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 CROCCP2 84809 broad.mit.edu 37 1 16946393 16946393 + RNA SNP G G A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr1:16946393G>A ENST00000412962.1 - 0 1126 TCCTGCTGCAGGGCAGCAATC 0.662 5 37 --- --- --- --- PLEKHA6 22874 broad.mit.edu 37 1 204236639 204236639 + Missense_Mutation SNP A A G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr1:204236639A>G ENST00000272203.3 - 5 560 c.244T>C c.(244-246)Ttc>Ctc p.F82L PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 82 PH. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) ACCAGGACGAACCAGCGCTTG 0.587 17 55 --- --- --- --- OR2T35 403244 broad.mit.edu 37 1 248801912 248801912 + Silent SNP C C G rs146851066 by1000genomes TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr1:248801912C>G ENST00000317450.3 - 1 647 c.648G>C c.(646-648)gtG>gtC p.V216V NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V216V(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCGTGTAGGACACAGAGATGA 0.542 3 20 --- --- --- --- LRRFIP1 9208 broad.mit.edu 37 2 238668784 238668784 + Silent SNP A A G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr2:238668784A>G ENST00000244815.5 + 9 993 c.753A>G c.(751-753)caA>caG p.Q251Q LRRFIP1_ENST00000308482.9_Silent_p.Q465Q|LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000392000.4_Silent_p.Q275Q NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 275 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) TTGGATACCAAGGTCCTACCA 0.433 20 45 --- --- --- --- METTL6 131965 broad.mit.edu 37 3 15467811 15467811 + Missense_Mutation SNP G G C TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr3:15467811G>C ENST00000443029.1 - 2 448 c.208C>G c.(208-210)Cta>Gta p.L70V METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V Q8TCB7 METL6_HUMAN methyltransferase like 6 70 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 CATGATCTTAGCTCCTCAAAC 0.398 9 51 --- --- --- --- C3orf17 25871 broad.mit.edu 37 3 112732806 112732806 + Missense_Mutation SNP G G A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr3:112732806G>A ENST00000314400.5 - 3 526 c.335C>T c.(334-336)tCt>tTt p.S112F C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 112 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TTACTTGGAAGAAAACAACTC 0.408 84 133 --- --- --- --- TF 7018 broad.mit.edu 37 3 133465321 133465321 + Missense_Mutation SNP G G A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr3:133465321G>A ENST00000402696.3 + 1 522 c.37G>A c.(37-39)Gtc>Atc p.V13I TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA NM_001063.3 NP_001054 P02787 TRFE_HUMAN transferrin 13 cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GGTCTGCGCCGTCCTGGGTGA 0.736 3 25 --- --- --- --- TFDP2 7029 broad.mit.edu 37 3 141671514 141671514 + Missense_Mutation SNP A A T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr3:141671514A>T ENST00000499676.2 - 13 1673 c.1002T>A c.(1000-1002)gaT>gaA p.D334E TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000489671.1_Missense_Mutation_p.D394E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 394 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 CCACTTCTGCATCCAAGCATA 0.483 4 53 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147561671 147561671 + Missense_Mutation SNP C C G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr4:147561671C>G ENST00000281321.3 + 2 1189 c.941C>G c.(940-942)gCg>gGg p.A314G NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 314 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) AATATGATCGCGCTCAAACCC 0.602 18 71 --- --- --- --- PCDHGA9 56107 broad.mit.edu 37 5 140783165 140783165 + Missense_Mutation SNP G G T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr5:140783165G>T ENST00000573521.1 + 1 646 c.646G>T c.(646-648)Gat>Tat p.D216Y PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGCCTCGGATGGCGGCGA 0.597 10 52 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152646275 152646275 + Missense_Mutation SNP C C G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr6:152646275C>G ENST00000367255.5 - 81 16202 c.15601G>C c.