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 BCL9L 283149 broad.mit.edu 37 11 118771997 118771997 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr11:118771997G>A ENST00000334801.3 - 6 3419 c.2455C>T c.(2455-2457)Cgg>Tgg p.R819W BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 819 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity p.R819W(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCCCGAACCCGGGCCATCTCC 0.647000 18 46 0 0 0.007413 0 0 SRRT 51593 broad.mit.edu 37 7 100478963 100478963 + Silent SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr7:100478963G>A ENST00000388793.4 + 3 400 c.180G>A c.(178-180)cgG>cgA p.R60R SRRT_ENST00000347433.4_Silent_p.R60R|SRRT_ENST00000432932.1_Silent_p.R60R|SRRT_ENST00000457580.2_Silent_p.R60R NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 60 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.R60R(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ACTATGACCGGAATCGGCGAG 0.592000 17 58 0 0 0.007413 0 0 FGD1 2245 broad.mit.edu 37 X 54497770 54497770 + Missense_Mutation SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:54497770C>T ENST00000375135.3 - 2 1191 c.458G>A c.(457-459)cGg>cAg p.R153Q NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 153 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.R153Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCCCGGTGCCCGCTTCAGTGG 0.627000 10 57 0 0 0.013537 0 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 5 8 0 0 0.001168 0 0 PTPRB 5787 broad.mit.edu 37 12 70960397 70960397 + Missense_Mutation SNP G G T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr12:70960397G>T ENST00000334414.6 - 15 3766 c.3722C>A c.(3721-3723)gCa>gAa p.A1241E PTPRB_ENST00000550358.1_Missense_Mutation_p.A1153E|PTPRB_ENST00000550857.1_Missense_Mutation_p.A933E|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Missense_Mutation_p.A933E|PTPRB_ENST00000551525.1_Missense_Mutation_p.A1240E|PTPRB_ENST00000261266.5_Missense_Mutation_p.A1023E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1023 Fibronectin type-III 14. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.A1023E(6)|p.A1241E(3) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATATCTTTCTGCCACACCAGC 0.423000 5 92 0.00116845 0.00144518 0.001168 1 0 DHDH 27294 broad.mit.edu 37 19 49445800 49445800 + Silent SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr19:49445800C>T ENST00000221403.2 + 5 763 c.723C>T c.(721-723)agC>agT p.S241S DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Silent_p.S102S NM_014475.3 NP_055290.1 Q9UQ10 DHDH_HUMAN dihydrodiol dehydrogenase (dimeric) 241 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity p.S241S(1) central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) CCTCCGTGAGCGGCACCAAGG 0.617000 17 29 0 0 0.004990 0 0 AADACL4 343066 broad.mit.edu 37 1 12726494 12726494 + Silent SNP A A G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr1:12726494A>G ENST00000376221.1 + 4 972 c.972A>G c.(970-972)tcA>tcG p.S324S NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 324 integral to membrane carboxylesterase activity p.S324S(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TAGAAAATTCACCCCTGATAG 0.473000 3 121 0 0 0.004672 0 0 SEC31B 25956 broad.mit.edu 37 10 102256138 102256138 + Silent SNP C C G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr10:102256138C>G ENST00000370345.3 - 18 2284 c.2187G>C c.(2185-2187)cgG>cgC p.R729R NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 729 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane p.R729R(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CATGAGGACCCCGCAGTTGCT 0.587000 23 47 0 0 0.002780 0 0 MYOM3 127294 broad.mit.edu 37 1 24397690 24397690 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr1:24397690G>A ENST00000330966.7 - 25 3232 c.3070C>T c.