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 NBPF1 55672 broad.mit.edu 37 1 16890543 16890543 + Missense_Mutation SNP C C G TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr1:16890543C>G ENST00000430580.2 - 29 4202 c.3315G>C c.(3313-3315)gaG>gaC p.E1105D NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1085 NBPF 7. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGTGCTGTTCCTCAAATGAGT 0.453 52 770 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158577018 158577018 + Missense_Mutation SNP G G A TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr1:158577018G>A ENST00000361284.1 + 1 790 c.790G>A c.(790-792)Gcc>Acc p.A264T NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GAGGCCCAAAGCCAGCTACTC 0.483 5 243 --- --- --- --- XPR1 9213 broad.mit.edu 37 1 180793908 180793908 + Silent SNP A A T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr1:180793908A>T ENST00000367590.4 + 8 981 c.783A>T c.(781-783)acA>acT p.T261T XPR1_ENST00000367589.3_Silent_p.T261T NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 261 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 AACTTGAAACAGATAGAAGTA 0.338 10 43 --- --- --- --- POTEF 728378 broad.mit.edu 37 2 130877866 130877866 + Missense_Mutation SNP T T C TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr2:130877866T>C ENST00000357462.5 - 1 316 c.223A>G c.(223-225)Agt>Ggt p.S75G POTEF_ENST00000409914.2_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 75 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CTCTTGCCACTCCCCCTGCAG 0.592 3 202 --- --- --- --- NAALADL2 254827 broad.mit.edu 37 3 175041963 175041963 + Splice_Site SNP G G T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr3:175041963G>T ENST00000454872.1 + 5 1067 c.e5-1 NAALADL2_ENST00000473253.1_Splice_Site NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CCCTCTTTTAGCTTTCCTCAT 0.378 5 173 --- --- --- --- ATP13A5 344905 broad.mit.edu 37 3 193051645 193051645 + Missense_Mutation SNP G G A TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr3:193051645G>A ENST00000342358.4 - 11 1283 c.1166C>T c.(1165-1167)cCt>cTt p.P389L NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 389 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GAAGTTCAGAGGCCGGGGGTA 0.453 8 31 --- --- --- --- SHROOM3 57619 broad.mit.edu 37 4 77661470 77661470 + Missense_Mutation SNP A A G TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr4:77661470A>G ENST00000296043.6 + 5 3097 c.2144A>G c.(2143-2145)cAt>cGt p.H715R NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 715 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CTCGGGAGCCATCTGGACCGG 0.677 18 70 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 89939768 89939768 + Missense_Mutation SNP T T C TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr5:89939768T>C ENST00000405460.2 + 14 2798 c.2702T>C c.(2701-2703)aTa>aCa p.I901T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 901 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTGTGATGATAAATGAAAGC 0.299 10 13 --- --- --- --- THEMIS 387357 broad.mit.edu 37 6 128134393 128134393 + Missense_Mutation SNP C C A TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr6:128134393C>A ENST00000368250.1 - 5 1654 c.1156G>T c.(1156-1158)Gat>Tat p.D386Y THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368248.2_Missense_Mutation_p.D465Y Q8N1K5 THMS1_HUMAN thymocyte selection associated 465 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus p.D465Y(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ATGGAAAGATCCCTGACAGAC 0.468 7 43 --- --- --- --- ADAMDEC1 27299 broad.mit.edu 37 8 24254909 24254909 + Silent SNP G G A TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr8:24254909G>A ENST00000538205.1 + 7 877 c.330G>A c.(328-330)gtG>gtA p.V110V ADAMDEC1_ENST00000256412.4_Silent_p.V189V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.V110V NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 189 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CATGTGGTGTGAAGAGCACTG 0.438 35 137 --- --- --- --- ADCY8 114 broad.mit.edu 37 8 131859738 131859738 + Missense_Mutation SNP A A T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr8:131859738A>T ENST00000286355.5 - 11 4526 c.2434T>A c.