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 LPHN2 23266 broad.mit.edu 37 1 82456569 82456569 + Missense_Mutation SNP A A C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr1:82456569A>C uc001dit.3 + 21 4133 c.3952A>C c.(3952-3954)AGC>CGC p.S1318R LPHN2_uc001dis.2_Missense_Mutation_p.S298R|LPHN2_uc001diu.2_Missense_Mutation_p.S1318R|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.S945R NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1374 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCTTTATACAAGCATGCCCAA 0.493000 C1orf51 148523 broad.mit.edu 37 1 150256881 150256881 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr1:150256881G>A uc001euh.2 + 4 624 c.488G>A c.(487-489)CGT>CAT p.R163H C1orf51_uc001eui.2_Missense_Mutation_p.R75H|C1orf51_uc001euj.2_Missense_Mutation_p.R163H NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 163 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGGATCCAGCGTATTGTAGGT 0.468000 SPTA1 6708 broad.mit.edu 37 1 158617375 158617375 + Missense_Mutation SNP T T C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr1:158617375T>C uc001fst.1 - 27 4049 c.3850A>G c.(3850-3852)AGC>GGC p.S1284G NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1284 Spectrin 12. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCATTTAGGCTCTCCTTACGA 0.542000 TNR 7143 broad.mit.edu 37 1 175355352 175355352 + Silent SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr1:175355352G>T uc001gkp.1 - 6 1674 c.1593C>A c.(1591-1593)GTC>GTA p.V531V TNR_uc009wwu.1_Silent_p.V531V NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 531 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GAATGAAATCGACTTTGGCTC 0.577000 FAM89A 375061 broad.mit.edu 37 1 231155737 231155737 + Missense_Mutation SNP C C T rs61740910 byFrequency TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr1:231155737C>T uc001hui.2 - 2 465 c.427G>A c.(427-429)GAT>AAT p.D143N FAM89A_uc009xfm.2_Missense_Mutation_p.D154N|MIR1182_hsa-mir-1182|MI0006275_5'Flank NM_198552 NP_940954 Q96GI7 FA89A_HUMAN family with sequence similarity 89, member A 143 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TCCTCTTCATCGAAGAAGCCG 0.587000 B3GALNT2 148789 broad.mit.edu 37 1 235629002 235629002 + Silent SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr1:235629002G>A uc001hxc.2 - 7 1021 c.792C>T c.(790-792)TTC>TTT p.F264F B3GALNT2_uc001hxd.1_Silent_p.F305F NM_152490 NP_689703 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 264 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity breast(1) 1 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) CACCTTCCAAGAATTCATGAG 0.363000 OR6F1 343169 broad.mit.edu 37 1 247875986 247875986 + Missense_Mutation SNP C C A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr1:247875986C>A uc001idj.1 - 1 72 c.72G>T c.(70-72)CAG>CAT p.Q24H NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGAGAGAGAGCTGAAGAGTTT 0.463000 OR2M4 26245 broad.mit.edu 37 1 248402739 248402739 + Missense_Mutation SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr1:248402739G>T uc010pzh.1 + 1 509 c.509G>T c.(508-510)AGC>ATC p.S170I NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTTACTGCAGCTCTCTGGAA 0.433000 GTPBP4 23560 broad.mit.edu 37 10 1053033 1053033 + Silent SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr10:1053033C>T uc001ift.2 + 10 1149 c.1078C>T c.(1078-1080)CTG>TTG p.L360L GTPBP4_uc010qac.1_Silent_p.L151L|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.L244L|GTPBP4_uc010qae.1_Silent_p.L313L NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 360 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GCTGAATAGACTGCACCTGGC 0.507000 PRKG1 5592 broad.mit.edu 37 10 54041923 54041923 + Missense_Mutation SNP G G C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr10:54041923G>C uc001jjm.2 + 14 1705 c.1511G>C c.