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 AVP 551 broad.mit.edu 37 20 3065235 3065235 + Missense_Mutation SNP C C T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr20:3065235C>T ENST00000380293.3 - 1 135 c.86G>A c.(85-87)gGc>gAc p.G29D NM_000490.4 NP_000481.2 P01185 NEU2_HUMAN arginine vasopressin 29 cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport cytosol|soluble fraction caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding central_nervous_system(1)|prostate(1)|skin(1) 3 COAD - Colon adenocarcinoma(99;0.00643) GGCCCTCTTGCCGCCCCTCGG 0.652000 4 180 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87679266 87679266 + Missense_Mutation SNP C C T rs150490913 TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr8:87679266C>T ENST00000320005.5 - 6 786 c.739G>A c.(739-741)Gca>Aca p.A247T NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 247 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATGTTGTCTGCGGTTTGATAT 0.443000 3 28 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 3 21 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100234996 100234996 + Silent SNP G G A TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr4:100234996G>A ENST00000305046.8 - 6 877 c.810C>T c.(808-810)atC>atT p.I270I ADH1B_ENST00000394887.3_Silent_p.I230I P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 270 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CAAGCCGACCGATGACTTCAA 0.438000 5 196 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82580363 82580363 + Missense_Mutation SNP C C G TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr7:82580363C>G ENST00000423517.2 - 6 9878 c.9541G>C c.(9541-9543)Gtt>Ctt p.V3181L PCLO_ENST00000333891.8_Missense_Mutation_p.V3181L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3112 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAAGTGGGAACAGAGTCTATC 0.433000 7 23 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125301206 125301206 + Missense_Mutation SNP A A T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr11:125301206A>T ENST00000298282.9 + 13 1608 c.1337A>T c.(1336-1338)gAg>gTg p.E446V PKNOX2_ENST00000542175.1_Missense_Mutation_p.E382V|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 446 Asp/Glu-rich (acidic). nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) gaggaggaggaggagctggag 0.582000 3 20 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152682119 152682119 + Silent SNP G G A TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr4:152682119G>A ENST00000263985.6 - 1 56 c.16C>T c.(16-18)Ctg>Ttg p.L6L PET112_ENST00000508611.1_Silent_p.L6L|PET112_ENST00000512306.1_Silent_p.L6L|PET112_ENST00000515812.1_Silent_p.L6L NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 6 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCCAGCGCAGCATGGGCGCC 0.602000 6 43 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 206 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141414151 141414151 + Missense_Mutation SNP C C T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr7:141414151C>T ENST00000397541.2 + 2 891 c.485C>T c.(484-486)tCc>tTc p.S162F WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 162 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) ACTCCAGAGTCCTATAAAAAA 0.423000 4 174 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069495 9069495 + Missense_Mutation SNP G G T TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr19:9069495G>T ENST00000397910.4 - 3 18154 c.17951C>A c.(17950-17952)cCa>cAa p.P5984Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5986 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTTGCACTTGGTAAGGAGCT 0.483000 45 75 4.44401e-20 4.6909e-20 1 1 0 ADH6 130 broad.mit.edu 37 4 100126143 100126143 + Missense_Mutation SNP T T G TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr4:100126143T>G ENST00000394899.2 - 8 1135 c.1042A>C c.(1042-1044)Act>Cct p.T348P RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139P|ADH6_ENST00000237653.7_Missense_Mutation_p.T348P NM_001102470.1 NP_001095940.1 P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 348 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) AGAGTATGAGTAATTAGTGGA 0.358000 33 67 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 29 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6478231 6478231 + Missense_Mutation SNP C C T rs145197784 TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr11:6478231C>T ENST00000525074.1 - 6 1119 c.725G>A c.(724-726)cGc>cAc p.R242H TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.R242H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R123H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R242H|TRIM3_ENST00000529058.1_5'UTR NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 242 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGACCCTGGCGCAGTGTGTC 0.607000 4 44 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 3 21 0 0 1 0 0 ADH6 130 broad.mit.edu 37 4 100126142 100126142 + Missense_Mutation SNP G G A TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr4:100126142G>A ENST00000394899.2 - 8 1136 c.1043C>T c.(1042-1044)aCt>aTt p.T348I RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139I|ADH6_ENST00000237653.7_Missense_Mutation_p.T348I NM_001102470.1 NP_001095940.1 P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 348 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) CAGAGTATGAGTAATTAGTGG 0.358000 29 69 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762772 24762772 + Missense_Mutation SNP G G A rs147538283 TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr10:24762772G>A ENST00000376451.2 + 2 876 c.616G>A c.(616-618)Gct>Act p.A206T KIAA1217_ENST00000396445.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A488T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A409T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A408T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A206T Q5T5P2 SKT_HUMAN KIAA1217 488 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGACATGCACGCTCACTATAA 0.557000 29 57 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803276 142803278 + RNA DEL AAC AAC - TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr1:142803276_142803278delAAC ENST00000423385.1 - 0 1687_1689 ACCAAACCAAaacaacaacaaca 0.345 5 9 --- --- --- --- LOC153910 153910 broad.mit.edu 37 6 142860298 142860299 + RNA INS - - T rs143051118 by1000genomes TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr6:142860298_142860299insT ENST00000447311.1 - 0 364 NR_027312.1 ttaggccagtatttttttttta 0.470 2 4 --- --- --- --- EBLN1 340900 broad.mit.edu 37 10 22498484 22498485 + In_Frame_Ins INS - - AGA rs145490621 by1000genomes TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr10:22498484_22498485insAGA ENST00000422359.2 - 1 465_466 c.428_429insTCT c.(427-429)cat>cTCTat p.143_143H>LY NM_001199938.1 NP_001186867.1 endogenous Bornavirus-like nucleoprotein 1 CAATGCCTATCAGATCACAGCA 0.455 6 4 --- --- --- --- MIR3648-2 103504731 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-S7-A7X1-01A-11D-A35I-08 TCGA-S7-A7X1-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25859f3e-0562-41a7-a001-0aecb18582e8 1c13a14a-b7b7-46ff-ba7f-44ced8faa80b g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 4 3 --- --- --- ---