(2434-2436)Tcg>Acg p.S812T ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 812 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAGGGTATCGACTTGTCAAAA 0.393 HNSCC(32;0.087) 5 27 --- --- --- --- TRIM5 85363 broad.mit.edu 37 11 5701211 5701211 + Missense_Mutation SNP T T G TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr11:5701211T>G ENST00000305836.5 - 2 499 c.197A>C c.(196-198)aAc>aCc p.N66T TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T|TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000380034.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T Q9C035 TRIM5_HUMAN tripartite motif containing 5 66 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) AGGCCGTATGTTCTCAGGCTG 0.527 4 106 --- --- --- --- NEMF 9147 broad.mit.edu 37 14 50251653 50251653 + Missense_Mutation SNP C C T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr14:50251653C>T ENST00000298310.5 - 32 3592 c.3143G>A c.(3142-3144)cGc>cAc p.R1048H NEMF_ENST00000382135.2_Missense_Mutation_p.R248H|NEMF_ENST00000546046.1_Missense_Mutation_p.R1027H|NEMF_ENST00000545773.1_Missense_Mutation_p.R1006H|NEMF_ENST00000556925.1_5'UTR O60524 NEMF_HUMAN nuclear export mediator factor 1048 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 CTTTACGCTGCGGAATAAGTC 0.333 15 65 --- --- --- --- ZNF592 9640 broad.mit.edu 37 15 85327345 85327345 + Missense_Mutation SNP G G T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr15:85327345G>T ENST00000299927.3 + 1 1461 c.1439G>T c.(1438-1440)gGc>gTc p.G480V ZNF592_ENST00000560079.2_Missense_Mutation_p.G480V Q92610 ZN592_HUMAN zinc finger protein 592 480 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCACAGACAGGCAAGAAGCAA 0.632 3 32 --- --- --- --- PRSS27 83886 broad.mit.edu 37 16 2770147 2770147 + Silent SNP C C T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr16:2770147C>T ENST00000302641.3 - 1 69 c.15G>A c.(13-15)gcG>gcA p.A5A NM_031948.3 NP_114154.1 Q9BQR3 PRS27_HUMAN protease, serine 27 5 proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 GCGGCACCGCCGCCGGCCGCC 0.692 4 4 --- --- --- --- ASPA 443 broad.mit.edu 37 17 3379480 3379480 + Silent SNP A A G TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr17:3379480A>G ENST00000263080.2 + 1 185 c.27A>G c.(25-27)gaA>gaG p.E9E SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.E9E NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 9 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TTGCTGAAGAACATATACAAA 0.383 21 86 --- --- --- --- MYH1 4619 broad.mit.edu 37 17 10404784 10404784 + Silent SNP C C T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr17:10404784C>T ENST00000226207.5 - 27 3475 c.3381G>A c.(3379-3381)gaG>gaA p.E1127E CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1127 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCCGCTCTGCCTCGATTTCCT 0.542 3 51 --- --- --- --- GGNBP2 79893 broad.mit.edu 37 17 34934521 34934521 + Silent SNP G G A TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr17:34934521G>A ENST00000304718.4 + 7 1066 c.750G>A c.(748-750)ttG>ttA p.L250L NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 250 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) ATGAAGGCTTGCGGTGCTGTC 0.458 67 152 --- --- --- --- PRKCSH 5589 broad.mit.edu 37 19 11560110 11560110 + Missense_Mutation SNP G G A TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr19:11560110G>A ENST00000252455.2 + 17 1806 c.1470G>A c.(1468-1470)atG>atA p.M490I PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I|PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000589838.1_Missense_Mutation_p.M490I|PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 490 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 AAGAGACCATGGTGACCAGCA 0.692 5 66 --- --- --- --- FXYD3 5349 broad.mit.edu 37 19 35613746 35613746 + Nonsense_Mutation SNP G G T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr19:35613746G>T ENST00000435734.2 + 7 434 c.175G>T c.