(1510-1512)GGC>GCC p.G504A PRKG1_uc001jjo.2_Missense_Mutation_p.G519A|PRKG1_uc009xow.1_Missense_Mutation_p.G222A|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 504 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GTTGATTTTGGCTTTGCAAAG 0.343000 BICC1 80114 broad.mit.edu 37 10 60588555 60588555 + Silent SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr10:60588555G>A uc001jki.1 + 21 2829 c.2829G>A c.(2827-2829)TCG>TCA p.S943S NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 943 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 TTTTTGAATCGCCAAATGCAC 0.468000 C11orf35 256329 broad.mit.edu 37 11 557633 557633 + Missense_Mutation SNP G G A rs138095963 TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr11:557633G>A uc001lpx.2 - 6 626 c.563C>T c.(562-564)ACG>ATG p.T188M uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 188 pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGTCTCTGCCGTCACTACCTG 0.612000 UBQLN3 50613 broad.mit.edu 37 11 5528867 5528867 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr11:5528867G>A uc001may.1 - 2 2008 c.1922C>T c.(1921-1923)ACG>ATG p.T641M HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 641 UBA. ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCGCCCCCCGTAGCAATGAG 0.537000 MRGPRX3 117195 broad.mit.edu 37 11 18159146 18159146 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr11:18159146C>T uc001mnu.2 + 3 758 c.397C>T c.(397-399)CGC>TGC p.R133C NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 133 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 GTACCACTGCCGCCGCCCCAG 0.572000 OR8J1 219477 broad.mit.edu 37 11 56128624 56128624 + Missense_Mutation SNP C C A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr11:56128624C>A uc010rjh.1 + 1 902 c.902C>A c.(901-903)GCT>GAT p.A301D NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTGAAGACTGCTCTACAGAGA 0.368000 TRPC6 7225 broad.mit.edu 37 11 101375501 101375501 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr11:101375501G>A uc001pgk.3 - 2 624 c.199C>T c.(199-201)CGG>TGG p.R67W TRPC6_uc009ywy.2_Missense_Mutation_p.R67W|TRPC6_uc009ywz.1_Missense_Mutation_p.R67W NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 67 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GTCTGCCGCCGGTGAGCCAGT 0.463000 MCAM 4162 broad.mit.edu 37 11 119182655 119182655 + Missense_Mutation SNP C C A rs1131437 TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr11:119182655C>A uc001pwf.2 - 10 1177 c.1148G>T c.(1147-1149)GGC>GTC p.G383V MCAM_uc001pwg.1_5'Flank NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 383 Ig-like C2-type 2.|Extracellular (Potential). G -> D (in Ref. 1, 2 and 3). anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CAGCACCTGGCCTGTCTGGGA 0.642000 HEPACAM 220296 broad.mit.edu 37 11 124794667 124794667 + Silent SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr11:124794667G>A uc001qbk.2 - 2 790 c.384C>T c.(382-384)GAC>GAT p.D128D HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.D128D NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN hepatocyte cell adhesion molecule precursor 128 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane pancreas(1) 1 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGAAGGTGTCGTCGGTGATGG 0.552000 FGF6 2251 broad.mit.edu 37 12 4553300 4553300 + Missense_Mutation SNP G G A rs140216440 TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr12:4553300G>A uc001qmr.1 - 2 493 c.449C>T c.(448-450)ACG>ATG p.T150M NM_020996 NP_066276 P10767 FGF6_HUMAN fibroblast growth factor 6 precursor 150 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity lung(2)|ovary(1) 3 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) TGAACTCACCGTTGCGTACAA 0.478000 CLEC1B 51266 broad.mit.edu 37 12 10147790 10147790 + Missense_Mutation SNP T T A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr12:10147790T>A uc001qwu.2 - 5 694 c.494A>T c.(493-495)AAG>ATG p.K165M CLEC1B_uc009zhd.2_Missense_Mutation_p.K132M NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 165 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 CTCATTCGACTTCTGGCGAGA 0.423000 IAPP 3375 broad.mit.edu 37 12 21531349 21531349 + Missense_Mutation SNP T T A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr12:21531349T>A uc001rev.2 + 3 411 c.259T>A c.