(15601-15603)Gac>Cac p.D5201H SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5201 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCTCCTGGTCCTGGGCCACA 0.537 HNSCC(10;0.0054) 78 79 --- --- --- --- EPDR1 54749 broad.mit.edu 37 7 37960746 37960746 + Missense_Mutation SNP T T A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr7:37960746T>A ENST00000199448.4 + 1 584 c.205T>A c.(205-207)Tac>Aac p.Y69N EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 69 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 CCTGCTCTCCTACGACGGGCT 0.706 14 38 --- --- --- --- TRGC1 6966 broad.mit.edu 37 7 38299789 38299789 + RNA SNP A A G rs117590081 by1000genomes TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr7:38299789A>G ENST00000443402.2 - 0 420 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 GAGGAGGTACATGTAATATGC 0.423 3 21 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128450335 128450335 + Missense_Mutation SNP G G A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr7:128450335G>A ENST00000297788.4 + 12 2310 c.1943G>A c.(1942-1944)cGt>cAt p.R648H CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron NM_022742.4 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 648 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GAGCTGCGACGTTTCAAAGAG 0.433 8 46 --- --- --- --- SLC7A2 6542 broad.mit.edu 37 8 17418005 17418005 + Silent SNP G G A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr8:17418005G>A ENST00000470360.1 + 11 1701 c.1584G>A c.(1582-1584)caG>caA p.Q528Q SLC7A2_ENST00000004531.10_Silent_p.Q529Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000494857.1_Silent_p.Q489Q P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 489 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CAACACAGCAGTCAGCTTCTC 0.532 59 42 --- --- --- --- XPO7 23039 broad.mit.edu 37 8 21829421 21829421 + Missense_Mutation SNP T T G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr8:21829421T>G ENST00000434536.1 + 5 563 c.461T>G c.(460-462)aTt>aGt p.I154S XPO7_ENST00000433566.4_Missense_Mutation_p.I155S|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Missense_Mutation_p.I154S Q9UIA9 XPO7_HUMAN exportin 7 154 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GGTGTCACAATTTTATCTCAG 0.353 42 30 --- --- --- --- CUL2 8453 broad.mit.edu 37 10 35318439 35318439 + Missense_Mutation SNP T T G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr10:35318439T>G ENST00000374748.1 - 16 1829 c.1516A>C c.(1516-1518)Agt>Cgt p.S506R CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000374749.3_Missense_Mutation_p.S506R Q13617 CUL2_HUMAN cullin 2 506 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 ATTTGAAAACTAATTCCCAAA 0.318 8 15 --- --- --- --- CYP2C8 1558 broad.mit.edu 37 10 96827440 96827440 + Missense_Mutation SNP T T G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr10:96827440T>G ENST00000371270.3 - 2 271 c.177A>C c.(175-177)aaA>aaC p.K59N CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 59 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GACCATAGACTTTTGAGAACT 0.388 12 16 --- --- --- --- OR4A15 81328 broad.mit.edu 37 11 55135991 55135991 + Missense_Mutation SNP C C A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr11:55135991C>A ENST00000314706.3 + 1 632 c.632C>A c.(631-633)cCc>cAc p.P211H NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GATTTGTATCCCTTATTGAAA 0.413 16 85 --- --- --- --- OR5D13 390142 broad.mit.edu 37 11 55541087 55541087 + Silent SNP T T C TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr11:55541087T>C ENST00000361760.1 + 1 174 c.174T>C c.(172-174)caT>caC p.H58H NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CAAAACTCCATACAATCATGT 0.403 5 92 --- --- --- --- SYT7 9066 broad.mit.edu 37 11 61323611 61323611 + Missense_Mutation SNP G G C rs144496851 by1000genomes TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr11:61323611G>C ENST00000263846.4 - 2 427 c.100C>G c.(100-102)Ctc>Gtc p.L34V SYT7_ENST00000542836.1_Missense_Mutation_p.L34V|SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 34 cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AGGCCGCAGAGGACGACAGTG 0.662 13 23 --- --- --- --- PPFIBP1 8496 broad.mit.edu 37 12 27835611 27835611 + Missense_Mutation SNP G G T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr12:27835611G>T ENST00000318304.8 + 23 2523 c.2240G>T c.(2239-2241)gGt>gTt p.G747V PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 747 SAM 2. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CGGGTTGATGGTCGAATGCTA 0.448 35 77 --- --- --- --- SYT10 341359 broad.mit.edu 37 12 33579131 33579131 + Missense_Mutation SNP G G A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr12:33579131G>A ENST00000228567.3 - 2 747 c.451C>T c.(451-453)Cat>Tat p.H151Y SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 151 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTAATTAAATGTTCTTTTAAA 0.403 64 68 --- --- --- --- WIF1 11197 broad.mit.edu 37 12 65461496 65461496 + Missense_Mutation SNP G G T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr12:65461496G>T ENST00000286574.4 - 5 987 c.613C>A c.(613-615)Cac>Aac p.H205N NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 205 EGF-like 1. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TGAGGTCCGTGGAACCCATCA 0.507 T HMGA2 pleomorphic salivary gland adenoma 5 23 --- --- --- --- FAM216A 29902 broad.mit.edu 37 12 110924408 110924408 + Missense_Mutation SNP C C T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr12:110924408C>T ENST00000377673.5 + 5 1018 c.506C>T c.(505-507)aCa>aTa p.T169I NM_013300.2 NP_037432.2 Q8WUB2 CL024_HUMAN family with sequence similarity 216, member A 169 CCTTGCACTACATGGCGACAT 0.507 66 93 --- --- --- --- TUBA3C 7278 broad.mit.edu 37 13 19748102 19748102 + Missense_Mutation SNP G G T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr13:19748102G>T ENST00000400113.3 - 5 1358 c.1254C>A c.(1252-1254)ttC>ttA p.F418L NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 418 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GGGCCTCAGAGAACTCCCCCT 0.587 16 211 --- --- --- --- PIBF1 10464 broad.mit.edu 37 13 73396007 73396007 + Silent SNP A A G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr13:73396007A>G ENST00000326291.6 + 6 1031 c.693A>G c.(691-693)aaA>aaG p.K231K NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 231 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AAGATCGAAAAAACTACTCTG 0.348 11 7 --- --- --- --- DACT1 51339 broad.mit.edu 37 14 59112126 59112126 + Translation_Start_Site SNP A A T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr14:59112126A>T ENST00000541264.2 + 0 755 DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame|DACT1_ENST00000335867.4_Missense_Mutation_p.N262I|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GTGTCTAAAAACGGGAATGAT 0.493 9 66 --- --- --- --- MTA1 9112 broad.mit.edu 37 14 105936451 105936451 + Missense_Mutation SNP C C T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr14:105936451C>T ENST00000331320.7 + 21 2261 c.2047C>T c.(2047-2049)Cgg>Tgg p.R683W MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 683 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) TGCTGCCCGCCGGCCCTACAA 0.701 5 106 --- --- --- --- SLC24A5 283652 broad.mit.edu 37 15 48431347 48431347 + Silent SNP C C A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr15:48431347C>A ENST00000341459.3 + 7 1126 c.1053C>A c.(1051-1053)atC>atA p.I351I SLC24A5_ENST00000449382.2_Silent_p.I291I NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 351 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TTACATATATCCTGGTTTGGA 0.303 17 13 --- --- --- --- ITGAM 3684 broad.mit.edu 37 16 31277424 31277424 + Missense_Mutation SNP C C T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr16:31277424C>T ENST00000544665.3 + 5 454 c.383C>T c.(382-384)tCc>tTc p.S128F ITGAM_ENST00000287497.8_Missense_Mutation_p.S128F NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 128 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CTGTTTGGATCCAACCTACGG 0.612 17 46 --- --- --- --- SLC7A5 8140 broad.mit.edu 37 16 87872329 87872329 + Missense_Mutation SNP G G A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr16:87872329G>A ENST00000261622.4 - 6 1099 c.1034C>T c.(1033-1035)aCa>aTa p.T345I SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 345 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) CCTGGAGGATGTGAACAGGGA 0.587 19 64 --- --- --- --- KRT16 3868 broad.mit.edu 37 17 39767667 39767667 + Missense_Mutation SNP C C G TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr17:39767667C>G ENST00000301653.4 - 3 765 c.701G>C c.