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 TNFRSF4 7293 broad.mit.edu 37 1 1149428 1149428 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:1149428G>A uc001ade.2 - 1 85 c.80C>T c.(79-81)ACG>ATG p.T27M TNFRSF4_uc001adf.2_Translation_Start_Site NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 27 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GTGGAGCCCCGTCACGGTGCT 0.726 KAZ 23254 broad.mit.edu 37 1 15370623 15370623 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:15370623C>T uc001avm.3 + 4 975 c.694C>T c.(694-696)CGG>TGG p.R232W KAZ_uc009vog.1_Missense_Mutation_p.R232W|KAZ_uc010obj.1_Missense_Mutation_p.R232W|KAZ_uc001avo.2_Missense_Mutation_p.R226W|KAZ_uc001avp.2_Missense_Mutation_p.R138W|KAZ_uc001avq.2_Missense_Mutation_p.R138W|KAZ_uc001avr.2_Missense_Mutation_p.R135W NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 232 Interaction with PPL.|Potential. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 CAAGGACAACCGGATGAAGGA 0.677 HP1BP3 50809 broad.mit.edu 37 1 21106920 21106921 + Frame_Shift_Ins INS - T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:21106920_21106921insT uc001bdw.1 - 2 153_154 c.13_14insA c.(13-15)ACGfs p.T5fs HP1BP3_uc001bdv.1_5'UTR|HP1BP3_uc010odh.1_Intron|HP1BP3_uc001bdy.1_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001beb.2_Frame_Shift_Ins_p.T5fs NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 5 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 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) ACCTTGAGACGTATCAGTCGCC 0.475 ARID1A 8289 broad.mit.edu 37 1 27092731 27092731 + Missense_Mutation SNP A G G rs141432631 TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:27092731A>G uc001bmv.1 + 9 3125 c.2752A>G c.(2752-2754)ATG>GTG p.M918V ARID1A_uc001bmt.1_Missense_Mutation_p.M918V|ARID1A_uc001bmu.1_Missense_Mutation_p.M918V|ARID1A_uc001bmw.1_Missense_Mutation_p.M535V NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 918 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTACCCCAATATGAATCAAGG 0.483 Mis|N|F|S|D clear cell ovarian carcinoma|RCC RNF19B 127544 broad.mit.edu 37 1 33408041 33408042 + Frame_Shift_Ins INS - GC GC TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:33408041_33408042insGC uc010oho.1 - 7 1424_1425 c.1424_1425insGC c.(1423-1425)GCCfs p.A475fs RNF19B_uc001bwm.3_Frame_Shift_Ins_p.A474fs|RNF19B_uc010ohp.1_Frame_Shift_Ins_p.A474fs NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B isoform a 475 integral to membrane ligase activity|protein binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GATTCTTGAGGGCTCTCCAGGC 0.475 FAM159A 348378 broad.mit.edu 37 1 53099192 53099192 + Silent SNP G C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:53099192G>C uc001cuf.2 + 1 127 c.27G>C c.(25-27)GTG>GTC p.V9V FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 9 integral to membrane 0 CGAGCTACGTGAGCGCAGAGC 0.617 WDR63 126820 broad.mit.edu 37 1 85559260 85559260 + Missense_Mutation SNP A T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:85559260A>T uc001dkt.2 + 9 1168 c.977A>T c.(976-978)CAG>CTG p.Q326L WDR63_uc009wcl.2_Missense_Mutation_p.Q287L NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 326 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) AAAGAGTACCAGTCCTTTACC 0.438 WDR63 126820 broad.mit.edu 37 1 85592202 85592202 + Silent SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:85592202G>A uc001dkt.2 + 20 2312 c.2121G>A c.(2119-2121)CCG>CCA p.P707P WDR63_uc009wcl.2_Silent_p.P668P NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 707 WD 3. upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) AGACTGGACCGCTCCTTCAGT 0.423 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G A A rs77484671 TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 TDRKH 11022 broad.mit.edu 37 1 151748582 151748582 + Missense_Mutation SNP T C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:151748582T>C uc009wnb.1 - 8 1389 c.1207A>G c.