(259-261)TTG>ATG p.L87M SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron NM_000415 NP_000406 P10997 IAPP_HUMAN islet amyloid polypeptide precursor 87 apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction extracellular region|soluble fraction hormone activity 0 Perindopril(DB00790) ACTGAATTACTTGCCCCTTTA 0.383000 PPFIBP1 8496 broad.mit.edu 37 12 27829368 27829368 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr12:27829368C>T uc001ric.1 + 18 1846 c.1469C>T c.(1468-1470)GCT>GTT p.A490V PPFIBP1_uc010sjr.1_Missense_Mutation_p.A321V|PPFIBP1_uc001rib.1_Missense_Mutation_p.A473V|PPFIBP1_uc001ria.2_Missense_Mutation_p.A459V|PPFIBP1_uc001rid.1_Missense_Mutation_p.A337V|PPFIBP1_uc001rif.1_5'Flank NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 490 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) CAGGACAGAGCTCCGGCAGAA 0.552000 PDZRN4 29951 broad.mit.edu 37 12 41946487 41946487 + Missense_Mutation SNP A A C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr12:41946487A>C uc010skn.1 + 6 704 c.636A>C c.(634-636)CAA>CAC p.Q212H PDZRN4_uc001rmq.3_Missense_Mutation_p.Q153H|PDZRN4_uc009zjz.2_Missense_Mutation_p.Q151H|PDZRN4_uc001rmr.2_Missense_Mutation_p.Q38H NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 411 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTAGCAGTCAAGAGAAGCTGG 0.468000 E2F7 144455 broad.mit.edu 37 12 77417916 77417916 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr12:77417916G>A uc001sym.3 - 13 2851 c.2615C>T c.(2614-2616)ACG>ATG p.T872M E2F7_uc009zse.2_3'UTR NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 872 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 CTTGAAAAACGTCTCACGATG 0.473000 TCTN2 79867 broad.mit.edu 37 12 124171418 124171418 + Silent SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr12:124171418G>T uc001ufp.2 + 6 728 c.600G>T c.(598-600)CGG>CGT p.R200R TCTN2_uc009zya.2_Silent_p.R199R NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 200 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGTTCAGACGGTCCTGCTTCA 0.532000 FRY 10129 broad.mit.edu 37 13 32760399 32760399 + Missense_Mutation SNP C C G TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr13:32760399C>G uc001utx.2 + 27 3818 c.3322C>G c.(3322-3324)CAC>GAC p.H1108D FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1108 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTCCCTAGTTCACCACCGAAG 0.413000 PRKCH 5583 broad.mit.edu 37 14 61917668 61917668 + Nonsense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr14:61917668C>T uc001xfn.2 + 6 1116 c.811C>T c.(811-813)CGA>TGA p.R271* PRKCH_uc010tsa.1_Nonsense_Mutation_p.R110* NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 271 Phorbol-ester/DAG-type 2. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GGGAATAATGCGACAAGGACT 0.488000 RGS6 9628 broad.mit.edu 37 14 72976881 72976881 + Nonsense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr14:72976881C>T uc001xna.3 + 14 1508 c.985C>T c.(985-987)CGA>TGA p.R329* RGS6_uc010ttn.1_Nonsense_Mutation_p.R329*|RGS6_uc001xmx.3_Nonsense_Mutation_p.R329*|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Nonsense_Mutation_p.R329*|RGS6_uc010ttp.1_Nonsense_Mutation_p.R260*|RGS6_uc001xmz.1_Nonsense_Mutation_p.R190* NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 329 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGCCAACAGCGAGTAAAAAG 0.458000 TP53BP1 7158 broad.mit.edu 37 15 43699759 43699759 + Missense_Mutation SNP A A G TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr15:43699759A>G uc001zrs.2 - 28 5889 c.5741T>C c.(5740-5742)TTA>TCA p.L1914S TP53BP1_uc010udp.1_Missense_Mutation_p.L1912S|TP53BP1_uc001zrq.3_Missense_Mutation_p.L1917S|TP53BP1_uc001zrr.3_Missense_Mutation_p.L1919S|TP53BP1_uc001zrp.2_Missense_Mutation_p.L331S NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1914 BRCT 2. