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 AMPD1 270 broad.mit.edu 37 1 115222328 115222328 + Splice_Site SNP T T C TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr1:115222328T>C ENST00000369538.3 - 6 903 c.856A>G c.(856-858)Aag>Gag p.K286E AMPD1_ENST00000520113.2_Splice_Site_p.K290E|AMPD1_ENST00000353928.6_Splice_Site_p.K257E NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 257 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GTATAGGTCTTACTGTGAAAA 0.398 32 64 --- --- --- --- RUSC1 23623 broad.mit.edu 37 1 155296881 155296881 + Missense_Mutation SNP C C T TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr1:155296881C>T ENST00000368352.5 + 8 2523 c.2372C>T c.(2371-2373)cCt>cTt p.P791L RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 791 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TTTGGAGTGCCTGGGGGCCCC 0.562 20 41 --- --- --- --- ARF1 375 broad.mit.edu 37 1 228284842 228284842 + Silent SNP C C T TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr1:228284842C>T ENST00000541182.1 + 2 289 c.27C>T c.(25-27)ttC>ttT p.F9F ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000540651.1_Silent_p.F9F|ARF1_ENST00000478424.1_3'UTR NM_001024227.1|NM_001024228.1 NP_001019398.1|NP_001019399.1 P84077 ARF1_HUMAN ADP-ribosylation factor 1 9 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 10 Prostate(94;0.0405) CCAACCTCTTCAAGGGCCTTT 0.542 28 68 --- --- --- --- GALNT14 79623 broad.mit.edu 37 2 31155004 31155004 + Nonsense_Mutation SNP G G A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr2:31155004G>A ENST00000349752.5 - 10 1627 c.988C>T c.(988-990)Cga>Tga p.R330* GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000486564.1_5'UTR NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 330 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TGCCCCACTCGGCTGCAGGGG 0.577 20 38 --- --- --- --- LOXL3 84695 broad.mit.edu 37 2 74762802 74762802 + Silent SNP G G A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr2:74762802G>A ENST00000264094.3 - 8 1400 c.1329C>T c.(1327-1329)ggC>ggT p.G443G LOXL3_ENST00000409986.1_Silent_p.G298G|LOXL3_ENST00000393937.2_Silent_p.G298G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 443 SRCR 4. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CACAGATGAGGCCCCAGCGAA 0.642 45 54 --- --- --- --- FANCD2 2177 broad.mit.edu 37 3 10128872 10128872 + Nonsense_Mutation SNP T T A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr3:10128872T>A ENST00000287647.3 + 34 3483 c.3390T>A c.(3388-3390)tgT>tgA p.C1130* FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000419585.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130* NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1130 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GTTTCCAGTGTGCTCTTTATC 0.378 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 19 56 --- --- --- --- CCDC36 339834 broad.mit.edu 37 3 49294572 49294572 + Missense_Mutation SNP T T C TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr3:49294572T>C ENST00000438782.1 + 8 1878 c.1642T>C c.(1642-1644)Tcc>Ccc p.S548P CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P|CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 548 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CTGGCTACTTTCCAGCAGTTC 0.522 26 42 --- --- --- --- LTC4S 4056 broad.mit.edu 37 5 179221091 179221091 + Missense_Mutation SNP G G A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr5:179221091G>A ENST00000292596.10 + 1 105 c.10G>A c.(10-12)Gag>Aag p.E4K MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K NM_145867.1 NP_665874.1 Q16873 LTC4S_HUMAN leukotriene C4 synthase 4 hormone biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|prostanoid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear outer membrane enzyme activator activity|glutathione peroxidase activity|leukotriene-C4 synthase activity|lipid binding haematopoietic_and_lymphoid_tissue(1) 1 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Glutathione(DB00143) CATGAAGGACGAGGTAGCTCT 0.617 9 28 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32017326 32017326 + Missense_Mutation SNP C C A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr6:32017326C>A ENST00000375244.3 - 28 9679 c.9478G>T c.(9478-9480)Gcc>Tcc p.A3160S TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S P22105 TENX_HUMAN tenascin XB 3205 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCTCCGGGGCCTCAGTGCTG 0.657 10 30 --- --- --- --- MANEA 79694 broad.mit.edu 37 6 96054103 96054103 + Missense_Mutation SNP A A G TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr6:96054103A>G ENST00000358812.4 + 5 1345 c.1211A>G c.