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 FLG 2312 broad.mit.edu 37 1 152280684 152280684 + Silent SNP G G C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr1:152280684G>C ENST00000368799.1 - 3 6713 c.6678C>G c.(6676-6678)ggC>ggG p.G2226G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2226 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTGTCCCTGGCCCACCAGTG 0.562 Ichthyosis 24 121 --- --- --- --- CCRL2 9034 broad.mit.edu 37 3 46450522 46450522 + Missense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr3:46450522C>T ENST00000399036.3 + 2 1304 c.952C>T c.(952-954)Cgt>Tgt p.R318C CCRL2_ENST00000357392.4_Missense_Mutation_p.R330C|CCRL2_ENST00000400882.2_Missense_Mutation_p.R318C|CCRL2_ENST00000400880.3_Missense_Mutation_p.R318C NM_003965.4 NP_003956.2 O00421 CCRL2_HUMAN chemokine (C-C motif) receptor-like 2 chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity lung(3)|ovary(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) TTTCCATCTGCGTAGTAACAC 0.512 25 77 --- --- --- --- DPPA2 151871 broad.mit.edu 37 3 109031399 109031399 + Silent SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr3:109031399G>A ENST00000478945.1 - 3 420 c.174C>T c.(172-174)taC>taT p.Y58Y NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 58 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TACCTGGATTGTATTTCTTAG 0.413 12 78 --- --- --- --- FER 2241 broad.mit.edu 37 5 108382846 108382846 + Missense_Mutation SNP T T C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr5:108382846T>C ENST00000281092.4 + 16 2255 c.1871T>C c.(1870-1872)aTa>aCa p.I624T FER_ENST00000438717.2_Missense_Mutation_p.I449T NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 624 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GTCAAACTTATAGGAGTTTGC 0.313 5 43 --- --- --- --- PPP1R16A 84988 broad.mit.edu 37 8 145726591 145726591 + Nonsense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr8:145726591C>T ENST00000292539.4 + 10 2034 c.1117C>T c.(1117-1119)Caa>Taa p.Q373* PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373* Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 373 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CATCGTGTGGCAACAGCCGCC 0.716 3 10 --- --- --- --- FANCF 2188 broad.mit.edu 37 11 22647295 22647295 + Missense_Mutation SNP G G C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:22647295G>C ENST00000327470.3 - 1 92 c.62C>G c.(61-63)aCc>aGc p.T21S AC103801.2_ENST00000428556.2_3'UTR NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 21 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 GCTGACGTAGGTAGTGCTTGA 0.637 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 15 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35456159 35456159 + Silent SNP C C G TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:35456159C>G ENST00000378880.2 - 10 1972 c.1527G>C c.(1525-1527)ctG>ctC p.L509L PAMR1_ENST00000378878.3_Silent_p.L398L|PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 509 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 TGACCTTCCCCAGGTCAGTAA 0.557 15 48 --- --- --- --- FAM181B 220382 broad.mit.edu 37 11 82443541 82443541 + Missense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr11:82443541C>T ENST00000329203.3 - 1 1365 c.1231G>A c.(1231-1233)Gac>Aac p.D411N NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 411 large_intestine(1)|lung(2)|prostate(1) 4 CAAACCCCGTCGGATCTCCAA 0.692 3 14 --- --- --- --- SLC2A13 114134 broad.mit.edu 37 12 40158559 40158559 + Missense_Mutation SNP T T C TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr12:40158559T>C ENST00000280871.4 - 8 1597 c.1547A>G c.(1546-1548)tAt>tGt p.Y516C NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 516 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) GAAGACAAGATATAAAATAAG 0.333 HNSCC(50;0.14) 7 38 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57593708 57593708 + Missense_Mutation SNP G G A TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr12:57593708G>A ENST00000243077.3 + 62 10380 c.9914G>A c.(9913-9915)tGc>tAc p.C3305Y NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3305 EGF-like 13. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGCAACCTGTGCCTGCTGTCC 0.587 9 48 --- --- --- --- GAS2L3 283431 broad.mit.edu 37 12 101018420 101018420 + Silent SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr12:101018420C>T ENST00000537247.1 + 10 2479 c.1525C>T c.(1525-1527)Ctg>Ttg p.L509L GAS2L3_ENST00000539410.1_Silent_p.L613L|GAS2L3_ENST00000547754.1_Silent_p.L613L|GAS2L3_ENST00000266754.5_Silent_p.L613L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 613 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CCGTACCCCACTGTCCATCGT 0.488 10 35 --- --- --- --- ALPK3 57538 broad.mit.edu 37 15 85402608 85402608 + Nonsense_Mutation SNP G G T rs142686791 TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr15:85402608G>T ENST00000258888.5 + 7 4725 c.4558G>T c.(4558-4560)Gag>Tag p.E1520* NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1520 Ig-like 2. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCCAGTGGGCGAGGTGGGCAG 0.552 8 34 --- --- --- --- SEMA3F 6405 broad.mit.edu 37 3 50225399 50225399 + Frame_Shift_Del DEL C C - TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61396ff0-5975-4cf6-9142-ce0349096ebc 002a3041-247d-4cf6-b81a-a4e04857e872 g.chr3:50225399delC ENST00000002829.3 + 19 2693 c.2209delC c.(2209-2211)ccafs p.P737fs SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 737 axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GCTGGCCCAGCCAGAAGTGGG 0.697 2 4 --- --- --- ---