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 SYT16 83851 broad.mit.edu 37 14 62547859 62547859 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr14:62547859G>A ENST00000430451.2 + 4 1498 c.1301G>A c.(1300-1302)cGc>cAc p.R434H RP11-355I22.5_ENST00000553990.1_lincRNA NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 434 C2 1. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TGTGCTGTCCGCTTCCGCCTG 0.572000 13 18 0 0 0.479597 0 0 WDR6 11180 broad.mit.edu 37 3 49049692 49049692 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr3:49049692G>A ENST00000395474.3 + 2 1095 c.815G>A c.(814-816)cGa>cAa p.R272Q WDR6_ENST00000448293.1_Missense_Mutation_p.R191Q|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 242 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) GGCGACCTGCGAGTGCCTGGG 0.552000 44 64 0 0 0.870114 0 0 DSP 1832 broad.mit.edu 37 6 7585482 7585482 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr6:7585482C>T ENST00000379802.3 + 24 8328 c.7987C>T c.(7987-7989)Cca>Tca p.P2663S DSP_ENST00000418664.2_Missense_Mutation_p.P2064S NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2663 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CATCATCCACCCAACCACGGG 0.562000 4 111 0 0 0.150653 0 0 FBXO46 23403 broad.mit.edu 37 19 46216180 46216180 + Nonsense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr19:46216180G>A ENST00000317683.3 - 2 707 c.574C>T c.(574-576)Cga>Tga p.R192* NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 192 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GTGGTCGGTCGTGGGTAGCTC 0.697000 7 9 0 0 0.248553 0 0 CREBBP 1387 broad.mit.edu 37 16 3781317 3781317 + Missense_Mutation SNP C C G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr16:3781317C>G ENST00000262367.5 - 30 5857 c.5048G>C c.(5047-5049)cGc>cCc p.R1683P CREBBP_ENST00000382070.3_Missense_Mutation_p.R1645P NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1683 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R1683H(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCACTTGGAGCGGCGCAAGGA 0.642000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 13 7 0 0 0.435327 0 0 SI 6476 broad.mit.edu 37 3 164741401 164741401 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr3:164741401C>T ENST00000264382.3 - 26 3118 c.3056G>A c.(3055-3057)cGt>cAt p.R1019H NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1019 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CACCTCCACACGAAGAGTTGA 0.388000 HNSCC(35;0.089) 27 56 0 0 0.706142 0 0 ATXN2 6311 broad.mit.edu 37 12 111908030 111908030 + Silent SNP A A G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr12:111908030A>G ENST00000377617.3 - 20 3359 c.3198T>C c.(3196-3198)taT>taC p.Y1066Y ATXN2_ENST00000542287.2_Silent_p.Y801Y|ATXN2_ENST00000535949.1_Silent_p.Y777Y|ATXN2_ENST00000389153.4_Silent_p.Y803Y|ATXN2_ENST00000550104.1_3'UTR NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1066 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 TTACAGGACTATAGACATGAG 0.418000 33 52 0 0 0.788014 0 0 GIGYF2 26058 broad.mit.edu 37 2 233674460 233674460 + Nonsense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr2:233674460C>T ENST00000373566.3 + 17 2100 c.1903C>T c.(1903-1905)Cag>Tag p.Q635* GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q444*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q635*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q613*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q634*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q607*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q613* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 613 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) ACTGACCAGGCAGCAAGAACT 0.433000 16 51 0 0 0.539581 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102984404 102984404 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr11:102984404G>A ENST00000375735.2 + 2 478 c.334G>A c.(334-336)Gta>Ata p.V112I DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V112I|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V112I NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 112 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTACCAAGCAGTACGGCAAGT 0.328000 20 37 0 0 0.624587 0 0 P2RY2 5029 broad.mit.edu 37 11 72945405 72945405 + Silent SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr11:72945405G>A ENST00000311131.2 + 3 668 c.201G>A c.