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 PADI6 353238 broad.mit.edu 37 1 17708559 17708559 + Silent SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:17708559G>A uc001bak.1 + 5 651 c.651G>A c.(649-651)tcG>tcA p.S217S NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA. 209 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAAGAGTCGAAGAAGGCGA 0.522 HP1BP3 50809 broad.mit.edu 37 1 21071371 21071371 + Silent SNP A A G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:21071371A>G uc001bdy.1 - 11 1681 c.1581T>C c.(1579-1581)ccT>ccC p.P527P HP1BP3_uc001bdv.1_Silent_p.P489P|HP1BP3_uc001bdw.1_Silent_p.P527P|HP1BP3_uc010odh.1_Silent_p.P489P|HP1BP3_uc010odf.1_Silent_p.P186P|HP1BP3_uc010odg.1_Silent_p.P375P NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA. 527 Lys-rich. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) CACTGGTTGCAGGCTTCTTTG 0.458 TINAGL1 64129 broad.mit.edu 37 1 32050587 32050587 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:32050587C>T uc001bta.3 + 6 933 c.807C>T c.(805-807)ggC>ggT p.G269G TINAGL1_uc010ogj.2_Silent_p.G238G|TINAGL1_uc010ogk.1_Silent_p.G269G|TINAGL1_uc021oko.1_Silent_p.G164G NM_022164 NP_001191344 Q9GZM7 TINAL_HUMAN Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA. 269 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) AGCAGCAGGGCTGCCGCGGTG 0.627 WDR78 79819 broad.mit.edu 37 1 67301382 67301382 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:67301382C>T uc001dcx.3 - 10 1716 c.1660G>A c.(1660-1662)Gtt>Att p.V554I WDR78_uc009waw.3_Missense_Mutation_p.V300I|WDR78_uc009wax.3_Intron NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA. 554 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TGATAGCCAACGGCTAAAAGG 0.363 BARHL2 343472 broad.mit.edu 37 1 91182597 91182597 + Silent SNP A A G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:91182597A>G uc001dns.3 - 0 198 c.156T>C c.(154-156)tgT>tgC p.C52C NM_020063 NP_064447 Q9NY43 BARH2_HUMAN Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA. 52 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CAATCTCCGAACAGGGAGATG 0.607 HSD3B1 3283 broad.mit.edu 37 1 120056674 120056674 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:120056674C>T uc001ehv.1 + 3 673 c.528C>T c.(526-528)aaC>aaT p.N176N NM_000862 NP_000853 P14060 3BHS1_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA. 176 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) ATCTGAAAAACGGCGGCACCC 0.507 PDE4DIP 9659 broad.mit.edu 37 1 144859794 144859794 + Missense_Mutation SNP C C G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:144859794C>G uc021ouh.1 - 37 6592 c.6290G>C c.(6289-6291)aGc>aCc p.S2097T NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S2097T|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1991T|PDE4DIP_uc001elv.4_Missense_Mutation_p.S1104T NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 2097 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGGGTCAGTGCTGGCTGGGAA 0.577 T PDGFRB MPD PDE4DIP 9659 broad.mit.edu 37 1 144859988 144859988 + Silent SNP C C G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:144859988C>G uc021ouh.1 - 37 6398 c.6096G>C c.(6094-6096)ctG>ctC p.L2032L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L2032L|PDE4DIP_uc001elx.4_Silent_p.L1926L|PDE4DIP_uc001elv.4_Silent_p.L1039L NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 2032 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GACAGGCATCCAGGCTGTAAG 0.527 T PDGFRB MPD ADAMTSL4 54507 broad.mit.edu 37 1 150530495 150530495 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:150530495G>A uc009wlw.3 + 13 2479 c.2321G>A c.(2320-2322)cGg>cAg p.R774Q ADAMTSL4_uc001euw.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc001eux.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.R712Q|ADAMTSL4_uc009wlx.3_5'UTR NM_019032 NP_061905 Q6UY14 ATL4_HUMAN Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA. 751 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTGCAGTGCCGGCAGGAATTT 0.706 FCGR3A 2214 broad.mit.edu 37 1 161518335 161518335 + Silent SNP G G A rs145248243 TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:161518335G>A uc001gar.3 - 2 487 c.303C>T c.(301-303)agC>agT p.S101S FCGR3A_uc001gas.3_Silent_p.S100S|FCGR3A_uc001gat.4_Silent_p.S65S|FCGR3A_uc009wuh.3_Silent_p.S64S|FCGR3A_uc009wui.3_Silent_p.S65S NM_000569 NP_001121067 P08637 FCG3A_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA. 65 Ig-like C2-type 1. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTGAGATGAGGCTCTCATTGT 0.552 GORAB 92344 broad.mit.edu 37 1 170521169 170521169 + Missense_Mutation SNP A A G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:170521169A>G uc001gha.2 + 4 778 c.751A>G c.(751-753)Agg>Ggg p.R251G GORAB_uc009wvx.2_Missense_Mutation_p.R71G|GORAB_uc001ghb.2_Missense_Mutation_p.R71G|GORAB_uc001ghc.2_Missense_Mutation_p.R71G|GORAB_uc001ghd.2_Missense_Mutation_p.R44G NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA. 251 Necessary for interaction with RCHY1. Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 GCGGTTTGACAGGGCTGAAGC 0.398 PAPPA2 60676 broad.mit.edu 37 1 176563936 176563936 + Missense_Mutation SNP T T C TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:176563936T>C uc001gkz.3 + 2 2360 c.1196T>C c.(1195-1197)tTc>tCc p.F399S PAPPA2_uc001gky.1_Missense_Mutation_p.F399S|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 399 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AACAGCCCCTTCATGGCATCT 0.592 ANGPTL1 9068 broad.mit.edu 37 1 178822880 178822880 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:178822880G>A uc001gma.3 - 3 1342 c.866C>T c.(865-867)tCg>tTg p.S289L RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S289L|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S211L NM_004673 NP_004664 O95841 ANGL1_HUMAN Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA. 289 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 CCCACTGACCGAATGCCCAGC 0.373 KIAA1614 57710 broad.mit.edu 37 1 180914469 180914469 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:180914469C>T uc001gok.2 + 8 3385 c.3318C>T c.(3316-3318)ctC>ctT p.L1106L KIAA1614_uc001gol.1_Silent_p.L727L|KIAA1614_uc001gom.1_Silent_p.L197L|STX6_uc009wxo.1_Non-coding_Transcript NM_020950 NP_066001 Q5VZ46 K1614_HUMAN Homo sapiens KIAA1614 (KIAA1614), mRNA. 1106 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GGCGTGCCCTCAGTGTGGAGG 0.662 LAMB3 3914 broad.mit.edu 37 1 209796522 209796522 + Silent SNP G G T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:209796522G>T uc001hhg.3 - 15 2751 c.2361C>A c.(2359-2361)ctC>ctA p.L787L LAMB3_uc009xco.3_Silent_p.L787L|LAMB3_uc001hhh.3_Silent_p.L787L|LAMB3_uc010psl.1_Non-coding_Transcript NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 787 Domain alpha. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGTTGCCACAGAGCTGTGGAC 0.572 TRIM58 25893 broad.mit.edu 37 1 248039229 248039229 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr1:248039229C>T uc001ido.3 + 5 947 c.899C>T c.(898-900)gCg>gTg p.A300V OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 300 B30.2/SPRY. intracellular zinc ion binding p.T299T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCGCCACGGCGCACCCGAGT 0.552 PTEN 5728 broad.mit.edu 37 10 89692893 89692893 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr10:89692893C>T uc001kfb.3 + 4 1409 c.377C>T c.(376-378)gCt>gTt p.A126V PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 126 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.A126D(6)|p.A126T(6)|p.?(5)|p.R55fs*1(5)|p.A126V(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.K125N(2)|p.A126S(2)|p.A126P(2)|p.K125E(2)|p.Y27_N212>Y(2)|p.A126fs*8(1)|p.K125*(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CACTGTAAAGCTGGAAAGGGA 0.408 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) DUX4L3 653544 broad.mit.edu 37 10 135491165 135491165 + Missense_Mutation SNP C C T rs148925759 by1000genomes TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr10:135491165C>T uc021qbj.1 + DUX4L3_uc010qvh.1_Missense_Mutation_p.A259V|DUX4L3_uc021qbi.1_5'UTR NM_012147 NP_036279 F5GZ66 F5GZ66_HUMAN Homo sapiens double homeobox 2 (DUX2), mRNA. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity GTGCCCTGCGCGCCTGGGGCT 0.771 PDE3B 5140 broad.mit.edu 37 11 14839801 14839801 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr11:14839801G>A uc001mln.3 + 5 1948 c.1595G>A c.