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_status validation_method validation_tumor_sample validation_alt_allele filter PARK7 11315 broad.mit.edu 37 1 8037728 8037728 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:8037728G>T uc001aou.3 + 6 444 c.339G>T c.(337-339)TTG>TTT p.L113F PARK7_uc001aox.3_Missense_Mutation_p.L113F|PARK7_uc001aov.3_Missense_Mutation_p.L93F NM_001123377 NP_001116849 Q99497 PARK7_HUMAN Parkinson disease protein 7 113 autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization mitochondrion|nucleus mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity 0 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649) CTGCTCTGTTGGCTCATGAAA 0.284 4 120 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11318609 11318609 + Missense_Mutation SNP G C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:11318609G>C uc001asd.2 - 3 325 c.204C>G c.(202-204)AAC>AAG p.N68K NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 68 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 AAATGTGATGGTTCAGTTGGT 0.413 68 182 --- --- --- --- PASS PRAMEF13 400736 broad.mit.edu 37 1 13448272 13448272 + Silent SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:13448272G>A uc010obi.1 - 4 1306 c.1203C>T c.(1201-1203)ACC>ACT p.T401T PRAMEF14_uc009vnt.1_Silent_p.T353T NM_001024661 NP_001019832 Q5VWM6 PRA13_HUMAN PRAME family member 13 401 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGCCCACTGGTGTGGCGCA 0.557 31 78 --- --- --- --- PASS PADI6 353238 broad.mit.edu 37 1 17708501 17708501 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:17708501G>T uc001bak.1 + 6 593 c.593G>T c.(592-594)GGC>GTC p.G198V NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 190 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AATGTCCAAGGCCCCAGCTGT 0.493 27 81 --- --- --- --- PASS ARHGEF10L 55160 broad.mit.edu 37 1 18023729 18023729 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:18023729C>T uc001ban.2 + 29 3853 c.3694C>T c.(3694-3696)CGC>TGC p.R1232C ARHGEF10L_uc001bao.2_Missense_Mutation_p.R1193C|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R1188C|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R993C|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R1005C|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R935C|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.R256C NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 1232 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CGACGCCCACCGCAAGGAGAT 0.682 3 64 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19477075 19477075 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:19477075C>G uc001bbi.2 - 49 7430 c.7426G>C c.(7426-7428)GAG>CAG p.E2476Q UBR4_uc001bbk.1_Missense_Mutation_p.E130Q NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2476 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGTACCTCTCCAGGACAGTT 0.522 4 183 --- --- --- --- PASS PCSK9 255738 broad.mit.edu 37 1 55524240 55524240 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:55524240G>A uc001cyf.1 + 9 1714 c.1423G>A c.(1423-1425)GCC>ACC p.A475T PCSK9_uc010oom.1_RNA NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 475 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 CACAGCCGTCGCCCGCTGCGC 0.637 7 38 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55545265 55545265 + Silent SNP A G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:55545265A>G uc001cyg.3 - 57 6666 c.6666T>C c.(6664-6666)CAT>CAC p.H2222H NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 2382 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 CTACCTCCTCATGGAGGGGCA 0.448 56 164 --- --- --- --- PASS GIPC2 54810 broad.mit.edu 37 1 78560690 78560690 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:78560690C>G uc001dik.2 + 3 671 c.481C>G c.(481-483)CAT>GAT p.H161D NM_017655 NP_060125 Q8TF65 GIPC2_HUMAN PDZ domain protein GIPC2 161 PDZ. cytoplasm ovary(1) 1 TGTTGGGGATCATATTGAATC 0.313 5 206 --- --- --- --- PASS GPR61 83873 broad.mit.edu 37 1 110085901 110085901 + Missense_Mutation SNP A G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:110085901A>G uc001dxy.2 + 2 940 c.257A>G c.(256-258)GAC>GGC p.D86G NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 86 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TGCCTGGTGGACCTGCTGGCT 0.622 54 182 --- --- --- --- PASS RORC 6097 broad.mit.edu 37 1 151787406 151787406 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:151787406G>A uc001ezh.2 - 5 902 c.794C>T c.(793-795)GCC>GTC p.A265V RORC_uc001ezg.2_Missense_Mutation_p.A244V|RORC_uc010pdo.1_Missense_Mutation_p.A319V|RORC_uc010pdp.1_Missense_Mutation_p.A265V NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 265 Hinge (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGTCAGGGAGGCATAGGGTGC 0.602 13 45 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152283373 152283373 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:152283373C>T uc001ezu.1 - 3 4025 c.3989G>A c.(3988-3990)GGC>GAC p.G1330D uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1330 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGATGAGTGCCTGATTGTCT 0.423 Ichthyosis 102 366 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156639850 156639850 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:156639850G>T uc001fpq.2 - 4 4263 c.4130C>A c.(4129-4131)CCT>CAT p.P1377H NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1377 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGAAGAAAAGGTGCCTCAGT 0.517 31 108 --- --- --- --- PASS PVRL4 81607 broad.mit.edu 37 1 161046204 161046204 + Missense_Mutation SNP T G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:161046204T>G uc001fxo.2 - 4 1091 c.792A>C c.(790-792)GAA>GAC p.E264D PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'UTR NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 264 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCATAGCTCCTTCTCTGCCAA 0.552 38 108 --- --- --- --- PASS DUSP12 11266 broad.mit.edu 37 1 161726673 161726673 + Missense_Mutation SNP A G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:161726673A>G uc001gbo.2 + 6 970 c.959A>G c.(958-960)CAT>CGT p.H320R DUSP12_uc001gbp.2_Missense_Mutation_p.H190R NM_007240 NP_009171 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 320 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1) 1 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TTTCAAATACATAAGAATAGA 0.388 39 122 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247588376 247588376 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr1:247588376C>T uc001icr.2 + 5 1769 c.1631C>T c.