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AAATACCCCTAAAGCAATATC 0.493000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes ACAN 176 broad.mit.edu 37 15 89382268 89382268 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr15:89382268G>A uc010upo.1 + 3 819 c.445G>A c.(445-447)GTG>ATG p.V149M ACAN_uc002bmx.2_Missense_Mutation_p.V149M|ACAN_uc010upp.1_Missense_Mutation_p.V149M|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 149 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCTGGAAGTCGTGGTGAAAGG 0.557000 ACSM2B 348158 broad.mit.edu 37 16 20563552 20563552 + Silent SNP A A G TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr16:20563552A>G uc002dhj.3 - 7 1018 c.808T>C c.(808-810)TTG>CTG p.L270L ACSM2B_uc002dhk.3_Silent_p.L270L|ACSM2B_uc010bwf.1_Silent_p.L270L NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 270 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 AGTGAGCCCAAGATGTTCAGT 0.423000 GTF3C1 2975 broad.mit.edu 37 16 27472881 27472881 + Silent SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr16:27472881G>T uc002dov.1 - 37 6160 c.6120C>A c.(6118-6120)GGC>GGA p.G2040G GTF3C1_uc002dou.2_Silent_p.G2015G NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 2040 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GGGACTCCAGGCCCTGGAGAC 0.483000 N4BP1 9683 broad.mit.edu 37 16 48594664 48594664 + Splice_Site SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr16:48594664C>T uc002efp.2 - 2 2126 c.1889_splice c.e2+1 p.T630_splice NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) AATGGACTTACGTAATTGCAA 0.338000 CDH1 999 broad.mit.edu 37 16 68847399 68847399 + Splice_Site SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr16:68847399G>T uc002ewg.1 + 9 1444 c.1320_splice c.e9+1 p.K440_splice CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Intron NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(3) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AACAGCAAAGGTTTGTATGGT 0.458000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer P2RX1 5023 broad.mit.edu 37 17 3802234 3802234 + Silent SNP G G A rs139414872 TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr17:3802234G>A uc002fww.2 - 9 1401 c.960C>T c.(958-960)GAC>GAT p.D320D NM_002558 NP_002549 P51575 P2RX1_HUMAN purinergic receptor P2X1 320 Extracellular (Potential). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity ovary(1)|skin(1) 2 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) TCACCTTGCCGTCCACCAGGA 0.527000 PLD2 5338 broad.mit.edu 37 17 4717978 4717978 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr17:4717978G>A uc002fzc.2 + 12 1246 c.1145G>A c.(1144-1146)AGA>AAA p.R382K PLD2_uc010vsj.1_Missense_Mutation_p.R239K|PLD2_uc002fzd.2_Missense_Mutation_p.R382K NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 382 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) GATGACTGGAGACTGGACATT 0.592000 GFAP 2670 broad.mit.edu 37 17 42992568 42992568 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr17:42992568G>A uc002ihq.2 - 1 347 c.287C>T c.(286-288)GCG>GTG p.A96V GFAP_uc002ihr.2_Missense_Mutation_p.A96V|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 96 Rod.|Coil 1A. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) AGCAGCCAGCGCCTTGTTTTG 0.612000 ITGB4 3691 broad.mit.edu 37 17 73723521 73723521 + Silent SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr17:73723521C>T uc002jpg.2 + 4 386 c.199C>T c.(199-201)CTG>TTG p.L67L ITGB4_uc002jph.2_Silent_p.L67L|ITGB4_uc010dgo.2_Silent_p.L67L|ITGB4_uc002jpi.3_Silent_p.L67L|ITGB4_uc010dgp.1_Silent_p.L67L|ITGB4_uc002jpj.2_Silent_p.L67L NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 67 PSI.|Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCAGGCGGAGCTGCTGGCCGC 0.672000 MYOM1 8736 broad.mit.edu 37 18 3188900 3188900 + Missense_Mutation SNP T T C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr18:3188900T>C uc002klp.2 - 4 951 c.617A>G c.(616-618)AAG>AGG p.K206R MYOM1_uc002klq.2_Missense_Mutation_p.K206R NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 206 5.