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 pox qox pox_cutoff isArtifactMode oxoGCut PRICKLE2 166336 broad.mit.edu 37 3 64085137 64085137 + Missense_Mutation SNP A A C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr3:64085137A>C ENST00000295902.6 - 8 2710 c.2125T>G c.(2125-2127)Tcc>Gcc p.S709A PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S765A|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 709 Arg-rich. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TTTAACCGGGAGATGGCCTCG 0.637000 15 33 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139726231 139726231 + Missense_Mutation SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr9:139726231G>A ENST00000371675.3 + 6 1057 c.172G>A c.(172-174)Gtg>Atg p.V58M RABL6_ENST00000357466.2_Missense_Mutation_p.V173M|RABL6_ENST00000371663.4_Missense_Mutation_p.V173M|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.V135M|RABL6_ENST00000371671.4_Missense_Mutation_p.V173M|RABL6_ENST00000311502.7_Missense_Mutation_p.V173M RAB, member RAS oncogene family-like 6 GCCAGTGTGCGTGCTGGGAAA 0.607000 18 29 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 908301 908301 + Missense_Mutation SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr18:908301G>A ENST00000579794.1 + 3 556 c.278G>A c.(277-279)cGc>cAc p.R93H ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R93H NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 93 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GAGGCCTACCGCAAAGTGCTG 0.647000 3 24 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175936 207175936 + Silent SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr2:207175936G>A ENST00000374423.3 + 5 7070 c.6684G>A c.(6682-6684)tcG>tcA p.S2228S NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2228 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AGTATATTTCGAAATACTCTG 0.363000 8 20 0 0 1 0 0 FBXL17 64839 broad.mit.edu 37 5 107356650 107356650 + Missense_Mutation SNP C C T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr5:107356650C>T ENST00000542267.1 - 7 2204 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M FBXL17_ENST00000496714.1_Missense_Mutation_p.V202M|FBXL17_ENST00000359660.5_Missense_Mutation_p.V202M NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 600 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) TTACAGGACACCAAATATAGC 0.313000 10 29 0 0 1 0 0 TGFB2 7042 broad.mit.edu 37 1 218607454 218607454 + Missense_Mutation SNP A A G TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr1:218607454A>G ENST00000366929.4 + 4 1092 c.625A>G c.(625-627)Acc>Gcc p.T209A TGFB2_ENST00000366930.4_Missense_Mutation_p.T181A NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 181 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AACATCTCCAACCCAGCGCTA 0.433000 5 109 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135866331 135866331 + Missense_Mutation SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr9:135866331G>A ENST00000339463.3 + 11 1706 c.887G>A c.(886-888)cGc>cAc p.R296H GFI1B_ENST00000372123.1_Missense_Mutation_p.R250H|GFI1B_ENST00000450530.1_Missense_Mutation_p.R296H|GFI1B_ENST00000372122.1_Missense_Mutation_p.R296H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R250H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R250H Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 296 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) ACCCACAGCCGCAAGCACACA 0.627000 11 33 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107288538 107288538 + Missense_Mutation SNP T T A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr9:107288538T>A ENST00000277216.3 - 1 952 c.953A>T c.(952-954)cAg>cTg p.Q318L NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TTGATCTTACTGGTTAATAGC 0.373000 33 70 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249535 52249535 + Missense_Mutation SNP C C T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr19:52249535C>T ENST00000595042.1 - 3 854 c.713G>A c.(712-714)cGt>cAt p.R238H FPR1_ENST00000304748.4_Missense_Mutation_p.R238H NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 238 R -> P (in Ref. 1; AAA36362). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CCGTAAGGGACGACTGGACTT 0.517000 9 28 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129913572 129913572 + Missense_Mutation SNP T T C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr10:129913572T>C ENST00000368654.3 - 7 1475 c.1100A>G c.(1099-1101)tAt>tGt p.Y367C MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 367 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ACCAGTAGTATACAGGTCTTT 0.418000 46 83 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158064789 158064789 + Missense_Mutation SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr1:158064789G>A ENST00000368172.1 + 11 1607 c.1595G>A c.