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 NUP205 23165 broad.mit.edu 37 7 135289192 135289192 + Missense_Mutation SNP A A T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr7:135289192A>T ENST00000285968.6 + 19 2833 c.2807A>T c.(2806-2808)gAt>gTt p.D936V NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 936 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTGGTTGGAGATTTCACACAT 0.353000 4 67 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179454380 179454380 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr2:179454380C>T ENST00000589042.1 - 304 62296 c.62072G>A c.(62071-62073)aGg>aAg p.R20691K TTN_ENST00000342992.6_Missense_Mutation_p.R18123K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11626K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11751K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19050K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11818K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19050 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAGTCAGGCCTCCGCCACTT 0.443000 5 188 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69416530 69416530 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr4:69416530C>T ENST00000317746.2 - 5 1220 c.1178G>A c.(1177-1179)gGc>gAc p.G393D NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 393 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G393D(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 CAAGGGAATGCCCACCATAGG 0.458000 4 252 0 0 1 0 0 GATAD1 57798 broad.mit.edu 37 7 92083921 92083921 + Missense_Mutation SNP A A G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr7:92083921A>G ENST00000287957.3 + 4 818 c.541A>G c.(541-543)Aag>Gag p.K181E NM_021167.4 NP_066990.3 Q8WUU5 GATD1_HUMAN GATA zinc finger domain containing 1 181 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|lung(3) 6 all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676) STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225) GTATTGCGAGAAGAGTGCAGC 0.443000 28 55 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846144 43846144 + Missense_Mutation SNP T T A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr12:43846144T>A ENST00000389420.3 - 14 2011 c.2012A>T c.(2011-2013)gAt>gTt p.D671V ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D671V NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 671 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTCAACCATATCCTTCAATAG 0.338000 21 29 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8045151 8045151 + Missense_Mutation SNP C C G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr17:8045151C>G ENST00000317276.4 - 22 3809 c.3572G>C c.(3571-3573)gGc>gCc p.G1191A PER1_ENST00000581082.1_Missense_Mutation_p.G1168A NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1191 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 AGGCAGTTGGCCCTTCCGGAC 0.577000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 5 111 0 0 1 0 0 MED26 9441 broad.mit.edu 37 19 16687787 16687787 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr19:16687787G>A ENST00000263390.3 - 3 1116 c.854C>T c.(853-855)gCc>gTc p.A285V CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A293V NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 285 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 CTGCTGCCGGGCAAAGGAGCC 0.672000 3 35 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247492595 247492595 + Silent SNP G G T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr1:247492595G>T ENST00000294753.4 - 3 750 c.286C>A c.(286-288)Cgg>Agg p.R96R ZNF496_ENST00000366498.2_Silent_p.R96R NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 96 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TGGATCTCCCGGGGCAGGATG 0.697000 5 44 0.00116845 0.00123336 1 1 0 MYO5B 4645 broad.mit.edu 37 18 47488727 47488727 + Missense_Mutation SNP C C G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr18:47488727C>G ENST00000285039.7 - 12 1753 c.1454G>C c.(1453-1455)tGg>tCg p.W485S NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 485 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AATCAGGGTCCAAGGGATCTG 0.423000 10 50 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371681 109371681 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr2:109371681T>G ENST00000283195.6 + 17 2558 c.2432T>G c.(2431-2433)cTg>cGg p.L811R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 811 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding p.L811R(2) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AATTCTTTACTGAAAATGATT 0.353000 7 250 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233363071 233363071 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr1:233363071C>T ENST00000258229.8 - 10 2639 c.2405G>A c.