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 CACNA1A 773 broad.mit.edu 37 19 13476148 13476148 + Missense_Mutation SNP C C T TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr19:13476148C>T ENST00000360228.5 - 5 766 c.767G>A c.(766-768)tGc>tAc p.C256Y CACNA1A_ENST00000573710.2_Missense_Mutation_p.C256Y NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 256 C -> R (in EA2; dbSNP:rs121908231). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CTCTTCAAAGCAGGTGGTATG 0.453000 19 75 0 0 0.010504 0 0 COL3A1 1281 broad.mit.edu 37 2 189866147 189866147 + Missense_Mutation SNP C C T TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr2:189866147C>T ENST00000304636.3 + 33 2478 c.2308C>T c.(2308-2310)Cct>Tct p.P770S COL3A1_ENST00000317840.5_Missense_Mutation_p.P770S NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 770 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TATTGGTCCTCCTGGCCCAGC 0.373000 5 52 0 0 0.021553 0 0 NMRK1 54981 broad.mit.edu 37 9 77692099 77692099 + Missense_Mutation SNP T T C TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr9:77692099T>C ENST00000376811.1 - 5 619 c.157A>G c.(157-159)Aaa>Gaa p.K53E NMRK1_ENST00000376808.4_Missense_Mutation_p.K49E|NMRK1_ENST00000361092.4_Missense_Mutation_p.K49E Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 49 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity AATCCATTTTTATCTGTCTCT 0.303000 6 112 0 0 0.001984 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 3 41 0 0 0.009096 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 15 0 0 0.004672 0 0 ADAM21P1 0 broad.mit.edu 37 14 70714259 70714259 + RNA SNP A A G rs7144638 by1000genomes TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr14:70714259A>G ENST00000530196.1 - 0 259 NR_003951.1 CACCACTTCCAGGGAAGTGAA 0.527000 3 93 0 0 0.009096 0 0 KIF2A 3796 broad.mit.edu 37 5 61643970 61643970 + Silent SNP A A T TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr5:61643970A>T ENST00000381103.2 + 4 680 c.195A>T c.(193-195)tcA>tcT p.S65S KIF2A_ENST00000407818.3_Silent_p.S85S|KIF2A_ENST00000506857.1_Silent_p.S58S|KIF2A_ENST00000401507.3_Silent_p.S85S|KIF2A_ENST00000509663.2_Intron NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 85 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) CAGCATCCTCAGCCAAAGTAA 0.438000 7 106 0 0 0.001984 0 0 TRIM46 80128 broad.mit.edu 37 1 155156425 155156425 + Missense_Mutation SNP C C T TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr1:155156425C>T ENST00000368382.1 + 10 2107 c.1970C>T c.(1969-1971)aCa>aTa p.T657I TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.T680I|TRIM46_ENST00000545012.1_Missense_Mutation_p.T554I NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 680 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GATGGCCCCACAGCCGGCTGC 0.657000 14 41 0 0 0.016723 0 0 SH2B3 10019 broad.mit.edu 37 12 111885971 111885971 + Silent SNP G G T rs143956445 TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr12:111885971G>T ENST00000341259.2 + 8 1950 c.1593G>T c.(1591-1593)tcG>tcT p.S531S SH2B3_ENST00000538307.1_Silent_p.S329S NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 531 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 TGGTGCCTTCGCCCGAAGAAC 0.637000 4 70 1.23904e-05 2.76962e-05 0.014758 1 0 FLII 2314 broad.mit.edu 37 17 18149649 18149649 + Missense_Mutation SNP C C T TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr17:18149649C>T ENST00000327031.4 - 24 3404 c.3179G>A c.(3178-3180)cGc>cAc p.R1060H FLII_ENST00000545457.2_Missense_Mutation_p.R1005H|FLII_ENST00000379450.4_Missense_Mutation_p.R974H|FLII_ENST00000579294.1_Missense_Mutation_p.R1049H|FLII_ENST00000578558.1_Intron NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 1060 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GCCGTTGGTGCGGATCTGGTA 0.642000 4 66 0 0 0.009096 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756448 56756448 + Missense_Mutation SNP G G T TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr11:56756448G>T ENST00000326855.2 + 1 102 c.60G>T c.(58-60)caG>caT p.Q20H NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q20H(1) breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 TTGGTGCCCAGCATGAGTTTT 0.408000 12 77 3.07112e-06 7.78016e-06 0.010729 1 0 SLC38A7 55238 broad.mit.edu 37 16 58701385 58701385 + Missense_Mutation SNP C C A TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr16:58701385C>A ENST00000570101.1 - 11 2176 c.1293G>T c.(1291-1293)tgG>tgT p.W431C SLC38A7_ENST00000219320.4_Missense_Mutation_p.W431C|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G297V|SLC38A7_ENST00000564010.1_Missense_Mutation_p.W342C|SLC38A7_ENST00000566953.1_5'UTR Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 431 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 TGACCAGCACCCACCAGCTGT 0.498000 10 39 2.17888e-05 4.59985e-05 0.006214 1 0 FAM60A 58516 broad.mit.edu 37 12 31440669 31440669 + Silent SNP A A C TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr12:31440669A>C ENST00000337682.4 - 5 773 c.405T>G c.(403-405)ccT>ccG p.P135P FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000454658.2_Silent_p.P135P NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 135 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) TACTGTAACAAGGAGATTGAG 0.378000 6 37 0 0 0.001984 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756449 56756449 + Missense_Mutation SNP C C T TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr11:56756449C>T ENST00000326855.2 + 1 103 c.61C>T c.(61-63)Cat>Tat p.H21Y NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 TGGTGCCCAGCATGAGTTTTG 0.413000 12 77 0 0 0.010729 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 2 4 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr6:123786033delA ENST00000546248.1 - 9 1022 c.889delT c.(889-891)ctfs p.S297fs RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GATCTTTAAGAAAAAAAAAAG 0.388 3 5 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 3 5 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 5 10 --- --- --- --- RP11-678G14.2 0 broad.mit.edu 37 19 21749277 21749278 + RNA DEL TC TC - TCGA-EM-A22N-01A-11D-A17V-08 TCGA-EM-A22N-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc054c7d-24bf-41f8-a070-7efc83a268dd 34edeffa-fb00-404d-ae19-6e7bf8de9fa2 g.chr19:21749277_21749278delTC ENST00000594564.1 - 0 134 AGAAATTATTTCTGTTTTCCCC 0.401 2 4 --- --- --- ---