(1210-1212)gAg>gGg p.E404G NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 404 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TCTTTTAATGAGTGGCATGAA 0.418 15 33 --- --- --- --- CTAGE9 643854 broad.mit.edu 37 6 132032076 132032076 + Nonsense_Mutation SNP C C A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr6:132032076C>A ENST00000314099.8 - 1 130 c.82G>T c.(82-84)Gag>Tag p.E28* ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 28 integral to membrane endometrium(1)|lung(1) 2 CTCATACTCTCAGGTAGTGCT 0.522 16 41 --- --- --- --- C7orf60 154743 broad.mit.edu 37 7 112462373 112462373 + Missense_Mutation SNP G G A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr7:112462373G>A ENST00000297145.4 - 5 809 c.644C>T c.(643-645)gCa>gTa p.A215V NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 215 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 AGCATCCTGTGCAAGCTGGAG 0.388 20 31 --- --- --- --- DCLRE1C 64421 broad.mit.edu 37 10 14995921 14995921 + Missense_Mutation SNP A A G TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr10:14995921A>G ENST00000378289.4 - 1 510 c.89T>C c.(88-90)tTc>tCc p.F30S DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.F30S|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 30 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 GTGGGACAGGAAGTAGGCGCG 0.652 Non-homologous end-joining 11 29 --- --- --- --- CD81 975 broad.mit.edu 37 11 2416275 2416275 + Splice_Site SNP A A G TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr11:2416275A>G ENST00000263645.5 + 4 609 c.353A>G c.(352-354)cAg>cGg p.Q118R CD81_ENST00000526072.1_Splice_Site_p.Q47R|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_Splice_Site_p.Q47R|CD81_ENST00000381036.3_Splice_Site_p.Q156R|CD81_ENST00000481687.1_Splice_Site_p.Q124R NM_004356.3 NP_004347.1 P60033 CD81_HUMAN CD81 molecule 118 activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding endometrium(1)|lung(3)|skin(1) 5 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) AACAAGGACCAGGTGAGCCTG 0.662 3 40 --- --- --- --- SBF2 81846 broad.mit.edu 37 11 9838385 9838385 + Splice_Site SNP A A G TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr11:9838385A>G ENST00000256190.8 - 29 4116 c.e29+1 NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) AAGAAATCTTACCCTTAGTTG 0.403 14 34 --- --- --- --- RAG1 5896 broad.mit.edu 37 11 36595191 36595191 + Missense_Mutation SNP A A G TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr11:36595191A>G ENST00000299440.5 + 2 449 c.337A>G c.(337-339)Atc>Gtc p.I113V NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 113 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TCTCTGCCGCATCTGTGGGAA 0.443 Familial Hemophagocytic Lymphohistiocytosis 29 37 --- --- --- --- CACNA1C 775 broad.mit.edu 37 12 2622020 2622020 + Missense_Mutation SNP T T A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr12:2622020T>A ENST00000399655.1 + 9 1525 c.1260T>A c.(1258-1260)gaT>gaA p.D420E CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 420 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCCGGGGAGATTTCCAGAAGC 0.567 3 14 --- --- --- --- CHTF18 63922 broad.mit.edu 37 16 844192 844192 + Missense_Mutation SNP G G T TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr16:844192G>T ENST00000317063.6 + 17 2568 c.2568G>T c.(2566-2568)aaG>aaT p.K856N CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000262315.9_Missense_Mutation_p.K647N Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 647 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) AGCACGAGAAGGTGGTCCAGG 0.682 10 24 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30722964 30722964 + Missense_Mutation SNP A A G TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr16:30722964A>G ENST00000262518.4 + 11 1776 c.1391A>G c.