(199-201)gcG>gcA p.A67A P2RY2_ENST00000393596.2_Silent_p.A67A|P2RY2_ENST00000393597.2_Silent_p.A67A NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 67 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CCTGGAATGCGTCCACCACAT 0.612000 18 37 0 0 0.539581 0 0 SLC46A2 57864 broad.mit.edu 37 9 115648895 115648895 + Splice_Site SNP T T G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr9:115648895T>G ENST00000374228.4 - 3 1446 c.1213_splice c.e3-1 p.G405_splice NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 405 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 CGAACACCTTTCCTGTGGAAG 0.542000 20 37 0 0 0.575678 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 49 0 0 0.150653 0 0 GUCY2F 2986 broad.mit.edu 37 X 108719025 108719025 + Missense_Mutation SNP C C A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chrX:108719025C>A ENST00000218006.2 - 2 432 c.141G>T c.(139-141)caG>caT p.Q47H NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 47 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GTGTCCACACCTGCTGCGGAA 0.567000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 48 1.62565e-12 1.81413e-12 0.760397 1 0 CDH6 1004 broad.mit.edu 37 5 31323148 31323148 + Silent SNP G G T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr5:31323148G>T ENST00000265071.2 + 12 2371 c.2106G>T c.(2104-2106)cgG>cgT p.R702R NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 702 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TACCCCGACGGACTCCAACAG 0.522000 15 24 2.62699e-14 2.97468e-14 0.479597 1 0 SYT16 83851 broad.mit.edu 37 14 62567163 62567163 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr14:62567163G>A ENST00000430451.2 + 6 1873 c.1676G>A c.(1675-1677)cGt>cAt p.R559H NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 559 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GAGATGTCCCGTTGCAAGACG 0.458000 11 16 0 0 0.411799 0 0 TYK2 7297 broad.mit.edu 37 19 10465220 10465220 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr19:10465220G>A ENST00000525621.1 - 19 3164 c.2683C>T c.(2683-2685)Cgc>Tgc p.R895C TYK2_ENST00000524462.1_Missense_Mutation_p.R710C|TYK2_ENST00000264818.6_Missense_Mutation_p.R895C NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 895 intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TTCAAATAGCGCTTGTGGAAA 0.577000 17 50 0 0 0.520397 0 0 ZNF280B 140883 broad.mit.edu 37 22 22842418 22842418 + Missense_Mutation SNP A A G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr22:22842418A>G ENST00000360412.2 - 4 2081 c.1306T>C c.(1306-1308)Ttt>Ctt p.F436L ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTGAGACAAAAGGGACAAAGC 0.428000 4 174 0 0 0.150653 0 0 ZNF624 57547 broad.mit.edu 37 17 16527452 16527452 + Nonsense_Mutation SNP C C A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr17:16527452C>A ENST00000311331.7 - 6 839 c.748G>T c.(748-750)Gag>Tag p.E250* NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCTTTCATCTCCTTGCAAATT 0.373000 67 74 2.165e-29 2.52583e-29 0.870114 1 0 SLC35D3 340146 broad.mit.edu 37 6 137245387 137245387 + Silent SNP G G T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr6:137245387G>T ENST00000331858.4 + 2 969 c.804G>T c.(802-804)acG>acT p.T268T NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 268 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CCACCATCACGGTGGGCATGG 0.592000 21 3 1.01871e-10 1.1048e-10 0.575678 1 0 GPR110 266977 broad.mit.edu 37 6 46996743 46996743 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr6:46996743C>T ENST00000371253.2 - 2 270 c.55G>A c.(55-57)Ggt>Agt p.G19S GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.G19S NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 19 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 AGGAAGCCACCGTGGCCGTCA 0.512000 18 24 0 0 0.608945 0 0 TRIML1 339976 broad.mit.edu 37 4 189068521 189068521 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr4:189068521G>A ENST00000332517.3 + 6 1542 c.1402G>A c.(1402-1404)Gtc>Atc p.V468I TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 468 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GAACAGCCACGTCTGAGGGGC 0.542000 21 29 0 0 0.740014 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252495 145252495 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr5:145252495C>T ENST00000377976.1 - 1 36 c.37G>A c.