(1630-1632)ACG>ATG p.T544M NLRP3_uc001ics.2_Missense_Mutation_p.T544M|NLRP3_uc001icu.2_Missense_Mutation_p.T544M|NLRP3_uc001icw.2_Missense_Mutation_p.T544M|NLRP3_uc001icv.2_Missense_Mutation_p.T544M|NLRP3_uc010pyw.1_Missense_Mutation_p.T542M|NLRP3_uc001ict.1_Missense_Mutation_p.T542M NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 544 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAAGGAAGGACGAACGTTCCA 0.473 14 55 --- --- --- --- PASS SMPD4 55627 broad.mit.edu 37 2 130914906 130914906 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:130914906C>A uc002tqq.1 - 12 1652 c.1132G>T c.(1132-1134)GCC>TCC p.A378S SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.A71S|SMPD4_uc010yzy.1_Missense_Mutation_p.A127S|SMPD4_uc010yzz.1_Missense_Mutation_p.A42S|SMPD4_uc002tqr.1_Missense_Mutation_p.A349S|SMPD4_uc002tqs.1_Missense_Mutation_p.A246S|SMPD4_uc002tqt.1_Missense_Mutation_p.A227S|SMPD4_uc010zaa.1_Missense_Mutation_p.A236S|SMPD4_uc010zab.1_Missense_Mutation_p.A276S|SMPD4_uc010zac.1_Missense_Mutation_p.A119S|SMPD4_uc010zad.1_Intron NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 339 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) TTGGCAAAGGCGTGCAGGTGC 0.657 5 10 --- --- --- --- PASS ACMSD 130013 broad.mit.edu 37 2 135616876 135616876 + Silent SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:135616876C>A uc002ttz.2 + 3 215 c.148C>A c.(148-150)CGA>AGA p.R50R ACMSD_uc002tua.2_Nonsense_Mutation_p.C8* NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 50 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.115) CAGAGTGGTGCGAGAGAATTG 0.423 19 52 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136587206 136587206 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:136587206C>T uc002tuu.1 - 3 772 c.761G>A c.(760-762)TGC>TAC p.C254Y NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 254 Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCATTTTGGCATTCATAAGA 0.423 32 151 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149247999 149247999 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:149247999C>G uc002twm.3 + 12 5087 c.4099C>G c.(4099-4101)CCA>GCA p.P1367A MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.P1367A|MBD5_uc002two.2_Missense_Mutation_p.P625A|MBD5_uc002twp.2_Missense_Mutation_p.P417A NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1367 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CCTAAGGAACCCAGACTCCCC 0.453 30 119 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155711815 155711815 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:155711815G>T uc002tyv.1 + 3 1691 c.1496G>T c.(1495-1497)CGC>CTC p.R499L KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 499 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) AACTCTGATCGCTTCACATAA 0.408 5 22 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170092442 170092442 + Missense_Mutation SNP T C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:170092442T>C uc002ues.2 - 29 5041 c.4828A>G c.(4828-4830)AGA>GGA p.R1610G NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1610 LDL-receptor class B 13.|Extracellular (Potential). 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 ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 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) TAGAGCAGTCTGTTGGGGTAG 0.498 21 83 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179474495 179474495 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:179474495G>T uc010zfg.1 - 221 44175 c.43951C>A c.(43951-43953)CAA>AAA p.Q14651K uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q8346K|TTN_uc010zfi.1_Missense_Mutation_p.Q8279K|TTN_uc010zfj.1_Missense_Mutation_p.Q8154K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15578 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACGGAATTGGTACTCTTTC 0.473 168 492 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179571596 179571596 + Silent SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:179571596G>A uc010zfg.1 - 98 25619 c.25395C>T c.(25393-25395)GTC>GTT p.V8465V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V5126V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9392 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACTTTCTACGACTCTGATAC 0.353 4 22 --- --- --- --- PASS UGT1A8 54576 broad.mit.edu 37 2 234526420 234526420 + Missense_Mutation SNP G C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr2:234526420G>C uc002vup.2 + 1 130 c.67G>C c.(67-69)GCT>CCT p.A23P UGT1A8_uc010zmv.1_Missense_Mutation_p.A23P NM_019076 NP_061949 Q9HAW9 UD18_HUMAN UDP glycosyltransferase 1 family, polypeptide A8 23 drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding ovary(2) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) CTGTGGCTTTGCTGAGGCAGG 0.587 16 97 --- --- --- --- PASS UBE2E2 7325 broad.mit.edu 37 3 23541139 23541139 + Missense_Mutation SNP A T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr3:23541139A>T uc003ccg.2 + 4 448 c.268A>T c.(268-270)ACT>TCT p.T90S UBE2E2_uc010hfc.2_Intron NM_152653 NP_689866 Q96LR5 UB2E2_HUMAN ubiquitin-conjugating enzyme E2E 2 90 ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination nucleolus ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity 0 ATGGAGGTCAACTATATTGGG 0.398 27 54 --- --- --- --- PASS TBC1D23 55773 broad.mit.edu 37 3 100018112 100018112 + Silent SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr3:100018112C>T uc003dtt.2 + 10 1206 c.1029C>T c.(1027-1029)TGC>TGT p.C343C TBC1D23_uc003dts.2_Silent_p.C343C NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 343 Rhodanese. intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 TGGTGGATTGCCGTCCTGCAG 0.378 4 186 --- --- --- --- PASS ZBTB11 27107 broad.mit.edu 37 3 101383876 101383876 + Nonsense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr3:101383876G>A uc003dve.3 - 4 1785 c.1555C>T c.(1555-1557)CGA>TGA p.R519* NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTGTGTAGTCGAATATATGCC 0.428 56 415 --- --- --- --- PASS TRIM42 287015 broad.mit.edu 37 3 140401373 140401373 + Silent SNP C T T rs143388392 byFrequency TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr3:140401373C>T uc003eto.1 + 2 602 c.411C>T c.(409-411)AAC>AAT p.N137N NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 137 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 TACCAGCCAACAGTCACCTGG 0.577 24 152 --- --- --- --- PASS AADACL2 344752 broad.mit.edu 37 3 151463350 151463350 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr3:151463350C>A uc003ezc.2 + 4 605 c.485C>A c.