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 GPR98 84059 broad.mit.edu 37 5 90106491 90106491 + Silent SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr5:90106491C>T ENST00000405460.2 + 74 15510 c.15414C>T c.(15412-15414)ccC>ccT p.P5138P GPR98_ENST00000425867.2_Silent_p.P799P NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5138 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTCCTTCCCCGAGACAACTG 0.448000 6 216 0 0 1 0 0 TSR2 90121 broad.mit.edu 37 X 54470611 54470611 + Missense_Mutation SNP G G C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:54470611G>C ENST00000375151.4 + 4 456 c.435G>C c.(433-435)gaG>gaC p.E145D NM_058163.1 NP_477511.1 Q969E8 TSR2_HUMAN TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 145 rRNA processing protein binding breast(1)|endometrium(3)|lung(2) 6 GTGTGGAAGAGATGGAGGTGA 0.498000 65 86 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154159216 154159216 + Missense_Mutation SNP T T C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:154159216T>C ENST00000360256.4 - 14 3049 c.2849A>G c.(2848-2850)gAg>gGg p.E950G NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 950 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCCACCAGACTCAGTAAGGGG 0.373000 5 110 0 0 1 0 0 OR5C1 392391 broad.mit.edu 37 9 125551909 125551909 + Missense_Mutation SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr9:125551909G>A ENST00000373680.2 + 1 760 c.698G>A c.(697-699)cGc>cAc p.R233H NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 ATCCACATGCGCTCGGTCGAG 0.592000 6 77 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120003112 120003112 + Missense_Mutation SNP C C A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr2:120003112C>A ENST00000354888.5 + 3 544 c.40C>A c.(40-42)Ctg>Atg p.L14M STEAP3_ENST00000393108.2_Missense_Mutation_p.L14M|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393110.2_Missense_Mutation_p.L24M|STEAP3_ENST00000409811.1_Missense_Mutation_p.L14M|STEAP3_ENST00000425223.2_Missense_Mutation_p.L14M|STEAP3_ENST00000450943.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393106.2_Missense_Mutation_p.L14M NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 14 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CAGCCTCCACCTGGTGGACAG 0.612000 3 73 1 1 1 1 0 SBK1 388228 broad.mit.edu 37 16 28331453 28331453 + Silent SNP G G C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr16:28331453G>C ENST00000341901.4 + 4 1275 c.486G>C c.(484-486)ctG>ctC p.L162L NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 162 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GCCTGGCGCTGGACTTCATGC 0.692000 2 9 0 0 1 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62917174 62917174 + Missense_Mutation SNP T T G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:62917174T>G ENST00000253401.6 - 4 1192 c.392A>C c.(391-393)aAg>aCg p.K131T ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K29T|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K78T|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K110T|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K129T NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 131 DH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 CCGGCACTGCTTCAGATAGCC 0.453000 4 76 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46023170 46023170 + Splice_Site SNP T T C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr3:46023170T>C ENST00000296137.2 - 3 261 c.e3-2 FYCO1_ENST00000535325.1_Splice_Site NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TCACAGCATCTTTAAGACAAC 0.408000 26 33 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808237 18808237 + Silent SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr1:18808237C>T ENST00000400664.1 + 1 814 c.762C>T c.(760-762)ggC>ggT p.G254G NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 254 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGCAGGAGGGCGCCCCCAACT 0.612000 6 138 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148035253 148035253 + Missense_Mutation SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:148035253G>A ENST00000370460.2 + 10 2020 c.1541G>A c.(1540-1542)cGt>cAt p.R514H AFF2_ENST00000370457.5_Missense_Mutation_p.R481H|AFF2_ENST00000342251.3_Missense_Mutation_p.R481H|AFF2_ENST00000286437.5_Missense_Mutation_p.R155H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 514 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GAGGCACCTCGTGTGGCAACT 0.567000 75 100 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3691639 3691639 + Silent SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr2:3691639C>T ENST00000403096.3 + 6 1160 c.669C>T c.