(2404-2406)gGa>gAa p.G802E PCNXL2_ENST00000430153.1_Missense_Mutation_p.G101E NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 802 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTTAAATTTTCCTTGTGTTGA 0.398000 3 47 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149510857 149510857 + RNA SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr7:149510857G>A ENST00000378016.2 + 0 10142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGGGTGCTCGGCTGGCAAGG 0.672000 4 40 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50696701 50696701 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr6:50696701T>G ENST00000008391.3 + 4 959 c.731T>G c.(730-732)cTc>cGc p.L244R TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 244 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CCTGAGTGCCTCAATGCTTCA 0.468000 20 61 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826576 34826576 + Missense_Mutation SNP G G C TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr6:34826576G>C ENST00000192788.5 + 14 2614 c.2443G>C c.(2443-2445)Gat>Cat p.D815H UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815H NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 815 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GGATGTAGCAGATGTTCATAT 0.507000 7 161 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183245322 183245322 + Missense_Mutation SNP T T A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr4:183245322T>A ENST00000511685.1 + 2 272 c.149T>A c.(148-150)tTt>tAt p.F50Y TENM3_ENST00000406950.2_Missense_Mutation_p.F50Y teneurin transmembrane protein 3 TTGAAAGCTTTTGATCATGAT 0.507000 5 52 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189063419 189063419 + Missense_Mutation SNP C C A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr4:189063419C>A ENST00000332517.3 + 3 658 c.518C>A c.(517-519)aCt>aAt p.T173N RP11-366H4.3_ENST00000501322.2_RNA NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 173 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GAAACAAAGACTTGTAAACAG 0.423000 8 12 1.12685e-05 1.22344e-05 1 1 0 OFCC1 266553 broad.mit.edu 37 6 9933066 9933066 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr6:9933066G>A ENST00000316020.6 - 4 396 c.397C>T c.(397-399)Ccg>Tcg p.P133S OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) GTGCGATCCGGCATGTCGTGT 0.468000 4 154 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98658492 98658492 + Missense_Mutation SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr13:98658492C>T ENST00000261574.5 + 17 1840 c.1660C>T c.(1660-1662)Cca>Tca p.P554S IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.P536S|IPO5_ENST00000539640.1_Missense_Mutation_p.P411S NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 536 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 TTTATTTATGCCATCACTGAA 0.408000 4 117 0 0 1 0 0 ANAPC7 51434 broad.mit.edu 37 12 110834213 110834213 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr12:110834213T>G ENST00000455511.3 - 2 248 c.248A>C c.(247-249)cAt>cCt p.H83P ANAPC7_ENST00000450008.2_Missense_Mutation_p.H83P|RP11-478C19.2_ENST00000550231.1_RNA NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 83 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 AGAATCTGCATGATACACCAA 0.393000 10 39 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370244 240370244 + Missense_Mutation SNP T T A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr1:240370244T>A ENST00000319653.9 + 5 2362 c.2132T>A c.(2131-2133)cTt>cAt p.L711H NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 711 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CATCAAGGGCTTGAGAATGGA 0.488000 7 44 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133549219 133549219 + Silent SNP C C G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chrX:133549219C>G ENST00000370800.4 + 8 1047 c.906C>G c.(904-906)ccC>ccG p.P302P PHF6_ENST00000416404.2_Intron|PHF6_ENST00000370799.1_Intron|PHF6_ENST00000370803.3_Intron|PHF6_ENST00000332070.3_Intron|PHF6_ENST00000394292.1_Intron NM_032335.3 NP_115711.2 Q8IWS0 PHF6_HUMAN PHD finger protein 6 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) GAGTACATCCCAAATTTATCC 0.284000 """F, N, Splice, Mis""" ETP ALL 6 157 0 0 1 0 0 SDF2 6388 broad.mit.edu 37 17 26976014 26976014 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr17:26976014T>G ENST00000247020.4 - 3 927 c.629A>C c.(628-630)gAg>gCg p.E210A SDF2_ENST00000592250.1_5'UTR NM_006923.3 NP_008854.2 Q99470 SDF2_HUMAN stromal cell-derived factor 2 210 protein glycosylation extracellular space|membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Lung NSC(42;0.00431) GATTCACAGCTCTGCATGGTG 0.527000 6 76 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51393611 51393611 + Silent SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr3:51393611C>T ENST00000266037.9 + 42 4364 c.4341C>T c.