(1207-1209)AGG>GGG p.R403G TDRKH_uc001eyy.2_Missense_Mutation_p.R179G|TDRKH_uc001ezb.3_Missense_Mutation_p.R399G|TDRKH_uc001ezc.3_Missense_Mutation_p.R358G|TDRKH_uc001eza.3_Missense_Mutation_p.R403G|TDRKH_uc001ezd.3_Missense_Mutation_p.R403G|TDRKH_uc010pdn.1_Missense_Mutation_p.R179G NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing isoform a 403 Tudor. RNA binding ovary(1)|pancreas(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTGAGAGCCCTGAGGTCCTTC 0.537 CR2 1380 broad.mit.edu 37 1 207643227 207643227 + Nonsense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:207643227G>A uc001hfw.2 + 6 1099 c.1005G>A c.(1003-1005)TGG>TGA p.W335* CR2_uc001hfv.2_Nonsense_Mutation_p.W335*|CR2_uc009xch.2_Nonsense_Mutation_p.W335*|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 335 Sushi 5.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CTGGGACCTGGAGTGGCCCTG 0.522 OR1C1 26188 broad.mit.edu 37 1 247920937 247920937 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr1:247920937C>T uc010pza.1 - 1 772 c.772G>A c.(772-774)GTC>ATC p.V258I NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CTGAAATAGACGGCGATGGCT 0.512 HKDC1 80201 broad.mit.edu 37 10 71025477 71025477 + Silent SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr10:71025477C>T uc001jpf.3 + 17 2642 c.2509C>T c.(2509-2511)CTG>TTG p.L837L HKDC1_uc010qje.1_Silent_p.L700L|HKDC1_uc009xqb.2_RNA NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 837 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 CGGTGCTGGCCTGGCCGCTAT 0.642 PTEN 5728 broad.mit.edu 37 10 89692905 89692905 + Missense_Mutation SNP G A A rs121913292 TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr10:89692905G>A uc001kfb.2 + 6 1420 c.389G>A c.(388-390)CGA>CAA p.R130Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3). R->M: Does not affect the ability to inhibit AKT/PKB activation. 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.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 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) GGAAAGGGACGAACTGGTGTA 0.403 R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM) 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PDZD7 79955 broad.mit.edu 37 10 102789812 102789812 + Silent SNP G T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr10:102789812G>T uc001kso.1 - 2 380 c.165C>A c.(163-165)CCC>CCA p.P55P PDZD7_uc001ksn.2_Silent_p.P55P|SFXN3_uc001ksp.2_5'Flank|SFXN3_uc001ksq.2_5'Flank|SFXN3_uc010qpx.1_5'Flank NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 55 cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GGATTCCGCGGGGGGGCCCGT 0.662 HPS6 79803 broad.mit.edu 37 10 103827208 103827208 + Silent SNP C G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr10:103827208C>G uc001kuj.2 + 1 2062 c.1977C>G c.(1975-1977)CTC>CTG p.L659L NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 659 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GCCTGGCCCTCGGCCCCTCCA 0.617 Hermansky-Pudlak_syndrome KIAA1598 57698 broad.mit.edu 37 10 118728190 118728190 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr10:118728190C>T uc009xyw.2 - 3 643 c.145G>A c.(145-147)GTT>ATT p.V49I KIAA1598_uc001lcz.3_Missense_Mutation_p.V49I|KIAA1598_uc010qso.1_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.V49I|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.3_Missense_Mutation_p.V19I NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 49 Potential. axon guidance axon 0 all cancers(201;0.00494) AGTTTTTTAACGGCTTCATCT 0.323 SYCE1 93426 broad.mit.edu 37 10 135370273 135370273 + Missense_Mutation SNP C A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr10:135370273C>A uc001lno.2 - 8 623 c.518G>T c.(517-519)TGG>TTG p.W173L CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45L|SYCE1_uc009ybn.2_Missense_Mutation_p.W173L|SYCE1_uc001lnn.2_Missense_Mutation_p.W137L NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 173 Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GTGGAAGTCCCAGAGGTCCTT 0.512 DENND5A 23258 broad.mit.edu 37 11 9171674 9171674 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr11:9171674G>A uc001mhl.2 - 15 2944 c.2689C>T c.