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 TROVE2 6738 broad.mit.edu 37 1 193045706 193045706 + Missense_Mutation SNP G G A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr1:193045706G>A ENST00000432079.1 + 3 620 c.52G>A c.(52-54)Gta>Ata p.V18I TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I|TROVE2_ENST00000367446.3_Missense_Mutation_p.V293I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I P10155 RO60_HUMAN TROVE domain family, member 2 293 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 TGCTAATTCAGTACTTGAACC 0.323 61 176 --- --- --- --- SLC41A1 254428 broad.mit.edu 37 1 205767940 205767940 + Missense_Mutation SNP A A G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr1:205767940A>G ENST00000367137.3 - 6 1715 c.701T>C c.(700-702)aTg>aCg p.M234T SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 234 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) AATCATGATCATACCTGGTGA 0.532 48 48 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226570790 226570790 + Missense_Mutation SNP G G A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr1:226570790G>A ENST00000366794.5 - 8 1249 c.1106C>T c.(1105-1107)cCt>cTt p.P369L NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 369 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GGAGGGCGGAGGCGTGGCCGC 0.532 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 67 193 --- --- --- --- IL1RL1 9173 broad.mit.edu 37 2 102968056 102968056 + Missense_Mutation SNP C C T TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr2:102968056C>T ENST00000233954.1 + 11 1617 c.1346C>T c.(1345-1347)aCc>aTc p.T449I NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 449 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TTCATCCTGACCCCTCAGATC 0.463 22 46 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141108609 141108609 + Splice_Site SNP T T A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr2:141108609T>A ENST00000389484.3 - 77 12622 c.e77-2 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTCAGAGCCTGGAGattatt 0.264 TSP Lung(27;0.18) 21 77 --- --- --- --- USP37 57695 broad.mit.edu 37 2 219418330 219418330 + Missense_Mutation SNP C C G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr2:219418330C>G ENST00000258399.3 - 5 686 c.274G>C c.(274-276)Gca>Cca p.A92P USP37_ENST00000338465.5_Missense_Mutation_p.A92P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P|USP37_ENST00000415516.1_Missense_Mutation_p.A20P|USP37_ENST00000454775.1_Missense_Mutation_p.A92P NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 92 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) ATTTCCTCTGCATCCTTACTT 0.433 3 67 --- --- --- --- ALS2CL 259173 broad.mit.edu 37 3 46721979 46721979 + Missense_Mutation SNP C C T TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr3:46721979C>T ENST00000318962.4 - 14 1572 c.1489G>A c.(1489-1491)Gtc>Atc p.V497I ALS2CL_ENST00000415953.1_Missense_Mutation_p.V497I NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 497 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GTGACCATGACCCCTGGGCCG 0.602 10 47 --- --- --- --- GABRA4 2557 broad.mit.edu 37 4 46976285 46976285 + Missense_Mutation SNP G G T rs75640222 TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr4:46976285G>T ENST00000264318.3 - 6 1667 c.685C>A c.(685-687)Caa>Aaa p.Q229K NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 229 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATACGGTTTGCCCAATCAAA 0.398 12 122 --- --- --- --- SH3RF1 57630 broad.mit.edu 37 4 170043369 170043369 + Missense_Mutation SNP G G A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr4:170043369G>A ENST00000284637.9 - 7 1569 c.1228C>T c.(1228-1230)Ctt>Ttt p.L410F SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 410 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GTGGAGGCAAGGACAGTGGCA 0.542 6 8 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 80088578 80088578 + Missense_Mutation SNP T T G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr5:80088578T>G ENST00000265081.6 + 19 2650 c.2570T>G c.(2569-2571)aTt>aGt p.I857S NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 857 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GAAAGAAAAATTGTAATAAAA 0.328 Mismatch excision repair (MMR) 3 69 --- --- --- --- ARRDC3 57561 broad.mit.edu 37 5 90670917 90670917 + Missense_Mutation SNP G G A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr5:90670917G>A ENST00000265138.3 - 5 958 c.692C>T c.(691-693)aCa>aTa p.T231I NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 231 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GAAGGCCTGTGTTTGGTAAAT 0.433 39 58 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44807185 44807185 + Missense_Mutation SNP A A G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr7:44807185A>G ENST00000309315.4 + 19 2849 c.2726A>G c.(2725-2727)aAc>aGc p.N909S ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 909 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCTACGAACAACAATGACGAC 0.557 16 36 --- --- --- --- SLC7A2 6542 broad.mit.edu 37 8 17396401 17396401 + Missense_Mutation SNP C C T TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr8:17396401C>T ENST00000470360.1 + 3 185 c.68C>T c.(67-69)gCc>gTc p.A23V SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V|SLC7A2_ENST00000494857.1_Intron P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 0 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) GGAACACCTGCCCCACCGGTT 0.408 35 101 --- --- --- --- DAPK1 1612 broad.mit.edu 37 9 90262289 90262289 + Missense_Mutation SNP A A G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr9:90262289A>G ENST00000469640.2 + 14 1675 c.1300A>G c.