(175-177)Gag>Tag p.E59* FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000344013.6_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000603524.1_Intron NM_001136011.1|NM_021910.2 NP_001129483.1|NP_068710.1 Q14802 FXYD3_HUMAN FXYD domain containing ion transport regulator 3 58 chloride channel complex|integral to plasma membrane chloride channel activity endometrium(1)|lung(2)|prostate(1) 4 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CGTCATGAGTGAGTGGAGGAG 0.632 4 135 --- --- --- --- ZNF571 51276 broad.mit.edu 37 19 38057181 38057181 + Missense_Mutation SNP C C G TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr19:38057181C>G ENST00000328550.2 - 4 248 c.149G>C c.(148-150)aGt>aCt p.S50T ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTCACACAACTGGATTCCAA 0.328 8 38 --- --- --- --- PAK7 57144 broad.mit.edu 37 20 9546933 9546933 + Silent SNP T T C TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr20:9546933T>C ENST00000378429.3 - 6 1635 c.1089A>G c.(1087-1089)aaA>aaG p.K363K PAK7_ENST00000378423.1_Silent_p.K363K|PAK7_ENST00000353224.5_Silent_p.K363K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 363 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AATAGCCCGATTTGCTTTGAC 0.557 3 142 --- --- --- --- CSRP2BP 57325 broad.mit.edu 37 20 18142699 18142699 + Silent SNP A A G TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr20:18142699A>G ENST00000435364.3 + 5 1259 c.918A>G c.(916-918)aaA>aaG p.K306K CSRP2BP_ENST00000489634.2_Silent_p.K178K|CSRP2BP_ENST00000377681.3_Silent_p.K305K NM_020536.4 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TTCTGGAAAAAGGCGAAGTGA 0.542 3 102 --- --- --- --- TTI1 9675 broad.mit.edu 37 20 36639973 36639973 + Missense_Mutation SNP T T C TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr20:36639973T>C ENST00000373448.2 - 3 2484 c.2246A>G c.(2245-2247)tAc>tGc p.Y749C TTI1_ENST00000449821.1_Missense_Mutation_p.Y749C|TTI1_ENST00000373447.3_Missense_Mutation_p.Y749C NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 749 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TCTCTTATCGTAAAATTGGTC 0.498 2 18 --- --- --- --- TMPRSS6 164656 broad.mit.edu 37 22 37499387 37499387 + Missense_Mutation SNP G G A TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr22:37499387G>A ENST00000381792.2 - 2 211 c.71C>T c.(70-72)cCg>cTg p.P24L TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P33L Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 33 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CATCCCCTCCGGCTCCGCTTC 0.662 3 113 --- --- --- --- POLA1 5422 broad.mit.edu 37 X 24861702 24861702 + Missense_Mutation SNP A A G TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chrX:24861702A>G ENST00000379068.3 + 34 3998 c.3955A>G c.(3955-3957)Atc>Gtc p.I1319V POLA1_ENST00000379059.3_Missense_Mutation_p.I1313V P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 1313 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) TTGCAGTAACATCGATTGTAA 0.373 13 16 --- --- --- --- SLITRK2 84631 broad.mit.edu 37 X 144906446 144906446 + Missense_Mutation SNP G G T TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chrX:144906446G>T ENST00000370490.1 + 1 6758 c.2503G>T c.(2503-2505)Gtt>Ttt p.V835F SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 835 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CTACCTCGAAGTTCTGGAAAA 0.468 21 14 --- --- --- --- DDX47 51202 broad.mit.edu 37 12 12980209 12980226 + In_Frame_Del DEL AACACTTAATTGGGAAGA AACACTTAATTGGGAAGA - TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chr12:12980209_12980226delAACACTTAATTGGGAAGA ENST00000358007.3 + 11 1158_1175 c.1136_1153delAACACTTAATTGGGAAGA c.(1135-1155)gaacacttaattgggaagaaa>gaa p.HLIGKK380del DDX47_ENST00000352940.4_In_Frame_Del_p.HLIGKK331del NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 380 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) CAGCGCATAGAACACTTAATTGGGAAGAAACTACCAGG 0.454 11 72 --- --- --- --- SMARCA1 6594 broad.mit.edu 37 X 128638774 128638774 + Frame_Shift_Del DEL A A - TCGA-HC-8256-01A-11D-2260-08 TCGA-HC-8256-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e9272d1-8ef5-42c5-933e-c466a8f22479 f1e42f84-82bb-4e9a-9093-d8dc73dc6653 g.chrX:128638774delA ENST00000371122.4 - 9 1233 c.1104delT c.(1102-1104)tttfs p.F368fs SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.F368fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.F368fs NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 368 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ACCAAGAATCAAAGTCCTGTA 0.343 44 46 --- --- --- ---