|6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CGTGGACTGCTTGGATGCTGT 0.532000 KLHL14 57565 broad.mit.edu 37 18 30349740 30349740 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr18:30349740G>A uc002kxm.1 - 2 1203 c.815C>T c.(814-816)CCG>CTG p.P272L NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 272 BACK. cytosol|endoplasmic reticulum membrane ovary(1) 1 CACCAGCTCCGGGGCCGGGAT 0.637000 EMR1 2015 broad.mit.edu 37 19 6904148 6904148 + Missense_Mutation SNP C C A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr19:6904148C>A uc002mfw.2 + 8 942 c.904C>A c.(904-906)CCC>ACC p.P302T EMR1_uc010dvc.2_Missense_Mutation_p.P302T|EMR1_uc010dvb.2_Missense_Mutation_p.P250T|EMR1_uc010xji.1_Missense_Mutation_p.P161T|EMR1_uc010xjj.1_Intron NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 302 Extracellular (Potential).|EGF-like 6; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) AGGCTTTCATCCCAATCCAGA 0.478000 NDUFA13 51079 broad.mit.edu 37 19 19646380 19646380 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr19:19646380G>A uc010xqy.1 + 7 1091 c.832G>A c.(832-834)GTA>ATA p.V278I YJEFN3_uc002nmt.1_Missense_Mutation_p.V196I|YJEFN3_uc010ecf.1_Missense_Mutation_p.V146I|YJEFN3_uc002nmu.1_RNA|CILP2_uc002nmv.3_5'Flank|CILP2_uc002nmw.3_5'Flank NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha Error:Variant_position_missing_in_Q9P0J0_after_alignment apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) GGTGGATGCCGTACTGGGCCC 0.692000 ZNF99 7652 broad.mit.edu 37 19 22939932 22939932 + Missense_Mutation SNP T T G TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr19:22939932T>G uc010xrh.1 - 6 2399 c.2399A>C c.(2398-2400)AAG>ACG p.K800T NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTGTAGGGCTTCTCCCCAGT 0.373000 ZNF567 163081 broad.mit.edu 37 19 37203687 37203687 + Missense_Mutation SNP T T G TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr19:37203687T>G uc010xtl.1 + 5 363 c.141T>G c.(139-141)TGT>TGG p.C47W ZNF567_uc002oeo.1_Missense_Mutation_p.C47W|ZNF567_uc010xtk.1_Missense_Mutation_p.C47W|ZNF567_uc002oep.3_Missense_Mutation_p.C16W|ZNF567_uc002oeq.1_Missense_Mutation_p.C16W NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTTCAGGGTGTCACATGACCA 0.428000 ZNF808 388558 broad.mit.edu 37 19 53057977 53057977 + Missense_Mutation SNP T T G TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr19:53057977T>G uc010epq.1 + 5 1985 c.1808T>G c.(1807-1809)GTT>GGT p.V603G ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 603 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TGTGACAAAGTTTTTGGTCAG 0.383000 ZSCAN1 284312 broad.mit.edu 37 19 58565264 58565264 + Missense_Mutation SNP C C T rs144536843 byFrequency TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr19:58565264C>T uc002qrc.1 + 6 1319 c.1072C>T c.(1072-1074)CGG>TGG p.R358W NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 358 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CAAGGGCCCCCGGGAGTCCGT 0.662000 UBE2M 9040 broad.mit.edu 37 19 59067588 59067588 + Silent SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr19:59067588G>A uc002qtl.3 - 6 1015 c.420C>T c.(418-420)AAC>AAT p.N140N CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank NM_003969 NP_003960 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 140 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity ovary(1)|pancreas(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GGTCCTCGGGGTTGGGCTCCT 0.612000 RASGRP3 25780 broad.mit.edu 37 2 33748980 33748980 + Missense_Mutation SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr2:33748980G>T uc002rox.2 + 9 1178 c.551G>T c.(550-552)TGC>TTC p.C184F RASGRP3_uc010ync.1_Missense_Mutation_p.C184F|RASGRP3_uc002roy.2_Missense_Mutation_p.C184F NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 184 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) ATCCATGGCTGCCTGGAGAAT 0.383000 DYSF 8291 broad.mit.edu 37 2 71744167 71744167 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr2:71744167C>T uc002sie.2 + 9 1280 c.904C>T c.