(1390-1392)gAt>gGt p.D464G SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G|SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 464 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGCAGTGAAGATGAGGATGAA 0.517 21 68 --- --- --- --- CCL14 6358 broad.mit.edu 37 17 34324881 34324881 + Translation_Start_Site SNP C C A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr17:34324881C>A ENST00000536149.1 - 0 832 CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N|CCL15_ENST00000354059.4_Missense_Mutation_p.K88N Q16627 CCL14_HUMAN chemokine (C-C motif) ligand 14 cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation extracellular space chemokine activity|signal transducer activity large_intestine(1)|lung(6) 7 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTTGCCGCCCCTTCTTGGTGA 0.507 13 32 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696689 47696689 + Missense_Mutation SNP A A T TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr17:47696689A>T ENST00000393331.3 - 6 729 c.259T>A c.(259-261)Tac>Aac p.Y87N SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 87 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.Y87N(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AGTAACAGGTAAAGTGACAGG 0.403 Prostate(2;0.17) 20 55 --- --- --- --- USHBP1 83878 broad.mit.edu 37 19 17374839 17374839 + Nonsense_Mutation SNP C C A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr19:17374839C>A ENST00000252597.3 - 3 348 c.175G>T c.(175-177)Gag>Tag p.E59* USHBP1_ENST00000598570.1_Intron|USHBP1_ENST00000431146.2_Intron NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 59 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CCACTGACCTCCTCCATGGGG 0.617 3 14 --- --- --- --- SLC27A5 10998 broad.mit.edu 37 19 59012735 59012735 + Missense_Mutation SNP A A T TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr19:59012735A>T ENST00000263093.2 - 4 1209 c.1100T>A c.(1099-1101)tTc>tAc p.F367Y SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 367 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GTCATCCCAGAAGCAGGAAGT 0.532 22 49 --- --- --- --- DIP2A 23181 broad.mit.edu 37 21 47987298 47987298 + Nonsense_Mutation SNP G G A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr21:47987298G>A ENST00000318711.7 + 38 4665 c.4482G>A c.(4480-4482)tgG>tgA p.W1494* DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.W1493*|DIP2A_ENST00000479654.1_3'UTR NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1493 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TATTCACCTGGACCAACCTGC 0.592 18 79 --- --- --- --- MID1 4281 broad.mit.edu 37 X 10417583 10417583 + Missense_Mutation SNP T T C TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chrX:10417583T>C ENST00000317552.4 - 10 2229 c.1829A>G c.(1828-1830)tAt>tGt p.Y610C MID1_ENST00000453318.2_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.Y610C NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 610 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCCGTTATCATAGTCCAGCAG 0.557 29 15 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135593232 135593232 + Missense_Mutation SNP G G A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chrX:135593232G>A ENST00000535601.1 + 10 1750 c.1328G>A c.(1327-1329)gGt>gAt p.G443D HTATSF1_ENST00000218364.4_Missense_Mutation_p.G443D NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 443 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TTTGAAGAAGGTGCTTCTGAA 0.428 3 53 --- --- --- --- CDC20 991 broad.mit.edu 37 1 43825955 43825955 + Frame_Shift_Del DEL C C - TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr1:43825955delC ENST00000372462.1 + 5 851 c.648delC c.(646-648)atcfs p.I216fs CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs|CDC20_ENST00000478882.1_3'UTR Q12834 CDC20_HUMAN cell division cycle 20 216 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGGTGACATCCTGCAGCTTT 0.537 26 46 --- --- --- --- NSL1 25936 broad.mit.edu 37 1 212964929 212964930 + Frame_Shift_Ins INS - - TT TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr1:212964929_212964930insTT ENST00000366977.3 - 1 194_195 c.176_177insAA c.(175-177)aagfs p.K59fs NSL1_ENST00000366975.6_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.K59fs NM_015471.3 NP_056286.3 Q96IY1 NSL1_HUMAN NSL1, MIS12 kinetochore complex component 59 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) CGTCCCCGAGCTTTTGCACGAA 0.609 32 165 --- --- --- --- FBXO38 81545 broad.mit.edu 37 5 147803625 147803626 + Frame_Shift_Ins INS - - A TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c120cb6-8347-4d01-a96c-ff638871d08d 3615236e-5eaf-49d1-b864-d08c3bd3e65c g.chr5:147803625_147803626insA ENST00000340253.5 + 13 1851_1852 c.1683_1684insA c.(1684-1686)actfs p.T562fs FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.T562fs Q6PIJ6 FBX38_HUMAN F-box protein 38 562 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAAATAATACTCCAGCTCA 0.426 36 44 --- --- --- ---