(3070-3072)Cgg>Tgg p.R1024W MYOM3_ENST00000374434.3_Missense_Mutation_p.R1023W|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.R1023W Q5VTT5 MYOM3_HUMAN myomesin 3 1023 p.R1023W(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) AGCCAAAGCCGCACCTCCCCT 0.552000 OREG0013235 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 23 0 0 0.004672 0 0 F9 2158 broad.mit.edu 37 X 138630558 138630558 + Missense_Mutation SNP A A G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:138630558A>G ENST00000218099.2 + 5 435 c.428A>G c.(427-429)cAg>cGg p.Q143R F9_ENST00000394090.2_Missense_Mutation_p.Q105R NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 143 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity p.Q143R(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AGATGCGAGCAGTTTTGTAAA 0.373000 32 113 0 0 0.012213 0 0 DROSHA 29102 broad.mit.edu 37 5 31526237 31526237 + Missense_Mutation SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr5:31526237T>A ENST00000511367.2 - 4 1047 c.803A>T c.(802-804)gAt>gTt p.D268V DROSHA_ENST00000442743.1_Missense_Mutation_p.D268V|DROSHA_ENST00000344624.3_Missense_Mutation_p.D268V|DROSHA_ENST00000513349.1_Missense_Mutation_p.D268V NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 268 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.D268V(1) breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 TCGGTCATAATCAGATCTGTA 0.582000 19 102 0 0 0.008871 0 0 GSTM3 2947 broad.mit.edu 37 1 110280922 110280922 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr1:110280922G>A ENST00000540225.1 - 5 566 c.256C>T c.(256-258)Cgc>Tgc p.R86C GSTM3_ENST00000361066.2_Missense_Mutation_p.R86C|GSTM3_ENST00000256594.3_Missense_Mutation_p.R86C|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 86 GST N-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding p.R86C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TTGTGCTTGCGAGCGATGTAG 0.517000 20 37 0 0 0.010504 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 26 0 0 0.009096 0 0 LRRC2 79442 broad.mit.edu 37 3 46593057 46593057 + Missense_Mutation SNP C C A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr3:46593057C>A ENST00000395905.3 - 2 417 c.25G>T c.(25-27)Gac>Tac p.D9Y LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.D9Y NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 9 p.D9Y(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) ACAGAAATGTCGAAGACAACC 0.398000 28 59 1.16021e-09 1.51472e-09 0.007291 1 0 TRAV2 28691 broad.mit.edu 37 14 22180975 22180975 + RNA SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr14:22180975T>A ENST00000390424.2 + 0 257 GCAGGGACGATACAACATGAC 0.517000 58 203 0 0 0.014410 0 0 OR4K2 390431 broad.mit.edu 37 14 20344588 20344588 + Missense_Mutation SNP C C A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr14:20344588C>A ENST00000298642.2 + 1 198 c.162C>A c.(160-162)caC>caA p.H54Q NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H54Q(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGACCCTCACCTACACTCTC 0.403000 141 158 2.39329e-74 3.21385e-74 0.014410 1 0 DNER 92737 broad.mit.edu 37 2 230312248 230312248 + Missense_Mutation SNP C C T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr2:230312248C>T ENST00000341772.4 - 8 1404 c.1270G>A c.(1270-1272)Gga>Aga p.G424R NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 424 EGF-like 5. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.G424R(1) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAAGCAGATCCGAAGTATCCT 0.453000 5 21 0 0 0.000602 0 0 ARHGAP4 393 broad.mit.edu 37 X 153173206 153173206 + Missense_Mutation SNP C C G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:153173206C>G ENST00000370028.3 - 23 2995 c.2938G>C c.(2938-2940)Gac>Cac p.D980H ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D762H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D919H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.D940H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D917H NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 940 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.D940H(1)|p.D980H(1) central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGTCGTGTCTAGGCCCTGG 0.716000 5 45 0 0 0.000602 0 0 CUL4B 8450 broad.mit.edu 37 X 119664014 119664014 + Silent SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chrX:119664014T>A ENST00000371322.5 - 19 2596 c.2535A>T c.