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 FUT3 2525 broad.mit.edu 37 19 5844672 5844672 + Missense_Mutation SNP C C G rs148881389 byFrequency TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr19:5844672C>G ENST00000303225.6 - 3 813 c.179G>C c.(178-180)cGc>cCc p.R60P FUT3_ENST00000458379.2_Missense_Mutation_p.R60P|FUT3_ENST00000589620.1_Missense_Mutation_p.R60P|FUT3_ENST00000589918.1_Missense_Mutation_p.R60P NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 60 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GAGGGTGGGGCGGGTGGGAGT 0.632000 9 29 0 0 1 0 0 UTP15 84135 broad.mit.edu 37 5 72865483 72865483 + Missense_Mutation SNP C C T TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr5:72865483C>T ENST00000296792.4 + 5 785 c.530C>T c.(529-531)cCg>cTg p.P177L UTP15_ENST00000508491.1_Missense_Mutation_p.P158L|UTP15_ENST00000543251.1_5'UTR NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 177 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) AAACTTAATCCGGATCTCTTT 0.373000 4 32 0 0 1 0 0 MBD3 53615 broad.mit.edu 37 19 1585131 1585131 + Missense_Mutation SNP G G T TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr19:1585131G>T ENST00000590550.2 - 1 398 c.25C>A c.(25-27)Cgc>Agc p.R9S MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.R65S|MBD3_ENST00000592012.1_Missense_Mutation_p.R33S|MBD3_ENST00000434436.3_Missense_Mutation_p.R65S O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 65 MBD. transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) TTGCCCGTGCGGAAGTCGAAG 0.657000 3 23 1 1 1 1 0 XPO4 64328 broad.mit.edu 37 13 21417934 21417934 + Missense_Mutation SNP T T A TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr13:21417934T>A ENST00000400602.2 - 5 583 c.548A>T c.(547-549)cAt>cTt p.H183L XPO4_ENST00000255305.6_Missense_Mutation_p.H183L NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 183 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GCAGTTACCATGGAATTCCAT 0.338000 6 27 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161864 90161864 + RNA SNP C C T TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr16:90161864C>T ENST00000567960.1 + 0 600 TUBB8P7_ENST00000564451.1_RNA ATGAGACCTTCTGCATAGATA 0.517000 4 46 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36365080 36365080 + Missense_Mutation SNP C C G TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr17:36365080C>G ENST00000312412.4 - 4 514 c.515G>C c.(514-516)cGc>cCc p.R172P RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R17P kidney(1)|lung(3) 4 AGCAGCATAGCGCACCTCTCC 0.368000 6 36 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 34 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080131 54080131 + Missense_Mutation SNP A A T TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr19:54080131A>T ENST00000253144.9 + 7 1650 c.317A>T c.(316-318)aAt>aTt p.N106I ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000411977.2_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I|ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513999.1_Missense_Mutation_p.N106I NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) ATGATCATCAATTATGTCAAA 0.453000 T ? follicular thyroid adenoma 4 48 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158093924 158093924 + Missense_Mutation SNP G G A TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr6:158093924G>A ENST00000359775.5 + 9 2126 c.1237G>A c.(1237-1239)Gcc>Acc p.A413T ZDHHC14_ENST00000414563.2_Missense_Mutation_p.A398T|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 413 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CACACCGCCCGCCTCCATGCC 0.721000 3 14 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 36 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33941374 33941374 + Silent SNP C C T TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr15:33941374C>T ENST00000389232.4 + 31 4150 c.4080C>T c.(4078-4080)gaC>gaT p.D1360D RYR3_ENST00000415757.3_Silent_p.D1360D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1360 4 X approximate repeats.|B30.2/SPRY 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAAAGTTTGACCTGAATAAAA 0.532000 6 102 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195717061 195717061 + RNA SNP C C A TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr3:195717061C>A ENST00000427841.1 - 0 89 NR_003264.2 AGGGACTCACCGCCTTGGCCA 0.791000 4 11 2.56e-06 3.11652e-06 1 1 0 DTNA 1837 broad.mit.edu 37 18 32418795 32418795 + Missense_Mutation SNP C C A TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr18:32418795C>A ENST00000444659.1 + 12 1260 c.1259C>A c.(1258-1260)cCc>cAc p.P420H DTNA_ENST00000591182.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H|DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.P420H|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000597674.1_Intron NM_001390.4 NP_001381.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 420 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 CGGAACAACCCCTCATGGTTA 0.512000 4 32 0.150653 0.156233 1 1 0 ATP2B2 491 broad.mit.edu 37 3 10413688 10413688 + Missense_Mutation SNP C C A TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr3:10413688C>A ENST00000397077.1 - 11 1904 c.1329G>T c.(1327-1329)gaG>gaT p.E443D ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 488 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TGCCCATGGTCTCACAGGCAT 0.572000 6 67 2.0095e-06 2.55754e-06 1 1 0 KCNA3 3738 broad.mit.edu 37 1 111217214 111217214 + Frame_Shift_Del DEL G G - TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr1:111217214delG ENST00000369769.2 - 1 441 c.218delC c.(217-219)cgfs p.P74fs NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 74 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTTGAGGCGGGGCCCCTCC 0.781 3 6 --- --- --- --- NBPF15 284565 broad.mit.edu 37 1 148594507 148594507 + Frame_Shift_Del DEL A A - TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chr1:148594507delA ENST00000442702.2 + 21 2947 c.1880delA c.(1879-1881)ccfs p.H627fs NBPF15_ENST00000369187.3_Frame_Shift_Del_p.H627fs NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 627 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) TCATTCCAGCACTACAGAAGT 0.443 7 318 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578865 154578865 + RNA DEL G G - rs150846040 by1000genomes TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e c0472d02-3ce9-46a1-a7af-29b75e27cb95 g.chrX:154578865delG ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTTCTCTCTGTTTTTTTTTT 0.418 2 4 --- --- --- ---