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 SAP18 10284 broad.mit.edu 37 13 21721465 21721465 + Missense_Mutation SNP G G A TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr13:21721465G>A ENST00000382533.4 + 4 542 c.503G>A c.(502-504)cGc>cAc p.R168H SAP18_ENST00000607003.1_Missense_Mutation_p.R149H NM_005870.4 NP_005861.2 O00422 SAP18_HUMAN Sin3A-associated protein, 18kDa 149 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|plasma membrane protein binding|transcription corepressor activity p.R149H(1) kidney(1)|large_intestine(1)|lung(4) 6 all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941) CCTTCAGGGCGCATGAGACCA 0.403000 4 117 0 0 0.009096 0 0 NOTCH4 4855 broad.mit.edu 37 6 32171985 32171985 + Missense_Mutation SNP T T G TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr6:32171985T>G ENST00000375023.3 - 19 3185 c.3047A>C c.(3046-3048)cAc>cCc p.H1016P NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1016 EGF-like 26. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GCCTGTGGGGTGGCAGGGCTG 0.617000 7 24 0 0 0.004482 0 0 CCDC89 220388 broad.mit.edu 37 11 85396623 85396623 + Missense_Mutation SNP T T C TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr11:85396623T>C ENST00000316398.3 - 1 697 c.551A>G c.(550-552)gAg>gGg p.E184G NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 184 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGTGAGGGCCTCACACCGGAC 0.587000 3 147 0 0 0.004672 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957562 73957562 + Missense_Mutation SNP G G A TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr4:73957562G>A ENST00000358602.4 - 29 5899 c.5783C>T c.(5782-5784)cCt>cTt p.P1928L ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1815L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1677L NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1928 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGGCCTGACAGGAAACGGACC 0.532000 3 89 0 0 0.004672 0 0 ATAD2 29028 broad.mit.edu 37 8 124382203 124382203 + Translation_Start_Site SNP T T A rs145837201 byFrequency TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr8:124382203T>A ENST00000521903.1 - 0 1153 ATAD2_ENST00000287394.5_Missense_Mutation_p.E263D Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) catcatcatcttcatcatctt 0.368000 3 32 0 0 0.009096 0 0 CYP2U1 113612 broad.mit.edu 37 4 108866315 108866315 + Missense_Mutation SNP C C T TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr4:108866315C>T ENST00000332884.6 + 2 955 c.680C>T c.(679-681)gCc>gTc p.A227V CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V|RP11-286E11.1_ENST00000513071.1_RNA NM_183075.2 NP_898898.1 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 227 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) ATCAGCAATGCCGTCTCTAAC 0.438000 4 76 0 0 0.009096 0 0 MCMBP 79892 broad.mit.edu 37 10 121612707 121612707 + Splice_Site SNP G G A rs111837774 TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr10:121612707G>A ENST00000360003.3 - 6 599 c.e6-1 MCMBP_ENST00000369077.3_Splice_Site|MCMBP_ENST00000466047.1_Intron NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 TAACATAGGCGTTAAACGAAA 0.363000 10 80 0 0 0.008291 0 0 RAI14 26064 broad.mit.edu 37 5 34811917 34811917 + Silent SNP G G A TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr5:34811917G>A ENST00000265109.3 + 9 890 c.603G>A c.(601-603)gtG>gtA p.V201V RAI14_ENST00000397449.1_Silent_p.V194V|RAI14_ENST00000512629.1_Silent_p.V201V|RAI14_ENST00000503673.1_Silent_p.V201V|RAI14_ENST00000428746.2_Silent_p.V201V|RAI14_ENST00000506376.1_Silent_p.V193V|RAI14_ENST00000515799.1_Silent_p.V204V NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 201 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CTAACGCTGTGGAAGCCTTAA 0.378000 7 52 0 0 0.006214 0 0 C10orf12 26148 broad.mit.edu 37 10 98742786 98742786 + Missense_Mutation SNP A A G TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr10:98742786A>G ENST00000286067.2 + 1 1746 c.1639A>G c.(1639-1641)Aaa>Gaa p.K547E NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 547 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AAAACGTTCAAAAAAAGAAGG 0.443000 8 54 0 0 0.004482 0 0 MGAT3 4248 broad.mit.edu 37 22 39883399 39883399 + Missense_Mutation SNP G G A TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr22:39883399G>A ENST00000341184.6 + 2 262 c.47G>A c.(46-48)gGc>gAc p.G16D NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 16 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) TGTATGGCCGGCCTGTGCCTC 0.562000 4 212 0 0 0.009096 0 0 ZNF677 342926 broad.mit.edu 37 19 53740670 53740670 + Missense_Mutation SNP C C T TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr19:53740670C>T ENST00000333952.4 - 5 1475 c.1310G>A c.(1309-1311)gGc>gAc p.G437D ZNF677_ENST00000598513.1_Missense_Mutation_p.G437D Q86XU0 ZN677_HUMAN zinc finger protein 677 437 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AAAAGCCCTGCCACACACATT 0.368000 3 34 0 0 0.004672 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 4 30 0 0 0.009096 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651637 121651637 + Missense_Mutation SNP C C T TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr7:121651637C>T ENST00000393386.2 + 12 2948 c.2537C>T c.(2536-2538)aCt>aTt p.T846I PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 846 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CCACAAGTTACTTCAGCTACC 0.473000 8 126 0 0 0.003080 0 0 VAMP2 6844 broad.mit.edu 37 17 8065639 8065639 + Silent SNP A A C TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr17:8065639A>C ENST00000316509.6 - 2 146 c.51T>G c.(49-51)ggT>ggG p.G17G VAMP2_ENST00000404970.3_5'UTR|RP11-599B13.6_ENST00000498285.1_Silent_p.G17G|VAMP2_ENST00000488857.1_Silent_p.G19G|VAMP2_ENST00000481878.1_Silent_p.G17G NM_014232.2 NP_055047.2 P63027 VAMP2_HUMAN vesicle-associated membrane protein 2 (synaptobrevin 2) 17 energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome Botulinum Toxin Type B(DB00042) CAGGGGGACCACCCTCCCCAG 0.677000 6 49 0 0 0.008291 0 0 MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 7 172 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr16:85682289_85682290insC ENST00000253458.7 + 3 534_535 c.358_359insC c.(358-360)cccfs p.P120fs GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) CGTGCCCAGCACCCCCCCCGTG 0.688 8 81 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 3 6 --- --- --- --- TBC1D3P1-DHX40P1 0 broad.mit.edu 37 17 58090681 58090682 + RNA DEL TT TT - TCGA-CE-A27D-01A-11D-A16O-08 TCGA-CE-A27D-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dad729-7b44-4b6d-b01f-cbcf57244b77 25cd0ba4-5250-45ac-96b5-e16b21a252f8 g.chr17:58090681_58090682delTT ENST00000407042.3 - 0 609 CTCTGAATGATTTTTTTTTTTT 0.455 3 5 --- --- --- ---