(1594-1596)cGg>cAg p.R532Q KIRREL_ENST00000368173.3_Missense_Mutation_p.R734Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R554Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R615Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.R718Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R618Q Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 718 integral to membrane p.R554Q(1)|p.R734Q(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GGCCTGGAGCGGACCCCATAT 0.617000 4 13 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654457 61654457 + Missense_Mutation SNP T T G TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr18:61654457T>G ENST00000397985.2 + 7 1326 c.1070T>G c.(1069-1071)aTc>aGc p.I357S SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.I357S|SERPINB8_ENST00000542677.1_Missense_Mutation_p.I175S NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 357 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) CTTTTCTTCATCAGGCACCAC 0.507000 38 38 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99661891 99661891 + Missense_Mutation SNP C C T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr7:99661891C>T ENST00000292450.4 + 4 1237 c.1073C>T c.(1072-1074)gCg>gTg p.A358V ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R324C|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R324C NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 358 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) ACAGAAGAGGCGCCATATCAG 0.498000 25 26 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35763243 35763243 + Missense_Mutation SNP C C T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr3:35763243C>T ENST00000187397.4 + 14 1598 c.1142C>T c.(1141-1143)aCg>aTg p.T381M ARPP21_ENST00000458225.1_Missense_Mutation_p.T347M|ARPP21_ENST00000444190.1_Missense_Mutation_p.T327M|ARPP21_ENST00000417925.1_Missense_Mutation_p.T347M|ARPP21_ENST00000337271.5_Missense_Mutation_p.T327M NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 381 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATGACCAAGACGGCGAGTTTT 0.542000 12 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179489271 179489271 + Missense_Mutation SNP A A T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr2:179489271A>T ENST00000589042.1 - 242 44960 c.44736T>A c.(44734-44736)caT>caA p.H14912Q TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H5972Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12344Q|TTN_ENST00000342175.6_Missense_Mutation_p.H6039Q|TTN_ENST00000460472.2_Missense_Mutation_p.H5847Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H13271Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13271 Fibronectin type-III 8. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGTACAGTCATGTATAACAA 0.368000 24 49 0 0 1 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905792 132905792 + Missense_Mutation SNP G G C rs143919579 by1000genomes TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr2:132905792G>C ENST00000409867.1 - 6 938 c.689C>G c.(688-690)tCt>tGt p.S230C ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like p.S230C(2) endometrium(1)|kidney(3) 4 TGTTCCTTCAGATGTTCCTTC 0.443000 3 13 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633777 32633777 + Missense_Mutation SNP C C T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr9:32633777C>T ENST00000242310.4 - 1 1890 c.1801G>A c.(1801-1803)Ggc>Agc p.G601S RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 601 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCAAAGGTGCCCCGAAGACCC 0.488000 6 151 0 0 1 0 0 TIMM22 29928 broad.mit.edu 37 17 900393 900393 + Missense_Mutation SNP C C G TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr17:900393C>G ENST00000327158.3 + 1 37 c.11C>G c.(10-12)gCc>gGc p.A4G NM_013337.2 NP_037469.2 Q9Y584 TIM22_HUMAN translocase of inner mitochondrial membrane 22 homolog (yeast) 4 transmembrane transport integral to membrane|mitochondrial inner membrane protein transporter activity breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) ATGGCGGCGGCCGCCCCCAAT 0.667000 8 8 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108211370 108211370 + Missense_Mutation SNP A A G TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr3:108211370A>G ENST00000273353.3 - 10 964 c.908T>C c.(907-909)cTa>cCa p.L303P NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 303 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTGTCCAGATAGAATTTGATA 0.368000 16 9 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639651 149639651 + Silent SNP A A G TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chrX:149639651A>G ENST00000370401.2 + 4 2116 c.1806A>G c.(1804-1806)caA>caG p.Q602Q MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q Q13495 MAMD1_HUMAN mastermind-like domain containing 1 602 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) agcagcagcaacagcagcagc 0.602000 3 47 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57957910 57957910 + Missense_Mutation SNP A A T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr12:57957910A>T ENST00000455537.2 + 4 585 c.311A>T c.(310-312)cAg>cTg p.Q104L KIF5A_ENST00000286452.5_Intron NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 104 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CACGACCCTCAGCTGATGGGA 0.512000 11 32 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120474795 120474795 + Missense_Mutation SNP A A C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr9:120474795A>C ENST00000355622.6 + 3 490 c.389A>C c.