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 CEP104 9731 broad.mit.edu 37 1 3732029 3732029 + Missense_Mutation SNP G G C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:3732029G>C uc001aky.2 - 21 3074 c.2715C>G c.(2713-2715)agC>agG p.S905R CEP104_uc010nzm.1_Non-coding_Transcript NM_014704 NP_055519 O60308 CE104_HUMAN Homo sapiens centrosomal protein 104kDa (CEP104), mRNA. 905 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TGGGGATCTTGCTTCCGGCCT 0.642 TNFRSF8 943 broad.mit.edu 37 1 12164492 12164492 + Nonsense_Mutation SNP C C T rs148756853 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:12164492C>T uc001atq.3 + 3 547 c.325C>T c.(325-327)Cga>Tga p.R109* TNFRSF8_uc010obc.2_5'UTR NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 109 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CTGCGAATGTCGACCCGGCAT 0.577 DPH2 1802 broad.mit.edu 37 1 44437537 44437537 + Silent SNP G G T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:44437537G>T uc001ckz.3 + 3 1158 c.963G>T c.(961-963)cgG>cgT p.R321R DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Silent_p.R186R|DPH2_uc001clb.3_Silent_p.R245R NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA. 321 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CCCTGGGGCGGCCCACCCCTG 0.607 PTGFR 5737 broad.mit.edu 37 1 79002163 79002163 + Nonsense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:79002163C>T uc001din.3 + 2 1137 c.871C>T c.(871-873)Cga>Tga p.R291* PTGFR_uc001dim.3_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 291 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.R291R(1)|p.R290M(1) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TTTTGCTCTCCGAATGGCAAC 0.388 HRNR 388697 broad.mit.edu 37 1 152193260 152193260 + Missense_Mutation SNP C C G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:152193260C>G uc001ezt.1 - 2 921 c.845G>C c.(844-846)aGc>aCc p.S282T NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 282 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGACCATAGCTGGAAGACGA 0.587 LCE4A 199834 broad.mit.edu 37 1 152681693 152681698 + In_Frame_Del DEL TGTGGT TGTGGT - rs74871420 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:152681693_152681698delTGTGGT uc001fak.2 + 0 171_176 c.142_147delTGTGGT c.(142-147)tgtggtdel p.CG48del NM_178356 NP_848133 Q5TA78 LCE4A_HUMAN Homo sapiens late cornified envelope 4A (LCE4A), mRNA. 48 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CTCTGGGGGCTGTGGTTGCTGCAGCT 0.578 IQGAP3 128239 broad.mit.edu 37 1 156518190 156518190 + Missense_Mutation SNP G G C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:156518190G>C uc001fpf.3 - 17 2158 c.2083C>G c.(2083-2085)Cct>Gct p.P695A NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA. 695 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGCCAGGAGGTTGCTCCCAG 0.557 ASPM 259266 broad.mit.edu 37 1 197061071 197061071 + Missense_Mutation SNP G G T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:197061071G>T uc001gtu.3 - 21 9667 c.9410C>A c.(9409-9411)gCt>gAt p.A3137D ASPM_uc001gtv.3_Missense_Mutation_p.A1552D|ASPM_uc001gtw.4_Missense_Mutation_p.A985D NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 3137 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CTGCTTGTTAGCATTCTTCAC 0.338 OR2W5 441932 broad.mit.edu 37 1 247654810 247654810 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:247654810C>T uc001icz.2 + 0 441 c.381C>T c.(379-381)tgC>tgT p.C127C NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA. 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGGCCGTCTGCCGGTCCCTGC 0.587 TRIM58 25893 broad.mit.edu 37 1 248039235 248039235 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:248039235C>T uc001ido.3 + 5 953 c.905C>T c.(904-906)cCg>cTg p.P302L OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 302 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACGGCGCACCCGAGTCTGCTC 0.557 OR2L3 391192 broad.mit.edu 37 1 248224640 248224640 + Silent SNP G G T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:248224640G>T uc001idx.1 + 0 657 c.657G>T c.(655-657)cgG>cgT p.R219R OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCTATGGCCGGGTTCTCCTTG 0.498 OR2G6 391211 broad.mit.edu 37 1 248685400 248685400 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:248685400C>T uc001ien.1 + 0 453 c.453C>T c.(451-453)agC>agT p.S151S NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATGGCTCAGCGGCCTCATCA 0.577 ITIH5 80760 broad.mit.edu 37 10 7605143 7605143 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr10:7605143G>A uc021pmv.1 - 13 2838 c.2732C>T c.(2731-2733)gCc>gTc p.A911V ITIH5_uc021pmu.1_Missense_Mutation_p.A697V NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 911 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CAGTTTGGCGGCATTGTTCCT 0.522 ITIH5 80760 broad.mit.edu 37 10 7659109 7659109 + Missense_Mutation SNP G G T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr10:7659109G>T uc021pmv.1 - 5 895 c.789C>A c.(787-789)gaC>gaA p.D263E ITIH5_uc021pmu.1_Missense_Mutation_p.D49E|ITIH5_uc001ijr.2_Missense_Mutation_p.D263E NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 263 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CTCTATTGACGTCATATCTAA 0.388 CYP2C19 1562 broad.mit.edu 37 10 96447617 96447617 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr10:96447617C>T uc001kjv.4 + 1 585 c.259C>T c.