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 CROCCP2 84809 broad.mit.edu 37 1 16946368 16946368 + RNA SNP A A G TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr1:16946368A>G ENST00000412962.1 - 0 1151 GGCCAGGAGGAGGCCCTCGTC 0.667 2 16 --- --- --- --- ZNF683 257101 broad.mit.edu 37 1 26691329 26691329 + Silent SNP C C A TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr1:26691329C>A ENST00000436292.1 - 4 828 c.708G>T c.(706-708)ctG>ctT p.L236L ZNF683_ENST00000374204.1_Silent_p.L236L|ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000403843.1_Silent_p.L236L Q8IZ20 ZN683_HUMAN zinc finger protein 683 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L236L(1)|p.L221L(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) CCATCATCAGCAGGCTAGGCA 0.632 13 119 --- --- --- --- CYR61 3491 broad.mit.edu 37 1 86048170 86048170 + Missense_Mutation SNP T T C TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr1:86048170T>C ENST00000451137.2 + 4 930 c.706T>C c.(706-708)Tgg>Cgg p.W236R NM_001554.4 NP_001545.2 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 236 TSP type-1. cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding p.W236R(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) AACAACTTCATGGTCCCAGTG 0.458 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 110 --- --- --- --- PDK1 5163 broad.mit.edu 37 2 173457705 173457705 + Missense_Mutation SNP C C A TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr2:173457705C>A ENST00000282077.3 + 10 1281 c.1099C>A c.(1099-1101)Caa>Aaa p.Q367K PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K|PDK1_ENST00000410055.1_Missense_Mutation_p.Q367K Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase, isozyme 1 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.Q367K(1) central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) TCTTTACGCACAATACTTCCA 0.378 Autosomal Dominant Polycystic Kidney Disease 4 160 --- --- --- --- CHPF 79586 broad.mit.edu 37 2 220406592 220406592 + Missense_Mutation SNP G G T TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr2:220406592G>T ENST00000243776.6 - 2 882 c.634C>A c.(634-636)Cta>Ata p.L212I CHPF_ENST00000373891.2_Missense_Mutation_p.L212I|CHPF_ENST00000535926.1_Missense_Mutation_p.L50I NM_024536.5 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 212 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding p.L212I(1) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGGCCAGTTAGGCGTGCCAGG 0.706 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 30 --- --- --- --- JADE2 23338 broad.mit.edu 37 5 133914476 133914476 + Silent SNP G G A TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr5:133914476G>A ENST00000395003.1 + 11 2021 c.1842G>A c.(1840-1842)ggG>ggA p.G614G PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000282605.4_Silent_p.G658G NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 614 Pro-rich. histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding p.G614G(1) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGCAGGACGGGCCTGGTTCAC 0.672 5 48 --- --- --- --- DPYSL2 1808 broad.mit.edu 37 8 26484737 26484737 + Missense_Mutation SNP G G A TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr8:26484737G>A ENST00000311151.5 + 6 959 c.547G>A c.(547-549)Gaa>Aaa p.E183K DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000521983.1_3'UTR NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 183 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding p.E183K(1) breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) TCAGATTTATGAAGTACTGAG 0.483 14 55 --- --- --- --- YME1L1 10730 broad.mit.edu 37 10 27436415 27436415 + Silent SNP C C T TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr10:27436415C>T ENST00000477432.1 - 3 1406 c.351G>A c.(349-351)ggG>ggA p.G117G YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 0 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TTTGGAGAAACCCGCAGTGTA 0.468 3 69 --- --- --- --- CNGA4 1262 broad.mit.edu 37 11 6261464 6261464 + Missense_Mutation SNP C C T TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr11:6261464C>T ENST00000379936.2 + 4 555 c.440C>T c.(439-441)gCg>gTg p.A147V CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 147 response to stimulus|sensory perception of smell cAMP binding p.A147V(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTCTCCGCGCGCCCCGCCTC 0.587 5 205 --- --- --- --- SLC2A14 144195 broad.mit.edu 37 12 7982567 7982567 + Missense_Mutation SNP G G A rs145793375 byFrequency TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr12:7982567G>A ENST00000543909.1 - 10 1136 c.377C>T c.(376-378)gCc>gTc p.A126V SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 126 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity p.A126V(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) GCCACCAGTGGCAGCCAACAG 0.478 3 69 --- --- --- --- POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917323 89917323 + Missense_Mutation SNP C C G TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr12:89917323C>G ENST00000548729.1 - 3 1297 c.995G>C c.(994-996)gGa>gCa p.G332A POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G335A|GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 p.G335A(1) GTTTTCACCTCCCCACACTTC 0.522 42 257 --- --- --- --- NOX5 79400 broad.mit.edu 37 15 69348910 69348910 + Missense_Mutation SNP C C A TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr15:69348910C>A ENST00000260364.5 + 17 2419 c.2118C>A c.(2116-2118)ttC>ttA p.F706L NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000388866.3_Missense_Mutation_p.F724L|NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 724 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity p.F706L(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TCCAGGTGTTCCAGAAAGTGG 0.557 26 145 --- --- --- --- HRC 3270 broad.mit.edu 37 19 49656664 49656664 + Splice_Site SNP C C A TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr19:49656664C>A ENST00000252825.4 - 1 2017 c.1831G>T c.(1831-1833)Ggt>Tgt p.G611C HRC_ENST00000595625.1_Splice_Site_p.G611C NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 611 muscle contraction sarcoplasmic reticulum lumen calcium ion binding p.G611C(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GGCCACTTACCTGTGTCCTCA 0.632 3 72 --- --- --- --- NCAM2 4685 broad.mit.edu 37 21 22849736 22849736 + Missense_Mutation SNP A A G TCGA-CH-5746-01A-11D-1576-08 TCGA-CH-5746-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96a30919-cafe-43b9-9f46-226a8a38d246 040ca048-b608-4268-968c-2d436e9293cd g.chr21:22849736A>G ENST00000400546.1 + 15 2270 c.2021A>G c.(2020-2022)tAt>tGt p.Y674C NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 674 Fibronectin type-III 2. neuron cell-cell adhesion integral to membrane|plasma membrane p.Y674C(1) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGATTGGGATATTCTGAACCG 0.368 21 129 --- --- --- ---