(37-39)Gat>Aat p.D13N NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 13 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GGTTTGCCATCACTCTTCTGA 0.507000 46 74 0 0 0.870114 0 0 LINGO4 339398 broad.mit.edu 37 1 151774674 151774674 + Silent SNP T T C TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr1:151774674T>C ENST00000368820.3 - 2 1444 c.507A>G c.(505-507)gtA>gtG p.V169V NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 169 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GAGCCACAAATACCAGGTGGT 0.607000 3 70 0 0 0.115264 0 0 AACSP1 0 broad.mit.edu 37 5 178194152 178194152 + RNA SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr5:178194152G>A ENST00000503486.2 - 0 1485 NR_024035.1 GGACTCCTGCGCCAGGCCATT 0.597000 4 3 0 0 0.150653 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922344 43922344 + Silent SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr17:43922344C>T ENST00000329196.5 + 1 89 c.72C>T c.(70-72)taC>taT p.Y24Y MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 24 integral to membrane aspartic-type endopeptidase activity p.Y24Y(1) GGGGAAAGTACGGCGTGGCCC 0.622000 20 23 0 0 0.575678 0 0 ASB1 51665 broad.mit.edu 37 2 239344637 239344637 + Silent SNP C C A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr2:239344637C>A ENST00000264607.4 + 3 724 c.477C>A c.(475-477)atC>atA p.I159I ASB1_ENST00000409297.1_Intron NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 159 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) GGGCAGACATCCTGAAGGCCC 0.567000 6 8 0.0293803 0.0301638 0.248553 1 0 SGCD 6444 broad.mit.edu 37 5 155771587 155771587 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr5:155771587G>A ENST00000435422.3 + 2 576 c.89G>A c.(88-90)cGg>cAg p.R30Q SGCD_ENST00000517913.1_Missense_Mutation_p.R31Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R31Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R31Q NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 30 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TATGGCTGGCGGAAACGATGC 0.483000 37 39 0 0 0.796494 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420969 105420969 + Silent SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr14:105420969C>T ENST00000333244.5 - 7 938 c.819G>A c.(817-819)ccG>ccA p.P273P NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 273 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTGGGGTCCCGGCCCCCGCT 0.592000 9 9 0 0 0.307466 0 0 RNF150 57484 broad.mit.edu 37 4 141888953 141888953 + Missense_Mutation SNP T T C TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr4:141888953T>C ENST00000306799.3 - 2 1212 c.559A>G c.(559-561)Atc>Gtc p.I187V RNF150_ENST00000420921.2_Missense_Mutation_p.I46V|RNF150_ENST00000507500.1_Missense_Mutation_p.I187V|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Missense_Mutation_p.I46V|RNF150_ENST00000515673.1_Missense_Mutation_p.I187V NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 187 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) GTCACGGTGATGTTTCTTTCC 0.488000 27 126 0 0 0.717897 0 0 HCN1 348980 broad.mit.edu 37 5 45267295 45267295 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr5:45267295C>T ENST00000303230.4 - 7 1736 c.1679G>A c.(1678-1680)cGt>cAt p.R560H NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 560 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGAGTAAAGACGACAATATGT 0.433000 43 76 0 0 0.859065 0 0 OPN5 221391 broad.mit.edu 37 6 47754301 47754301 + Nonsense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr6:47754301C>T ENST00000489301.2 + 2 266 c.181C>T c.(181-183)Cga>Tga p.R61* OPN5_ENST00000393699.2_Nonsense_Mutation_p.R61*|OPN5_ENST00000371211.2_Nonsense_Mutation_p.R61* Q6U736 OPN5_HUMAN opsin 5 61 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 GTCTTCTAGACGAAAGAAGAA 0.378000 39 32 0 0 0.834066 0 0 TPO 7173 broad.mit.edu 37 2 1459909 1459909 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr2:1459909G>A ENST00000345913.4 + 7 765 c.674G>A c.