(1300-1302)Aac>Gac p.N434D DAPK1_ENST00000491893.1_Missense_Mutation_p.N434D|DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000408954.3_Missense_Mutation_p.N434D|DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D P53355 DAPK1_HUMAN death-associated protein kinase 1 434 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCTCAGTGAGAACAAATGCCC 0.507 Chronic Lymphocytic Leukemia, Familial Clustering of 20 50 --- --- --- --- ZNF365 22891 broad.mit.edu 37 10 64136573 64136573 + Silent SNP A A G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr10:64136573A>G ENST00000395254.3 + 2 901 c.621A>G c.(619-621)aaA>aaG p.K207K ZNF365_ENST00000410046.3_Silent_p.K207K|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Silent_p.K207K NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TGACTCAGAAAAAGCAGGAAG 0.507 32 91 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1248357 1248357 + Silent SNP C C T TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr11:1248357C>T ENST00000447027.1 + 5 616 c.558C>T c.(556-558)aaC>aaT p.N186N MUC5B_ENST00000529681.1_Silent_p.N186N Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 186 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCTGTGGAACGGAGAGGACA 0.662 8 25 --- --- --- --- KCNK4 50801 broad.mit.edu 37 11 64064397 64064397 + Missense_Mutation SNP G G A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr11:64064397G>A ENST00000538767.1 + 2 290 c.38G>A c.(37-39)cGa>cAa p.R13Q KCNK4_ENST00000394525.2_Silent_p.S79S|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000539216.1_Silent_p.S79S|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.S79S Q9NYG8 KCNK4_HUMAN potassium channel, subfamily K, member 4 379 integral to membrane potassium channel activity|voltage-gated ion channel activity breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 10 AAACCAACTCGACCAGCAACA 0.612 12 35 --- --- --- --- SRSF8 10929 broad.mit.edu 37 11 94800909 94800909 + RNA SNP C C A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr11:94800909C>A ENST00000529911.1 + 0 549 NM_032102.3 NP_115285.1 Q9BRL6 SRSF8_HUMAN serine/arginine-rich splicing factor 8 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding ACAGCGCTCTCCCTACAGCAG 0.587 7 54 --- --- --- --- TMEM132D 121256 broad.mit.edu 37 12 129559089 129559089 + Missense_Mutation SNP G G C TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr12:129559089G>C ENST00000422113.2 - 9 2957 c.2631C>G c.(2629-2631)caC>caG p.H877Q TMEM132D_ENST00000389441.4_Missense_Mutation_p.H415Q NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 877 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGGTCTGCAAGTGGCTGTTGT 0.557 18 69 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20039450 20039450 + Missense_Mutation SNP T T G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr13:20039450T>G ENST00000400230.2 - 9 665 c.621A>C c.(619-621)gaA>gaC p.E207D TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D|TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 207 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GCCTTTTGTTTTCTGAAACCT 0.323 45 108 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21945674 21945674 + Missense_Mutation SNP A A G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr14:21945674A>G ENST00000405508.1 + 3 302 c.26A>G c.(25-27)aAt>aGt p.N9S TOX4_ENST00000262709.3_Missense_Mutation_p.N9S|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Intron O94842 TOX4_HUMAN TOX high mobility group box family member 4 9 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGAAATGACAATTACCTGACG 0.607 OREG0022569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 82 --- --- --- --- NEUROD2 4761 broad.mit.edu 37 17 37762553 37762553 + Silent SNP C C A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr17:37762553C>A ENST00000302584.4 - 2 520 c.300G>T c.(298-300)cgG>cgT p.R100R NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 100 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) GCTTCTTGGGCCGCTCGCCCT 0.677 6 5 --- --- --- --- KLHL10 317719 broad.mit.edu 37 17 40001966 40001966 + Missense_Mutation SNP G G A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr17:40001966G>A ENST00000293303.4 + 3 1426 c.1273G>A c.(1273-1275)Gat>Aat p.D425N NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 425 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) ACAGAGGAGTGATGCAAGCGC 0.493 34 39 --- --- --- --- EFTUD2 9343 broad.mit.edu 37 17 42953449 42953449 + Missense_Mutation SNP C C T TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr17:42953449C>T ENST00000426333.2 - 10 1019 c.722G>A c.(721-723)cGg>cAg p.R241Q EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 241 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CTTGATCAGCCGCTCTGTGTT 0.507 4 136 --- --- --- --- WDR7 23335 broad.mit.edu 37 18 54547218 54547218 + Silent SNP T T C TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr18:54547218T>C ENST00000254442.3 + 21 3559 c.3348T>C c.(3346-3348)tcT>tcC p.S1116S WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1083S NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1116 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TTTCTACATCTTACGAGGAAA 0.363 19 38 --- --- --- --- CYTH4 27128 broad.mit.edu 37 22 37707052 37707052 + Missense_Mutation SNP C C T TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr22:37707052C>T ENST00000248901.6 + 10 1019 c.832C>T c.(832-834)Cgg>Tgg p.R278W NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 278 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GACGTGGAAACGGCGCTGGTT 0.642 24 94 --- --- --- --- NUP160 23279 broad.mit.edu 37 11 47861461 47861461 + Frame_Shift_Del DEL G G - TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ba16d8-9bb6-47e4-a32c-887197f7b36d 3d8fd88e-7661-4504-aa5b-a45bb03b8ee1 g.chr11:47861461delG ENST00000378460.2 - 4 728 c.682delC c.(682-684)ctgfs p.L228fs NUP160_ENST00000528071.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000530326.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 228 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 AAGGCAAACAGGGCCTCCCCA 0.458 32 68 --- --- --- ---