(2689-2691)CTT>TTT p.L897F DENND5A_uc001mhk.2_Missense_Mutation_p.L240F|DENND5A_uc010rbw.1_Missense_Mutation_p.L897F|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 897 RUN 1. liver(1) 1 TGTCTGGAAAGTAACTTTTTT 0.517 OR4C11 219429 broad.mit.edu 37 11 55371464 55371464 + Missense_Mutation SNP C T T rs146220981 byFrequency TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr11:55371464C>T uc010rii.1 - 1 386 c.386G>A c.(385-387)CGT>CAT p.R129H NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGTTGGGTAACGCAAGGGCTT 0.458 PRG2 5553 broad.mit.edu 37 11 57156544 57156544 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr11:57156544G>A uc001njz.2 - 2 332 c.305C>T c.(304-306)CCT>CTT p.P102L PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.P102L|PRG2_uc001nkb.2_Missense_Mutation_p.P102L|PRG2_uc001nkd.2_Missense_Mutation_p.P102L|PRG2_uc001nkc.2_Missense_Mutation_p.P102L|PRG2_uc001nke.2_Missense_Mutation_p.P382L NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 102 defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) CTGGCACCCAGGGATGCCCAC 0.532 PRG2 5553 broad.mit.edu 37 11 57156546 57156546 + Silent SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr11:57156546G>A uc001njz.2 - 2 330 c.303C>T c.(301-303)ATC>ATT p.I101I PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.I101I|PRG2_uc001nkb.2_Silent_p.I101I|PRG2_uc001nkd.2_Silent_p.I101I|PRG2_uc001nkc.2_Silent_p.I101I|PRG2_uc001nke.2_Silent_p.I381I NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 101 defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) GGCACCCAGGGATGCCCACCA 0.537 MS4A14 84689 broad.mit.edu 37 11 60184319 60184319 + Silent SNP C T T rs147367847 byFrequency TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr11:60184319C>T uc001npj.2 + 5 2443 c.1878C>T c.(1876-1878)GCC>GCT p.A626A MS4A14_uc001npi.2_Silent_p.A514A|MS4A14_uc001npn.2_Silent_p.A364A|MS4A14_uc001npk.2_Silent_p.A609A|MS4A14_uc001npl.2_Silent_p.A364A|MS4A14_uc001npm.2_Silent_p.A364A NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 626 Gln-rich. integral to membrane receptor activity breast(1) 1 ATGTTCAAGCCGAAGGACAGC 0.458 MEN1 4221 broad.mit.edu 37 11 64572600 64572600 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr11:64572600C>T uc001obj.2 - 9 1344 c.1271G>A c.(1270-1272)GGC>GAC p.G424D MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.G424D|MEN1_uc001obl.2_Missense_Mutation_p.G384D|MEN1_uc001obm.2_Missense_Mutation_p.G419D|MEN1_uc001obn.2_Missense_Mutation_p.G424D|MEN1_uc001obo.2_Missense_Mutation_p.G424D|MEN1_uc001obp.2_Missense_Mutation_p.G419D|MEN1_uc001obq.2_Missense_Mutation_p.G424D|MEN1_uc001obr.2_Missense_Mutation_p.G424D NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 424 Missing (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.L414_E425del(1)|p.G419fs*26(1) parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 TTTGCAGATGCCGTCGTAGAA 0.637 D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 KDM4DL 390245 broad.mit.edu 37 11 94758834 94758834 + Missense_Mutation SNP A G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr11:94758834A>G uc010ruf.1 + 1 413 c.113A>G c.(112-114)CAA>CGA p.Q38R NM_001161630 NP_001155102 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4D-like 38 JmjN. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 ATGGAGTCCCAAGGCGCACAT 0.463 ATM 472 broad.mit.edu 37 11 108183214 108183214 + Missense_Mutation SNP A G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr11:108183214A>G uc001pkb.1 + 40 6380 c.5995A>G c.(5995-5997)ATA>GTA p.I1999V ATM_uc009yxr.1_Missense_Mutation_p.I1999V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I651V|ATM_uc001pkg.1_Missense_Mutation_p.I356V|ATM_uc009yxt.1_Missense_Mutation_p.I113V NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1999 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AGAAACTGGAATAAGTTTACA 0.328 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) IFLTD1 160492 broad.mit.edu 37 12 25699396 25699396 + Missense_Mutation SNP T C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr12:25699396T>C uc001rgs.2 - 3 490 c.340A>G c.