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 SDF4 51150 broad.mit.edu 37 1 1154157 1154157 + Missense_Mutation SNP C C T TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr1:1154157C>T ENST00000263741.7 - 5 1020 c.728G>A c.(727-729)cGg>cAg p.R243Q SDF4_ENST00000360001.6_Missense_Mutation_p.R243Q NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 243 EF-hand 4. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) ACCCAGGTCCCGGACGATCTC 0.697 6 192 --- --- --- --- KCNA3 3738 broad.mit.edu 37 1 111216759 111216759 + Missense_Mutation SNP C C T TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr1:111216759C>T ENST00000369769.2 - 1 896 c.673G>A c.(673-675)Gag>Aag p.E225K NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 225 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TCGGGGTACTCGAAGAGCAGC 0.677 44 98 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181745355 181745355 + Missense_Mutation SNP G G A TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr1:181745355G>A ENST00000526775.1 + 37 5366 c.5201G>A c.(5200-5202)cGa>cAa p.R1734Q CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1753 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAATATGACCGAGCAGCATGG 0.612 79 104 --- --- --- --- CFH 3075 broad.mit.edu 37 1 196711060 196711060 + Silent SNP G G A TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr1:196711060G>A ENST00000367429.4 + 19 3252 c.3012G>A c.(3010-3012)aaG>aaA p.K1004K NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1004 Sushi 17. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGGGAGAGAAGAAGGATGTGT 0.368 5 90 --- --- --- --- TMEM177 80775 broad.mit.edu 37 2 120438904 120438904 + Missense_Mutation SNP G G A TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr2:120438904G>A ENST00000424086.1 + 2 948 c.475G>A c.(475-477)Gtg>Atg p.V159M TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 159 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) CAGGGAAGTGGTGTACCTGGA 0.662 8 166 --- --- --- --- CADPS 8618 broad.mit.edu 37 3 62535600 62535600 + Silent SNP C C G TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr3:62535600C>G ENST00000383710.4 - 11 2293 c.1944G>C c.(1942-1944)ctG>ctC p.L648L CADPS_ENST00000283269.9_Silent_p.L648L|CADPS_ENST00000357948.3_Silent_p.L648L NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 648 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TAGGGGCATCCAGCTGAGGTA 0.473 40 70 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89528621 89528621 + Missense_Mutation SNP C C T TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr3:89528621C>T ENST00000336596.2 + 17 3146 c.2921C>T c.(2920-2922)aCg>aTg p.T974M EPHA3_ENST00000494014.1_3'UTR NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 974 SAM. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GCTCTAGAAACGCAATCAAAG 0.468 TSP Lung(6;0.00050) 7 30 --- --- --- --- CDH12 1010 broad.mit.edu 37 5 21854872 21854872 + Missense_Mutation SNP G G C TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr5:21854872G>C ENST00000382254.1 - 7 1640 c.554C>G c.(553-555)aCa>aGa p.T185R CDH12_ENST00000504376.2_Missense_Mutation_p.T185R|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 185 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 ATCTGCATCTGTGGCCTTGAC 0.413 HNSCC(59;0.17) 21 26 --- --- --- --- PCDHB17P 54661 broad.mit.edu 37 5 140537272 140537272 + Missense_Mutation SNP C C T TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr5:140537272C>T ENST00000539533.1 + 1 1696 c.1696C>T c.(1696-1698)Cgc>Tgc p.R566C GTGCTGTACCCGCTGCAGAAC 0.721 4 95 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158514069 158514069 + Missense_Mutation SNP T T A TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr6:158514069T>A ENST00000355585.4 + 26 3752 c.3677T>A c.(3676-3678)cTc>cAc p.L1226H SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1226 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GCGCCCCCACTCCTTCCCCGT 0.592 8 65 --- --- --- --- ADCY1 107 broad.mit.edu 37 7 45750138 45750138 + Missense_Mutation SNP G G T TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr7:45750138G>T ENST00000297323.7 + 19 2966 c.2944G>T c.(2944-2946)Ggc>Tgc p.G982C NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 982 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CATCAATGTTGGCCCTGTGGT 0.577 8 115 --- --- --- --- BAZ1B 9031 broad.mit.edu 37 7 72891995 72891995 + Missense_Mutation SNP G G T TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr7:72891995G>T ENST00000339594.4 - 7 2134 c.1796C>A c.(1795-1797)cCt>cAt p.P599H BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 599 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) CAGCCCTTCAGGGGTATCCAC 0.458 6 161 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705461 41705461 + Missense_Mutation SNP T T A TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr13:41705461T>A ENST00000379485.1 - 1 1421 c.1187A>T c.(1186-1188)tAt>tTt p.Y396F KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 396 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) AGCAGCTAGATAGATGTCATG 0.517 78 101 --- --- --- --- LMO7 4008 broad.mit.edu 37 13 76379699 76379699 + Silent SNP G G A TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr13:76379699G>A ENST00000357063.3 + 10 2415 c.1155G>A c.(1153-1155)gaG>gaA p.E385E RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Silent_p.E385E|LMO7_ENST00000465261.2_Silent_p.E100E|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Silent_p.E100E Q8WWI1 LMO7_HUMAN LIM domain 7 385 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATTTGGAAGAGGAAAAAGCAA 0.433 5 197 --- --- --- --- CLUH 23277 broad.mit.edu 37 17 2606635 2606635 + Frame_Shift_Del DEL C C - TCGA-HC-8213-01A-11D-A29Q-08 TCGA-HC-8213-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f375497-1993-42be-aae3-0c55638053e7 942d7fa6-03b5-4661-9806-b535058fed63 g.chr17:2606635delC ENST00000570628.2 - 3 443 c.338delG c.(337-339)ggcfs p.G113fs CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs clustered mitochondria (cluA/CLU1) homolog CAGCACAGAGCCCTCCTGCAG 0.667 7 11 --- --- --- ---