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 DHX16 8449 broad.mit.edu 37 6 30633377 30633377 + Missense_Mutation SNP C C T rs139415113 TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr6:30633377C>T ENST00000376442.3 - 5 995 c.800G>A c.(799-801)cGg>cAg p.R267Q NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 267 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 GAGCTCCTGCCGCTCGTGCCG 0.627000 3 43 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161519378 161519378 + Missense_Mutation SNP C C T TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr6:161519378C>T ENST00000392142.4 + 17 3741 c.3593C>T c.(3592-3594)gCt>gTt p.A1198V MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000348824.7_Intron NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1198 Poly-Ala. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) gctgctgctgctgctgttgct 0.597000 6 129 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215823955 215823955 + Silent SNP G G A rs147037435 byFrequency TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr1:215823955G>A ENST00000366943.2 - 65 14708 c.14322C>T c.(14320-14322)agC>agT p.S4774S USH2A_ENST00000307340.3_Silent_p.S4774S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4774 Fibronectin type-III 33. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCCATGGGCGCTGCTGGAGA 0.483000 HNSCC(13;0.011) 16 23 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172642091 172642091 + Silent SNP G G A TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr3:172642091G>A ENST00000351008.3 - 8 1428 c.1245C>T c.(1243-1245)ttC>ttT p.F415F NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 415 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGGTCAGACCGAAAGGTGTTT 0.338000 7 55 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26203255 26203255 + Missense_Mutation SNP G G A TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr2:26203255G>A ENST00000264712.3 - 1 2111 c.1532C>T c.(1531-1533)gCg>gTg p.A511V KIF3C_ENST00000405914.1_Missense_Mutation_p.A511V NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 511 blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTACTTGGCCGCAAGCAGCTC 0.627000 3 21 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 3 28 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 77 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 77 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54556464 54556464 + Frame_Shift_Del DEL C C - TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr15:54556464delC ENST00000545554.1 + 8 3547 c.3547delC c.(3547-3549)cafs p.P1183fs UNC13C_ENST00000537900.1_Frame_Shift_Del_p.P1181fs|UNC13C_ENST00000260323.11_Frame_Shift_Del_p.P1183fs Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1183 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAAAAACCGGCCAGAAGTATT 0.408 2 4 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 3 5 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21142441 21142442 + RNA INS - - A rs71715453 TCGA-S7-A7WU-01A-11D-A35I-08 TCGA-S7-A7WU-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb 7e54767e-763c-4d5f-a1d0-3eed338704c3 g.chr20:21142441_21142442insA ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA TTCATTTCTGGAAAAAAAAAAA 0.366 3 3 --- --- --- ---