(2533-2535)acA>acT p.T845T CUL4B_ENST00000404115.3_Silent_p.T863T|CUL4B_ENST00000336592.6_Silent_p.T850T NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 863 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding p.T863T(1)|p.T845T(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGTGGCTAAGTGTCTTTCTCA 0.358000 72 356 0 0 0.014410 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146030242 146030242 + Nonsense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr5:146030242G>A ENST00000394413.3 - 5 1063 c.493C>T c.(493-495)Cga>Tga p.R165* PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R165*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R154*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R154*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R223*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R165*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R171*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R231*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R165*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R168* Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 165 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.R168*(1)|p.R223*(1)|p.R165*(1)|p.R154*(1) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AATACTCTTCGTGGGGTGGCC 0.478000 6 45 0 0 0.001984 0 0 MYH2 4620 broad.mit.edu 37 17 10436696 10436696 + Nonsense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr17:10436696G>A ENST00000245503.5 - 21 2731 c.2347C>T c.(2347-2349)Cga>Tga p.R783* CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Nonsense_Mutation_p.R783*|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 783 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R783*(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTGTCATCTCGCATCTCCTCT 0.488000 24 71 0 0 0.002780 0 0 STAG3 10734 broad.mit.edu 37 7 99796940 99796940 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr7:99796940G>A ENST00000426455.1 + 15 1930 c.1523G>A c.(1522-1524)cGg>cAg p.R508Q STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.R450Q|STAG3_ENST00000317296.5_Missense_Mutation_p.R508Q Q9UJ98 STAG3_HUMAN stromal antigen 3 508 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding p.R508Q(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGGGGCTCGGCTGAAGGAC 0.562000 10 49 0 0 0.010729 0 0 TENM2 57451 broad.mit.edu 37 5 167553836 167553836 + Missense_Mutation SNP G G A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr5:167553836G>A ENST00000519204.1 + 11 2042 c.1924G>A c.(1924-1926)Gca>Aca p.A642T CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.A531T|TENM2_ENST00000545108.1_Missense_Mutation_p.A763T|TENM2_ENST00000403607.2_Missense_Mutation_p.A596T|TENM2_ENST00000518659.1_Missense_Mutation_p.A763T teneurin transmembrane protein 2 p.A596T(1)|p.A642T(1)|p.A763T(1) CTGGACAGGCGCAGCGTGTGA 0.577000 5 19 0 0 0.000602 0 0 ARRB2 409 broad.mit.edu 37 17 4623596 4623596 + Splice_Site SNP T T G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr17:4623596T>G ENST00000269260.2 + 12 1234 c.e12+2 ARRB2_ENST00000412477.3_Splice_Site|ARRB2_ENST00000574954.1_Splice_Site|ARRB2_ENST00000571206.1_Splice_Site|ARRB2_ENST00000381488.6_Splice_Site|ARRB2_ENST00000572457.1_Splice_Site|ARRB2_ENST00000575877.1_Splice_Site|ARRB2_ENST00000346341.2_Splice_Site NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding p.?(1) large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TCGAGGCGGGTGAGTGTCATG 0.607000 6 21 0 0 0.002450 0 0 U2AF2 11338 broad.mit.edu 37 19 56166481 56166481 + Missense_Mutation SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr19:56166481T>A ENST00000450554.2 + 1 970 c.11T>A c.