(484-486)GCT>GAT p.A162D AADACL2_uc010hvn.2_Translation_Start_Site NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 162 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GATGGCCTTGCTGCAGTCAAA 0.408 12 472 --- --- --- --- PASS P2RY1 5028 broad.mit.edu 37 3 152554155 152554155 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr3:152554155G>A uc003ezq.2 + 1 1420 c.584G>A c.(583-585)CGC>CAC p.R195H NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 195 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) ACCGGGGTCCGCAAAAACAAA 0.522 6 164 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 73986694 73986694 + Silent SNP A G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr4:73986694A>G uc003hgp.2 - 20 3870 c.3753T>C c.(3751-3753)AAT>AAC p.N1251N ANKRD17_uc003hgo.2_Silent_p.N1138N|ANKRD17_uc003hgq.2_Silent_p.N1000N|ANKRD17_uc003hgr.2_Silent_p.N1250N|ANKRD17_uc011cbd.1_Silent_p.N816N NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1251 ANK 21. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CAGTGTTCCGATTGGTTTCTA 0.438 4 242 --- --- --- --- PASS CTSO 1519 broad.mit.edu 37 4 156849517 156849517 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr4:156849517G>A uc003ipg.2 - 7 951 c.902C>T c.(901-903)GCC>GTC p.A301V NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 301 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) TTTGACATGGGCATAACCATC 0.348 4 95 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 163032473 163032473 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr4:163032473C>T uc003iqh.2 - 2 512 c.76G>A c.(76-78)GGA>AGA p.G26R FSTL5_uc003iqi.2_Missense_Mutation_p.G26R|FSTL5_uc010iqv.2_Missense_Mutation_p.G26R NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 26 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCATATCCTCCTTCTTTGGTT 0.408 46 154 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13919410 13919410 + Nonsense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr5:13919410G>A uc003jfd.2 - 7 892 c.850C>T c.(850-852)CGA>TGA p.R284* DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 284 Potential.|Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGCTCCGCTCGTGGCCCAACG 0.527 Kartagener_syndrome 9 367 --- --- --- --- PASS CDKL3 51265 broad.mit.edu 37 5 133644403 133644403 + Silent SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr5:133644403C>T uc003kzf.3 - 8 1016 c.897G>A c.(895-897)CTG>CTA p.L299L CDKL3_uc011cxm.1_Silent_p.L106L|CDKL3_uc011cxn.1_RNA|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Silent_p.L4L|CDKL3_uc011cxp.1_Silent_p.L4L|CDKL3_uc011cxq.1_Silent_p.L106L|CDKL3_uc003kzg.3_Silent_p.L299L NM_001113575 NP_001107047 Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 isoform 1 299 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTTAGCTTTCAGTTCTGGCA 0.299 10 24 --- --- --- --- PASS RPP40 10799 broad.mit.edu 37 6 5004203 5004203 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr6:5004203G>A uc003mwl.2 - 1 69 c.34C>T c.(34-36)CGG>TGG p.R12W uc003mwn.1_Intron|RPP40_uc003mwm.2_Missense_Mutation_p.R12W NM_006638 NP_006629 O75818 RPP40_HUMAN ribonuclease P 40kDa subunit 12 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 Ovarian(93;0.11) all_hematologic(90;0.0895) AGTAAGTGCCGCGGCGCCTCC 0.672 OREG0017160 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 56 --- --- --- --- PASS HIST1H4B 8366 broad.mit.edu 37 6 26027399 26027399 + Missense_Mutation SNP G C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr6:26027399G>C uc003nfr.2 - 1 82 c.82C>G c.(82-84)CAA>GAA p.Q28E NM_003544 NP_003535 P62805 H4_HUMAN histone cluster 1, H4b 28 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 GTGATGCCTTGGATGTTATCC 0.542 15 112 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47681951 47681951 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr6:47681951G>A uc003oza.1 + 6 1228 c.970G>A c.(970-972)GTT>ATT p.V324I GPR115_uc003oyz.1_Missense_Mutation_p.V381I|GPR115_uc003ozb.1_Missense_Mutation_p.V322I NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 324 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 GCTATCAGTGGTTTTACCAGA 0.468 37 164 --- --- --- --- PASS LCA5 167691 broad.mit.edu 37 6 80203424 80203424 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr6:80203424C>A uc003pix.2 - 4 1199 c.764G>T c.(763-765)CGA>CTA p.R255L LCA5_uc003piy.2_Missense_Mutation_p.R255L|LCA5_uc011dyq.1_RNA NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 255 Potential. protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) AAGCAACTGTCGTTGGAAACT 0.338 16 107 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20738138 20738138 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr7:20738138C>T uc003suw.3 + 8 1330 c.784C>T c.(784-786)CCA>TCA p.P262S ABCB5_uc010kuh.2_Missense_Mutation_p.P707S NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 262 Helical; (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AACTGTTCATCCAGTATTTTC 0.333 16 69 --- --- --- --- PASS NT5C3 51251 broad.mit.edu 37 7 33061712 33061712 + Splice_Site SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr7:33061712C>G uc003tdk.2 - 4 400 c.323_splice c.e4-1 p.N108_splice AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Splice_Site_p.N69_splice|NT5C3_uc003tdj.2_Splice_Site_p.N69_splice NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) TCAATGATATCTAAAGATAGA 0.254 15 38 --- --- --- --- PASS ELN 2006 broad.mit.edu 37 7 73461084 73461084 + Silent SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr7:73461084C>G uc003tzw.2 + 12 721 c.630C>G c.(628-630)GCC>GCG p.A210A RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.A179A|ELN_uc003tzn.2_Silent_p.A210A|ELN_uc003tzz.2_Silent_p.A188A|ELN_uc003tzo.2_Silent_p.A210A|ELN_uc003tzp.2_Silent_p.A166A|ELN_uc003tzq.2_Silent_p.A107A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A210A|ELN_uc003tzt.2_Silent_p.A215A|ELN_uc003tzu.2_Silent_p.A215A|ELN_uc003tzv.2_Silent_p.A200A|ELN_uc003tzx.2_Silent_p.A200A|ELN_uc011kff.1_Silent_p.A210A|ELN_uc003tzy.2_Silent_p.A205A NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 210 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CCATCAAGGCCCCCAAGCTGC 0.433 T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 13 47 --- --- --- --- PASS GPC2 221914 broad.mit.edu 37 7 99769784 99769784 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr7:99769784C>A uc003utv.2 - 6 1117 c.949G>T c.