(4339-4341)cgC>cgT p.R1447R NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1447 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCTTCTATCGCGTCAACAATG 0.483000 4 50 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 48 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49656694 49656694 + Missense_Mutation SNP A A G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr19:49656694A>G ENST00000252825.4 - 1 1987 c.1801T>C c.(1801-1803)Tcc>Ccc p.S601P HRC_ENST00000595625.1_Missense_Mutation_p.S601P NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 601 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TCCTCGCTGGAGGCACCTCCA 0.642000 9 18 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88248216 88248216 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr9:88248216G>A ENST00000357081.3 - 14 1520 c.1376C>T c.(1375-1377)cCt>cTt p.P459L AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P419L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P297L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P471L Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 459 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GCCTGCCGTAGGAACAACAAT 0.358000 8 93 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162326 33162326 + RNA SNP C C T TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr5:33162326C>T ENST00000510327.1 - 0 346 GCCGCAAAACCGGGGGCAAGA 0.567000 4 32 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75651040 75651040 + Missense_Mutation SNP G G A TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chrX:75651040G>A ENST00000361470.2 + 1 2995 c.2717G>A c.(2716-2718)cGt>cAt p.R906H NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 906 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCTAGAGCCCGTTTGGAAACC 0.483000 4 81 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168912 142168912 + RNA SNP A A G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr7:142168912A>G ENST00000454561.2 - 0 133 AGCCGAGTGAATTCTGGGCCT 0.582000 3 8 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 25 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 4 58 0 0 1 0 0 RP5-884C9.2 0 broad.mit.edu 37 1 38562824 38562825 + RNA DEL AG AG - TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr1:38562824_38562825delAG ENST00000432922.1 + 0 301 ccacagaaacagagagagagag 0.500 4 3 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 3 6 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113146539 113146541 + In_Frame_Del DEL TCT TCT - TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr2:113146539_113146541delTCT ENST00000302558.3 - 20 4172_4174 c.3981_3983delAGA c.(3979-3984)gag>ga p.EE1327del RGPD8_ENST00000409750.1_In_Frame_Del_p.EE1187del NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 TCCATCTCTCTCTTCTTCTTGAG 0.404 2 4 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100874100 100874100 + Frame_Shift_Del DEL G G - TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr8:100874100delG ENST00000358544.2 + 58 11327 c.11216delG c.(11215-11217)tgfs p.W3739fs VPS13B_ENST00000357162.2_Frame_Shift_Del_p.W3714fs|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3739 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAGGAGGAGTGGCGGCGGCAG 0.672 2 4 --- --- --- --- LINC01500 102723742 broad.mit.edu 37 14 59295080 59295080 + RNA DEL G G - TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr14:59295080delG ENST00000553762.1 + 0 129 CCATGCTTCCGGGGAGCTCCT 0.577 2 4 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493647 77493648 + In_Frame_Ins INS - - GCGGCG rs61991619 TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chr14:77493647_77493648insGCGGCG ENST00000238647.3 - 1 1386_1387 c.488_489insCGCCGC c.(487-489)ggc>gCGCCGCgc p.163_163G>APR NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 163 Poly-Ala. nucleus p.A164delA(1) endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GTTCCACCgcagcggcggcggc 0.748 4 3 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123215265 123215265 + Frame_Shift_Del DEL T T - TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10a03f37-2061-4bdd-9482-386663368479 bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6 g.chrX:123215265delT ENST00000371160.1 + 28 3101 c.2811delT c.(2809-2811)aafs p.N937fs STAG2_ENST00000371145.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.N868fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.N937fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Frame_Shift_Del_p.N937fs Q8N3U4 STAG2_HUMAN stromal antigen 2 937 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 ATGGCTATAATTTTGATAGAT 0.308 31 62 --- --- --- ---