(673-675)cGc>cAc p.R225H TPO_ENST00000349624.3_Missense_Mutation_p.R225H|TPO_ENST00000337415.3_Missense_Mutation_p.R225H|TPO_ENST00000329066.4_Missense_Mutation_p.R225H|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.R225H|TPO_ENST00000382198.1_Missense_Mutation_p.R225H|TPO_ENST00000382201.3_Missense_Mutation_p.R225H NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 225 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GATGATGACCGCTATTCTGAC 0.537000 22 22 0 0 0.654019 0 0 TYRP1 7306 broad.mit.edu 37 9 12708029 12708029 + Missense_Mutation SNP A A G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr9:12708029A>G ENST00000388918.5 + 7 1423 c.1294A>G c.(1294-1296)Att>Gtt p.I432V TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Missense_Mutation_p.I141V|TYRP1_ENST00000381136.2_Missense_Mutation_p.I142V NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 432 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) AAATGCCCCTATTGGACATAA 0.348000 Oculocutaneous Albinism 13 1 0 0 0.500413 0 0 HBE1 3046 broad.mit.edu 37 11 5291062 5291062 + Missense_Mutation SNP T T C TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr11:5291062T>C ENST00000380237.1 - 3 403 c.59A>G c.(58-60)aAt>aGt p.N20S HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.N20S|HBG2_ENST00000380259.2_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 20 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTTCCACATTCATCTTGCT 0.507000 16 21 0 0 0.557998 0 0 HSPB3 8988 broad.mit.edu 37 5 53751847 53751847 + Silent SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr5:53751847C>T ENST00000302005.1 + 1 403 c.228C>T c.(226-228)gaC>gaT p.D76D NM_006308.2 NP_006299.1 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 76 cell death|response to heat|response to unfolded protein cytoplasm|nucleus breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) TCCTGCTGGACGTGGTCCAGT 0.547000 22 40 0 0 0.624587 0 0 ITGA4 3676 broad.mit.edu 37 2 182396426 182396426 + Missense_Mutation SNP A A G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr2:182396426A>G ENST00000397033.2 + 25 3137 c.2707A>G c.(2707-2709)Aat>Gat p.N903D NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 903 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TTTCTTGTGTAATTTTGGGAA 0.323000 32 48 0 0 0.769981 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594706 61594706 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr20:61594706G>A ENST00000370349.3 + 7 896 c.692G>A c.(691-693)cGg>cAg p.R231Q SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R237Q Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 237 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 CGGCTCTTCCGGAAGCCTGCT 0.657000 6 11 0 0 0.217242 0 0 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Splice_Site SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr3:178917478G>A ENST00000263967.3 + 3 510 c.352_splice c.e3-1 p.G118_splice NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 118 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(26) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTATTAAAGGTTTTGCTATC 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 23 61 0 0 0.624587 0 0 ALPPL2 251 broad.mit.edu 37 2 233273520 233273520 + Missense_Mutation SNP C C A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr2:233273520C>A ENST00000295453.3 + 8 1015 c.963C>A c.(961-963)aaC>aaA p.N321K NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 321 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) TGAGCAGGAACCCCCGCGGCT 0.642000 6 1 0.0381472 0.0386492 0.278610 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 88 0 0 0.115264 0 0 ZNF484 83744 broad.mit.edu 37 9 95610417 95610417 + Missense_Mutation SNP T T C TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr9:95610417T>C ENST00000395505.2 - 3 636 c.544A>G c.(544-546)Aca>Gca p.T182A ZNF484_ENST00000332591.6_Missense_Mutation_p.T182A|ZNF484_ENST00000395506.3_Missense_Mutation_p.T220A|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.T218A NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 GTCACTTCTGTATGAGAATTC 0.353000 28 84 0 0 0.706142 0 0 FGD5 152273 broad.mit.edu 37 3 14862336 14862336 + Silent SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr3:14862336G>A ENST00000285046.5 + 1 1868 c.1758G>A c.