(949-951)GCC>TCC p.A317S GPC2_uc010lgr.2_RNA NM_152742 NP_689955 Q8N158 GPC2_HUMAN glypican 2 precursor 317 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|pancreas(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATGGACTCGGCCGTCAGCTCA 0.552 25 67 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121753257 121753257 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr7:121753257C>A uc003vka.2 - 10 1289 c.1193G>T c.(1192-1194)TGT>TTT p.C398F AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.C398F|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 398 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) GTCAATGGAACACATCAGGAT 0.413 25 80 --- --- --- --- PASS CNOT4 4850 broad.mit.edu 37 7 135099078 135099078 + Splice_Site SNP A C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr7:135099078A>C uc003vsv.1 - 5 868 c.561_splice c.e5+1 p.K187_splice CNOT4_uc003vss.2_Splice_Site_p.K187_splice|CNOT4_uc011kpz.1_Splice_Site_p.K187_splice|CNOT4_uc003vst.2_Splice_Site_p.K187_splice|CNOT4_uc003vsu.1_Splice_Site_p.K187_splice|CNOT4_uc011kpy.1_Splice_Site_p.K187_splice NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 GGACTATATTACCTTAAGTGT 0.358 6 257 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151879142 151879142 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr7:151879142G>A uc003wla.2 - 36 6022 c.5803C>T c.(5803-5805)CCC>TCC p.P1935S MLL3_uc003wkz.2_Missense_Mutation_p.P996S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1935 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTTGAAGGGGCCTAGATACC 0.463 N medulloblastoma 45 148 --- --- --- --- PASS DEFA5 1670 broad.mit.edu 37 8 6914113 6914113 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr8:6914113C>T uc003wra.1 - 1 147 c.107G>A c.(106-108)GGG>GAG p.G36E NM_021010 NP_066290 Q01523 DEF5_HUMAN defensin, alpha 5 preproprotein 36 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GTTGTCTTCCCCAGACTGCTT 0.527 41 164 --- --- --- --- PASS PRSS55 203074 broad.mit.edu 37 8 10383111 10383111 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr8:10383111G>A uc003wta.2 + 1 31 c.16G>A c.(16-18)GTG>ATG p.V6M uc010lru.2_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 6 proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 CCTGTTCTCAGTGTTGCTGCT 0.652 20 100 --- --- --- --- PASS ZNF395 55893 broad.mit.edu 37 8 28209072 28209072 + Silent SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr8:28209072C>G uc003xgq.2 - 7 1261 c.1173G>C c.(1171-1173)GGG>GGC p.G391G ZNF395_uc003xgt.2_Silent_p.G391G|ZNF395_uc003xgr.2_Silent_p.G391G|ZNF395_uc003xgs.2_Silent_p.G391G NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 391 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TGCTGAGAGCCCCTGAGGGCA 0.627 54 144 --- --- --- --- PASS SDC2 6383 broad.mit.edu 37 8 97620689 97620689 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr8:97620689G>T uc003yhv.1 + 4 1051 c.433G>T c.(433-435)GTC>TTC p.V145F SDC2_uc011lgu.1_Missense_Mutation_p.V116F NM_002998 NP_002989 P34741 SDC2_HUMAN syndecan 2 precursor 145 Helical; (Potential). integral to plasma membrane cytoskeletal protein binding|PDZ domain binding ovary(2) 2 Breast(36;3.41e-05) Sargramostim(DB00020) ACGGACAGAAGTCCTAGCAGG 0.478 24 117 --- --- --- --- PASS EFR3A 23167 broad.mit.edu 37 8 132999873 132999873 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr8:132999873C>A uc003yte.2 + 18 2190 c.1989C>A c.(1987-1989)AAC>AAA p.N663K NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 663 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTCTGACCAACAAGATTGCAG 0.373 7 27 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144943084 144943084 + Silent SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr8:144943084G>T uc003zaa.1 - 1 4351 c.4338C>A c.(4336-4338)ACC>ACA p.T1446T NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1446 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGCCACCGCGGTGTGGTCGT 0.622 3 54 --- --- --- --- PASS MPDZ 8777 broad.mit.edu 37 9 13183448 13183448 + Missense_Mutation SNP T C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr9:13183448T>C uc010mia.1 - 18 2675 c.2618A>G c.(2617-2619)TAT>TGT p.Y873C MPDZ_uc010mhy.2_Missense_Mutation_p.Y873C|MPDZ_uc010mhz.2_Missense_Mutation_p.Y873C|MPDZ_uc011lmn.1_Missense_Mutation_p.Y873C|MPDZ_uc003zlb.3_Missense_Mutation_p.Y873C NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 873 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GGAAGAACCATAGTTCAGGCC 0.403 9 26 --- --- --- --- PASS ACO1 48 broad.mit.edu 37 9 32408522 32408522 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr9:32408522G>A uc003zqw.3 + 4 432 c.277G>A c.(277-279)GCT>ACT p.A93T ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.A93T|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 93 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) GGGTGTGCCCGCTGTGGTTGA 0.408 39 281 --- --- --- --- PASS UNC13B 10497 broad.mit.edu 37 9 35403942 35403942 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr9:35403942G>A uc003zwq.2 + 39 4980 c.4688G>A c.(4687-4689)CGG>CAG p.R1563Q UNC13B_uc003zwr.2_Missense_Mutation_p.R1582Q|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1563 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ACCATTCTCCGGATTTTATCT 0.552 23 621 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84606081 84606081 + Silent SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr9:84606081G>A uc004amn.2 + 4 743 c.696G>A c.(694-696)AAG>AAA p.K232K NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 232 Pro-rich. integral to membrane 0 TGGATTCCAAGTTCCCCATAG 0.537 85 228 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90497821 90497821 + Silent SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr9:90497821C>T uc004app.3 + 1 50 c.15C>T c.(13-15)GTC>GTT p.V5V C9orf79_uc004apo.1_Silent_p.V5V NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 5 integral to membrane ovary(3) 3 GAAATCTCGTCATCCCTCTAG 0.607 18 51 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 9 98775342 98775342 + Nonsense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr9:98775342G>T uc010msa.1 + 4 2329 c.1453G>T c.(1453-1455)GAA>TAA p.E485* uc011lun.1_Intron RecName: Full=Uncharacterized protein C9orf102; GACTCTGTGTGAAAAAGCACC 0.393 21 46 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38343662 38343662 + Missense_Mutation SNP G C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr10:38343662G>C uc001izh.2 + 5 785 c.607G>C c.