(259-261)Ctg>Ttg p.L87L CYP2C19_uc001kjw.4_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 87 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GAAGGAGGCCCTGATTGATCA 0.433 SOX6 55553 broad.mit.edu 37 11 16007846 16007846 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:16007846C>T uc001mme.3 - 14 2159 c.2126G>A c.(2125-2127)cGc>cAc p.R709H SOX6_uc001mmd.3_Missense_Mutation_p.R672H|SOX6_uc001mmf.3_Missense_Mutation_p.R669H|SOX6_uc001mmg.3_Missense_Mutation_p.R676H NM_001145819 NP_001139291 P35712 SOX6_HUMAN Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA. 696 muscle organ development nucleus sequence-specific DNA binding transcription factor activity p.G708V(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 AATGCAGGTGCGTTTCGGTCG 0.473 MRGPRX3 117195 broad.mit.edu 37 11 18158842 18158842 + Silent SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:18158842G>A uc021qek.1 + 0 93 c.93G>A c.(91-93)acG>acA p.T31T MRGPRX3_uc001mnu.3_Silent_p.T31T NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA. 31 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TGAGCTTCACGGGGCTGACGT 0.567 MYBPC3 4607 broad.mit.edu 37 11 47360181 47360181 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:47360181C>T uc021qis.1 - 22 2253 c.2198G>A c.(2197-2199)cGc>cAc p.R733H MYBPC3_uc021qir.1_Missense_Mutation_p.R385H|MYBPC3_uc010rhl.2_Non-coding_Transcript NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 732 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GAAGATGCTGCGGTCCTTGGT 0.632 OR4B1 119765 broad.mit.edu 37 11 48238965 48238965 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:48238965G>A uc010rhs.2 + 0 604 c.604G>A c.(604-606)Gga>Aga p.G202R NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGCCAACAGTGGATTATTCTC 0.473 RTN4RL2 349667 broad.mit.edu 37 11 57235097 57235097 + Missense_Mutation SNP G G C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:57235097G>C uc010rjt.2 + 1 47 c.47G>C c.(46-48)tGc>tCc p.C16S NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA. 16 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GCCTCGGCCTGCCTCCTGCTG 0.682 OR1S1 219959 broad.mit.edu 37 11 57982381 57982381 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:57982381C>T uc010rkc.2 + 0 165 c.165C>T c.(163-165)aaC>aaT p.N55N NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA. 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TGATTGGGAACGGGCTCATCA 0.443 MS4A3 932 broad.mit.edu 37 11 59837091 59837091 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:59837091C>T uc001nom.3 + 5 686 c.558C>T c.(556-558)tgC>tgT p.C186C MS4A3_uc001non.3_Silent_p.C140C|MS4A3_uc001noo.3_Silent_p.C63C NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA. 186 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity p.C186C(2)|p.L185S(1) endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) TGGAATTATGCGTAACCATCT 0.413 POLD4 57804 broad.mit.edu 37 11 67120265 67120265 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:67120265G>A uc001okm.3 - 2 378 c.196C>T c.(196-198)Cgg>Tgg p.R66W LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.3_Non-coding_Transcript NM_021173 NP_066996 Q9HCU8 DPOD4_HUMAN Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA. 66 base-excision repair|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 nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(15;3.08e-06) CGCTGCAGCCGTGTGATCCCT 0.637 MTNR1B 4544 broad.mit.edu 37 11 92714860 92714860 + Silent SNP C C A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:92714860C>A uc001pdk.1 + 1 574 c.471C>A c.(469-471)acC>acA p.T157T NM_005959 NP_005950 P49286 MTR1B_HUMAN Homo sapiens melatonin receptor 1B (MTNR1B), mRNA. 157 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GCTGGCACACCCCTCTGCACA 0.572 CWF19L2 143884 broad.mit.edu 37 11 107200691 107200691 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:107200691C>T uc010rvp.2 - 16 2524 c.2494G>A c.(2494-2496)Gcc>Acc p.A832T CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA. 832 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) ATGACATGGGCAAACCCTCCG 0.383 PRPF40B 25766 broad.mit.edu 37 12 50030600 50030600 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:50030600C>T uc001rur.1 + 14 1525 c.1462C>T c.(1462-1464)Cgc>Tgc p.R488C PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA. 488 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 TCGGGAGCGACGCCAACAACG 0.562 OREG0021797 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CELA1 1990 broad.mit.edu 37 12 51723540 51723540 + Silent SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:51723540G>A uc001ryi.1 - 6 728 c.687C>T c.