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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 120 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175375785 175375785 + Silent SNP C C T TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr1:175375785C>T ENST00000367674.1 - 3 774 c.66G>A c.(64-66)ctG>ctA p.L22L TNR_ENST00000263525.2_Silent_p.L22L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 22 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCATGGAGCCCAGAAGGATCA 0.542000 4 137 0 0 1 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 3 85 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34923934 34923934 + Silent SNP T T C rs142825273 by1000genomes TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr21:34923934T>C ENST00000356577.4 + 3 2872 c.2397T>C c.(2395-2397)agT>agC p.S799S SON_ENST00000300278.4_Silent_p.S799S|SON_ENST00000381679.4_Silent_p.S799S|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.S799S NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 799 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.S799S(4) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TAGCAACCAGTTCCATGGACT 0.507000 5 213 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205138795 205138795 + Missense_Mutation SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr1:205138795A>G ENST00000367162.3 - 3 850 c.820T>C c.(820-822)Ttt>Ctt p.F274L DSTYK_ENST00000367160.4_Missense_Mutation_p.F274L|DSTYK_ENST00000367161.3_Missense_Mutation_p.F274L NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 274 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AATACAGGAAAGGAGAAATAC 0.453000 21 38 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 60 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18490305 18490305 + Missense_Mutation SNP T T C TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr8:18490305T>C ENST00000440756.2 - 11 2336 c.2234A>G c.(2233-2235)gAg>gGg p.E745G PSD3_ENST00000286485.8_Missense_Mutation_p.E209G|PSD3_ENST00000428502.2_Missense_Mutation_p.E72G|PSD3_ENST00000327040.8_Missense_Mutation_p.E743G|PSD3_ENST00000523619.1_Missense_Mutation_p.E678G Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 744 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTTTTTTTTCTCTTCATCATC 0.358000 19 21 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 5 119 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 8 69 0 0 1 0 0 IGKV2-24 28923 broad.mit.edu 37 2 89476089 89476089 + RNA SNP G G A TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr2:89476089G>A ENST00000484817.1 - 0 112 TGAGGAGAGTGGAGTCTGGGT 0.448000 5 69 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48647153 48647153 + Missense_Mutation SNP T T C TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr19:48647153T>C ENST00000263274.7 - 10 1263 c.844A>G c.(844-846)Aaa>Gaa p.K282E LIG1_ENST00000536218.1_Missense_Mutation_p.K214E|LIG1_ENST00000427526.2_Missense_Mutation_p.K251E NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 282 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TGGCCCGGTTTCCAGCAGGCA 0.532000 Nucleotide excision repair (NER) 26 44 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103027262 103027262 + Missense_Mutation SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr11:103027262A>G ENST00000375735.2 + 26 4034 c.3890A>G c.(3889-3891)gAt>gGt p.D1297G DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1297G|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1297 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GACTGGAAAGATATAGTAAAT 0.343000 24 22 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50208514 50208514 + Missense_Mutation SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr19:50208514A>G ENST00000392518.4 + 10 1295 c.923A>G c.(922-924)gAg>gGg p.E308G CPT1C_ENST00000405931.2_Missense_Mutation_p.E297G|CPT1C_ENST00000323446.5_Missense_Mutation_p.E308G|CPT1C_ENST00000598293.1_Missense_Mutation_p.E308G|CPT1C_ENST00000354199.5_Missense_Mutation_p.E308G NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 308 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GCCCAGTACGAGAAGATCTTC 0.562000 36 60 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4615722 4615722 + Missense_Mutation SNP G G A TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr11:4615722G>A ENST00000450052.2 + 2 526 c.526G>A c.(526-528)Gtc>Atc p.V176I OR52I1_ENST00000530443.2_Missense_Mutation_p.V152I Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGTATGGCCGTCACCATCAG 0.488000 3 47 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180365982 180365982 + Silent SNP A A G TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr3:180365982A>G ENST00000273654.4 - 16 2204 c.1585T>C c.(1585-1587)Ttg>Ctg p.L529L CCDC39_ENST00000442201.2_Silent_p.L445L Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 445 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGCTGCTTCAAGGTTTCAAAA 0.343000 7 15 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23104385 23104385 + Frame_Shift_Del DEL G G - TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr8:23104385delG ENST00000397677.1 + 2 825 c.177delG c.(175-177)ttfs p.L59fs CHMP7_ENST00000313219.7_Frame_Shift_Del_p.L59fs NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 59 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GGGCGCCGTTGGTGCTGAGCC 0.667 OREG0018633 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- MIDN 90007 broad.mit.edu 37 19 1254406 1254407 + Frame_Shift_Ins INS - - C TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chr19:1254406_1254407insC ENST00000300952.2 + 5 1140_1141 c.625_626insC c.(625-627)cccfs p.P209fs MIDN_ENST00000591446.2_Frame_Shift_Ins_p.P209fs NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 209 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)|STAD - Stomach adenocarcinoma(1328;0.18) CACCAGCCCGTCCCCTGCATCT 0.738 2 4 --- --- --- --- OPN1MW2 728458 broad.mit.edu 37 X 153496178 153496178 + Frame_Shift_Del DEL G G - TCGA-WB-A80Y-01A-11D-A35I-08 TCGA-WB-A80Y-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1 36e38cc8-de46-486b-8069-c0b596a0de22 g.chrX:153496178delG ENST00000369929.4 + 5 966 c.906delG c.(904-906)ttfs p.L302fs NM_001048181.2 NP_001041646.1 opsin 1 (cone pigments), medium-wave-sensitive 2 haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1) 6 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCACCCTTTGATGGCTGCCC 0.547 71 82 --- --- --- ---