(607-609)GAG>CAG p.E203Q ZNF33A_uc001izg.2_Missense_Mutation_p.E204Q|ZNF33A_uc010qev.1_Missense_Mutation_p.E210Q|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 203 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 GAGTCATCATGAGGAGACTTT 0.348 27 108 --- --- --- --- PASS PIK3AP1 118788 broad.mit.edu 37 10 98383279 98383279 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr10:98383279C>A uc001kmq.2 - 11 1813 c.1685G>T c.(1684-1686)AGT>ATT p.S562I PIK3AP1_uc001kmo.2_Missense_Mutation_p.S161I|PIK3AP1_uc001kmp.2_Missense_Mutation_p.S384I NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 562 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CCGCTCTTGACTTTTTTCTGC 0.343 88 314 --- --- --- --- PASS EIF3A 8661 broad.mit.edu 37 10 120802059 120802059 + Silent SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr10:120802059G>A uc001ldu.2 - 19 3119 c.2973C>T c.(2971-2973)AAC>AAT p.N991N EIF3A_uc010qsu.1_Silent_p.N957N|EIF3A_uc009xzg.1_Silent_p.N30N NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 991 7.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CATCATCTGTGTTACGCCAGG 0.582 55 162 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068546 5068546 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:5068546G>T uc010qyv.1 + 1 791 c.791G>T c.(790-792)CGA>CTA p.R264L NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTACTCATCGATTTGGACAC 0.443 73 329 --- --- --- --- PASS PIK3C2A 5286 broad.mit.edu 37 11 17191060 17191060 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:17191060C>G uc001mmq.3 - 1 295 c.229G>C c.(229-231)GTG>CTG p.V77L PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.V77L|PIK3C2A_uc009ygv.1_Missense_Mutation_p.V77L NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 77 Interaction with clathrin. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) TCAGGAAACACCATGAGATCA 0.393 14 511 --- --- --- --- PASS PIK3C2A 5286 broad.mit.edu 37 11 17191061 17191061 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:17191061C>A uc001mmq.3 - 1 294 c.228G>T c.(226-228)ATG>ATT p.M76I PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.M76I|PIK3C2A_uc009ygv.1_Missense_Mutation_p.M76I NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 76 Interaction with clathrin. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) CAGGAAACACCATGAGATCAT 0.393 14 517 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20673901 20673901 + Missense_Mutation SNP T A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:20673901T>A uc001mqd.2 + 15 2410 c.2137T>A c.(2137-2139)TGG>AGG p.W713R SLC6A5_uc009yic.2_Missense_Mutation_p.W478R NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 713 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) CTATCCTAACTGGTCCATGGT 0.468 114 206 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433015 55433015 + Missense_Mutation SNP T A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:55433015T>A uc001nht.3 + 3 638 c.373T>A c.(373-375)TGT>AGT p.C125S OR4C6_uc010rik.1_Missense_Mutation_p.C125S NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CGTGGCCATCTGTAAGCCCCT 0.542 79 128 --- --- --- --- PASS SLC22A25 387601 broad.mit.edu 37 11 62931543 62931543 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:62931543C>A uc001nwr.1 - 9 1397 c.1397G>T c.(1396-1398)GGA>GTA p.G466V SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 466 Cytoplasmic (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 AGTAGCTCTTCCCCTTGGAGT 0.403 58 255 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 99715991 99715991 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:99715991G>T uc001pga.2 + 6 913 c.574G>T c.(574-576)GCC>TCC p.A192S CNTN5_uc009ywv.1_Missense_Mutation_p.A192S|CNTN5_uc001pfz.2_Missense_Mutation_p.A192S|CNTN5_uc001pgb.2_Missense_Mutation_p.A118S NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 192 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACTGCAGTTTGCCTGTGAGTA 0.328 38 155 --- --- --- --- PASS ANGPTL5 253935 broad.mit.edu 37 11 101765758 101765758 + Missense_Mutation SNP T C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:101765758T>C uc001pgl.2 - 8 1295 c.699A>G c.(697-699)ATA>ATG p.I233M NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 233 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TCTGATTTACTATATAAAAAA 0.274 40 61 --- --- --- --- PASS YAP1 10413 broad.mit.edu 37 11 102080293 102080293 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:102080293C>A uc001pgt.2 + 6 1400 c.1030C>A c.(1030-1032)CAG>AAG p.Q344K YAP1_uc001pgs.2_Intron|YAP1_uc001pgu.2_Intron|YAP1_uc001pgv.2_Intron|YAP1_uc010ruo.1_Missense_Mutation_p.Q166K|YAP1_uc001pgw.2_Missense_Mutation_p.Q168K|YAP1_uc010rup.1_Missense_Mutation_p.Q109K NM_001130145 NP_001123617 P46937 YAP1_HUMAN Yes-associated protein 1, 65kDa isoform 1 344 Transactivation domain. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) TCCAAAATGTCAGGTAGGCTC 0.358 294 110 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49431061 49431061 + Nonsense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr12:49431061G>A uc001rta.3 - 34 10078 c.10078C>T c.(10078-10080)CAG>TAG p.Q3360* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3360 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCTCCATGCTGCCCACTTAGC 0.602 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 9 23 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49438218 49438218 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr12:49438218C>G uc001rta.3 - 20 5051 c.5051G>C c.(5050-5052)AGC>ACC p.S1684T NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1684 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCGTTTTTTGCTTTCCTCGGT 0.597 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 104 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 72936106 72936106 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr12:72936106G>T uc001sxa.2 + 7 1653 c.1623G>T c.(1621-1623)ATG>ATT p.M541I NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 541 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CTAATTTTATGGGCCATTCAG 0.308 19 54 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101702101 101702101 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr12:101702101C>G uc001tia.1 + 18 2290 c.2134C>G c.