(685-687)agC>agT p.S229S NM_001971 NP_001962 Q9UNI1 CELA1_HUMAN Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA. 229 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 TACAGCCCCGGCTGGACACAA 0.512 STAT2 6773 broad.mit.edu 37 12 56748251 56748251 + Missense_Mutation SNP A A G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:56748251A>G uc001slc.3 - 8 985 c.782_splice c.e8+1 p.W261_splice STAT2_uc001sld.3_Splice_Site_p.W257_splice|STAT2_uc010sqn.2_Splice_Site_p.W257_splice NM_005419 NP_005410 P52630 STAT2_HUMAN Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA. 261 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 ACCTCTCACCATGTCTCCAGC 0.527 UTP20 27340 broad.mit.edu 37 12 101750729 101750729 + Missense_Mutation SNP C C A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:101750729C>A uc001tia.1 + 42 5716 c.5560C>A c.(5560-5562)Ctc>Atc p.L1854I NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 1854 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 NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GTGTGCCCTACTCAAGAACAG 0.363 TMEM132B 114795 broad.mit.edu 37 12 125834519 125834519 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:125834519G>A uc001uhe.1 + 1 582 c.574G>A c.(574-576)Gag>Aag p.E192K TMEM132B_uc021rgl.1_Missense_Mutation_p.E82K NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 192 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCTGCTGCCCGAGTGGTTCAG 0.632 RB1 5925 broad.mit.edu 37 13 49039351 49039351 + Nonsense_Mutation SNP T T A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr13:49039351T>A uc001vcb.3 + 22 2502 c.2336T>A c.(2335-2337)tTg>tAg p.L779* NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 779 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCCTACCTTGTCACCAATA 0.398 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) FGF14 2259 broad.mit.edu 37 13 102375254 102375254 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr13:102375254G>A uc001vpf.2 - 4 782 c.686C>T c.(685-687)aCg>aTg p.T229M FGF14_uc001vpe.2_Missense_Mutation_p.T224M NM_175929 NP_787125 Q92915 FGF14_HUMAN Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA. 224 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding p.T229M(2)|p.T224M(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTACTTGGCGTCACCCCAGG 0.473 RNF31 55072 broad.mit.edu 37 14 24627141 24627141 + Missense_Mutation SNP C C A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr14:24627141C>A uc001wmn.1 + 16 3011 c.2762C>A c.(2761-2763)tCc>tAc p.S921Y RNF31_uc001wml.1_Missense_Mutation_p.S770Y|RNF31_uc010alg.1_Missense_Mutation_p.S680Y|RNF31_uc001wmo.1_Missense_Mutation_p.S388Y|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.S105Y|IRF9_uc001wmq.3_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN Homo sapiens ring finger protein 31 (RNF31), mRNA. 921 CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GTGAAAAAGTCCCTGCACGGC 0.587 CEP128 145508 broad.mit.edu 37 14 81329142 81329142 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr14:81329142G>A uc001xux.2 - 7 892 c.721C>T c.(721-723)Cgc>Tgc p.R241C CEP128_uc001xuz.2_Missense_Mutation_p.R241C|CEP128_uc001xuy.1_Missense_Mutation_p.R99C NM_152446 NP_689659 Q6ZU80 CE128_HUMAN Homo sapiens centrosomal protein 128kDa (CEP128), mRNA. 241 centriole|spindle pole p.R241C(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TGATCCTGGCGTCTTTCCACC 0.463 FLRT2 23768 broad.mit.edu 37 14 86088466 86088466 + Missense_Mutation SNP T T C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr14:86088466T>C uc021rxf.1 + 0 608 c.608T>C c.(607-609)cTc>cCc p.L203P FLRT2_uc001xvr.3_Missense_Mutation_p.L203P|FLRT2_uc010atd.3_Missense_Mutation_p.L203P NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 203 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTCCAGAATCTCACGAGCTTG 0.522 GATM 2628 broad.mit.edu 37 15 45668979 45668979 + Missense_Mutation SNP G G T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr15:45668979G>T uc001zvc.3 - 1 437 c.108C>A c.(106-108)ttC>ttA p.F36L GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L|LOC145663_uc021sko.1_5'Flank NM_001482 NP_001473 P50440 GATM_HUMAN Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA. 36 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GGGTGCTCTGGAAAGTTCGCT 0.512 MEGF11 84465 broad.mit.edu 37 15 66191203 66191203 + Missense_Mutation SNP G G T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr15:66191203G>T uc002apm.2 - 21 2978 c.2837C>A c.(2836-2838)aCa>aAa p.T946K MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K NM_032445 NP_115821 A6BM72 MEG11_HUMAN Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA. 946 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 GTCCTTAATTGTGGCGTAAGG 0.468 PGPEP1L 145814 broad.mit.edu 37 15 99512679 99512679 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr15:99512679C>T uc002bum.3 - 3 646 c.346G>A c.(346-348)Gtg>Atg p.V116M PGPEP1L_uc010bop.3_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.3_Missense_Mutation_p.V62M NM_001102612 NP_001161374 A6NFU8 PGPIL_HUMAN Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA. 116 proteolysis cysteine-type peptidase activity p.D115N(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1) 14 GAAAAGATCACGTCGACACCC 0.627 TMEM219 124446 broad.mit.edu 37 16 29979390 29979390 + Missense_Mutation SNP A A G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr16:29979390A>G uc002duw.2 + 3 567 c.400A>G c.