(1756-1758)tcG>tcA p.S586S FGD5_ENST00000543601.1_Silent_p.S345S NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 586 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCTCTCTGTCGTGTGTAATTG 0.557000 17 24 0 0 0.539581 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967984 161967984 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr1:161967984C>T ENST00000294794.3 - 6 1528 c.1105G>A c.(1105-1107)Gca>Aca p.A369T OLFML2B_ENST00000367940.2_Missense_Mutation_p.A370T NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 369 p.A369T(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GACCAGGGTGCGGTCCGAGCG 0.627000 66 98 0 0 0.870114 0 0 SP7 121340 broad.mit.edu 37 12 53722415 53722415 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr12:53722415C>T ENST00000536324.2 - 3 1094 c.811G>A c.(811-813)Gac>Aac p.D271N SP7_ENST00000303846.3_Missense_Mutation_p.D271N|SP7_ENST00000537210.2_Missense_Mutation_p.D253N NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 TTAGGGCAGTCGCAGGAGGAG 0.662000 13 13 0 0 0.435327 0 0 LPPR1 0 broad.mit.edu 37 9 104086328 104086328 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr9:104086328G>A ENST00000374874.3 + 8 1406 c.967G>A c.(967-969)Gaa>Aaa p.E323K LPPR1_ENST00000395056.2_Missense_Mutation_p.E323K NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 323 integral to membrane catalytic activity GTCCATGACCGAAGTTACCTG 0.418000 15 24 0 0 0.500413 0 0 FAM153B 202134 broad.mit.edu 37 5 175526032 175526032 + Silent SNP A A G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr5:175526032A>G ENST00000253490.4 + 10 603 c.546A>G c.(544-546)acA>acG p.T182T FAM153B_ENST00000510151.1_Silent_p.T105T|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Silent_p.T105T P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 182 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) AGGCAGACACAGGCATCCAAA 0.438000 3 117 0 0 0.150653 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870194 151870194 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chrX:151870194G>A ENST00000329342.5 + 3 1109 c.884G>A c.(883-885)gGa>gAa p.G295E NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 295 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AAGATCAGTGGAGGACCTCGC 0.567000 72 99 0 0 0.870114 0 0 PDZD3 79849 broad.mit.edu 37 11 119059739 119059739 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr11:119059739G>A ENST00000531114.1 + 8 2060 c.1511G>A c.(1510-1512)cGg>cAg p.R504Q PDZD3_ENST00000355547.5_Missense_Mutation_p.R438Q|PDZD3_ENST00000392817.2_Missense_Mutation_p.R504Q|PDZD3_ENST00000525131.1_Missense_Mutation_p.R425Q|PDZD3_ENST00000322712.4_Missense_Mutation_p.R424Q Q86UT5 NHRF4_HUMAN PDZ domain containing 3 504 PDZ 4. cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) TCAGCTGCCCGGGCTGGGCTG 0.607000 43 57 0 0 0.870114 0 0 MND1 84057 broad.mit.edu 37 4 154335914 154335914 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr4:154335914G>A ENST00000240488.3 + 8 612 c.523G>A c.(523-525)Gca>Aca p.A175T NM_001253861.1|NM_032117.3 NP_001240790.1|NP_115493.1 Q9BWT6 MND1_HUMAN meiotic nuclear divisions 1 homolog (S. cerevisiae) 175 DNA recombination|meiosis nucleus DNA binding large_intestine(2)|lung(1) 3 all_hematologic(180;0.093) TAACATATTCGCAATAAAATC 0.249000 14 24 0 0 0.457914 0 0 TBP 6908 broad.mit.edu 37 6 170871088 170871088 + Silent SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr6:170871088G>A ENST00000392092.2 + 3 543 c.264G>A c.(262-264)caG>caA p.Q88Q TBP_ENST00000540980.1_Silent_p.Q68Q|TBP_ENST00000230354.6_Silent_p.Q88Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 88 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q88Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 3 7 0 0 0.150653 0 0 HEG1 57493 broad.mit.edu 37 3 124692589 124692589 + Missense_Mutation SNP C C A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr3:124692589C>A ENST00000311127.4 - 16 4049 c.3982G>T c.(3982-3984)Gat>Tat p.D1328Y NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1328 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TAGTACACATCCGTCATCTGG 0.463000 14 26 0.00316338 0.00329162 0.479597 1 0 KRT39 390792 broad.mit.edu 37 17 39122910 39122910 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr17:39122910G>A ENST00000355612.2 - 1 234 c.199C>T c.