(10-12)tTc>tAc p.F4Y U2AF2_ENST00000308924.4_Missense_Mutation_p.F4Y NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 4 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.F4Y(1) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ATGTCGGACTTCGACGAGTTC 0.692000 4 17 0 0 0.009096 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152224 11152224 + Missense_Mutation SNP A A G TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr19:11152224A>G ENST00000358026.2 + 31 4792 c.4508A>G c.(4507-4509)aAg>aGg p.K1503R SMARCA4_ENST00000444061.3_Missense_Mutation_p.K1438R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1441R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K1471R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K1441R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1441R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1441R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K1438R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K1471R NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1471 Bromo. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.K1503R(1)|p.K1471R(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCCGTGATCAAGTACAAGGAC 0.612000 """F, N, Mis""" NSCLC 10 17 0 0 0.008291 0 0 PSME1 5720 broad.mit.edu 37 14 24607425 24607425 + Missense_Mutation SNP G G C TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr14:24607425G>C ENST00000382708.3 + 8 543 c.480G>C c.(478-480)atG>atC p.M160I PSME1_ENST00000559123.1_Start_Codon_SNP_p.M1I|PSME1_ENST00000206451.6_Missense_Mutation_p.M160I|PSME1_ENST00000561435.1_Missense_Mutation_p.M160I NM_176783.1 NP_788955.1 Q06323 PSME1_HUMAN proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) 160 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex p.M160I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(265;0.00831) TTGAGCTGATGACCAGCCTCC 0.502000 15 338 0 0 0.002450 0 0 NUP214 8021 broad.mit.edu 37 9 134070639 134070639 + Missense_Mutation SNP A A T TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr9:134070639A>T ENST00000359428.5 + 28 3823 c.3679A>T c.(3679-3681)Ata>Tta p.I1227L NUP214_ENST00000411637.2_Missense_Mutation_p.I1217L|NUP214_ENST00000465486.2_Intron|NUP214_ENST00000451030.1_Missense_Mutation_p.I1228L|NUP214_ENST00000483497.2_Missense_Mutation_p.I53L P35658 NU214_HUMAN nucleoporin 214kDa 1227 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding p.I1227L(1) NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAATTTTGGGATAATCACACC 0.358000 T """DEK, SET, ABL1""" """AML, T-ALL""" 38 91 0 0 0.006230 0 0 PDE9A 5152 broad.mit.edu 37 21 44185571 44185571 + Frame_Shift_Del DEL T T - TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr21:44185571delT ENST00000291539.6 + 15 1383 c.1323delT c.(1321-1323)aafs p.N441fs PDE9A_ENST00000328862.6_Frame_Shift_Del_p.N415fs|PDE9A_ENST00000398225.3_Frame_Shift_Del_p.N400fs|PDE9A_ENST00000539837.1_Frame_Shift_Del_p.N313fs|PDE9A_ENST00000398236.3_Frame_Shift_Del_p.N355fs|PDE9A_ENST00000398232.3_Frame_Shift_Del_p.N374fs|PDE9A_ENST00000398234.3_Frame_Shift_Del_p.N340fs|PDE9A_ENST00000335512.4_Frame_Shift_Del_p.N381fs|PDE9A_ENST00000398229.3_Frame_Shift_Del_p.N307fs|PDE9A_ENST00000398227.3_Frame_Shift_Del_p.N281fs|PDE9A_ENST00000349112.3_Frame_Shift_Del_p.N313fs|PDE9A_ENST00000380328.2_Frame_Shift_Del_p.N388fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Frame_Shift_Del_p.N339fs|PDE9A_ENST00000398224.3_Frame_Shift_Del_p.N314fs NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 441 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 AAATGGAGAATTTTGACTACA 0.488 11 30 --- --- --- --- TOB2 10766 broad.mit.edu 37 22 41832900 41832915 + Frame_Shift_Del DEL CAGGGAGCTGTCCTGG CAGGGAGCTGTCCTGG - TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac7ab3b3-eb76-4da9-bfb3-82b90c8d79d6 e9484e5a-eafe-46c4-8a65-30f102f6b1f4 g.chr22:41832900_41832915delCAGGGAGCTGTCCTGG ENST00000327492.3 - 2 1141_1156 c.435_450delCCAGGACAGCTCCCTG c.(433-450)agfs p.SQDSSL145fs NM_016272.3 NP_057356.1 Q14106 TOB2_HUMAN transducer of ERBB2, 2 145 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus p.L150L(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GGGAGTTGGACAGGGAGCTGTCCTGGCTGCCAATGG 0.616 16 36 --- --- --- ---