(400-402)Aca>Gca p.T134A BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_Non-coding_Transcript NM_194280 NP_919256 Q86XT9 TM219_HUMAN Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 2, mRNA. 134 integral to membrane large_intestine(1)|lung(1)|prostate(2) 4 CAGGGTGACCACAGAAAGGAC 0.527 SNX20 124460 broad.mit.edu 37 16 50707501 50707501 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr16:50707501C>T uc002egk.2 - 3 940 c.767G>A c.(766-768)cGc>cAc p.R256H SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA. 256 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding p.R256H(2) kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 GGCCTGCAGGCGCTGCAGGGC 0.741 CPNE2 221184 broad.mit.edu 37 16 57153520 57153520 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr16:57153520C>T uc010cct.2 + 7 1064 c.717C>T c.(715-717)ccC>ccT p.P239P CPNE2_uc002eks.2_Silent_p.P213P|CPNE2_uc010ccu.2_Silent_p.P213P NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN Homo sapiens copine II (CPNE2), mRNA. 213 C2 2. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) TCACAGTGCCCTTGGTGTCCC 0.617 PKD1L2 114780 broad.mit.edu 37 16 81181065 81181065 + Missense_Mutation SNP C C T rs113696594 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr16:81181065C>T uc002fgh.1 - 29 5026 c.5026G>A c.(5026-5028)Gcc>Acc p.A1676T PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1676 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAGCCCAAGGCGGGGGATGGC 0.547 GPS2 84461 broad.mit.edu 37 17 7220634 7220634 + Silent SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:7220634G>A uc002gga.1 - 27 4381 c.4374C>T c.(4372-4374)ttC>ttT p.F1458F GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.F1456F NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 138 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) CAGGCTCCTCGAACCCTACCC 0.607 TP53 7157 broad.mit.edu 37 17 7577138 7577138 + Missense_Mutation SNP C C G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:7577138C>G uc002gim.2 - 7 994 c.800G>C c.(799-801)cGg>cCg p.R267P TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 267 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAAGCTGTTCCGTCCCAGTAG 0.527 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) SLC47A2 146802 broad.mit.edu 37 17 19618087 19618087 + Missense_Mutation SNP C C T rs148775490 byFrequency TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:19618087C>T uc002gwe.4 - 2 416 c.241G>A c.(241-243)Gga>Aga p.G81R SLC47A2_uc002gwg.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwf.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript NM_152908 NP_690872 Q86VL8 S47A2_HUMAN Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA. 81 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) ACAGAAACTCCGCAGACATTG 0.587 DHRS13 147015 broad.mit.edu 37 17 27228288 27228288 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:27228288C>T uc002hde.4 - 3 529 c.402G>A c.(400-402)gcG>gcA p.A134A DHRS13_uc002hdd.4_Silent_p.A84A|DHRS13_uc010wba.2_Silent_p.A53A NM_144683 NP_653284 Q6UX07 DHR13_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA. 134 extracellular region binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 9 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) GCAGGTTAAACGCCTCACGGG 0.592 MTMR4 9110 broad.mit.edu 37 17 56582201 56582201 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:56582201C>T uc002iwj.2 - 11 1348 c.1238G>A c.(1237-1239)cGc>cAc p.R413H NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 413 Myotubularin phosphatase.|Substrate binding (By similarity). cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCGGTGTGCGGTCCCAGCC 0.532 AXIN2 8313 broad.mit.edu 37 17 63553948 63553948 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:63553948G>A uc002jfi.3 - 1 1080 c.791C>T c.(790-792)aCg>aTg p.T264M AXIN2_uc010den.1_Missense_Mutation_p.T264M|AXIN2_uc002jfh.3_Missense_Mutation_p.T264M|AXIN2_uc002jfj.1_Missense_Mutation_p.T264M NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN Homo sapiens axin 2 (AXIN2), mRNA. 264 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 AACAGTTTCCGTGGACCTCAC 0.537 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome EMR3 84658 broad.mit.edu 37 19 14785604 14785604 + Translation_Start_Site SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:14785604C>T uc002mzi.4 - 0 EMR3_uc010dzp.3_5'UTR|EMR3_uc010xnv.2_5'UTR NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 GGGTATCCCACGCCAGCCAGC 0.507 F2RL3 9002 broad.mit.edu 37 19 17000950 17000950 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:17000950G>A uc002nfa.3 + 1 851 c.676G>A c.(676-678)Gtg>Atg p.V226M NM_003950 NP_003941 Q96RI0 PAR4_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA. 226 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CTCCGATCGCGTGCTCTGCCA 0.701 FFAR3 2865 broad.mit.edu 37 19 35849928 35849928 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:35849928C>T uc002nzd.3 + 1 211 c.136C>T c.(136-138)Cgc>Tgc p.R46C FFAR3_uc021usm.1_Missense_Mutation_p.R46C NM_005304 NP_005295 O14843 FFAR3_HUMAN Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA. 46 integral to plasma membrane G-protein coupled receptor activity|lipid binding p.R46R(1)|p.R45H(1) endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GCTGCAGCGCCGCCCGGTGGC 0.637 ZNF229 7772 broad.mit.edu 37 19 44932920 44932920 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:44932920G>A uc002oze.1 - 5 2470 c.2036C>T c.