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 ADAM21P1 145241 broad.mit.edu 37 14 70713782 70713782 + RNA SNP A A G rs114580810 by1000genomes TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr14:70713782A>G ENST00000530196.1 - 0 736 NR_003951.1 GTCACCAGCAAATTTTGGTTC 0.443000 4 44 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs71905623 TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chrX:66765161A>T ENST00000374690.3 + 1 697 c.173A>T c.(172-174)cAg>cTg p.Q58L AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 58 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.667000 Androgen Insensitivity Syndrome 3 24 0 0 1 0 0 CCT2 10576 broad.mit.edu 37 12 69981763 69981763 + Missense_Mutation SNP G G A TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr12:69981763G>A ENST00000543146.2 + 5 651 c.169G>A c.(169-171)Gtt>Att p.V57I CCT2_ENST00000544368.2_Missense_Mutation_p.V104I|CCT2_ENST00000299300.6_Missense_Mutation_p.V104I NM_001198842.1 NP_001185771.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 104 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTCTGTTACCGTTTTAGCAGC 0.358000 4 49 0 0 1 0 0 RFNG 5986 broad.mit.edu 37 17 80007802 80007802 + Silent SNP T T C TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr17:80007802T>C ENST00000310496.4 - 5 661 c.654A>G c.(652-654)ccA>ccG p.P218P RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Silent_p.P92P NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 218 cell differentiation|nervous system development|organ morphogenesis|pattern specification process extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) ACCTGGCCCATGGGCTCATCT 0.652000 6 24 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153557888 153557888 + Silent SNP C C T TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chrX:153557888C>T ENST00000369915.3 + 13 1830 c.1641C>T c.(1639-1641)tgC>tgT p.C547C TKTL1_ENST00000217905.7_Silent_p.C287C|TKTL1_ENST00000369912.2_Silent_p.C491C NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 547 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGCTGTCTGCGCAGCCGTCT 0.542000 19 89 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 92 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 2 3 0.115264 0.115264 1 1 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 3 16 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535520 90535520 + RNA SNP C C T TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr9:90535520C>T ENST00000602681.1 + 0 1424 CCACCTCCTCCGAAAGGCTTC 0.592000 5 129 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407669 1407669 + Missense_Mutation SNP G G T TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chrX:1407669G>T ENST00000381524.3 + 6 547 c.361G>T c.(361-363)Gct>Tct p.A121S CSF2RA_ENST00000381509.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A121S|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A121S P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 121 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGGTACCGCTGCTCAGAATTT 0.507000 61 111 1.1794e-34 1.34789e-34 1 1 0 SMYD4 114826 broad.mit.edu 37 17 1686379 1686379 + Silent SNP A A G TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr17:1686379A>G ENST00000305513.7 - 10 2378 c.2211T>C c.(2209-2211)agT>agC p.S737S NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 737 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 CCATTTCAACACTGGACGGCC 0.517000 3 32 0 0 1 0 0 TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 10 36 --- --- --- --- SOX11 6664 broad.mit.edu 37 2 5833526 5833528 + In_Frame_Del DEL GAC GAC - TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr2:5833526_5833528delGAC ENST00000322002.3 + 1 728_730 c.673_675delGAC c.(673-675)del p.D233del NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 233 Poly-Asp. cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) TCTGGATGAGgacgacgacgacg 0.700 2 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708618 180708619 + RNA INS - - A rs56098994 TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr5:180708618_180708619insA ENST00000412295.2 + 0 238 TGAGCGGTAGGCGGGAGCTGGA 0.673 3 6 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50036752 50036752 + Frame_Shift_Del DEL G G - TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr12:50036752delG ENST00000261897.1 + 21 2607 c.2056delG c.(2056-2058)gcfs p.G686fs PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.G699fs|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.G720fs Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 699 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCGAAAGCATGGCAGGAAAGG 0.547 2 4 --- --- --- --- KRT16P4 339244 broad.mit.edu 37 17 18334177 18334177 + RNA DEL T T - TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr17:18334177delT ENST00000580052.1 + 0 43 TTCCTCTCTGTTTTTTTTTTC 0.572 2 4 --- --- --- --- SLFN11 91607 broad.mit.edu 37 17 33690016 33690016 + Frame_Shift_Del DEL T T - TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chr17:33690016delT ENST00000394566.1 - 4 1083 c.811delA c.(811-813)gafs p.R272fs SLFN11_ENST00000308377.4_Frame_Shift_Del_p.R272fs NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 272 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATTTTCCTTCTCAAAGAGTCA 0.398 8 86 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-WB-A81N-01A-11D-A35I-08 TCGA-WB-A81N-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ddf9bf-595c-4757-b485-a145e46b82d6 6f401361-0bfe-4124-95a4-f4f879767977 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 6 --- --- --- ---