(1594-1596)cGa>cAa p.R532Q PDE3B_uc010rcr.2_Missense_Mutation_p.R481Q NM_000922 NP_000913 Q13370 PDE3B_HUMAN Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA. 532 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding p.R532Q(2) NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTAACTAATCGATCACCCATA 0.388 OR5T3 390154 broad.mit.edu 37 11 56020021 56020021 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr11:56020021C>T uc010rjd.2 + 0 346 c.346C>T c.(346-348)Ctg>Ttg p.L116L NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F115F(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GGTCAATTTCCTGGCAAAAAA 0.368 SHANK2 22941 broad.mit.edu 37 11 70319235 70319235 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr11:70319235C>T uc001oqc.3 - 21 5203 c.5091G>A c.(5089-5091)tcG>tcA p.S1697S SHANK2_uc010rqn.2_Silent_p.S1173S|SHANK2_uc001opz.3_Silent_p.S1168S|BC127192_uc009ysn.1_Silent_p.G45G|SHANK2_uc001opy.3_Silent_p.S99S|SHANK2_uc021qmr.1_Non-coding_Transcript NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 1384 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGGGGGATGGCGACCTACTGC 0.537 KRTAP5-10 387273 broad.mit.edu 37 11 71276821 71276910 + In_Frame_Del DEL GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG - rs71473841 by1000genomes TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr11:71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG uc001oqt.1 + 0 213_302 c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG c.(187-279)agctgtggctcctgtgggggctccaagggggactgtggctcttgtgggggctccaaagggggctgtggttcctgtgggggctccaaggggggc>agc p.CGSCGGSKGDCGSCGGSKGGCGSCGGSKGG64del NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA. 64 7 X 4 AA repeats of C-C-X-P. keratin filament p.G69C(2)|p.K81K(2)|p.G65S(2) endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 TCCTGCTCCAGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGGGCTGTGGCTC 0.676 SLCO2B1 11309 broad.mit.edu 37 11 74876887 74876887 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr11:74876887G>A uc001owb.3 + 3 736 c.341G>A c.(340-342)cGa>cAa p.R114Q SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_5'UTR|SLCO2B1_uc001owc.3_5'UTR|SLCO2B1_uc001owd.3_Missense_Mutation_p.R92Q NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 114 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CGGGTGCACCGACCCCGAATG 0.572 DRD2 1813 broad.mit.edu 37 11 113286210 113286210 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr11:113286210C>T uc001pnz.3 - 3 977 c.656G>A c.(655-657)cGc>cAc p.R219H DRD2_uc010rwv.2_Missense_Mutation_p.R218H|DRD2_uc001poa.4_Missense_Mutation_p.R219H|DRD2_uc001pob.4_Missense_Mutation_p.R219H|DRD2_uc009yyr.1_Missense_Mutation_p.R219H NM_000795 NP_000786 P14416 DRD2_HUMAN Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. 219 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.R219C(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) TCGCTTGCGGCGTCTGCGGAG 0.572 GDF3 9573 broad.mit.edu 37 12 7842975 7842975 + Silent SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr12:7842975G>A uc001qte.3 - 1 630 c.594C>T c.(592-594)ttC>ttT p.F198F NM_020634 NP_065685 Q9NR23 GDF3_HUMAN Homo sapiens growth differentiation factor 3 (GDF3), mRNA. 198 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGAATAACCCGAAATTTTTCC 0.473 ERP27 121506 broad.mit.edu 37 12 15070213 15070213 + Missense_Mutation SNP C C T rs139573344 byFrequency TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr12:15070213C>T uc001rco.3 - 4 496 c.475G>A c.(475-477)Gta>Ata p.V159I NM_152321 NP_689534 Q96DN0 ERP27_HUMAN Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA. 159 endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 ATCTGAATTACGCTGTTGAAT 0.453 CPSF6 11052 broad.mit.edu 37 12 69645041 69645041 + Missense_Mutation SNP G G C TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr12:69645041G>C uc001sut.4 + 1 303 c.193G>C c.(193-195)Ggt>Cgt p.G65R CPSF6_uc001suu.4_Missense_Mutation_p.G65R NM_007007 NP_008938 Q16630 CPSF6_HUMAN Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA. 65 mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) TGATGATGTGGGTAAAGGAGC 0.378 KIAA1033 23325 broad.mit.edu 37 12 105514968 105514968 + Missense_Mutation SNP G G T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr12:105514968G>T uc010swr.2 + 8 738 c.651G>T c.