(2035-2037)aCg>aTg p.T679M ZNF229_uc010ejk.1_Missense_Mutation_p.T333M|ZNF229_uc010ejl.1_Missense_Mutation_p.T673M NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CTTTTTTCCCGTGTGGACTCG 0.512 ZNF534 147658 broad.mit.edu 37 19 52942354 52942354 + Silent SNP A A G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:52942354A>G uc002pzk.3 + 3 1747 c.1680A>G c.(1678-1680)gaA>gaG p.E560E ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.E547E NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA. 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 ATACTGGAGAAAAGCCTTACA 0.433 EHD3 30845 broad.mit.edu 37 2 31484475 31484475 + Missense_Mutation SNP A A T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:31484475A>T uc002rnu.3 + 4 1584 c.976A>T c.(976-978)Aac>Tac p.N326Y EHD3_uc010ymt.2_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 326 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CGGGAAGGACAACAAGAAGAA 0.552 DPP10 57628 broad.mit.edu 37 2 116497460 116497460 + Silent SNP G G A rs146251151 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:116497460G>A uc002tle.3 + 8 876 c.855G>A c.(853-855)ccG>ccA p.P285P DPP10_uc002tla.2_Silent_p.P281P|DPP10_uc002tlb.2_Silent_p.P231P|DPP10_uc002tlc.2_Silent_p.P277P|DPP10_uc002tlf.2_Silent_p.P274P NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 281 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGCAGTATCCGTATCCTAAGG 0.423 UGGT1 56886 broad.mit.edu 37 2 128939777 128939777 + Missense_Mutation SNP G G T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:128939777G>T uc002tps.3 + 36 4335 c.4157G>T c.(4156-4158)tGt>tTt p.C1386F UGGT1_uc002tpr.3_Missense_Mutation_p.C1362F NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA. 1386 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACTCCTTTCTGTGACAGCCGA 0.418 GCA 25801 broad.mit.edu 37 2 163204170 163204170 + Missense_Mutation SNP G G C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:163204170G>C uc002ucg.3 + 1 286 c.110G>C c.(109-111)gGa>gCa p.G37A NM_012198 NP_036330 P28676 GRAN_HUMAN Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA. 37 cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity p.G37*(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 9 CTCCTCGATGGATACTCTGGG 0.463 TTN 7273 broad.mit.edu 37 2 179598493 179598493 + Missense_Mutation SNP A A G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:179598493A>G uc021vsy.1 - 49 12116 c.11891T>C c.(11890-11892)aTc>aCc p.I3964T TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4891 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTTCTCTGATGACCTCTTG 0.448 GLS 2744 broad.mit.edu 37 2 191765419 191765419 + Silent SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:191765419G>A uc002usf.2 + 4 999 c.735_splice c.e4+1 p.K245_splice GLS_uc002use.2_Splice_Site_p.K245_splice NM_014905 NP_055720 O94925 GLSK_HUMAN Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 245 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTGGAGGAAAGGTAATGCTTT 0.323 ZNFX1 57169 broad.mit.edu 37 20 47887010 47887010 + Nonsense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr20:47887010G>A uc002xui.3 - 2 1586 c.1339C>T c.(1339-1341)Cga>Tga p.R447* NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA. 447 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAGAGCAATCGTTTGGAATTC 0.468 PRIC285 85441 broad.mit.edu 37 20 62200284 62200284 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr20:62200284G>A uc002yfm.2 - 5 2049 c.1157C>T c.(1156-1158)gCg>gTg p.A386V PRIC285_uc002yfl.1_5'Flank NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 386 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) TCCCGGAGGCGCGAAGAGCAT 0.677 SPECC1L 23384 broad.mit.edu 37 22 24807598 24807598 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr22:24807598C>T uc002zzw.3 + 14 3433 c.3130C>T c.(3130-3132)Ctg>Ttg p.L1044L SPECC1L_uc002zzv.4_Silent_p.L1044L|SPECC1L_uc011ajq.2_Intron|SPECC1L_uc021wne.1_Non-coding_Transcript|SPECC1L_uc021wnf.1_Silent_p.L110L NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA. 1044 CH. cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 GAATGATGGGCTGGCCTTCTG 0.493 RBMS3 27303 broad.mit.edu 37 3 30032601 30032601 + Missense_Mutation SNP C C G rs143165101 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:30032601C>G uc003cel.3 + 13 1578 c.1208C>G c.(1207-1209)aCa>aGa p.T403R RBMS3_uc010hfq.3_Missense_Mutation_p.T400R|RBMS3_uc003cek.3_Missense_Mutation_p.T387R|RBMS3_uc010hfr.3_Missense_Mutation_p.T387R|RBMS3_uc003cem.3_Missense_Mutation_p.T385R NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA. 403 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) TCTCCCCAGACAGTGGCACCT 0.483 CCR9 10803 broad.mit.edu 37 3 45942421 45942421 + Silent SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:45942421G>A uc003coz.2 + 2 321 c.141G>A c.(139-141)gcG>gcA p.A47A LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.A35A|CCR9_uc003cpa.2_Silent_p.A35A|CCR9_uc021wwv.1_Silent_p.A35A NM_031200 NP_006632 P51686 CCR9_HUMAN Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA. 47 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) GGCAGTTTGCGAGCCATTTCC 0.468 STAB1 23166 broad.mit.edu 37 3 52540233 52540233 + Silent SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:52540233G>A uc003dej.3 + 16 1871 c.1797G>A c.