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 DNAJB8 165721 broad.mit.edu 37 3 128181921 128181921 + Silent SNP C C G TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr3:128181921C>G ENST00000469083.1 - 2 2725 c.168G>C c.(166-168)ctG>ctC p.L56L DNAJB8_ENST00000319153.3_Silent_p.L56L Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 56 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TGGAGTCAGACAGAACCTCAT 0.612 23 218 --- --- --- --- PPP1R3B 79660 broad.mit.edu 37 8 8998648 8998648 + Missense_Mutation SNP A A C TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr8:8998648A>C ENST00000310455.3 - 2 664 c.514T>G c.(514-516)Tac>Gac p.Y172D PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 172 CBM21. glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AAGTCTGTGTAGCTCTTCCAG 0.493 20 156 --- --- --- --- ATP6V0A2 23545 broad.mit.edu 37 12 124236942 124236942 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr12:124236942G>A ENST00000330342.3 + 17 2416 c.2168G>A c.(2167-2169)tGt>tAt p.C723Y NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 723 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) GAAATGGCGTGTGAAGAGGTA 0.343 3 87 --- --- --- --- TLN2 83660 broad.mit.edu 37 15 63008557 63008557 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr15:63008557G>A ENST00000561311.1 + 22 2892 c.2662G>A c.(2662-2664)Gac>Aac p.D888N TLN2_ENST00000306829.6_Missense_Mutation_p.D888N Q9Y4G6 TLN2_HUMAN talin 2 888 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGAGAATGAGGACCAGCAGCA 0.483 3 77 --- --- --- --- STAC2 342667 broad.mit.edu 37 17 37369385 37369385 + Splice_Site SNP C C A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr17:37369385C>A ENST00000333461.5 - 10 1363 c.994G>T c.(994-996)Ggc>Tgc p.G332C NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 332 SH3. intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CCGATCTTGCCCTGGGGATGA 0.612 5 167 --- --- --- --- SCN4A 6329 broad.mit.edu 37 17 62041134 62041134 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr17:62041134G>A ENST00000435607.1 - 10 1580 c.1504C>T c.(1504-1506)Cat>Tat p.H502Y SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 502 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCTTTGCCATGGGCTGGGTCC 0.637 7 22 --- --- --- --- CDK5RAP1 51654 broad.mit.edu 37 20 31961946 31961946 + Missense_Mutation SNP G G A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr20:31961946G>A ENST00000357886.4 - 10 1375 c.1222C>T c.(1222-1224)Cgt>Tgt p.R408C CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 408 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 TCCAACACACGGCTGCTTCCA 0.502 61 372 --- --- --- --- GUSBP11 91316 broad.mit.edu 37 22 23981105 23981105 + RNA SNP A A C TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr22:23981105A>C ENST00000455485.1 - 0 3384 AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA GAACAGAATGACCGACGGGGT 0.562 3 40 --- --- --- --- SUN2 25777 broad.mit.edu 37 22 39134911 39134911 + Nonsense_Mutation SNP C C T TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr22:39134911C>T ENST00000405510.1 - 16 2104 c.1746G>A c.(1744-1746)tgG>tgA p.W582* SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571* NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 582 SUN. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 GGGAGTGGTACCACAGGGGGA 0.637 10 56 --- --- --- --- SERHL2 253190 broad.mit.edu 37 22 42967138 42967138 + Missense_Mutation SNP C C A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr22:42967138C>A ENST00000327678.5 + 10 762 c.660C>A c.(658-660)agC>agA p.S220R SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R|RRP7B_ENST00000357802.2_RNA NM_014509.3 NP_055324.2 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 220 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 CAGAGAACAGCATTGACTTCA 0.537 3 102 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62299581 62299581 + Frame_Shift_Del DEL C C - TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx f54442d1-80fa-4678-ac94-c3ad03bc37fb ba7eb48d-9486-45fc-9728-4ceeb9bdca09 g.chr11:62299581delC ENST00000378024.4 - 5 2582 c.2308delG c.(2308-2310)gatfs p.D770fs AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 770 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGTTCACATCCACTTCTGGG 0.502 46 333 --- --- --- ---