(667-669)ggC>ggT p.G223G COLEC11_ENST00000418971.2_Silent_p.G263G|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.G175G|COLEC11_ENST00000402922.1_Silent_p.G199G|COLEC11_ENST00000382062.2_Silent_p.G225G|COLEC11_ENST00000349077.4_Silent_p.G249G|COLEC11_ENST00000236693.7_Silent_p.G246G|COLEC11_ENST00000402794.1_Silent_p.G199G NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 249 C-type lectin. collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) TGGCCTCGGGCGGCTGGAACG 0.617000 47 59 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39648579 39648579 + Missense_Mutation SNP A A G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr14:39648579A>G ENST00000216832.4 + 8 773 c.706A>G c.(706-708)Aag>Gag p.K236E PNN_ENST00000557680.1_3'UTR NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 236 Glu-rich.|Necessary for interaction with RNPS1. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) TATAAGAACTAAGACAAAGCC 0.338000 3 24 0 0 1 0 0 PHF7 51533 broad.mit.edu 37 3 52454349 52454349 + Missense_Mutation SNP A A G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr3:52454349A>G ENST00000327906.3 + 6 971 c.311A>G c.(310-312)aAg>aGg p.K104R PHF7_ENST00000478707.1_Missense_Mutation_p.K104R|PHF7_ENST00000347025.2_Missense_Mutation_p.K104R NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 104 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) TGCAAGAAAAAGGGAGCTGCT 0.453000 3 154 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172930372 172930372 + Missense_Mutation SNP G G T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr2:172930372G>T ENST00000315796.4 + 4 776 c.389G>T c.(388-390)cGg>cTg p.R130L METAP1D_ENST00000488581.1_Intron NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 130 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 CTTGTTCATCGGGAAATCATC 0.368000 3 92 1 1 1 1 0 PIEZO2 63895 broad.mit.edu 37 18 10691360 10691360 + Silent SNP A A C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr18:10691360A>C ENST00000302079.6 - 44 6872 c.6873T>G c.(6871-6873)gtT>gtG p.V2291V PIEZO2_ENST00000285141.4_Silent_p.V146V|PIEZO2_ENST00000580640.1_Silent_p.V2316V|PIEZO2_ENST00000503781.3_Silent_p.V2291V|PIEZO2_ENST00000538948.1_Silent_p.V248V Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2291 integral to membrane ion channel activity AAAGCTGGGCAACCAGGTTCT 0.428000 4 71 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110952273 110952273 + Missense_Mutation SNP G G C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:110952273G>C ENST00000394780.3 + 5 843 c.831G>C c.(829-831)gaG>gaC p.E277D ALG13_ENST00000251943.4_Missense_Mutation_p.E173D|ALG13-AS1_ENST00000430794.1_RNA NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 277 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 AAACTTTTGAGTCTGTAAGTA 0.388000 3 7 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631898 101631898 + Missense_Mutation SNP C C G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr5:101631898C>G ENST00000310954.6 - 1 355 c.69G>C c.(67-69)ttG>ttC p.L23F NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 23 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GCGACGCAGACAAGCGGCGCA 0.577000 21 31 0 0 1 0 0 C8orf47 203111 broad.mit.edu 37 8 99101917 99101917 + Missense_Mutation SNP G G C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr8:99101917G>C ENST00000318528.3 + 2 1031 c.672G>C c.(670-672)gaG>gaC p.E224D C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 224 Glu-rich. kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) TTTCCAAAGAGAATGAATCTC 0.483000 17 33 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747181 158747181 + Missense_Mutation SNP A A G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr1:158747181A>G ENST00000339258.1 - 1 244 c.245T>C c.(244-246)tTg>tCg p.L82S NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) AATATTAGACAACATCTTAGG 0.448000 9 149 0 0 1 0 0 PAGE1 8712 broad.mit.edu 37 X 49455852 49455852 + Splice_Site SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:49455852C>T ENST00000376150.3 - 4 424 c.292_splice c.e4+1 p.G98_splice NM_003785.3 NP_003776.2 O75459 GAGB1_HUMAN P antigen family, member 1 (prostate associated) 98 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) GACTACCTACCTTCTGCGGGC 0.468000 13 52 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89480429 89480429 + Missense_Mutation SNP A A G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr3:89480429A>G ENST00000336596.2 + 13 2491 c.2266A>G c.