(1795-1797)gcG>gcA p.A599A STAB1_uc003dei.1_Silent_p.A599A NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 599 FAS1 2. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.A599A(2) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCACCATGGCGAACCAGGTCC 0.622 GCET2 257144 broad.mit.edu 37 3 111852081 111852081 + Translation_Start_Site SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:111852081G>A uc021xcl.1 - 0 GCET2_uc003dys.2_5'UTR|GCET2_uc021xcm.1_5'UTR NM_001190259 NP_001177188 Q8N6F7 GCET2_HUMAN Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA. mitochondrion endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 8 CTGGCCACCCGTGCAGAGACA 0.557 STXBP5L 9515 broad.mit.edu 37 3 120764376 120764376 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:120764376G>A uc003eec.4 + 4 604 c.464G>A c.(463-465)cGg>cAg p.R155Q STXBP5L_uc011bji.2_Missense_Mutation_p.R155Q NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 155 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.R155L(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AAATTTAACCGGGAACGGTAA 0.358 MECOM 2122 broad.mit.edu 37 3 168833869 168833869 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:168833869C>T uc011bpj.1 - 7 2194 c.1791G>A c.(1789-1791)tcG>tcA p.S597S MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc003ffi.3_Silent_p.S409S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpk.1_Silent_p.S409S|MECOM_uc010hwn.2_Silent_p.S597S NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GATCAGAGCCCGAGGTTGTTT 0.423 ACAP2 23527 broad.mit.edu 37 3 195102729 195102729 + Missense_Mutation SNP A A G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:195102729A>G uc003fun.4 - 2 375 c.134T>C c.(133-135)aTg>aCg p.M45T ACAP2_uc003fuo.3_Missense_Mutation_p.M45T NM_012287 NP_036419 Q15057 ACAP2_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA. 45 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 AGTATCAATCATTGCAATACA 0.343 TNK2 10188 broad.mit.edu 37 3 195597005 195597006 + Frame_Shift_Ins INS - - G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:195597005_195597006insG uc003fvu.1 - 10 2065_2066 c.1522_1523insC c.(1522-1524)cagfs p.Q508fs TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 508 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TCCTAGATGCTGGGGGGGCCGG 0.614 GPR78 27201 broad.mit.edu 37 4 8583361 8583361 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr4:8583361G>A uc003glk.3 + 0 1145 c.652G>A c.(652-654)Gcc>Acc p.A218T GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript NM_080819 NP_543009 Q96P69 GPR78_HUMAN Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA. 218 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CGCGCTGCTCGCCGACCTGCA 0.687 FGB 2244 broad.mit.edu 37 4 155487823 155487823 + Missense_Mutation SNP A A T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr4:155487823A>T uc003ioa.4 + 3 529 c.490_splice c.e3+1 p.D164_splice FGB_uc010ipu.1_Splice_Site|FGB_uc010ipv.3_Splice_Site_p.D105_splice NM_005141 NP_005132 P02675 FIBB_HUMAN Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA. 164 Cleavage; by plasmin; to break down fibrin clots. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AGCAAGTAAAAGGTAGATATC 0.403 C5orf42 65250 broad.mit.edu 37 5 37167302 37167302 + Missense_Mutation SNP T T A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:37167302T>A uc011cpa.1 - 34 7478 c.7247A>T c.(7246-7248)cAa>cTa p.Q2416L C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2416 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGGGATAAGTTGTGTTTTTTT 0.313 C7 730 broad.mit.edu 37 5 40976859 40976859 + Silent SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:40976859G>A uc003jmh.3 + 15 2196 c.2082G>A c.(2080-2082)ccG>ccA p.P694P C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 694 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TAGAAAATCCGTTAACACAGG 0.433 ACTBL2 345651 broad.mit.edu 37 5 56778318 56778318 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:56778318C>T uc003jrm.3 - 0 319 c.217G>A c.(217-219)Gag>Aag p.E73K NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN Homo sapiens actin, beta-like 2 (ACTBL2), mRNA. 73 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) ACTCCATGCTCGATAGGATAC 0.542 GPR98 84059 broad.mit.edu 37 5 89990447 89990447 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:89990447G>A uc003kju.3 + 32 7970 c.7874G>A c.(7873-7875)cGt>cAt p.R2625H GPR98_uc003kjt.3_Missense_Mutation_p.R331H|GPR98_uc003kjv.3_Missense_Mutation_p.R225H NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2625 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTCGAATGGCGTGTTGTTGGT 0.473 PCDHAC2 56146 broad.mit.edu 37 5 140176747 140176747 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:140176747C>T uc003lhd.2 + 0 2304 c.2198C>T c.(2197-2199)gCg>gTg p.A733V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A733V NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 752 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCGCGCGCGCCAGGAAAG 0.682 PCDHGC5 56104 broad.mit.edu 37 5 140730079 140730079 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:140730079C>T uc003ljo.2 + 0 252 c.252C>T c.