bf6336fa9bd2 g.chrX:110952229delA ENST00000394780.3 + 5 799 c.787delA c.(787-789)agfs p.K263fs ALG13_ENST00000251943.4_Frame_Shift_Del_p.K159fs|ALG13-AS1_ENST00000430794.1_RNA NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 263 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 GGAAATCAGGAAGGCTTGTGT 0.403 2 4 --- --- --- ---