(2134-2136)CCT>GCT p.P712A NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 712 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GACTGCTGTCCCTGATGGGCC 0.393 36 115 --- --- --- --- PASS RFC5 5985 broad.mit.edu 37 12 118464747 118464747 + Silent SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr12:118464747C>A uc001twq.2 + 8 842 c.717C>A c.(715-717)ACC>ACA p.T239T RFC5_uc010syx.1_Silent_p.T218T|RFC5_uc010syy.1_Silent_p.T218T|RFC5_uc010syz.1_Silent_p.T154T|RFC5_uc009zwr.2_Silent_p.T239T NM_007370 NP_031396 P40937 RFC5_HUMAN replication factor C 5 isoform 1 239 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACACCTGCACCGGGCACCCGC 0.527 68 174 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111143635 111143635 + Silent SNP G C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr13:111143635G>C uc001vqx.2 + 37 3691 c.3402G>C c.(3400-3402)GGG>GGC p.G1134G NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 1134 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GCTTCCCTGGGATAACAGGCG 0.562 4 13 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20296344 20296344 + Missense_Mutation SNP T C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr14:20296344T>C uc010tkv.1 + 1 737 c.737T>C c.(736-738)GTT>GCT p.V246A NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATATCATTGTTATATTCTTC 0.483 44 429 --- --- --- --- PASS OR4K2 390431 broad.mit.edu 37 14 20345187 20345187 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr14:20345187G>T uc001vwh.1 + 1 761 c.761G>T c.(760-762)TGC>TTC p.C254F NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGGGCCATGCATCTTCATC 0.418 42 500 --- --- --- --- PASS SALL2 6297 broad.mit.edu 37 14 21991220 21991220 + Missense_Mutation SNP G C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr14:21991220G>C uc001wbe.2 - 2 2924 c.2642C>G c.(2641-2643)CCA>CGA p.P881R SALL2_uc010tly.1_Missense_Mutation_p.P879R|SALL2_uc010tlz.1_Missense_Mutation_p.P744R|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.P746R|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 881 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TTCCCCTTCTGGGGTGAGTGC 0.592 14 49 --- --- --- --- PASS C14orf37 145407 broad.mit.edu 37 14 58604947 58604947 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr14:58604947C>G uc001xdc.2 - 2 1241 c.1130G>C c.(1129-1131)GGC>GCC p.G377A C14orf37_uc010tro.1_Missense_Mutation_p.G415A|C14orf37_uc001xdd.2_Missense_Mutation_p.G377A|C14orf37_uc001xde.2_Missense_Mutation_p.G377A NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 377 Extracellular (Potential). integral to membrane binding 0 CAGGGCTGTGCCCGTGTGTGT 0.537 80 347 --- --- --- --- PASS EIF2B2 8892 broad.mit.edu 37 14 75475874 75475874 + Missense_Mutation SNP G C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr14:75475874G>C uc001xrc.1 + 8 1121 c.1039G>C c.(1039-1041)GAT>CAT p.D347H NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 347 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) CTACCATCCTGATGATCATGT 0.473 89 234 --- --- --- --- PASS DUOX2 50506 broad.mit.edu 37 15 45400380 45400380 + Missense_Mutation SNP G C C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr15:45400380G>C uc010bea.2 - 13 1642 c.1439C>G c.(1438-1440)TCC>TGC p.S480C DUOX2_uc001zun.2_Missense_Mutation_p.S480C NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 480 Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTCTAGCTGGGATAGGTCCTG 0.617 28 91 --- --- --- --- PASS ZNF75A 7627 broad.mit.edu 37 16 3367720 3367720 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr16:3367720C>T uc002cut.3 + 6 1268 c.742C>T c.(742-744)CAT>TAT p.H248Y ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 248 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 CTTCACATGTCATGAATGTGG 0.388 39 121 --- --- --- --- PASS CD2BP2 10421 broad.mit.edu 37 16 30364863 30364863 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr16:30364863G>A uc002dxr.2 - 4 887 c.634C>T c.(634-636)CGG>TGG p.R212W CD2BP2_uc002dxs.2_Missense_Mutation_p.R212W NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 212 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 AGGTTGCCCCGGGCCACCATC 0.652 17 49 --- --- --- --- PASS ZNF747 65988 broad.mit.edu 37 16 30544471 30544471 + Missense_Mutation SNP T C C rs142751951 TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr16:30544471T>C uc002dyn.2 - 2 679 c.485A>G c.(484-486)CAG>CGG p.Q162R ZNF768_uc010vex.1_Splice_Site|ZNF747_uc002dyo.1_Intron|ZNF747_uc010vey.1_Intron|uc002dyp.1_5'Flank NM_023931 NP_076420 Q9BV97 ZN747_HUMAN zinc finger protein 747 162 regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 TTCTGGAATCTGCTGAAAGAT 0.617 26 73 --- --- --- --- PASS ADCY7 113 broad.mit.edu 37 16 50324372 50324372 + Missense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr16:50324372C>T uc002egd.1 + 2 444 c.176C>T c.(175-177)CCC>CTC p.P59L ADCY7_uc002egb.1_Missense_Mutation_p.P59L|ADCY7_uc002egc.1_Missense_Mutation_p.P59L NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 59 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) ACCCAGGACCCCTCCAGACAC 0.637 13 52 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7576851 7576851 + Splice_Site SNP A T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr17:7576851A>T uc002gim.2 - 9 1187 c.993_splice c.e9+1 p.Q331_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.Q331_splice|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site_p.Q199_splice|TP53_uc010cng.1_Splice_Site_p.Q199_splice|TP53_uc002gii.1_Splice_Site_p.Q199_splice|TP53_uc010cnh.1_Splice_Site_p.Q331_splice|TP53_uc010cni.1_Splice_Site_p.Q331_splice|TP53_uc002gij.2_Splice_Site_p.Q331_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(8)|p.0?(7)|p.I332fs*49(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) AAGACTTAGTACCTGAAGGGT 0.463 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) 62 69 --- --- --- --- PASS ZNF286A 57335 broad.mit.edu 37 17 15619753 15619753 + Nonsense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr17:15619753G>T uc010cot.2 + 6 1111 c.715G>T c.(715-717)GAG>TAG p.E239* ZNF286A_uc002goz.3_Nonsense_Mutation_p.E127*|ZNF286A_uc010vwa.1_Nonsense_Mutation_p.E239*|ZNF286A_uc002gpa.2_Nonsense_Mutation_p.E239* NM_001130842 NP_001124314 Q9HBT8 Z286A_HUMAN zinc finger protein 286 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) AACTTATAAAGAGAAAAAACC 0.368 40 44 --- --- --- --- PASS KRT40 125115 broad.mit.edu 37 17 39134531 39134531 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr17:39134531C>G uc010cxh.1 - 9 1375 c.1214G>C c.