(388-390)aAg>aCg p.K130T TLR4_ENST00000394487.4_Missense_Mutation_p.K90T|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 130 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AGTTTACAGAAGCTGGTGGCT 0.438000 20 55 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr17:47696426A>C ENST00000393331.3 - 7 867 c.397T>G c.(397-399)Ttc>Gtc p.F133V SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V 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.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448000 Prostate(2;0.17) 38 70 0 0 1 0 0 ABCD3 5825 broad.mit.edu 37 1 94946040 94946040 + Silent SNP C C A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr1:94946040C>A ENST00000370214.4 + 9 729 c.705C>A c.(703-705)gcC>gcA p.A235A ABCD3_ENST00000454898.2_Silent_p.A259A|ABCD3_ENST00000536817.1_Silent_p.A162A|ABCD3_ENST00000394233.2_Silent_p.A235A NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 235 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) GCATGATGGCCTACTTGGTTG 0.363000 31 52 8.4185e-14 8.77674e-14 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22154452 22154452 + Silent SNP A A G TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr19:22154452A>G ENST00000397126.4 - 4 3532 c.3384T>C c.(3382-3384)ctT>ctC p.L1128L ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.L1000L(2)|p.L1128L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TATGTTTAGTAAGGATTGAGA 0.373000 3 58 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9475308 9475308 + Splice_Site SNP G G C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr2:9475308G>C ENST00000281419.3 + 9 1189 c.849_splice c.e9+1 p.E283_splice ASAP2_ENST00000315273.4_Splice_Site_p.E283_splice NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 283 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 AACAGAAAGAGGTGAGGGGAT 0.413000 5 43 0 0 1 0 0 PCDHA13 0 broad.mit.edu 37 5 140263149 140263149 + Silent SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr5:140263149G>A ENST00000289272.2 + 1 1296 c.1296G>A c.(1294-1296)tcG>tcA p.S432S PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.S432S|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGGGGCTCGCCTTCGCTGT 0.657000 5 137 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 108 0 0 1 0 0 EMILIN1 11117 broad.mit.edu 37 2 27305360 27305360 + Silent SNP C C T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr2:27305360C>T ENST00000380320.4 + 4 1420 c.921C>T c.(919-921)gcC>gcT p.A307A NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 307 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTGCCTGGCCGGGCTAGATG 0.721000 4 3 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073250 134073250 + Missense_Mutation SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr4:134073250G>A ENST00000264360.4 + 1 2781 c.1955G>A c.(1954-1956)cGg>cAg p.R652Q NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 652 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GACCCCCAGCGGCCTTATGAG 0.677000 6 11 0 0 1 0 0 DCXR 51181 broad.mit.edu 37 17 79995534 79995534 + Missense_Mutation SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr17:79995534G>A ENST00000306869.2 - 1 74 c.25C>T c.(25-27)Cgg>Tgg p.R9W NM_001195218.1|NM_016286.3 NP_001182147.1|NP_057370.1 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 9 D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process membrane binding|L-xylulose reductase (NADP+) activity kidney(1)|lung(3) 4 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) ACCAGCACCCGGCGGCCCGCG 0.746000 4 8 0 0 1 0 0 RPL29 6159 broad.mit.edu 37 3 52027888 52027888 + Silent SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr3:52027888G>A ENST00000466397.1 - 4 497 c.357C>T c.(355-357)tgC>tgT p.C119C RPL29_ENST00000479017.1_Silent_p.C119C|RPL29_ENST00000475248.1_Silent_p.C119C|RPL29_ENST00000294189.6_Silent_p.C119C|RPL29_ENST00000495383.1_Silent_p.C119C P47914 RL29_HUMAN ribosomal protein L29 119 embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|protein binding|RNA binding|structural constituent of ribosome lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) cctttggccGGCACAGCCTGA 0.622000 3 37 0 0 1 0 0 FLOT1 10211 broad.mit.edu 37 6 30708568 30708568 + Missense_Mutation SNP T T C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr6:30708568T>C ENST00000376389.3 - 6 582 c.362A>G c.(361-363)tAt>tGt p.Y121C FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.Y73C NM_005803.2 NP_005794.1 O75955 FLOT1_HUMAN flotillin 1 121 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13 CCTGTCCTTATAGATCTCCTG 0.438000 5 57 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73528785 73528785 + Silent SNP A A C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr15:73528785A>C ENST00000339362.5 + 9 1836 c.1389A>C c.