(199-201)Cgc>Tgc p.R67C AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 67 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) ATGGGCTTGCGACAAAAGCGA 0.517000 81 111 0 0 0.870114 0 0 KLK6 5653 broad.mit.edu 37 19 51466622 51466622 + Silent SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr19:51466622C>T ENST00000376851.3 - 4 820 c.381G>A c.(379-381)ctG>ctA p.L127L KLK6_ENST00000594641.1_Silent_p.L127L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Silent_p.L127L|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Silent_p.L20L|KLK6_ENST00000391808.1_Silent_p.L20L NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 127 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) AGTCCCTCTCCAGGGGAAGGG 0.617000 10 19 0 0 0.361761 0 0 MROH1 727957 broad.mit.edu 37 8 145267957 145267957 + Missense_Mutation SNP A A G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr8:145267957A>G ENST00000423230.2 + 12 1299 c.1202A>G c.(1201-1203)gAg>gGg p.E401G MROH1_ENST00000527071.1_Intron|MROH1_ENST00000326134.5_Intron|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000528919.1_Intron NM_001099280.1|NM_001099281.1 NP_001092750.1|NP_001092751.1 maestro heat-like repeat family member 1 CTGAAACATGAGGACTGCCCT 0.532000 3 87 0 0 0.115264 0 0 DOCK5 80005 broad.mit.edu 37 8 25216578 25216578 + Splice_Site SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr8:25216578G>A ENST00000276440.7 + 28 2993 c.e28+1 NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGACATCATCGTAAGTTGCCT 0.458000 56 68 0 0 0.870114 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 3 6 0 0 0.150653 0 0 TSPAN18 90139 broad.mit.edu 37 11 44948236 44948236 + Silent SNP G G C rs149091051 byFrequency TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr11:44948236G>C ENST00000340160.3 + 8 866 c.627G>C c.(625-627)acG>acC p.T209T TSPAN18_ENST00000520358.2_Silent_p.T209T NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 209 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 GCTGTTACACGGTGATCCTCA 0.587000 OREG0020922 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 95 0 0 0.870114 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5237184 5237184 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr5:5237184G>A ENST00000274181.7 + 14 2264 c.2126G>A c.(2125-2127)cGt>cAt p.R709H ADAMTS16_ENST00000513709.1_Intron NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 709 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GAGGATAGCCGTAATGTTTGT 0.403000 42 52 0 0 0.834066 0 0 TPTE 7179 broad.mit.edu 37 21 10920147 10920147 + Missense_Mutation SNP A A T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr21:10920147A>T ENST00000298232.7 - 18 1420 c.1053T>A c.(1051-1053)ttT>ttA p.F351L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F331L|TPTE_ENST00000361285.4_Missense_Mutation_p.F369L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 369 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCCTTTCTCCAAAATAATACA 0.383000 18 95 0 0 0.639603 0 0 PLP1 5354 broad.mit.edu 37 X 103043374 103043374 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chrX:103043374C>T ENST00000418604.1 + 6 911 c.631C>T c.(631-633)Cca>Tca p.P211S PLP1_ENST00000361621.2_Missense_Mutation_p.P176S|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Missense_Mutation_p.P211S NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 211 P -> L (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 AGGTGTTCTCCCATGGAATGC 0.478000 134 186 0 0 0.870114 0 0 MYOM3 127294 broad.mit.edu 37 1 24387556 24387556 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr1:24387556C>T ENST00000330966.7 - 35 4159 c.3997G>A c.(3997-3999)Gag>Aag p.E1333K MYOM3_ENST00000338909.5_Missense_Mutation_p.E223K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1330K|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1330 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TTACTCTTCTCGATGATGGCC 0.488000 14 36 0 0 0.479597 0 0 ABCB1 5243 broad.mit.edu 37 7 87178715 87178715 + Silent SNP C C T rs56871767 TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr7:87178715C>T ENST00000265724.3 - 15 2091 c.1674G>A c.(1672-1674)acG>acA p.T558T ABCB1_ENST00000543898.1_Silent_p.T494T NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 558 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCAAGGCTGACGTGGCCTCAT 0.537000 27 50 0 0 0.706142 0 0 RIMS2 9699 broad.mit.edu 37 8 104898359 104898359 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr8:104898359C>T ENST00000507740.1 + 2 1192 c.956C>T c.