(250-252)aaC>aaT p.N84N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.N84N NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 87 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N84N(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTAGTGAACGGTAGGATAG 0.473 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM71B 153745 broad.mit.edu 37 5 156592869 156592869 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:156592869C>T uc003lwn.3 - 0 411 c.311G>A c.(310-312)cGg>cAg p.R104Q NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 104 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTGGCAAACCGGCCCCATCT 0.542 RANBP17 64901 broad.mit.edu 37 5 170725815 170725815 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:170725815C>T uc003mba.3 + 27 3362 c.3220C>T c.(3220-3222)Cgc>Tgc p.R1074C RANBP17_uc003mbb.3_Missense_Mutation_p.R399C|RANBP17_uc010jjs.3_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 1074 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGAGGCGTTGCGCAGTGATGG 0.502 T TRD@ ALL FBXW11 23291 broad.mit.edu 37 5 171299943 171299943 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:171299943G>A uc003mbm.1 - 8 1581 c.1210C>T c.(1210-1212)Cgg>Tgg p.R404W FBXW11_uc011dey.1_Missense_Mutation_p.R372W|FBXW11_uc003mbl.1_Missense_Mutation_p.R391W|FBXW11_uc003mbn.1_Missense_Mutation_p.R370W NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA. 404 cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.R404Q(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCAATGCCCCGCTTGTGCCCA 0.463 BCLAF1 9774 broad.mit.edu 37 6 136597406 136597406 + Missense_Mutation SNP C C A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr6:136597406C>A uc003qgx.1 - 4 1510 c.1257G>T c.(1255-1257)caG>caT p.Q419H BCLAF1_uc003qgy.1_Missense_Mutation_p.Q417H|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.Q417H|BCLAF1_uc003qgw.1_Intron NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 419 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AACTTTTACCCTGATCTGCGA 0.418 CDK13 8621 broad.mit.edu 37 7 40127783 40127783 + Nonsense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:40127783C>T uc003thh.4 + 11 3370 c.3088C>T c.(3088-3090)Cag>Tag p.Q1030* CDK13_uc003thi.4_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.3_Nonsense_Mutation_p.Q81* NM_003718 NP_003709 Q14004 CDK13_HUMAN Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA. 1030 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.K1029K(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AAGACAGAAGCAGATGGGCAT 0.423 ABCA13 154664 broad.mit.edu 37 7 48287917 48287917 + Missense_Mutation SNP C C G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:48287917C>G uc003toq.2 + 13 1765 c.1741C>G c.(1741-1743)Ctt>Gtt p.L581V ABCA13_uc010kyr.2_Missense_Mutation_p.L84V NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 581 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTGGCAGGAACTTGAGATGCA 0.428 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C C T rs149840192 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:55221822C>T uc003tqk.3 + 6 1112 c.866C>T c.(865-867)gCc>gTc p.A289V EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PSPH 5723 broad.mit.edu 37 7 56088826 56088826 + Missense_Mutation SNP C C G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:56088826C>G uc003trj.3 - 1 482 c.167G>C c.(166-168)aGa>aCa p.R56T PSPH_uc003trh.3_Missense_Mutation_p.R27T|PSPH_uc003tri.3_Missense_Mutation_p.R27T NM_004577 NP_004568 P78330 SERB_HUMAN Homo sapiens phosphoserine phosphatase (PSPH), mRNA. 27 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCCTTCTTCTCTGATGACCGT 0.448 ZNF735 730291 broad.mit.edu 37 7 63680236 63680236 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:63680236C>T uc011kdn.2 + 3 807 c.807C>T c.(805-807)taC>taT p.Y269Y NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding AGAAACCCTACGCATGTGAAG 0.458 ZNF107 51427 broad.mit.edu 37 7 64167281 64167281 + Missense_Mutation SNP C C A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:64167281C>A uc003ttd.3 + 6 1385 c.599C>A c.(598-600)gCc>gAc p.A200D ZNF107_uc003tte.3_Missense_Mutation_p.A200D NM_016220 NP_057304 Q9UII5 ZN107_HUMAN Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA. 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TTTAAACAGGCCTCACACCTT 0.373 MAGI2 9863 broad.mit.edu 37 7 77807399 77807399 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:77807399C>T uc003ugx.3 - 13 2586 c.2332G>A c.(2332-2334)Gat>Aat p.D778N MAGI2_uc003ugy.3_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 778 PDZ 4. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGATGAACATCCAATTCCTTA 0.453 PCLO 27445 broad.mit.edu 37 7 82582560 82582560 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:82582560G>A uc003uhx.2 - 4 7998 c.7709C>T c.(7708-7710)cCa>cTa p.P2570L PCLO_uc003uhv.2_Missense_Mutation_p.P2570L|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2501 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGAAAATCTTGGTGAAGACTT 0.403 GRM3 2913 broad.mit.edu 37 7 86416220 86416220 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:86416220G>A uc003uid.3 + 2 2211 c.1112G>A c.