(904-906)CGG>TGG p.R302W DYSF_uc010feg.2_Missense_Mutation_p.R333W|DYSF_uc010feh.2_Missense_Mutation_p.R302W|DYSF_uc002sig.3_Missense_Mutation_p.R302W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R302W|DYSF_uc010fef.2_Missense_Mutation_p.R333W|DYSF_uc010fei.2_Missense_Mutation_p.R333W|DYSF_uc010fek.2_Missense_Mutation_p.R334W|DYSF_uc010fej.2_Missense_Mutation_p.R303W|DYSF_uc010fel.2_Missense_Mutation_p.R303W|DYSF_uc010feo.2_Missense_Mutation_p.R334W|DYSF_uc010fem.2_Missense_Mutation_p.R303W|DYSF_uc010fen.2_Missense_Mutation_p.R334W|DYSF_uc002sif.2_Missense_Mutation_p.R303W NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 302 Cytoplasmic (Potential).|C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CGGGGAGTTCCGGGTAATTGC 0.512000 HK2 3099 broad.mit.edu 37 2 75115135 75115135 + Silent SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr2:75115135G>A uc002snd.2 + 16 4251 c.2325G>A c.(2323-2325)CGG>CGA p.R775R NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 775 Catalytic. R -> Q. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 TCTCAGAGCGGCTCAAGACAA 0.498000 CTNNA2 1496 broad.mit.edu 37 2 80101439 80101439 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr2:80101439G>A uc010ysh.1 + 5 828 c.823G>A c.(823-825)GAG>AAG p.E275K CTNNA2_uc010yse.1_Missense_Mutation_p.E275K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E275K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E275K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 275 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GGGCATCGGCGAGCTGGCTGC 0.527000 SFRS15 57466 broad.mit.edu 37 21 33068535 33068535 + Splice_Site SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr21:33068535C>T uc002ypd.2 - 9 1386 c.960_splice c.e9-1 p.F320_splice SFRS15_uc002ype.2_Splice_Site_p.F320_splice|SFRS15_uc010glu.2_Splice_Site_p.F305_splice|SFRS15_uc002ypf.1_Splice_Site NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform nucleus nucleotide binding|RNA binding 0 AGGAAAGCCACTAAAAAAAGG 0.403000 CACNA1I 8911 broad.mit.edu 37 22 40015370 40015370 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr22:40015370G>A uc003ayc.2 + 4 538 c.538G>A c.(538-540)GTG>ATG p.V180M CACNA1I_uc003ayd.2_Missense_Mutation_p.V180M|CACNA1I_uc003aye.2_Missense_Mutation_p.V95M|CACNA1I_uc003ayf.2_Missense_Mutation_p.V95M NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 180 I.|Helical; Name=S4 of repeat I; (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CATCCGCACCGTGCGCGTCCT 0.612000 BTD 686 broad.mit.edu 37 3 15686531 15686531 + Missense_Mutation SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr3:15686531G>T uc003cah.2 + 4 1271 c.1168G>T c.(1168-1170)GCT>TCT p.A390S BTD_uc011avv.1_Missense_Mutation_p.A392S|BTD_uc011avw.1_Missense_Mutation_p.A392S|BTD_uc011avx.1_Missense_Mutation_p.A370S NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 390 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 GAACGTGAATGCTCCTCCCAC 0.478000 TGFBR2 7048 broad.mit.edu 37 3 30715619 30715619 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr3:30715619C>T uc003ceo.2 + 5 1659 c.1277C>T c.(1276-1278)GCT>GTT p.A426V TGFBR2_uc003cen.2_Missense_Mutation_p.A451V NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 426 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 AGATACATGGCTCCAGAAGTC 0.448000 TGFBR2 7048 broad.mit.edu 37 3 30715667 30715667 + Missense_Mutation SNP T T C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr3:30715667T>C uc003ceo.2 + 5 1707 c.1325T>C c.(1324-1326)TTC>TCC p.F442S TGFBR2_uc003cen.2_Missense_Mutation_p.F467S NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 442 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GTTGAGTCCTTCAAGCAGACC 0.488000 RHOA 387 broad.mit.edu 37 3 49412898 49412898 + Missense_Mutation SNP T T C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr3:49412898T>C uc003cwu.2 - 2 401 c.125A>G c.(124-126)TAT>TGT p.Y42C RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 42 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ATCTGCCACATAGTTCTCAAA 0.433000 CACNA1D 776 broad.mit.edu 37 3 53785816 53785816 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr3:53785816G>A uc003dgv.3 + 28 3720 c.3557G>A c.