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 FAM58B 339521 broad.mit.edu 37 1 200182943 200182943 + Silent SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr1:200182943C>T uc009wzi.1 + 1 288 c.252C>T c.(250-252)GCC>GCT p.A84A NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 84 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) TTTACTTGGCCGGCAAAGTGG 0.542000 CTSF 8722 broad.mit.edu 37 11 66335480 66335480 + Missense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr11:66335480C>T uc001oip.2 - 2 377 c.287G>A c.(286-288)CGG>CAG p.R96Q NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 96 proteolysis lysosome cysteine-type endopeptidase activity 0 CACGGGGAGCCGGCACACCAT 0.652000 CACNA1C 775 broad.mit.edu 37 12 2566863 2566863 + Missense_Mutation SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr12:2566863G>A uc009zdu.1 + 5 1061 c.748G>A c.(748-750)GGA>AGA p.G250R CACNA1C_uc009zdv.1_Missense_Mutation_p.G250R|CACNA1C_uc001qkb.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkc.2_Missense_Mutation_p.G250R|CACNA1C_uc001qke.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkf.2_Missense_Mutation_p.G250R|CACNA1C_uc001qjz.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkd.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkg.2_Missense_Mutation_p.G250R|CACNA1C_uc009zdw.1_Missense_Mutation_p.G250R|CACNA1C_uc001qkh.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkl.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkn.2_Missense_Mutation_p.G250R|CACNA1C_uc001qko.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkp.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkr.2_Missense_Mutation_p.G250R|CACNA1C_uc001qku.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkq.2_Missense_Mutation_p.G250R|CACNA1C_uc001qks.2_Missense_Mutation_p.G250R|CACNA1C_uc001qkt.2_Missense_Mutation_p.G250R|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 250 I.|Helical; Name=S4 of repeat I; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCTGGTGTCCGGAGTCCCAAG 0.577000 PPP4C 5531 broad.mit.edu 37 16 30094833 30094833 + Missense_Mutation SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr16:30094833G>A uc002dwe.2 + 6 566 c.422G>A c.(421-423)CGC>CAC p.R141H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.R141H|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.R62H NM_002720 NP_002711 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 141 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity skin(1) 1 ACTGTGTGGCGCTACTGCACT 0.587000 RFX1 5989 broad.mit.edu 37 19 14079448 14079448 + Missense_Mutation SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr19:14079448G>A uc002mxv.2 - 12 1933 c.1661C>T c.(1660-1662)GCG>GTG p.A554V NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 554 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CTGCCCCACCGCCACGCCGTT 0.662000 PPP2R3A 5523 broad.mit.edu 37 3 135722102 135722102 + Nonsense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr3:135722102C>T uc003eqv.1 + 2 2327 c.1762C>T c.(1762-1764)CGA>TGA p.R588* PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 588 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 GGAAGAGGATCGAGCCCTCTT 0.408000 SRP72 6731 broad.mit.edu 37 4 57356812 57356812 + Splice_Site SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr4:57356812G>A uc003hbv.2 + 15 1542 c.1502_splice c.e15+1 p.A501_splice SRP72_uc010ihe.2_Splice_Site_p.A440_splice|SRP72_uc003hbw.1_Splice_Site_p.A262_splice NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) AAGCCAAAGCGTATCCTTTTG 0.299000 TIGD4 201798 broad.mit.edu 37 4 153691406 153691406 + Missense_Mutation SNP A A C TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr4:153691406A>C uc003imy.2 - 2 1533 c.751T>G c.(751-753)TGT>GGT p.C251G NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 251 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) GCTTCATAACACACAGGCAAT 0.418000 RXFP3 51289 broad.mit.edu 37 5 33936904 33936904 + Missense_Mutation SNP A A C TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr5:33936904A>C uc003jic.1 + 1 416 c.59A>C c.(58-60)AAG>ACG p.K20T NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 20 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GGCGGGGACAAGCTAGCAGAA 0.597000 DOCK2 1794 broad.mit.edu 37 5 169474616 169474616 + Missense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f g.chr5:169474616C>T uc003maf.2 + 40 4149 c.4069C>T c.(4069-4071)CGG>TGG p.R1357W DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R849W NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1357 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCCTTCCTGCGGGTGAGTTT 0.542000