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 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_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D 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 0.572 6 67 --- --- --- --- 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 0.338 6 27 --- --- --- --- 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 0.532 6 102 --- --- --- --- 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_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.P420H|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H 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 0.512 4 32 --- --- --- --- 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_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000411977.2_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 0.453 T ? follicular thyroid adenoma 4 48 --- --- --- ---