(1213-1215)TGT>TCT p.C405S KRT40_uc002hvq.1_RNA NM_182497 NP_872303 Q6A162 K1C40_HUMAN type I hair keratin KA36 405 Tail. intermediate filament structural molecule activity 0 Breast(137;0.00043) TGTGGTCGAACATGGGCTACA 0.443 3 136 --- --- --- --- PASS EZH1 2145 broad.mit.edu 37 17 40859999 40859999 + Missense_Mutation SNP T A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr17:40859999T>A uc002iaz.2 - 15 1782 c.1637A>T c.(1636-1638)AAG>ATG p.K546M EZH1_uc002iba.2_Missense_Mutation_p.K537M|EZH1_uc010wgt.1_Missense_Mutation_p.K476M|EZH1_uc010wgu.1_Missense_Mutation_p.K552M|EZH1_uc010wgv.1_Missense_Mutation_p.K506M|EZH1_uc010wgw.1_Missense_Mutation_p.K407M|EZH1_uc010cyp.2_Missense_Mutation_p.K447M|EZH1_uc010cyq.2_Missense_Mutation_p.K463M|EZH1_uc010cyo.1_Missense_Mutation_p.K209M|EZH1_uc010cyr.1_Missense_Mutation_p.K198M NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 546 Cys-rich. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CTGGCAGAACTTCTCACAGAA 0.522 9 236 --- --- --- --- PASS AOC3 8639 broad.mit.edu 37 17 41004946 41004946 + Missense_Mutation SNP A T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr17:41004946A>T uc002ibv.2 + 1 1746 c.1586A>T c.(1585-1587)GAT>GTT p.D529V NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 529 Extracellular (Potential). Calcium 1. amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TTCAAGGTGGATCTGGATGTA 0.512 3 88 --- --- --- --- PASS CACNA1G 8913 broad.mit.edu 37 17 48695601 48695601 + Missense_Mutation SNP C A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr17:48695601C>A uc002irk.1 + 32 5696 c.5324C>A c.(5323-5325)CCC>CAC p.P1775H CACNA1G_uc002irj.1_Missense_Mutation_p.P1741H|CACNA1G_uc002irl.1_Missense_Mutation_p.P1752H|CACNA1G_uc002irm.1_Missense_Mutation_p.P1741H|CACNA1G_uc002irn.1_Missense_Mutation_p.P1734H|CACNA1G_uc002iro.1_Missense_Mutation_p.P1741H|CACNA1G_uc002irp.1_Missense_Mutation_p.P1775H|CACNA1G_uc002irq.1_Missense_Mutation_p.P1752H|CACNA1G_uc002irr.1_Missense_Mutation_p.P1775H|CACNA1G_uc002irs.1_Missense_Mutation_p.P1764H|CACNA1G_uc002irt.1_Missense_Mutation_p.P1757H|CACNA1G_uc002irv.1_Missense_Mutation_p.P1764H|CACNA1G_uc002irw.1_Missense_Mutation_p.P1752H|CACNA1G_uc002iru.1_Missense_Mutation_p.P1741H|CACNA1G_uc002irx.1_Missense_Mutation_p.P1688H|CACNA1G_uc002iry.1_Missense_Mutation_p.P1677H|CACNA1G_uc002irz.1_Missense_Mutation_p.P1681H|CACNA1G_uc002isa.1_Missense_Mutation_p.P1654H|CACNA1G_uc002isb.1_Missense_Mutation_p.P1695H|CACNA1G_uc002isc.1_Missense_Mutation_p.P1677H|CACNA1G_uc002isd.1_Missense_Mutation_p.P1663H|CACNA1G_uc002ise.1_Missense_Mutation_p.P1643H|CACNA1G_uc002isf.1_Missense_Mutation_p.P1670H|CACNA1G_uc002isg.1_Missense_Mutation_p.P1636H|CACNA1G_uc002ish.1_Missense_Mutation_p.P1643H|CACNA1G_uc002isi.1_Missense_Mutation_p.P1631H NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1775 IV.|Extracellular (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GAGACACACCCCTGTGAGGGC 0.612 53 62 --- --- --- --- PASS ABCC3 8714 broad.mit.edu 37 17 48764928 48764928 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr17:48764928C>G uc002isl.2 + 30 4392 c.4312C>G c.(4312-4314)CGA>GGA p.R1438G ABCC3_uc002isn.2_Missense_Mutation_p.R192G NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1438 Cytoplasmic (By similarity).|ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GTGCCTGGCCCGAGCCCTGCT 0.647 21 25 --- --- --- --- PASS SERPINB2 5055 broad.mit.edu 37 18 61569664 61569664 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr18:61569664G>A uc010xeu.1 + 8 1038 c.705G>A c.(703-705)ATG>ATA p.M235I SERPINB2_uc002ljo.2_Missense_Mutation_p.M235I|SERPINB2_uc010dqh.2_Missense_Mutation_p.M165I|SERPINB2_uc002ljp.1_Missense_Mutation_p.M40I|SERPINB2_uc002ljq.1_Missense_Mutation_p.M40I NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 235 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TACAGATGATGTACTTGCGTG 0.363 27 81 --- --- --- --- PASS TRAPPC5 126003 broad.mit.edu 37 19 7747477 7747477 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr19:7747477G>T uc002mhi.1 + 2 408 c.338G>T c.(337-339)CGC>CTC p.R113L TRAPPC5_uc002mhj.1_Missense_Mutation_p.R113L|TRAPPC5_uc002mhk.1_Missense_Mutation_p.R113L NM_001042462 NP_001035927 Q8IUR0 TPPC5_HUMAN trafficking protein particle complex 5 113 vesicle-mediated transport endoplasmic reticulum guanylate cyclase activity|heme binding 0 GATGACGCGCGCACCTTCTAC 0.627 9 23 --- --- --- --- PASS ABHD8 79575 broad.mit.edu 37 19 17411739 17411739 + Silent SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr19:17411739C>G uc002ngb.3 - 2 927 c.687G>C c.(685-687)GCG>GCC p.A229A NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 229 hydrolase activity 0 CCTCAGCCAGCGCATAGAAGG 0.602 37 107 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19654937 19654937 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr19:19654937G>A uc002nmv.3 + 8 1668 c.1583G>A c.(1582-1584)AGC>AAC p.S528N CILP2_uc002nmw.3_Missense_Mutation_p.S534N NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 528 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GTGGACCCCAGCGGTGAGTTC 0.627 19 47 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23545124 23545124 + Missense_Mutation SNP A T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr19:23545124A>T uc002nre.2 - 4 770 c.657T>A c.(655-657)TTT>TTA p.F219L ZNF91_uc010xrj.1_Missense_Mutation_p.F187L NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 219 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGGACCAATGAAAGGTTTTTT 0.353 4 131 --- --- --- --- PASS FUZ 80199 broad.mit.edu 37 19 50310553 50310553 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr19:50310553G>T uc002ppq.1 - 11 1217 c.1112C>A c.(1111-1113)ACT>AAT p.T371N FUZ_uc002ppr.1_Missense_Mutation_p.T271N|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.T335N|FUZ_uc002ppv.1_Missense_Mutation_p.T321N NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN fuzzy homolog 371 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TGGTTCCTCAGTCCCCAACAC 0.637 15 51 --- --- --- --- PASS VN1R2 317701 broad.mit.edu 37 19 53762406 53762406 + Missense_Mutation SNP T A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr19:53762406T>A uc002qbi.2 + 1 862 c.778T>A c.(778-780)TCA>ACA p.S260T NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 260 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) AGTCACAAAGTCAGTATATGC 0.433 28 222 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56953173 56953173 + Silent SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr19:56953173C>T uc002qnd.2 - 5 1353 c.1191G>A c.