(700-702)aGg>aCg p.R234T NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 234 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) CAGGTCAGTCCTGGCCAGGGT 0.632 44 68 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696425 47696425 + Missense_Mutation SNP A A C TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr17:47696425A>C ENST00000393331.3 - 7 868 c.398T>G c.(397-399)tTc>tGc p.F133C SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133C(3)|p.F133S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAATTTCTTGAATCCCCAGTC 0.448 Prostate(2;0.17) 48 84 --- --- --- --- KIF19 124602 broad.mit.edu 37 17 72340364 72340364 + Silent SNP C C A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr17:72340364C>A ENST00000389916.4 + 6 597 c.459C>A c.(457-459)atC>atA p.I153I NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 153 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCCGTCAGATCTACAATGAGA 0.627 32 39 --- --- --- --- KDSR 2531 broad.mit.edu 37 18 61030014 61030014 + Missense_Mutation SNP C C T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr18:61030014C>T ENST00000406396.3 - 2 587 c.196G>A c.(196-198)Gag>Aag p.E66K KDSR_ENST00000326575.5_Missense_Mutation_p.E66K NM_002035.2 NP_002026.1 Q06136 KDSR_HUMAN 3-ketodihydrosphingosine reductase 66 3-keto-sphinganine metabolic process endoplasmic reticulum membrane|extracellular space|integral to membrane 3-dehydrosphinganine reductase activity|binding endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 9 AGCCTTACCTCATTTCGTGCA 0.413 18 24 --- --- --- --- CAPN12 147968 broad.mit.edu 37 19 39233710 39233710 + Missense_Mutation SNP T T A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr19:39233710T>A ENST00000328867.4 - 2 578 c.270A>T c.(268-270)gaA>gaT p.E90D CAPN12_ENST00000601953.1_Intron NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 90 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GGCTCATGTCTTCACAGATGA 0.572 9 68 --- --- --- --- ARFGEF2 10564 broad.mit.edu 37 20 47588909 47588909 + Missense_Mutation SNP G G T TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr20:47588909G>T ENST00000371917.4 + 11 1472 c.1472G>T c.(1471-1473)aGt>aTt p.S491I NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 491 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ACATCAACAAGTTCTTTTGAG 0.413 12 22 --- --- --- --- RTDR1 27156 broad.mit.edu 37 22 23401783 23401783 + Missense_Mutation SNP C C A TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr22:23401783C>A ENST00000216036.4 - 7 1100 c.904G>T c.(904-906)Gcc>Tcc p.A302S NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 302 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CCCTCGGGGGCCTCTGCCAGC 0.642 32 136 --- --- --- --- MAP7D2 256714 broad.mit.edu 37 X 20060693 20060693 + Missense_Mutation SNP A A G rs140590662 byFrequency TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chrX:20060693A>G ENST00000379651.3 - 7 829 c.811T>C c.(811-813)Ttc>Ctc p.F271L MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 271 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 GGGGACCCGAAGTTCACAACA 0.512 6 132 --- --- --- --- ADAM28 10863 broad.mit.edu 37 8 24157535 24157558 + In_Frame_Del DEL ATCCTATAAGACTTCATCCACTGC ATCCTATAAGACTTCATCCACTGC - TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC ENST00000265769.4 + 2 205_228 c.95_118delATCCTATAAGACTTCATCCACTGC c.(94-120)tatcctataagacttcatccactgcat>tat p.PIRLHPLH33del ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_In_Frame_Del_p.PIRLHPLH33del|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 33 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.R35I(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GAAGTGGTTTATCCTATAAGACTTCATCCACTGCATAAAAGAGA 0.362 7 53 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914964 23914967 + Frame_Shift_Del DEL AAGG AAGG - TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fb84b2b-2982-40fd-81c4-64892a963f04 5c810244-da67-425d-8315-da8c34d6a16f g.chr13:23914964_23914967delAAGG ENST00000382298.3 - 10 3636_3639 c.3048_3051delCCTT c.(3046-3051)gtccttfs p.VL1016fs SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.VL1016fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1016 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATAGATTCTCAAGGACCCATAACA 0.343 35 73 --- --- --- ---