(340-342)AAG>GAG p.K114E IFLTD1_uc001rgt.1_Missense_Mutation_p.K17E|IFLTD1_uc010sji.1_Missense_Mutation_p.K135E|IFLTD1_uc010sjj.1_Missense_Mutation_p.K51E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K135E NM_152590 NP_689803 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 114 intermediate filament structural molecule activity ovary(2)|central_nervous_system(1) 3 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) GTAAGTTTCTTTGAATCACCA 0.373 CPNE8 144402 broad.mit.edu 37 12 39268300 39268300 + Nonsense_Mutation SNP T A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr12:39268300T>A uc001rls.1 - 2 196 c.112A>T c.(112-114)AGA>TGA p.R38* NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 38 C2 1. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) AATGTGTCTCTGTCAAGAAGA 0.264 DIP2B 57609 broad.mit.edu 37 12 51102260 51102260 + Missense_Mutation SNP A G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr12:51102260A>G uc001rwv.2 + 22 2720 c.2564A>G c.(2563-2565)TAT>TGT p.Y855C DIP2B_uc009zlt.2_Missense_Mutation_p.Y285C NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 855 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TCTGTATTTTATGATGAGCGC 0.448 SDR9C7 121214 broad.mit.edu 37 12 57324008 57324008 + Splice_Site SNP A G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr12:57324008A>G uc010sqw.1 - 2 560 c.560_splice c.e2+1 p.R187_splice NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 GGGCCCAGTTACCTTATGCTG 0.537 TUBA3C 7278 broad.mit.edu 37 13 19748215 19748215 + Missense_Mutation SNP T A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr13:19748215T>A uc009zzj.2 - 5 1190 c.1141A>T c.(1141-1143)ACC>TCC p.T381S NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 381 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATGGCCGTGGTGTTGCTCAGC 0.627 AHNAK2 113146 broad.mit.edu 37 14 105413630 105413630 + Missense_Mutation SNP G T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr14:105413630G>T uc010axc.1 - 7 8278 c.8158C>A c.(8158-8160)CAC>AAC p.H2720N AHNAK2_uc001ypx.2_Missense_Mutation_p.H2620N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2720 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCGGGAACGTGGCCCTCTGGG 0.602 LBXCOR1 390598 broad.mit.edu 37 15 68118619 68118619 + Silent SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr15:68118619C>T uc002aqy.1 + 2 426 c.426C>T c.(424-426)TGC>TGT p.C142C NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 151 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 CGCGCCGCTGCGGCATGATCA 0.662 ADAMTS7 11173 broad.mit.edu 37 15 79083051 79083051 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr15:79083051G>A uc002bej.3 - 6 1200 c.989C>T c.(988-990)GCC>GTC p.A330V ADAMTS7_uc010und.1_Missense_Mutation_p.A330V|ADAMTS7_uc002bek.1_Missense_Mutation_p.A330V NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 330 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CAGGGGATGGGCATCCCCCTT 0.592 OR4F15 390649 broad.mit.edu 37 15 102358715 102358715 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr15:102358715G>A uc010uts.1 + 1 326 c.326G>A c.(325-327)GGC>GAC p.G109D NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GCTCTTGGGGGCACTGAGATG 0.458 SRL 6345 broad.mit.edu 37 16 4242554 4242554 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr16:4242554C>T uc002cvz.3 - 6 1035 c.1022G>A c.(1021-1023)CGC>CAC p.R341H SRL_uc002cvy.3_RNA NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN sarcalumenin 800 sarcoplasmic reticulum lumen GTP binding|GTPase activity ovary(3)|skin(2) 5 GGCGTGGATGCGGACCCGGAT 0.512 ZFP3 124961 broad.mit.edu 37 17 4995064 4995064 + Missense_Mutation SNP A G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr17:4995064A>G uc002gaq.2 + 2 390 c.265A>G c.(265-267)AAT>GAT p.N89D NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN zinc finger protein-3 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCGGGAGAATAATGAGAGTGA 0.468 ZNF287 57336 broad.mit.edu 37 17 16455757 16455757 + Missense_Mutation SNP T C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr17:16455757T>C uc002gqi.2 - 6 2152 c.1699A>G c.