(1189-1191)CGG>CGA p.R397R ZNF667_uc010etl.2_Silent_p.R179R|ZNF667_uc002qne.2_Silent_p.R397R|ZNF667_uc010etm.2_Silent_p.R340R NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 397 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGGATGAATGCCGATTGCAGA 0.363 4 115 --- --- --- --- PASS SNAP25 6616 broad.mit.edu 37 20 10280021 10280021 + Silent SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr20:10280021C>T uc002wnq.1 + 7 725 c.513C>T c.(511-513)ATC>ATT p.I171I SNAP25_uc002wnr.1_Silent_p.I171I|SNAP25_uc002wns.1_Silent_p.I108I|SNAP25_uc010gca.1_Silent_p.I171I|SNAP25_uc010gcb.1_Silent_p.I108I|SNAP25_uc010gcc.1_Silent_p.I65I NM_130811 NP_570824 P60880 SNP25_HUMAN synaptosomal-associated protein 25 isoform 171 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome skin(2) 2 Botulinum Toxin Type A(DB00083) GCAATGAGATCGATACACAGA 0.507 29 92 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33582189 33582189 + Silent SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr20:33582189C>T uc002xbi.1 + 25 2903 c.2811C>T c.(2809-2811)GCC>GCT p.A937A NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 895 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) ATGACCTGGCCCTGCAGCTGC 0.667 12 27 --- --- --- --- PASS JPH2 57158 broad.mit.edu 37 20 42788493 42788493 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr20:42788493G>T uc002xli.1 - 2 1807 c.934C>A c.(934-936)CTC>ATC p.L312I NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 312 MORN 7.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCGTAGCGGAGGCCACTGGAG 0.662 9 21 --- --- --- --- PASS SULF2 55959 broad.mit.edu 37 20 46295097 46295097 + Missense_Mutation SNP G T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr20:46295097G>T uc002xto.2 - 12 2042 c.1712C>A c.(1711-1713)CCT>CAT p.P571H SULF2_uc002xtr.2_Missense_Mutation_p.P571H|SULF2_uc002xtq.2_Missense_Mutation_p.P571H|SULF2_uc010zyd.1_5'Flank NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 571 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TTGGTCCTCAGGGGCCCCTGG 0.632 32 110 --- --- --- --- PASS DDX27 55661 broad.mit.edu 37 20 47835947 47835947 + Nonsense_Mutation SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr20:47835947C>T uc002xuh.2 + 1 116 c.55C>T c.(55-57)CAG>TAG p.Q19* NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 19 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGCCGGACCGCAGGCTGTGCT 0.622 8 25 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61512601 61512601 + Silent SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr20:61512601C>T uc002ydr.1 - 16 4971 c.4707G>A c.(4705-4707)GAG>GAA p.E1569E DIDO1_uc002yds.1_Silent_p.E1569E NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1569 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CCTCACCGGTCTCAGTGGCCA 0.711 4 18 --- --- --- --- PASS NPBWR2 2832 broad.mit.edu 37 20 62737655 62737655 + Missense_Mutation SNP A G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr20:62737655A>G uc011abt.1 - 1 530 c.530T>C c.(529-531)CTG>CCG p.L177P NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 177 Helical; Name=4; (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) GGGCAGAACCAGGACCGTGAC 0.662 8 39 --- --- --- --- PASS PPEF1 5475 broad.mit.edu 37 X 18725907 18725907 + Missense_Mutation SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chrX:18725907G>A uc004cyq.2 + 4 489 c.8G>A c.(7-9)TGC>TAC p.C3Y PPEF1_uc004cyp.2_Missense_Mutation_p.C3Y|PPEF1_uc004cyr.2_Missense_Mutation_p.C3Y|PPEF1_uc004cys.2_Missense_Mutation_p.C3Y|PPEF1_uc011mja.1_5'UTR NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 3 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) GTCATGGGATGCAGCAGTTCT 0.438 17 34 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34149040 34149040 + Silent SNP A G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chrX:34149040A>G uc004ddg.2 - 1 1389 c.1356T>C c.(1354-1356)ACT>ACC p.T452T NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 452 ovary(4)|central_nervous_system(1) 5 TGGGTTCCTTAGTTTTCTTCA 0.557 4 52 --- --- --- --- PASS SHROOM4 57477 broad.mit.edu 37 X 50341478 50341478 + Missense_Mutation SNP C G G TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chrX:50341478C>G uc004dpe.2 - 8 4026 c.4000G>C c.(4000-4002)GGG>CGG p.G1334R SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 1334 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) TCTAGCAGCCCTCGCTGGGCC 0.478 9 7 --- --- --- --- PASS MED12 9968 broad.mit.edu 37 X 70349706 70349706 + Splice_Site SNP G A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chrX:70349706G>A uc004dyy.2 + 27 4066 c.3867_splice c.e27+1 p.Q1289_splice MED12_uc011mpq.1_Splice_Site_p.Q1289_splice|MED12_uc004dyz.2_Splice_Site_p.Q1289_splice|MED12_uc004dza.2_Splice_Site_p.Q1136_splice|MED12_uc010nla.2_Splice_Site NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CTGCCAACAGGTCAGTTTCAC 0.532 OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 25 --- --- --- --- PASS COL4A6 1288 broad.mit.edu 37 X 107449748 107449748 + Missense_Mutation SNP T A A TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chrX:107449748T>A uc004enw.3 - 9 715 c.612A>T c.(610-612)CAA>CAT p.Q204H COL4A6_uc004env.3_Missense_Mutation_p.Q203H|COL4A6_uc011msn.1_Missense_Mutation_p.Q203H|COL4A6_uc010npk.2_Missense_Mutation_p.Q203H NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 204 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 TTGATCTTACTTGTAATCCTG 0.433 Alport_syndrome_with_Diffuse_Leiomyomatosis 51 41 --- --- --- --- PASS MIR510 574515 broad.mit.edu 37 X 146353861 146353861 + RNA SNP C T T TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chrX:146353861C>T hsa-mir-510|MI0003197 - c.66C>T 0 ATGTGTTACTCCACTCTTAGA 0.413 21 24 --- --- --- --- PASS OTUB1 55611 broad.mit.edu 37 11 63764701 63764701 + Frame_Shift_Del DEL G - - TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 85d7e094-ca96-4090-83aa-2f318ae6e954 3a4cd1fc-922c-4d55-95e8-c06257ede42c g.chr11:63764701delG uc001nyf.1 + 6 1207 c.603delG c.(601-603)AAGfs p.K201fs OTUB1_uc001nyg.1_Frame_Shift_Del_p.K244fs|OTUB1_uc010rmz.1_Frame_Shift_Del_p.K238fs|OTUB1_uc010rna.1_Frame_Shift_Del_p.K210fs|OTUB1_uc009ypa.2_Frame_Shift_Del_p.K100fs|OTUB1_uc009ypb.1_Frame_Shift_Del_p.K171fs NM_017670 NP_060140 Q96FW1 OTUB1_HUMAN otubain 1 201 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1) 1 GGACTGTCAAGGAGTTCTGCC 0.667 109 57 --- --- --- ---