(1387-1389)gcA>gcC p.A463A NEO1_ENST00000560262.1_Silent_p.A463A|NEO1_ENST00000261908.6_Silent_p.A463A|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Silent_p.A463A Q92859 NEO1_HUMAN neogenin 1 463 Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 GGACACCTGCATCAGATCCTC 0.562000 39 68 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285491 16285491 + Silent SNP C C T rs16962973 TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr17:16285491C>T ENST00000302182.3 + 2 662 c.270C>T c.(268-270)acC>acT p.T90T UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 90 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGACCATCACCCTGGAAGTGG 0.552000 4 80 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36043027 36043027 + Missense_Mutation SNP T T C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr21:36043027T>C ENST00000360731.3 + 1 1340 c.1340T>C c.(1339-1341)cTg>cCg p.L447P CLIC6_ENST00000349499.2_Missense_Mutation_p.L447P Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 447 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 CCCCGGGCCCTGGGGCAGGAG 0.667000 9 9 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117241512 117241512 + Missense_Mutation SNP T T C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr6:117241512T>C ENST00000332958.2 + 12 1238 c.1222T>C c.(1222-1224)Tct>Cct p.S408P NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 408 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGTCGTTAATTCTATGGTGTC 0.398000 8 80 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93090147 93090147 + Missense_Mutation SNP C C T TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr7:93090147C>T ENST00000359558.2 - 10 1035 c.736G>A c.(736-738)Gtg>Atg p.V246M CALCR_ENST00000394441.1_Missense_Mutation_p.V212M|CALCR_ENST00000360249.4_Missense_Mutation_p.V228M|CALCR_ENST00000421592.1_Missense_Mutation_p.V228M|CALCR_ENST00000426151.1_Missense_Mutation_p.V212M NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 228 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TCCCTTCGCACGAGCTCTCCA 0.383000 39 68 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 192863838 192863838 + Silent SNP T T C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr2:192863838T>C ENST00000392314.1 - 6 1024 c.633A>G c.(631-633)gcA>gcG p.A211A AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Silent_p.A211A Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 211 Kazal-like 2. extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TCTGACACGATGCTTCTTTGA 0.368000 28 47 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72338097 72338097 + Missense_Mutation SNP G G C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr15:72338097G>C ENST00000356056.5 - 2 1280 c.808C>G c.(808-810)Cag>Gag p.Q270E MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q270E NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 270 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGAATAATCTGTTCTACTCCA 0.388000 17 29 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29196386 29196386 + Missense_Mutation SNP G G A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr17:29196386G>A ENST00000321990.4 + 13 3812 c.3434G>A c.(3433-3435)tGt>tAt p.C1145Y NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1145 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GTGTATGCTTGTGCCCAGGAG 0.398000 6 85 0 0 1 0 0 YWHAZ 7534 broad.mit.edu 37 8 101960982 101960982 + Missense_Mutation SNP C C A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr8:101960982C>A ENST00000395957.2 - 3 477 c.136G>T c.(136-138)Gtt>Ttt p.V46F YWHAZ_ENST00000419477.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395951.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395953.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395956.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395958.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000353245.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000457309.1_Missense_Mutation_p.V46F P63104 1433Z_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 46 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding large_intestine(1)|lung(2) 3 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) TTATAAGCAACTGAGAGAAGA 0.473000 4 91 0.00909568 0.00909568 1 1 0 FSIP2 401024 broad.mit.edu 37 2 186678578 186678578 + Missense_Mutation SNP T T A TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr2:186678578T>A ENST00000343098.5 + 18 20401 c.20401T>A c.(20401-20403)Ttt>Att p.F6801I FSIP2_ENST00000424728.1_Missense_Mutation_p.F6712I NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CCTGAAAAAATTTTTGTCACT 0.373000 27 36 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 4 2 --- --- --- --- ERN1 2081 broad.mit.edu 37 17 62207360 62207362 + In_Frame_Del DEL CAG CAG - TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5232ee2-18b3-4257-8a61-5d460b11ee7e fc1ad195-6261-4275-bed6-8d52f2622b1a g.chr17:62207360_62207362delCAG ENST00000433197.2 - 1 123_125 c.28_30delCTG c.(28-30)del p.L10del ERN1_ENST00000606895.1_In_Frame_Del_p.L10del NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 10 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 gcagcagcgtcagcagcagcagc 0.793 2 4 --- --- --- ---