(1699-1701)AAT>GAT p.N567D NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 560 C2H2-type 8. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CCACATTCATTACATTTATAA 0.353 RAI1 10743 broad.mit.edu 37 17 17697187 17697187 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr17:17697187G>A uc002grm.2 + 3 1394 c.925G>A c.(925-927)GCC>ACC p.A309T RAI1_uc002grn.1_Missense_Mutation_p.A309T NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 309 Gln-rich. cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CCAAAACCTCGCCAAGTATCA 0.493 KRT37 8688 broad.mit.edu 37 17 39577227 39577227 + Missense_Mutation SNP T C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr17:39577227T>C uc002hwp.1 - 7 1300 c.1253A>G c.(1252-1254)AAT>AGT p.N418S uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 418 Tail. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GGAACAGGGATTGCAGGGGAG 0.547 STXBP4 252983 broad.mit.edu 37 17 53237217 53237217 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr17:53237217G>A uc002iuf.1 + 18 1814 c.1607G>A c.(1606-1608)CGC>CAC p.R536H STXBP4_uc010dcd.1_Missense_Mutation_p.R514H NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 536 cytoplasm calcium ion binding ovary(1) 1 AATCTATCTCGCTCAGAGGAG 0.438 CBX2 84733 broad.mit.edu 37 17 77758112 77758112 + Silent SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr17:77758112G>A uc002jxc.2 + 5 912 c.870G>A c.(868-870)CTG>CTA p.L290L NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 290 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCTGGACCTGAAGGTGAGGA 0.637 SPPL2B 56928 broad.mit.edu 37 19 2339146 2339146 + Missense_Mutation SNP A G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr19:2339146A>G uc002lvs.2 + 5 618 c.538A>G c.(538-540)ATC>GTC p.I180V SPPL2B_uc010dsw.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsy.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsz.1_Missense_Mutation_p.I180V|SPPL2B_uc002lvr.2_Missense_Mutation_p.I180V|SPPL2B_uc010dta.1_Missense_Mutation_p.I33V|SPPL2B_uc002lvu.2_5'Flank NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 180 Helical; (Potential). Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATCATCTTCATCATGGCTGT 0.632 FBXL12 54850 broad.mit.edu 37 19 9921852 9921852 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr19:9921852C>T uc002mme.2 - 3 943 c.701G>A c.(700-702)CGG>CAG p.R234Q FBXL12_uc002mmd.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmf.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmg.2_Missense_Mutation_p.R181Q|FBXL12_uc002mmh.2_Missense_Mutation_p.R181Q NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 234 LRR 6. protein binding lung(1)|kidney(1) 2 CACGGTCAGCCGGATCTTGCG 0.667 S1PR5 53637 broad.mit.edu 37 19 10625052 10625052 + Silent SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr19:10625052G>A uc002mot.1 - 2 693 c.636C>T c.(634-636)TAC>TAT p.Y212Y S1PR5_uc002mou.1_Silent_p.Y212Y NM_030760 NP_110387 Q9H228 S1PR5_HUMAN endothelial differentiation, sphingolipid 212 Helical; Name=5; (By similarity). integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|pancreas(1) 2 AGATGCGCGCGTAGAGTGCAC 0.697 USHBP1 83878 broad.mit.edu 37 19 17361108 17361108 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr19:17361108C>T uc002nfs.1 - 13 2151 c.2038G>A c.(2038-2040)GAA>AAA p.E680K USHBP1_uc002nfr.1_Missense_Mutation_p.E306K|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E616K NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 680 Potential. PDZ domain binding ovary(1) 1 GCAGTGGCTTCGAGCACCGCC 0.657 IRGC 56269 broad.mit.edu 37 19 44223763 44223763 + Silent SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr19:44223763C>T uc002oxh.2 + 2 1200 c.1053C>T c.