(2266-2268)Agt>Ggt p.S756G EPHA3_ENST00000494014.1_Missense_Mutation_p.S756G NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 756 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTTGATCAACAGTAACTTGGT 0.478000 TSP Lung(6;0.00050) 18 37 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18787332 18787332 + Missense_Mutation SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr10:18787332G>A ENST00000396576.2 + 3 718 c.217G>A c.(217-219)Gcc>Acc p.A73T CACNB2_ENST00000282343.8_Missense_Mutation_p.A100T|CACNB2_ENST00000324631.7_Missense_Mutation_p.A128T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A74T|CACNB2_ENST00000377315.4_Missense_Mutation_p.A80T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A128T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A73T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A100T|CACNB2_ENST00000377328.1_Missense_Mutation_p.A128T NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 128 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTACAGTGCGGCCCATGAAGA 0.423000 4 81 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539141 56539141 + Silent SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr19:56539141C>T ENST00000390649.3 + 7 1542 c.1542C>T c.(1540-1542)ggC>ggT p.G514G NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 514 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCCCTCGAGGCGTGGTCCGGC 0.592000 14 16 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31590686 31590686 + Missense_Mutation SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr14:31590686C>T ENST00000399332.1 - 28 5629 c.5141G>A c.(5140-5142)cGt>cAt p.R1714H HECTD1_ENST00000553700.1_Missense_Mutation_p.R1714H NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1714 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GCCAGCTCGACGTTGCAGGGA 0.507000 15 31 0 0 1 0 0 KIF25 0 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr6:168430272T>A ENST00000443060.2 + 3 398 c.7T>A c.(7-9)Tgg>Agg p.W3R KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R Q9UIL4 KIF25_HUMAN kinesin family member 25 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3R(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.612000 5 200 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31589846 31589846 + Missense_Mutation SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr2:31589846C>T ENST00000379416.3 - 21 2260 c.2212G>A c.(2212-2214)Ggt>Agt p.G738S NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 738 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCTTGGCCACCGATGTATATC 0.537000 8 117 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 4 39 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70618475 70618475 + Missense_Mutation SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:70618475G>A ENST00000449580.1 + 24 3722 c.3671G>A c.(3670-3672)cGg>cAg p.R1224Q TAF1_ENST00000423759.1_Missense_Mutation_p.R1245Q|TAF1_ENST00000373790.4_Missense_Mutation_p.R1224Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1245Q P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1224 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) CGAAAAGAACGGCGGAGGATT 0.473000 24 34 0 0 1 0 0 SDR39U1 56948 broad.mit.edu 37 14 24909470 24909470 + Missense_Mutation SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr14:24909470G>A ENST00000554698.1 - 4 884 c.377C>T c.(376-378)gCt>gTt p.A126V SDR39U1_ENST00000553930.1_Missense_Mutation_p.A109V|KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A234V|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A139V|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A67V|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A152V Q9NRG7 D39U1_HUMAN short chain dehydrogenase/reductase family 39U, member 1 260 binding NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1) 5 GCCCAGGGCAGCACCCAAGGT 0.622000 3 54 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161016555 161016555 + Missense_Mutation SNP C C G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr6:161016555C>G ENST00000447678.1 - 22 3420 c.3300G>C c.