(649-651)tgG>tgT p.W217C KIAA1033_uc001tld.3_Missense_Mutation_p.W217C|KIAA1033_uc010sws.2_Missense_Mutation_p.W29C NM_015275 NP_056090 Q2M389 WAHS7_HUMAN Homo sapiens KIAA1033 (KIAA1033), mRNA. 217 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 AAGACCACTGGACTATGTACA 0.299 WSCD2 9671 broad.mit.edu 37 12 108603905 108603905 + Missense_Mutation SNP C C A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr12:108603905C>A uc001tms.3 + 3 1249 c.505C>A c.(505-507)Ctg>Atg p.L169M WSCD2_uc001tmt.3_Missense_Mutation_p.L169M NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 169 WSC 1. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CAGGGGTTACCTGTATGGCGG 0.647 TMEM132D 121256 broad.mit.edu 37 12 129563144 129563144 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr12:129563144G>A uc009zyl.1 - 7 2378 c.2050C>T c.(2050-2052)Cca>Tca p.P684S TMEM132D_uc001uia.2_Missense_Mutation_p.P222S NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 684 integral to membrane p.P684A(2) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTGCTTCCTGGGCTGAGCTGC 0.577 ANKLE2 23141 broad.mit.edu 37 12 133306704 133306704 + Missense_Mutation SNP C C G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr12:133306704C>G uc001ukx.2 - 10 2111 c.2044G>C c.(2044-2046)Gag>Cag p.E682Q ANKLE2_uc009zyw.1_Missense_Mutation_p.E37Q NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA. 682 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) AGGTCTGCCTCCTGCTCCAAG 0.572 SLC39A2 29986 broad.mit.edu 37 14 21469493 21469493 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr14:21469493C>T uc001vyr.3 + 3 877 c.685C>T c.(685-687)Cta>Tta p.L229L SLC39A2_uc001vys.3_Silent_p.L130L NM_014579 NP_055394 Q9NP94 S39A2_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA. 229 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) GTTCTCCATACTATTATTAGC 0.567 C15orf2 23742 broad.mit.edu 37 15 24921103 24921103 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr15:24921103G>A uc001ywo.3 + 0 563 c.89G>A c.(88-90)cGg>cAg p.R30Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 30 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCCCTGTCCCGGGACGCCTCC 0.706 CHRNB4 1143 broad.mit.edu 37 15 78917630 78917630 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr15:78917630C>T uc002bed.1 - 5 1454 c.1342G>A c.(1342-1344)Gtt>Att p.V448I CHRNB4_uc002bee.1_Silent_p.S121S|AX748237_uc002bef.1_5'Flank NM_000750 NP_000741 P30926 ACHB4_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA. 448 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CAGTCCTCAACGACCTGCAGG 0.607 CHRNB4 1143 broad.mit.edu 37 15 78922161 78922161 + Silent SNP G G A rs80249872 TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr15:78922161G>A uc002bed.1 - 4 598 c.486C>T c.(484-486)ttC>ttT p.F162F CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA. 162 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TCTGCTGGTCGAAGGGAAAGT 0.552 SEPT12 124404 broad.mit.edu 37 16 4833669 4833669 + Missense_Mutation SNP C C T rs140969211 TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr16:4833669C>T uc002cxq.3 - 5 875 c.611G>A c.(610-612)cGa>cAa p.R204Q SEPT12_uc002cxr.3_Missense_Mutation_p.R158Q|SEPT12_uc010bty.3_Non-coding_Transcript NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA. 204 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 GAAGGCCTCTCGCTCCTCCAT 0.677 ITGAD 3681 broad.mit.edu 37 16 31435264 31435264 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr16:31435264C>T uc010cap.1 + 26 3196 c.3147C>T c.(3145-3147)ttC>ttT p.F1049F ITGAD_uc002ebv.1_Silent_p.F1048F NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 1048 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATCTCAGTTTCGGCTGGGTCC 0.642 C16orf78 123970 broad.mit.edu 37 16 49407930 49407930 + Missense_Mutation SNP G G A rs144505396 byFrequency TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr16:49407930G>A uc002efr.3 + 0 123 c.80G>A c.(79-81)cGc>cAc p.R27H NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA. 27 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 GAAGATAGGCGCATGTCTGAC 0.512 UBC 7316 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr17:21731144T>G uc002gyy.3 + 1 571 c.446T>G c.(445-447)cTg>cGg p.L149R P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 301 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 p.L149R(18)|p.R148S(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GTCCTGCGTCTGAGAGGTGGT 0.542 NF1 4763 broad.mit.edu 37 17 29588751 29588751 + Nonsense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr17:29588751C>T uc002hgg.3 + 34 4983 c.4600C>T c.