(1051-1053)TCC>TCT p.S351S NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 351 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CCCAGTCGTCCGACGGCGCCA 0.657 BCAM 4059 broad.mit.edu 37 19 45322375 45322375 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr19:45322375G>A uc002ozu.2 + 11 1443 c.1399G>A c.(1399-1401)GAC>AAC p.D467N BCAM_uc002ozt.1_Missense_Mutation_p.D467N NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 467 Extracellular (Potential).|Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GAGGGAAGGAGACGAAGTCAC 0.597 RELB 5971 broad.mit.edu 37 19 45515222 45515222 + Silent SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr19:45515222C>T uc002paj.1 + 5 318 c.192C>T c.(190-192)AAC>AAT p.N64N NM_006509 NP_006500 Q01201 RELB_HUMAN reticuloendotheliosis viral oncogene homolog B 64 Leucine-zipper. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) TCAAGGAGAACGGCTTCGGCC 0.577 SPATS2L 26010 broad.mit.edu 37 2 201332021 201332021 + Silent SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr2:201332021C>T uc002uvn.3 + 10 1208 c.856C>T c.(856-858)CTG>TTG p.L286L SPATS2L_uc010fst.2_Silent_p.L286L|SPATS2L_uc002uvo.3_Silent_p.L226L|SPATS2L_uc002uvp.3_Silent_p.L286L|SPATS2L_uc002uvq.3_Silent_p.L217L|SPATS2L_uc002uvr.3_Silent_p.L286L|SPATS2L_uc010zhc.1_Silent_p.L316L NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 286 Potential. cytoplasm|nucleolus ovary(2)|pancreas(1) 3 AGTGGAAATCCTGACTGCTCG 0.438 RAPH1 65059 broad.mit.edu 37 2 204320201 204320201 + Nonsense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr2:204320201G>A uc002vad.2 - 9 1486 c.1261C>T c.(1261-1263)CGA>TGA p.R421* RAPH1_uc002vae.2_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.2_Nonsense_Mutation_p.R473* NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 421 PH. cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 CCAGATGCTCGCAAGAGAAAA 0.383 DGKD 8527 broad.mit.edu 37 2 234344488 234344488 + Missense_Mutation SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr2:234344488G>A uc002vui.1 + 6 623 c.611G>A c.(610-612)CGC>CAC p.R204H DGKD_uc002vuj.1_Missense_Mutation_p.R160H|DGKD_uc010fyh.1_Missense_Mutation_p.R71H|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Missense_Mutation_p.R71H NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 204 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GCCCACAAGCGCTGTGCTGTG 0.507 COL6A3 1293 broad.mit.edu 37 2 238305417 238305417 + Missense_Mutation SNP A G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr2:238305417A>G uc002vwl.2 - 2 329 c.44T>C c.(43-45)CTC>CCC p.L15P COL6A3_uc002vwo.2_Missense_Mutation_p.L15P|COL6A3_uc010znj.1_Missense_Mutation_p.L15P|COL6A3_uc002vwq.2_Missense_Mutation_p.L15P|COL6A3_uc002vwr.2_Missense_Mutation_p.L15P|COL6A3_uc010znk.1_Missense_Mutation_p.L15P NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 15 axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGAGAGAAAGAGGCAAAAGAC 0.423 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G C C rs145412486 by1000genomes TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr20:29628236G>C uc010ztl.1 + 3 180 c.148G>C c.(148-150)GCT>CCT p.A50P FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GGGGAAAATGGCTTTGTTGGC 0.333 ID1 3397 broad.mit.edu 37 20 30193855 30193855 + Splice_Site SNP G A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr20:30193855G>A uc002wwg.1 + 2 526 c.427_splice c.e2-1 p.A143_splice ID1_uc002wwh.1_3'UTR|hsa-mir-3193|MI0014238_5'Flank NM_002165 NP_002156 P41134 ID1_HUMAN inhibitor of DNA binding 1 isoform a angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway cytoplasm protein binding ovary(1) 1 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) CGTTTTCACAGGCGGCATGCG 0.652 C21orf63 59271 broad.mit.edu 37 21 33876254 33876254 + Missense_Mutation SNP G T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr21:33876254G>T uc002ypr.1 + 7 1288 c.878G>T c.