(3298-3300)agG>agC p.R1100S LPA_ENST00000316300.5_Missense_Mutation_p.R1100S NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3608 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGCAGTAGTTCCTGGTCAGGC 0.498000 6 66 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66084109 66084109 + Silent SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr11:66084109G>A ENST00000311330.3 - 1 406 c.390C>T c.(388-390)cgC>cgT p.R130R RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 130 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GGGCCACACAGCGCTGGGCCG 0.701000 31 17 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45152168 45152168 + Missense_Mutation SNP C C G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr3:45152168C>G ENST00000296129.1 - 4 955 c.821G>C c.(820-822)tGt>tCt p.C274S CDCP1_ENST00000425231.2_Missense_Mutation_p.C274S NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 274 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CTTCCTCTCACAGTTGGAGAG 0.592000 3 137 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76813058 76813058 + Missense_Mutation SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:76813058C>T ENST00000373344.5 - 30 6777 c.6563G>A c.(6562-6564)cGa>cAa p.R2188Q ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R2150Q NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2188 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATCAACAACTCGAAAAGACAG 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 53 59 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26116671 26116671 + Nonsense_Mutation SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr17:26116671G>A ENST00000313735.6 - 3 387 c.154C>T c.(154-156)Cag>Tag p.Q52* NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 52 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCATTCTGCTGCTTGCTGAGG 0.567000 8 184 0 0 1 0 0 HDX 139324 broad.mit.edu 37 X 83723854 83723854 + Missense_Mutation SNP A A G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:83723854A>G ENST00000297977.5 - 3 988 c.877T>C c.(877-879)Tgt>Cgt p.C293R HDX_ENST00000506585.2_Missense_Mutation_p.C235R|HDX_ENST00000373177.2_Missense_Mutation_p.C293R NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ATGGACAAACAATTTCCTTCT 0.473000 9 121 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 40 46 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373270 86373270 + Missense_Mutation SNP C C G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr12:86373270C>G ENST00000604798.1 - 8 2438 c.1234G>C c.(1234-1236)Gat>Cat p.D412H MGAT4C_ENST00000548651.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D441H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D412H Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 412 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TCCCCAACATCTAGGGCTCCA 0.318000 4 52 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35445842 35445842 + Silent SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr20:35445842G>A ENST00000237536.4 - 4 1443 c.1102C>T c.(1102-1104)Ctg>Ttg p.L368L SOGA1_ENST00000279034.5_Silent_p.L130L|SOGA1_ENST00000357779.3_Silent_p.L130L NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 130 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 GCCTTCCCCAGGGAGCGGGTT 0.453000 9 10 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154250803 154250803 + Missense_Mutation SNP A A G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:154250803A>G ENST00000360256.4 - 1 225 c.25T>C c.(25-27)Ttc>Ctc p.F9L NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 9 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CACAGAAAGAAGCAGGTGGAG 0.433000 3 129 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 2 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 5 153 0 0 1 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31798186 31798186 + Silent SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr21:31798186G>A ENST00000390690.2 - 1 100 c.45C>T c.(43-45)caC>caT p.H15H NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 15 intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 AGTAACCCCCGTGGGAGCAGG 0.542000 67 83 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46793715 46793715 + Missense_Mutation SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr22:46793715C>T ENST00000262738.3 - 12 5556 c.5557G>A c.