(4600-4602)Cga>Tga p.R1534* NF1_uc002hgh.3_Nonsense_Mutation_p.R1513*|NF1_uc002hgi.1_Nonsense_Mutation_p.R546* NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1534 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.R1534*(6)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGTTGGAAGACGACCTTTTGA 0.413 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) KRT25 147183 broad.mit.edu 37 17 38904633 38904633 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr17:38904633C>T uc002hve.3 - 7 1310 c.1249G>A c.(1249-1251)Gcc>Acc p.A417T NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN Homo sapiens keratin 25 (KRT25), mRNA. 417 Tail. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) ATGGCTTTGGCTGGGTCTGAG 0.348 RAD51C 5889 broad.mit.edu 37 17 56809897 56809897 + Missense_Mutation SNP C C G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr17:56809897C>G uc002iwu.3 + 7 1060 c.1018C>G c.(1018-1020)Caa>Gaa p.Q340E RAD51C_uc010woa.1_Missense_Mutation_p.Q340E|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript NM_058216 NP_478123 O43502 RA51C_HUMAN Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA. 340 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity p.Q340K(1) upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGTACTGTTTCAAATCAAAGT 0.338 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 BAHCC1 57597 broad.mit.edu 37 17 79412126 79412126 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr17:79412126C>T uc002kaf.2 + 7 2571 c.2571C>T c.(2569-2571)ctC>ctT p.L857L BAHCC1_uc002kae.2_Silent_p.L118L NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA. 919 Pro-rich. DNA binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1) 26 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CGGGCCAGCTCCCTGTGTACT 0.697 LAMA1 284217 broad.mit.edu 37 18 7011448 7011448 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr18:7011448G>A uc002knm.3 - 24 3632 c.3538C>T c.(3538-3540)Cgt>Tgt p.R1180C LAMA1_uc010wzj.2_Missense_Mutation_p.R656C NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 1180 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAACCACACGCAGAAGAGGC 0.552 MIB1 57534 broad.mit.edu 37 18 19358097 19358097 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr18:19358097G>A uc002ktq.3 + 4 670 c.670G>A c.(670-672)Ggt>Agt p.G224S MIB1_uc002ktp.3_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA. 224 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TGCCAAGGGAGGTTCTTTCTA 0.403 DSG3 1830 broad.mit.edu 37 18 29039054 29039054 + Missense_Mutation SNP C C T rs62095186 TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr18:29039054C>T uc002kws.3 + 4 540 c.431C>T c.(430-432)aCg>aTg p.T144M NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 144 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTTATACTAACGGTTAAAATT 0.358 RPSA 388524 broad.mit.edu 37 19 24010322 24010322 + Missense_Mutation SNP G G A rs13343419 by1000genomes TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr19:24010322G>A uc002nrn.3 + 3 782 c.359G>A c.(358-360)cGg>cAg p.R120Q NM_002295 NP_002286 P08865 RSSA_HUMAN Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA. 120 cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) TGGGAGCCACGGCTTCTTGTG 0.552 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr19:53856702G>A uc010ydv.1 + 3 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_uc010ydw.1_Missense_Mutation_p.R925H NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(6) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363 APOB 338 broad.mit.edu 37 2 21232448 21232448 + Missense_Mutation SNP T T C TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr2:21232448T>C uc002red.3 - 25 7420 c.7292A>G c.(7291-7293)gAt>gGt p.D2431G NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2431 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGGTGGTAATCAAATGACTT 0.343 SLC9A4 389015 broad.mit.edu 37 2 103141556 103141556 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr2:103141556G>A uc002tbz.4 + 9 2349 c.1892G>A c.