(877-879)AGC>ATC p.S293I C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.S290I|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.S198I|C21orf63_uc011adq.1_5'UTR NM_058187 NP_478067 P58658 CU063_HUMAN hypothetical protein LOC59271 precursor 293 Extracellular (Potential). integral to membrane sugar binding ovary(2)|pancreas(1) 3 TTCGACCCAAGCGGATCGAAG 0.433 C21orf63 59271 broad.mit.edu 37 21 33876277 33876277 + Missense_Mutation SNP G T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr21:33876277G>T uc002ypr.1 + 7 1311 c.901G>T c.(901-903)GAT>TAT p.D301Y C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.D298Y|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.D206Y|C21orf63_uc011adq.1_5'UTR NM_058187 NP_478067 P58658 CU063_HUMAN hypothetical protein LOC59271 precursor 301 Extracellular (Potential). integral to membrane sugar binding ovary(2)|pancreas(1) 3 TCTGAGGAAAGATGGAATTCT 0.398 NCAPG 64151 broad.mit.edu 37 4 17825349 17825349 + Missense_Mutation SNP A G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr4:17825349A>G uc003gpp.2 + 9 1515 c.1339A>G c.(1339-1341)AGA>GGA p.R447G NCAPG_uc011bxj.1_5'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 447 HEAT 7. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) TCTTGTTGAAAGACTACTCCA 0.323 GC 2638 broad.mit.edu 37 4 72620754 72620754 + Missense_Mutation SNP G C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr4:72620754G>C uc003hge.2 - 9 1258 c.1105C>G c.(1105-1107)CTA>GTA p.L369V GC_uc003hgd.2_Missense_Mutation_p.L247V|GC_uc010iie.2_Missense_Mutation_p.L369V|GC_uc010iif.2_Missense_Mutation_p.L388V NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 369 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AGGCTTTTTAGGGTTGGCTCA 0.378 C4orf22 255119 broad.mit.edu 37 4 81504250 81504250 + Silent SNP G A A rs141410009 by1000genomes TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr4:81504250G>A uc003hmf.2 + 3 295 c.246G>A c.(244-246)ACG>ACA p.T82T C4orf22_uc010ijp.2_Silent_p.T82T NM_152770 NP_689983 Q6V702 CD022_HUMAN hypothetical protein LOC255119 82 skin(2) 2 TTTACAGGACGCTAACAAGTG 0.383 PRKG2 5593 broad.mit.edu 37 4 82125882 82125882 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr4:82125882C>T uc003hmh.2 - 1 334 c.320G>A c.(319-321)CGG>CAG p.R107Q PRKG2_uc011cch.1_Missense_Mutation_p.R107Q NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 107 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 AGAGGTCTTCCGGTGGACCTC 0.562 ADCY2 108 broad.mit.edu 37 5 7709333 7709333 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr5:7709333C>T uc003jdz.1 + 10 1478 c.1411C>T c.(1411-1413)CGG>TGG p.R471W ADCY2_uc011cmo.1_Missense_Mutation_p.R291W NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 471 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGGAGAACGACGGAGCCCCCA 0.587 PIK3R1 5295 broad.mit.edu 37 5 67589298 67589298 + Missense_Mutation SNP C A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr5:67589298C>A uc003jva.2 + 10 1846 c.1286C>A c.(1285-1287)TCC>TAC p.S429Y PIK3R1_uc003jvb.2_Missense_Mutation_p.S429Y|PIK3R1_uc003jvc.2_Missense_Mutation_p.S129Y|PIK3R1_uc003jvd.2_Missense_Mutation_p.S159Y|PIK3R1_uc003jve.2_Missense_Mutation_p.S108Y|PIK3R1_uc011crb.1_Missense_Mutation_p.S99Y NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 429 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TATCCAGTATCCAAATACCAA 0.318 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) PCDHB12 56124 broad.mit.edu 37 5 140588488 140588488 + Silent SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr5:140588488C>T uc003liz.2 + 1 198 c.9C>T c.(7-9)AAC>AAT p.N3N PCDHB12_uc011dak.1_Translation_Start_Site NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 3 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATGGAAAACGGAGGGGCAG 0.493 FOXI1 2299 broad.mit.edu 37 5 169533358 169533358 + Missense_Mutation SNP G C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr5:169533358G>C uc003mai.3 + 1 442 c.397G>C c.(397-399)GCC>CCC p.A133P FOXI1_uc003maj.3_Missense_Mutation_p.A133P NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 133 Fork-head. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCTCTCATCGCCATGGCCAT 0.642 Pendred_syndrome BEND3 57673 broad.mit.edu 37 6 107391897 107391897 + Silent SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr6:107391897C>T uc003prs.2 - 5 1148 c.498G>A c.