(5557-5559)Gtc>Atc p.V1853I NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1853 Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGGTGGCGACGTTGGTGGGC 0.602000 14 16 0 0 1 0 0 HOXD3 3232 broad.mit.edu 37 2 177033896 177033896 + Silent SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr2:177033896G>A ENST00000468418.3 + 3 2144 c.54G>A c.(52-54)caG>caA p.Q18Q HOXD3_ENST00000410016.1_Silent_p.Q18Q|HOXD3_ENST00000249440.3_Silent_p.Q18Q P31249 HXD3_HUMAN homeobox D3 18 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GCACAATGCAGAAGGCTGCTT 0.527000 3 74 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76024718 76024718 + Missense_Mutation SNP T T C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr6:76024718T>C ENST00000393004.2 - 5 1051 c.830A>G c.(829-831)gAa>gGa p.E277G FILIP1_ENST00000237172.7_Missense_Mutation_p.E277G|FILIP1_ENST00000370020.1_Missense_Mutation_p.E178G|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 277 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTCTTCTTCTTCCCTCAGCTT 0.423000 4 87 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25344651 25344651 + RNA SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr15:25344651G>A ENST00000546682.1 + 0 1475 SNHG14_ENST00000553108.1_RNA|SNORD116-26_ENST00000516006.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TGCCTGGATCGATGATGACTA 0.443000 18 35 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 7 86 0.00198382 0.0020468 1 1 0 MMGT1 93380 broad.mit.edu 37 X 135047268 135047268 + Missense_Mutation SNP G G A rs150859420 TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:135047268G>A ENST00000305963.2 - 4 698 c.311C>T c.(310-312)tCg>tTg p.S104L MMGT1_ENST00000433339.2_Missense_Mutation_p.S169L NM_173470.1 NP_775741.1 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 104 early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1) 3 TGCTGTATCCGAAGGCCGGAA 0.358000 31 213 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170026253 170026253 + Missense_Mutation SNP C C A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr2:170026253C>A ENST00000263816.3 - 60 11741 c.11456G>T c.(11455-11457)gGa>gTa p.G3819V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3819 LDL-receptor class A 33. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCAGCGGATCCATCGCATTT 0.428000 17 108 1.67942e-08 1.78954e-08 1 1 0 SULT1E1 6783 broad.mit.edu 37 4 70709895 70709895 + Silent SNP C C T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr4:70709895C>T ENST00000226444.3 - 7 868 c.756G>A c.(754-756)tcG>tcA p.S252S NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 252 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TCATGAAGGGCGACAATTTCT 0.393000 58 124 0 0 1 0 0 IGHD 0 broad.mit.edu 37 14 106306673 106306673 + RNA SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr14:106306673G>A ENST00000390556.2 - 0 1125 CAGAGTCCCCGTCCCAACCCT 0.662000 4 5 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135649705 135649705 + Splice_Site SNP T T C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr8:135649705T>C ENST00000520727.1 - 4 710 c.412_splice c.e4+1 p.A137_splice ZFAT_ENST00000429442.2_Splice_Site_p.A137_splice|ZFAT_ENST00000377838.3_Splice_Site_p.A149_splice|ZFAT_ENST00000520356.1_Splice_Site_p.A137_splice|ZFAT_ENST00000520214.1_Splice_Site_p.A137_splice|ZFAT_ENST00000523399.1_Splice_Site_p.A149_splice NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AGCATTTACCTGCTTCTCCTT 0.468000 75 105 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43701105 43701105 + Missense_Mutation SNP T T C TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr15:43701105T>C ENST00000263801.3 - 26 5827 c.5575A>G c.(5575-5577)Att>Gtt p.I1859V TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1862V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1814V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1864V NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1859 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CAGTCCAGAATTCTTTGCTCC 0.473000 Other conserved DNA damage response genes 6 91 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 4 34 0 0 1 0 0 TRIM41 90933 broad.mit.edu 37 5 180651435 180651435 + Missense_Mutation SNP A A T TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr5:180651435A>T ENST00000315073.5 + 1 1146 c.436A>T c.(436-438)Agg>Tgg p.R146W TRIM41_ENST00000351937.5_Missense_Mutation_p.R146W NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 146 Glu-rich. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ggaggacctgaggggggagga 0.627000 28 47 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95512812 95512812 + Missense_Mutation SNP C C G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr11:95512812C>G ENST00000358780.5 - 7 963 c.651G>C c.(649-651)aaG>aaC p.K217N FAM76B_ENST00000536839.1_Missense_Mutation_p.K217N NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 217 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGGGCTTTTTCTTTGGAGTTT 0.308000 14 126 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40765009 40765009 + Missense_Mutation SNP A A G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr17:40765009A>G ENST00000251413.3 + 6 586 c.524A>G c.(523-525)cAg>cGg p.Q175R NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 175 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) TTTCCCAACCAGGACGAGATG 0.537000 5 181 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169699643 169699643 + Silent SNP C C A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr1:169699643C>A ENST00000333360.7 - 5 784 c.645G>T c.(643-645)ctG>ctT p.L215L SELE_ENST00000367777.1_Silent_p.L215L|SELE_ENST00000367776.1_Silent_p.L215L|SELE_ENST00000367779.4_Silent_p.L215L|SELE_ENST00000367775.1_Intron|SELE_ENST00000367782.4_Silent_p.L215L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Silent_p.L215L|SELE_ENST00000367774.1_Silent_p.L215L|SELE_ENST00000367780.4_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 215 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TGCTGCTTGGCAGGTAACCCC 0.512000 5 130 2.7689e-08 2.90287e-08 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 55 0 0 1 0 0 IGKV6D-41 0 broad.mit.edu 37 2 90108679 90108680 + RNA INS - - T rs146434787 by1000genomes TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr2:90108679_90108680insT ENST00000390271.2 + 0 75 TTTAAATGTGATTTTTTTTTAA 0.302 4 1 --- --- --- --- CAPN11 11131 broad.mit.edu 37 6 44140054 44140055 + Frame_Shift_Ins INS - - GGCTGCC rs140464205 by1000genomes TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr6:44140054_44140055insGGCTGCC ENST00000542245.1 + 5 463_464 c.425_426insGGCTGCC c.(424-426)cgcfs p.-142fs CAPN11_ENST00000398776.1_Frame_Shift_Ins_p.-142fs Q9UMQ6 CAN11_HUMAN calpain 11 proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCTGGCTGCTGGCTGCCATCG 0.584 OREG0017466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- GRIFIN 402635 broad.mit.edu 37 7 2516123 2516124 + RNA INS - - G TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr7:2516123_2516124insG ENST00000417742.1 - 0 170 galectin-related inter-fiber protein Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14) gggggagggctgggggtgggga 0.787 4 6 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 7 30 --- --- --- --- PTCH1 5727 broad.mit.edu 37 9 98270593 98270595 + In_Frame_Del DEL GCC GCC - TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr9:98270593_98270595delGCC ENST00000331920.6 - 1 348_350 c.49_51delGGC c.(49-51)del p.G17del PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000430669.2_Intron NM_000264.3 NP_000255.2 Q13635 PTC1_HUMAN patched 1 17 Gly-rich. embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TACAGCCGCTGCCGCCGCCGCCG 0.813 2 4 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 8 261 --- --- --- --- RP11-866E20.3 0 broad.mit.edu 37 18 57677882 57677882 + RNA DEL A A - TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr18:57677882delA ENST00000585691.1 + 0 370 CGGGGTGGAGAAAAAGGAAAG 0.652 2 4 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50155567 50155569 + In_Frame_Del DEL AAG AAG - TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chr19:50155567_50155569delAAG ENST00000360565.3 + 7 2045_2047 c.1921_1923delAAG c.(1921-1923)del p.K645del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 645 Arg-rich.|Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TGGCGGCAGCAAGAAGAAGAAGA 0.744 2 4 --- --- --- --- FRMPD3 84443 broad.mit.edu 37 X 106843712 106843712 + Frame_Shift_Del DEL C C - TCGA-HT-7693-01A-11D-2253-08 TCGA-HT-7693-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f18cb1e-8576-4fd3-a7a1-eb549089bad2 eb46a1d3-0492-467e-9576-fd233bbff676 g.chrX:106843712delC ENST00000276185.4 + 16 2542 c.2542delC c.(2542-2544)ccfs p.P848fs Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 848 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 CAAGGACCTGCCCTTCCGGAT 0.607 13 104 --- --- --- ---