(1891-1893)cGc>cAc p.R631H NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 631 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CTGATCCGCCGCCAGAACACC 0.507 GCC2 9648 broad.mit.edu 37 2 109087914 109087914 + Frame_Shift_Del DEL T T - TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr2:109087914delT uc002tec.3 + 5 2283 c.2129delT c.(2128-2130)gttfs p.V710fs GCC2_uc002ted.3_Frame_Shift_Del_p.V609fs NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA. 710 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 GATTTGGAGGTTTTTTTGTCT 0.299 COL6A1 1291 broad.mit.edu 37 21 47423347 47423347 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr21:47423347G>A uc002zhu.1 + 34 2609 c.2507G>A c.(2506-2508)gGc>gAc p.G836D COL6A1_uc002zhv.1_Missense_Mutation_p.G167D NM_001848 NP_001839 P12109 CO6A1_HUMAN Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA. 836 C-terminal globular domain.|VWFA 3. DGSAS -> EPPPD (in Ref. 1; CAA33889). axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CTGCTGGACGGCTCCGCCAGC 0.692 SLC5A4 6527 broad.mit.edu 37 22 32628993 32628993 + Missense_Mutation SNP T T G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr22:32628993T>G uc003ami.3 - 8 916 c.914A>C c.(913-915)aAg>aCg p.K305T NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA. 305 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AGACATGTCCTTGCCACACAG 0.557 CYP2D6 1565 broad.mit.edu 37 22 42523567 42523567 + Missense_Mutation SNP T T C rs61736517 TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr22:42523567T>C uc003bce.3 - 6 1145 c.1055A>G c.(1054-1056)cAc>cGc p.H352R LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Missense_Mutation_p.H46R|CYP2D6_uc003bcf.3_Missense_Mutation_p.H301R NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA. 352 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen p.L352L(1) NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTAGGGCATGTGAGCCTGGTC 0.592 MAPK8IP2 23542 broad.mit.edu 37 22 51041769 51041771 + In_Frame_Del DEL GAG GAG - TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr22:51041769_51041771delGAG uc003bmx.3 + 2 406_408 c.289_291delGAG c.(289-291)gagdel p.E103del MAPK8IP2_uc003bmy.3_In_Frame_Del_p.E76del|MAPK8IP2_uc011asc.2_5'Flank NM_012324 NP_036456 Q13387 JIP2_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA. 103 Asp/Glu-rich (acidic). behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding p.E97delE(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ggacgaggaagaggaggaggagg 0.631 ZNF717 100131827 broad.mit.edu 37 3 75790814 75790814 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr3:75790814C>T uc011bgi.2 - 2 454 c.131G>A c.(130-132)aGg>aAg p.R44K ZNF717_uc003dpw.3_Non-coding_Transcript NM_001128223 NP_001121695 C9JSV9 C9JSV9_HUMAN Homo sapiens zinc finger protein 717 (ZNF717), mRNA. 44 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 GTACAGGGTCCTCTGAGCATC 0.522 EEFSEC 60678 broad.mit.edu 37 3 127981028 127981028 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr3:127981028C>T uc003eki.3 + 2 620 c.582C>T c.(580-582)ccC>ccT p.P194P NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 194 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 CAGAGGCCCCCGAAACTGAAG 0.562 INTU 27152 broad.mit.edu 37 4 128564761 128564761 + Missense_Mutation SNP C C G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr4:128564761C>G uc003ifk.2 + 1 335 c.232C>G c.(232-234)Ctc>Gtc p.L78V INTU_uc011cgq.2_Non-coding_Transcript NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA. 78 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AGAAGAAAGCCTCCTTCCTGA 0.393 ELOVL7 79993 broad.mit.edu 37 5 60060144 60060144 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr5:60060144G>A uc003jsi.4 - 6 609 c.409C>T c.(409-411)Cgc>Tgc p.R137C ELOVL7_uc011cqo.2_Missense_Mutation_p.R50C|ELOVL7_uc010iwk.3_Missense_Mutation_p.R137C|ELOVL7_uc003jsj.4_Missense_Mutation_p.R124C NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA. 137 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) TTTTTCTTGCGCAGAACAAAA 0.348 PCDHGC5 56112 broad.mit.edu 37 5 140725076 140725076 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr5:140725076C>T uc003ljm.2 + 0 1476 c.1476C>T c.(1474-1476)acC>acT p.T492T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T492T NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 494 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCATTGACCGAGGACACTC 0.542 PCDHGC5 56109 broad.mit.edu 37 5 140755737 140755737 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr5:140755737C>T uc003ljy.2 + 0 2087 c.2087C>T c.