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 CACNA1G 8913 broad.mit.edu 37 17 48696019 48696019 + Missense_Mutation SNP A A G TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr17:48696019A>G uc002irk.1 + 32 5803 c.5431A>G c.(5431-5433)Acc>Gcc p.T1811A CACNA1G_uc002irj.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irl.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irm.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irn.1_Missense_Mutation_p.T1770A|CACNA1G_uc002iro.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irp.1_Missense_Mutation_p.T1811A|CACNA1G_uc002irq.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irr.1_Missense_Mutation_p.T1811A|CACNA1G_uc002irs.1_Missense_Mutation_p.T1800A|CACNA1G_uc002irt.1_Missense_Mutation_p.T1793A|CACNA1G_uc002iru.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irv.1_Missense_Mutation_p.T1800A|CACNA1G_uc002irw.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irx.1_Missense_Mutation_p.T1724A|CACNA1G_uc002iry.1_Missense_Mutation_p.T1713A|CACNA1G_uc002isg.1_Missense_Mutation_p.T1672A|CACNA1G_uc002ish.1_Missense_Mutation_p.T1679A|CACNA1G_uc002isi.1_Missense_Mutation_p.T1667A|CACNA1G_uc002irz.1_Missense_Mutation_p.T1717A|CACNA1G_uc002isa.1_Missense_Mutation_p.T1690A|CACNA1G_uc002isd.1_Missense_Mutation_p.T1699A|CACNA1G_uc002isb.1_Missense_Mutation_p.T1731A|CACNA1G_uc002isc.1_Missense_Mutation_p.T1713A|CACNA1G_uc002ise.1_Missense_Mutation_p.T1679A|CACNA1G_uc002isf.1_Missense_Mutation_p.T1706A NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1811 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCCCCAGGACACCCTCCGGGA 0.562000 4 18 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63491897 63491897 + Missense_Mutation SNP G G A TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr18:63491897G>A uc002ljz.3 + 5 1136 c.811G>A c.(811-813)Gtc>Atc p.V271I CDH7_uc002lka.3_Missense_Mutation_p.V271I|CDH7_uc002lkb.3_Missense_Mutation_p.V271I NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA. 271 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TCAATATAACGTCCCAGAGTC 0.373000 8 52 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644878 169644878 + Silent SNP C C T TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr3:169644878C>T uc003fgd.3 + 5 1095 c.828C>T c.(826-828)gaC>gaT p.D276D SAMD7_uc003fge.3_Silent_p.D276D|SAMD7_uc011bpo.2_Silent_p.D177D NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 276 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGGCCTGGGACGATGGGAAAG 0.562000 33 42 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52758885 52758885 + Missense_Mutation SNP A A G TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr12:52758885A>G uc001sag.3 - 1 610 c.490T>C c.(490-492)Tgc>Cgc p.C164R NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 164 Linker 1.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TTGCTCTCGCAGCAGCGCTGG 0.612000 11 71 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132535059 132535059 + Missense_Mutation SNP C C T TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr5:132535059C>T uc003kyn.1 - 15 2475 c.2257G>A c.(2257-2259)Gcg>Acg p.A753T FSTL4_uc003kym.1_Missense_Mutation_p.A402T NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 753 extracellular region calcium ion binding p.A753T(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCAGAGCCGCGTAGATGTTG 0.572000 29 37 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38251572 38251572 + Splice_Site SNP C C T rs143207366 TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr22:38251572C>T uc003auf.3 + 4 372 c.294_splice c.e4-1 p.S98_splice EIF3L_uc011ann.2_Splice_Site_p.S98_splice|EIF3L_uc003aug.3_Intron NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA. 98 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGATTTTTAGCTGGACCAAGC 0.428000 3 30 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081132 54081132 + Silent SNP C C T TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr2:54081132C>T uc002rxo.3 - 1 1077 c.762G>A c.(760-762)ggG>ggA p.G254G GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc021vhn.1_Silent_p.G254G NM_006794 NP_006785 O95800 GPR75_HUMAN Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA. 254 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCACAGGGACCCCCATGAAAG 0.537000 18 38 0 0 1 0 0 C9orf47 286223 broad.mit.edu 37 9 91606052 91606052 + Missense_Mutation SNP C C G TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr9:91606052C>G uc004aqd.3 + 0 275 c.142C>G c.(142-144)Ctc>Gtc p.L48V S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Missense_Mutation_p.L48V NM_001001938 NP_001001938 Q6ZRZ4 CI047_HUMAN Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA. 48 extracellular region endometrium(1)|large_intestine(1)|liver(1)|lung(1) 4 CCCGCTGGGTCTCTGGGCGCC 0.672000 5 10 0 0 1 0 0 KCNIP1 30820 broad.mit.edu 37 5 170148874 170148874 + Missense_Mutation SNP C C A TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr5:170148874C>A uc010jjq.3 + 3 898 c.369C>A c.(367-369)ttC>ttA p.F123L KCNIP1_uc003map.3_Missense_Mutation_p.F107L|KCNIP1_uc003mas.3_Missense_Mutation_p.F109L|KCNIP1_uc003mat.3_Missense_Mutation_p.F98L|KCNIP1_uc010jjp.3_Missense_Mutation_p.F70L NM_014592 NP_055407 Q9NZI2 KCIP1_HUMAN Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 2, mRNA. 109 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.F109F(1) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAATGCCTTCGACACCACTC 0.547000 9 125 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331756 107331756 + Missense_Mutation SNP T T A TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr9:107331756T>A uc011lvo.2 + 0 308 c.308T>A c.(307-309)aTt>aAt p.I103N NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CAAATGTTTATTTCTTTTGCC 0.488000 6 107 0 0 1 0 0