(496-498)TCG>TCA p.S166S NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 166 ovary(3) 3 GCCGCAGTGACGAGGGGCTGT 0.567 ANKIB1 54467 broad.mit.edu 37 7 91991520 91991520 + Missense_Mutation SNP T A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr7:91991520T>A uc003ulw.2 + 10 1795 c.1419T>A c.(1417-1419)CAT>CAA p.H473Q NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 473 IBR-type; degenerate. protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTGAAGCACATGAGCCTTGTG 0.343 PRSS37 136242 broad.mit.edu 37 7 141536273 141536273 + Missense_Mutation SNP G T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr7:141536273G>T uc003vws.1 - 5 1002 c.630C>A c.(628-630)TTC>TTA p.F210L PRSS37_uc011krk.1_Missense_Mutation_p.F197L|PRSS37_uc011krl.1_Missense_Mutation_p.F209L|PRSS37_uc003vwt.1_Missense_Mutation_p.F197L NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN protease, serine, 37 precursor 210 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity skin(1) 1 CCCCTCCCATGAAGTGCCCCA 0.458 DOCK5 80005 broad.mit.edu 37 8 25199986 25199986 + Missense_Mutation SNP G C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr8:25199986G>C uc003xeg.2 + 25 2717 c.2580G>C c.(2578-2580)ATG>ATC p.M860I DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.M574I|DOCK5_uc003xei.2_Missense_Mutation_p.M430I|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 860 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTAACTGCATGACCAAGATAG 0.373 POTEA 340441 broad.mit.edu 37 8 43171085 43171085 + Missense_Mutation SNP G C C TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr8:43171085G>C uc003xpz.1 + 7 999 c.956G>C c.(955-957)AGT>ACT p.S319T POTEA_uc003xqa.1_Missense_Mutation_p.S273T NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 319 ovary(1) 1 CTTAAAGGAAGTGAAAATAGT 0.303 ADAMTSL1 92949 broad.mit.edu 37 9 18574217 18574217 + Missense_Mutation SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr9:18574217C>T uc003zne.3 + 4 554 c.427C>T c.(427-429)CGT>TGT p.R143C ADAMTSL1_uc003znb.2_Missense_Mutation_p.R143C|ADAMTSL1_uc003znc.3_Missense_Mutation_p.R143C NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 143 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) AGATGGTACGCGTTGCTATAC 0.438 IFNW1 3467 broad.mit.edu 37 9 21141168 21141168 + Silent SNP C T T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr9:21141168C>T uc003zol.1 - 1 977 c.402G>A c.(400-402)GGG>GGA p.G134G NM_002177 NP_002168 P05000 IFNW1_HUMAN interferon, omega 1 precursor 134 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding 0 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TGCTAATTGCCCCAGCAGATT 0.527 ST6GALNAC4 27090 broad.mit.edu 37 9 130674960 130674960 + Splice_Site SNP C A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chr9:130674960C>A uc004bss.2 - 4 475 c.199_splice c.e4-1 p.P67_splice ST6GALNAC4_uc004bst.2_Splice_Site NM_175039 NP_778204 Q9H4F1 SIA7D_HUMAN sialyltransferase 7D isoform a glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity 0 GGACCAGCGGCTGCAGGGCAG 0.632 ATP11C 286410 broad.mit.edu 37 X 138867417 138867417 + Missense_Mutation SNP C A A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chrX:138867417C>A uc004faz.2 - 16 1742 c.1643G>T c.(1642-1644)CGA>CTA p.R548L ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.R548L NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 548 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) ACTCATACGTCGCCGGACAGC 0.338 TSPY4 728395 broad.mit.edu 37 Y 9195471 9195471 + Missense_Mutation SNP T G G TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 83b1f0ed-3277-4bed-bfaa-a45952e6d833 dd9c946a-f5bf-4aa0-abfd-e56eb172f68e g.chrY:9195471T>G uc004frr.1 + 1 66 c.20T>G c.(19-21)CTG>CGG p.L7R FAM197Y2_uc004frp.1_Intron|TSPY4_uc004frq.1_Missense_Mutation_p.L7R NM_001077697 NP_001071165 P0CW01 TSPYA_HUMAN testis specific protein, Y-linked 3 7 cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus 0 GAGGGCTCGCTGACCTACTGG 0.716