(2086-2088)gCg>gTg p.A696V PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.A696V NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 697 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.I695N(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGTGGCGGTGGCCGCG 0.672 FAT2 2196 broad.mit.edu 37 5 150942915 150942915 + Missense_Mutation SNP A A G TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr5:150942915A>G uc003lue.4 - 1 3558 c.3545T>C c.(3544-3546)aTg>aCg p.M1182T FAT2_uc010jhx.1_Missense_Mutation_p.M1182T NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 1182 Cadherin 10. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAGAATCCCATGTAGTTCCC 0.512 LARP1 23367 broad.mit.edu 37 5 154135677 154135677 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr5:154135677C>T uc003lvo.3 + LARP1_uc021ygh.1_Intron|LARP1_uc021ygi.1_Silent_p.P120P|LARP1_uc010jie.1_5'Flank NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGGAAGCCCCCCCGCCCAAGG 0.736 GPR116 221395 broad.mit.edu 37 6 46826522 46826522 + Missense_Mutation SNP A A T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr6:46826522A>T uc003oyo.3 - 16 3407 c.3118T>A c.(3118-3120)Tcg>Acg p.S1040T GPR116_uc011dwj.1_Missense_Mutation_p.S595T|GPR116_uc011dwk.1_Missense_Mutation_p.S469T|GPR116_uc003oyp.3_Missense_Mutation_p.S898T|GPR116_uc003oyq.3_Missense_Mutation_p.S1040T|GPR116_uc010jzi.1_Missense_Mutation_p.S712T NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 1040 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TTGGTCACCGATTTCCACACC 0.507 MANEA 79694 broad.mit.edu 37 6 96054014 96054014 + Silent SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr6:96054014G>A uc003poo.2 + 4 1302 c.1122G>A c.(1120-1122)cgG>cgA p.R374R NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN Homo sapiens mannosidase, endo-alpha (MANEA), mRNA. 374 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AAAACACTCGGAACCGAATCA 0.408 SLC22A16 85413 broad.mit.edu 37 6 110768146 110768146 + Frame_Shift_Del DEL A A - TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr6:110768146delA uc003puf.3 - 2 648 c.581delT c.(580-582)ttgfs p.L194fs SLC22A16_uc003pue.3_Frame_Shift_Del_p.L175fs NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 194 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TATTCCAAACAAAAACATGCT 0.433 OLIG3 167826 broad.mit.edu 37 6 137815222 137815222 + Missense_Mutation SNP T T C TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr6:137815222T>C uc003qhp.1 - 0 310 c.86A>G c.(85-87)cAc>cGc p.H29R NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA. 29 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) gtggtggtggtggcggtggtg 0.577 REPS1 85021 broad.mit.edu 37 6 139266737 139266737 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr6:139266737C>T uc003qii.3 - 2 954 c.375G>A c.(373-375)tcG>tcA p.S125S REPS1_uc003qig.4_Silent_p.S125S|REPS1_uc011edr.2_Silent_p.S125S|REPS1_uc003qij.3_Silent_p.S125S|REPS1_uc003qik.3_5'UTR NM_031922 NP_114128 Q96D71 REPS1_HUMAN Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA. 125 coated pit|plasma membrane calcium ion binding|SH3 domain binding p.H124N(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) CACCAGAATACGACCCTTGAT 0.483 PCLO 27445 broad.mit.edu 37 7 82580167 82580167 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr7:82580167C>T uc003uhx.2 - 5 10026 c.9737G>A c.(9736-9738)cGa>cAa p.R3246Q PCLO_uc003uhv.2_Missense_Mutation_p.R3246Q|PCLO_uc010lec.3_Missense_Mutation_p.R211Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3177 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R3246L(3)|p.R3246R(1)|p.R3177L(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCTTGTTCTCGGAACCTTTG 0.473 ABCB1 5243 broad.mit.edu 37 7 87174224 87174224 + Missense_Mutation SNP G G C TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr7:87174224G>C uc003uiz.2 - 16 2472 c.1979C>G c.(1978-1980)tCc>tGc p.S660C ABCB1_uc011khc.2_Missense_Mutation_p.S596C NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 660 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) TATTAGACTGGATCTTGAATC 0.388 COL1A2 1278 broad.mit.edu 37 7 94039107 94039107 + Missense_Mutation SNP G G A rs67865220 TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr7:94039107G>A uc003ung.1 + 18 1480 c.1009G>A c.