(955-957)tCg>tTg p.S319L RIMS2_ENST00000436393.2_Missense_Mutation_p.S289L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S511L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S319L NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 542 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.S289L(1)|p.S547L(1)|p.S319L(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CGCCAGATTTCGTTGAGCAGT 0.428000 HNSCC(12;0.0054) 25 35 0 0 0.667858 0 0 RIBC2 26150 broad.mit.edu 37 22 45821982 45821982 + Missense_Mutation SNP G G A rs149130910 byFrequency TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr22:45821982G>A ENST00000342894.3 + 5 1025 c.611G>A c.(610-612)cGc>cAc p.R204H RIBC2_ENST00000538017.1_Missense_Mutation_p.R272H|RIBC2_ENST00000466226.1_3'UTR Q9H4K1 RIBC2_HUMAN RIB43A domain with coiled-coils 2 204 NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1) 10 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GTCCCTGACCGCTGGAAGGGC 0.642000 6 12 0 0 0.217242 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245388 137245388 + Missense_Mutation SNP G G T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr6:137245388G>T ENST00000331858.4 + 2 970 c.805G>T c.(805-807)Gtg>Ttg p.V269L NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 269 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CACCATCACGGTGGGCATGGT 0.592000 21 3 1.01871e-10 1.1048e-10 0.575678 1 0 PSMC4 5704 broad.mit.edu 37 19 40480518 40480518 + Missense_Mutation SNP C C T TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr19:40480518C>T ENST00000157812.2 + 5 755 c.557C>T c.(556-558)aCg>aTg p.T186M PSMC4_ENST00000455878.2_Missense_Mutation_p.T155M NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 186 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTCCCGCTCACGCATTTCGAG 0.627000 6 45 0 0 0.278610 0 0 OTUD3 23252 broad.mit.edu 37 1 20216922 20216923 + Frame_Shift_Ins INS - - A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr1:20216922_20216923insA ENST00000375120.3 + 2 267_268 c.266_267insA c.(265-267)tcgfs p.S89fs NM_015207.1 NP_056022.1 Q5T2D3 OTUD3_HUMAN OTU domain containing 3 89 OTU. breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GAGGGACACTCACGAAATCATC 0.416 86 48 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 4 7 --- --- --- --- HSPD1 3329 broad.mit.edu 37 2 198353171 198353174 + Frame_Shift_Del DEL TCTG TCTG - TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr2:198353171_198353174delTCTG ENST00000388968.3 - 10 1524_1527 c.1257_1260delCAGA c.(1255-1260)gafs p.DR419fs HSPD1_ENST00000345042.2_Frame_Shift_Del_p.DR419fs NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 419 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) CATCTGTAACTCTGTCTTTCTTTT 0.441 57 87 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569563 77569564 + Frame_Shift_Del DEL TC TC - TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr7:77569563_77569564delTC ENST00000416283.2 + 12 1708_1709 c.1582_1583delTC c.(1582-1584)tfs p.S528fs PHTF2_ENST00000248550.7_Frame_Shift_Del_p.S562fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.S528fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.S524fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GGTTCGCGTGTCTCTTGTGTGG 0.342 47 170 --- --- --- --- OR5D14 219436 broad.mit.edu 37 11 55563460 55563461 + Frame_Shift_Ins INS - - G TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chr11:55563460_55563461insG ENST00000335605.1 + 1 429_430 c.429_430insG c.(427-432)tgccctfs p.C143fs NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) AGAGGCTCTGTGCCCTGCTGGT 0.510 48 55 --- --- --- --- SCML2 10389 broad.mit.edu 37 X 18259468 18259469 + Frame_Shift_Del DEL TT TT - TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c810082c-26de-4168-84e7-512a6a9aea65 1057ab5b-17d9-439b-8c97-c7a81ffc89c5 g.chrX:18259468_18259469delTT ENST00000251900.4 - 15 2164_2165 c.2005_2006delAA c.(2005-2007)gfs p.K669fs SCML2_ENST00000398048.3_3'UTR NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 669 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CACATCACTCTTGAGTAGGAAC 0.342 79 116 --- --- --- ---