(1111-1113)cGc>cAc p.R371H GRM3_uc010lef.3_Missense_Mutation_p.R369H|GRM3_uc010leg.3_Missense_Mutation_p.R243H|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 371 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AACCACAGGCGCGTCTGCGAC 0.567 GRM3 2913 broad.mit.edu 37 7 86416334 86416334 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:86416334G>A uc003uid.3 + 2 2325 c.1226G>A c.(1225-1227)cGc>cAc p.R409H GRM3_uc010lef.3_Missense_Mutation_p.R407H|GRM3_uc010leg.3_Missense_Mutation_p.R281H|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 409 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AAAATGCAGCGCACCCTCTGT 0.498 GRM3 2913 broad.mit.edu 37 7 86468918 86468918 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:86468918C>T uc003uid.3 + 3 3187 c.2088C>T c.(2086-2088)atC>atT p.I696I GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.I568I|GRM3_uc010leh.3_Silent_p.I288I NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 696 synaptic transmission integral to plasma membrane p.I696T(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGGGTCTGATCCTGGTGCAAA 0.527 STEAP1 26872 broad.mit.edu 37 7 89791325 89791325 + Missense_Mutation SNP T T C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:89791325T>C uc003ujx.3 + 3 895 c.695T>C c.(694-696)cTg>cCg p.L232P STEAP1_uc010lem.3_Missense_Mutation_p.L232P NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA. 232 Ferric oxidoreductase. electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) ATACTGGCTCTGTTGGCTGTG 0.378 TRPV5 56302 broad.mit.edu 37 7 142611855 142611855 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:142611855G>A uc003wby.1 - 11 1738 c.1474C>T c.(1474-1476)Cgt>Tgt p.R492C NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 492 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.R492H(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CAGCAGAAACGCATTAGGTCT 0.463 GATA4 2626 broad.mit.edu 37 8 11607623 11607623 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr8:11607623G>A uc011kxc.1 + 2 1247 c.790G>A c.(790-792)Gcc>Acc p.A264T GATA4_uc003wub.1_Missense_Mutation_p.A57T|GATA4_uc003wuc.2_Missense_Mutation_p.A263T NM_002052 NP_002043 P43694 GATA4_HUMAN Homo sapiens GATA binding protein 4 (GATA4), mRNA. 263 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CTTGCAGTCCGCCTCCCGCCG 0.637 ENPP2 5168 broad.mit.edu 37 8 120629759 120629759 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr8:120629759C>T uc003yos.2 - 5 610 c.524G>A c.(523-525)cGt>cAt p.R175H ENPP2_uc010mdd.2_Missense_Mutation_p.R175H|ENPP2_uc003yot.2_Missense_Mutation_p.R175H NM_006209 NP_006200 Q13822 ENPP2_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA. 175 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTATGATGCACGGAAGCCATC 0.373 BAI1 575 broad.mit.edu 37 8 143625027 143625027 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr8:143625027C>T uc003ywm.3 + 28 4698 c.4515C>T c.(4513-4515)caC>caT p.H1505H NM_001702 NP_001693 O14514 BAI1_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA. 1505 Necessary for interaction with MAGI1. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AGCTGCAGCACGCAGCGGAGA 0.662 SPATA31C2 645961 broad.mit.edu 37 9 90746228 90746228 + Missense_Mutation SNP A A T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr9:90746228A>T uc011lti.2 - 3 1753 c.1724T>A c.(1723-1725)aTc>aAc p.I575N NM_001166137 NP_001159609 B4DYI2 B4DYI2_HUMAN Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA. 575 GGCTTTCAGGATGTTTTCTAT 0.522 OR13C9 286362 broad.mit.edu 37 9 107379553 107379553 + Silent SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr9:107379553C>T uc011lvr.2 - 0 933 c.933G>A c.(931-933)ccG>ccA p.P311P NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA. 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L310I(1) breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 ACCTTCTGTTCGGTAGGTGTT 0.353 PRRC2B 84726 broad.mit.edu 37 9 134350722 134350722 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr9:134350722G>A uc004can.4 + 14 3261 c.3206G>A c.(3205-3207)cGt>cAt p.R1069H PRRC2B_uc010mzj.1_Missense_Mutation_p.R652H|PRRC2B_uc004cao.4_Missense_Mutation_p.R427H NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 1069 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GGCCGGGGCCGTGGTTTCAGA 0.612 CEL 1056 broad.mit.edu 37 9 135945963 135945963 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr9:135945963G>A uc010naa.1 + 9 1427 c.1411G>A c.(1411-1413)Gcc>Acc p.A471T NM_001807 NP_001798 P19835 CEL_HUMAN Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA. 468 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GAAGCCCTTCGCCACCCCCAC 0.582 EGFL6 25975 broad.mit.edu 37 X 13624543 13624543 + Missense_Mutation SNP G G A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chrX:13624543G>A uc004cvj.3 + 5 853 c.566G>A c.(565-567)cGa>cAa p.R189Q EGFL6_uc004cvi.3_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 189 EGF-like 4; calcium-binding (Potential). cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 CCCTACAATCGAAGATGTGTG 0.398