(1009-1011)Ggt>Agt p.G337S COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 337 G -> C (in OI3).|G -> S (in OI3). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTGCTGCCGGTGCTACTGG 0.557 HNSCC(75;0.22) C7orf43 55262 broad.mit.edu 37 7 99753440 99753440 + Silent SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr7:99753440G>A uc003utr.3 - 8 1429 c.1249C>T c.(1249-1251)Ctg>Ttg p.L417L C7orf43_uc010lgo.3_Silent_p.L43L|C7orf43_uc010lgp.3_Silent_p.L39L|C7orf43_uc011kjj.2_Silent_p.L185L|C7orf43_uc003uts.3_Silent_p.L148L NM_018275 NP_060745 Q8WVR3 CG043_HUMAN Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA. 417 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCTCACACAGCTGCTTTCCT 0.612 ZCWPW1 55063 broad.mit.edu 37 7 99998739 99998739 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr7:99998739C>T uc003uut.3 - 17 2093 c.1845G>A c.(1843-1845)gaG>gaA p.E615E ZCWPW1_uc011kjq.2_Silent_p.E495E|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Silent_p.E444E|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 615 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCATGAGTTGCTCCAGGTCCA 0.612 MUC17 140453 broad.mit.edu 37 7 100677675 100677675 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr7:100677675C>T uc003uxp.1 + 2 3031 c.2978C>T c.(2977-2979)aCg>aTg p.T993M MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 993 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCCACACGCTGGTGGCC 0.512 OR2A25 392138 broad.mit.edu 37 7 143772171 143772171 + Silent SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr7:143772171C>T uc011ktx.2 + 0 859 c.859C>T c.(859-861)Cta>Tta p.L287L NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GCTTAATCCCCTAATTTATAG 0.413 DEPTOR 64798 broad.mit.edu 37 8 121021282 121021282 + Silent SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr8:121021282G>A uc003yow.4 + 7 1198 c.1011G>A c.(1009-1011)gcG>gcA p.A337A DEPTOR_uc011lid.2_Silent_p.A236A NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA. 337 PDZ. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 TTGGTGACGCGGTTGGCTGGG 0.542 FAM83H 286077 broad.mit.edu 37 8 144808270 144808270 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr8:144808270G>A uc003yzk.3 - 4 3430 c.3361C>T c.(3361-3363)Cgc>Tgc p.R1121C NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA. 1121 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCCATGCGGCGCAGCAGCCGA 0.677 TAF1L 138474 broad.mit.edu 37 9 32633525 32633525 + Missense_Mutation SNP G G A rs147409173 TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr9:32633525G>A uc003zrg.1 - 0 2143 c.2053C>T c.(2053-2055)Cgc>Tgc p.R685C AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 685 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 p.R685C(2)|p.R685L(1) 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) TGAGGTGTGCGCATAAAAAAC 0.448 STRBP 55342 broad.mit.edu 37 9 125909182 125909182 + Silent SNP T T C TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chr9:125909182T>C uc004bns.3 - 12 1732 c.1290A>G c.(1288-1290)gaA>gaG p.E430E STRBP_uc004bnt.3_Silent_p.E248E|STRBP_uc004bnu.3_Silent_p.E416E|STRBP_uc004bnv.3_Silent_p.E430E NM_018387 NP_001164608 Q96SI9 STRBP_HUMAN Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA. 430 DRBM 1. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 GTCCTGAGGCTTCATATGTTG 0.433 FAM47A 158724 broad.mit.edu 37 X 34150044 34150044 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chrX:34150044C>T uc004ddg.3 - 0 404 c.352G>A c.(352-354)Gta>Ata p.V118I NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 118 p.V118I(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACTTGCTCTACGAACGCCTTC 0.547 ZNF711 7552 broad.mit.edu 37 X 84526085 84526085 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0180465-3685-4735-a76e-acbeebfa635a ee331f5d-4cef-4c7e-9c0e-16efd5ff3417 g.chrX:84526085G>A uc004eeq.3 + 9 2561 c.1675G>A c.(1675-1677)Ggt>Agt p.G559S ZNF711_uc004eep.3_Missense_Mutation_p.G513S|ZNF711_uc004eeo.3_Missense_Mutation_p.G513S|ZNF711_uc011mqy.1_Missense_Mutation_p.G112S NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 513 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GTGTGGGAAGGGTTTTCGACA 0.413