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 OR5AK2 390181 broad.mit.edu 37 11 56756448 56756449 + Missense_Mutation DNP GC GC TT 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.chr11:56756448_56756449GC>TT uc010rjp.2 + 0 60_61 c.60_61GC>TT c.(58-63)cagcat>caTTat p.20_21QH>HY NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q20H(2)|p.A19V(1)|p.Q20fs*17(1) breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 TTGGTGCCCAGCATGAGTTTTG 0.411000 12 77 0 0 1 0 0 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 uc010xne.2 - 4 1003 c.767G>A c.(766-768)tGc>tAc p.C256Y CACNA1A_uc010xnd.2_Missense_Mutation_p.C256Y|CACNA1A_uc021ups.1_Missense_Mutation_p.C256Y|CACNA1A_uc002mwy.3_Missense_Mutation_p.C256Y|CACNA1A_uc010dze.2_Missense_Mutation_p.C256Y|CACNA1A_uc021upt.1_Missense_Mutation_p.C256Y NM_023035 NP_075461 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 2, mRNA. 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 1 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 uc002uqj.1 + 32 2425 c.2308C>T c.(2308-2310)Cct>Tct p.P770S NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 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 1 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 uc003jsz.4 + 2 566 c.255A>T c.(253-255)tcA>tcT p.S85S KIF2A_uc003jsx.4_Silent_p.S65S|KIF2A_uc010iwp.3_Silent_p.S85S|KIF2A_uc003jsy.4_Silent_p.S85S|KIF2A_uc010iwq.3_5'UTR NM_001098511 NP_001091981 O00139 KIF2A_HUMAN Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 2, mRNA. 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 1 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 uc001tsf.3 + 6 1623 c.1596G>T c.(1594-1596)tcG>tcT p.S532S SH2B3_uc001tse.3_Silent_p.S531S|SH2B3_uc010syf.2_Silent_p.S531S|SH2B3_uc010syg.2_Silent_p.S329S NM_005475 NP_005466 Q9UQQ2 SH2B3_HUMAN Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA. 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 0 0 1 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 uc001fhs.1 + 9 2122 c.2039C>T c.(2038-2040)aCa>aTa p.T680I TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.T554I|TRIM46_uc001fhu.1_Missense_Mutation_p.T657I|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 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 1 0 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 uc001rkc.3 - 3 722 c.480T>G c.(478-480)ccT>ccG p.P160P FAM60A_uc010sjz.2_Silent_p.P135P|FAM60A_uc001rkd.3_Silent_p.P135P|FAM60A_uc010ska.2_Silent_p.P135P|FAM60A_uc001rke.3_Silent_p.P135P|FAM60A_uc010skb.2_Non-coding_Transcript NM_021238 NP_067061 Q9NP50 FA60A_HUMAN Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA. 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 1 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 uc004ajs.4 - 4 647 c.157A>G c.(157-159)Aaa>Gaa p.K53E NMRK1_uc004ajr.4_Missense_Mutation_p.K49E|NMRK1_uc004ajt.4_Missense_Mutation_p.K49E Q9NWW6 NRK1_HUMAN Homo sapiens chromosome 9 open reading frame 95 (C9orf95), transcript variant 3, non-coding RNA. 49 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity AATCCATTTTTATCTGTCTCT 0.303000 6 112 0 0 1 0 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 uc002eod.1 - 11 1686 c.1293G>T c.(1291-1293)tgG>tgT p.W431C SLC38A7_uc002eoc.1_Missense_Mutation_p.G297V|SLC38A7_uc010vil.1_Missense_Mutation_p.W342C NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA. 431 amino acid transport|sodium ion transport integral to membrane p.W431*(1) endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 TGACCAGCACCCACCAGCTGT 0.498000 10 39 0 0 1 0 0