(3556-3558)CGG>CAG p.R1186Q CACNA1D_uc003dgu.3_Missense_Mutation_p.R1206Q|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1186Q|CACNA1D_uc003dgw.3_Missense_Mutation_p.R853Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.R334Q NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1186 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CGTCCCTTGCGGAGATACATC 0.507000 TMEM108 66000 broad.mit.edu 37 3 133098617 133098617 + Missense_Mutation SNP T T C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr3:133098617T>C uc003eph.2 + 4 336 c.62T>C c.(61-63)CTG>CCG p.L21P TMEM108_uc003epi.2_Missense_Mutation_p.L21P|TMEM108_uc003epj.1_Missense_Mutation_p.L21P|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_5'UTR NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 21 integral to membrane ovary(2)|skin(2) 4 ATCTTGGCACTGACCGAAGCG 0.552000 KIAA1211 57482 broad.mit.edu 37 4 57181091 57181091 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr4:57181091G>A uc003hbk.2 + 8 1814 c.1423G>A c.(1423-1425)GAT>AAT p.D475N KIAA1211_uc010iha.2_Missense_Mutation_p.D468N|KIAA1211_uc011bzz.1_Missense_Mutation_p.D385N|KIAA1211_uc003hbm.1_Missense_Mutation_p.D361N NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 475 Glu-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CCAGGGGGCCGATCGTCCTGG 0.632000 SEC24D 9871 broad.mit.edu 37 4 119736228 119736228 + Silent SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr4:119736228C>T uc003ici.3 - 6 1028 c.756G>A c.(754-756)CCG>CCA p.P252P SEC24D_uc003icj.3_Silent_p.P253P|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 252 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 GGGGCTGTGGCGGACCAGCCA 0.517000 FGA 2243 broad.mit.edu 37 4 155506853 155506853 + Silent SNP A A C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr4:155506853A>C uc003iod.1 - 5 1786 c.1728T>G c.(1726-1728)TCT>TCG p.S576S FGA_uc003ioe.1_Silent_p.S576S|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 576 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TGTAACTTGAAGATTTACCAC 0.443000 ADAMTS16 170690 broad.mit.edu 37 5 5242289 5242289 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr5:5242289G>A uc003jdl.2 + 17 2785 c.2647G>A c.(2647-2649)GTG>ATG p.V883M ADAMTS16_uc003jdk.1_Missense_Mutation_p.V883M NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 883 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TGAGTGCTCCGTGTCCTGCGG 0.617000 PCDHB2 56133 broad.mit.edu 37 5 140474440 140474440 + Missense_Mutation SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr5:140474440G>T uc003lil.2 + 1 204 c.66G>T c.(64-66)TTG>TTT p.L22F PCDHB2_uc003lim.1_Intron NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 22 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTTTGTTTTGCTGGGCATAG 0.537000 C6orf201 404220 broad.mit.edu 37 6 4087935 4087935 + Silent SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr6:4087935C>T uc003mwa.3 + 2 828 c.60C>T c.(58-60)CGC>CGT p.R20R C6orf146_uc010jnq.1_5'Flank|C6orf146_uc003mvy.2_5'Flank|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Silent_p.R20R|C6orf201_uc003mwb.3_RNA NM_001085401 NP_001078870 Q7Z4U5 CF201_HUMAN hypothetical protein LOC404220 20 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) TTTATTCCCGCAAGAGTGAAG 0.473000 FRS3 10817 broad.mit.edu 37 6 41744669 41744669 + Silent SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr6:41744669G>T uc003orc.1 - 3 301 c.57C>A c.(55-57)ACC>ACA p.T19T NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 19 IRS-type PTB. fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCTTGAACTTGGTGGGGTGGT 0.542000 SYNE1 23345 broad.mit.edu 37 6 152563476 152563476 + Missense_Mutation SNP G G T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr6:152563476G>T uc010kiw.2 - 107 20394 c.19792C>A c.(19792-19794)CTG>ATG p.L6598M SYNE1_uc010kiv.2_Missense_Mutation_p.L1122M|SYNE1_uc003qos.3_Missense_Mutation_p.L1122M|SYNE1_uc003qot.3_Missense_Mutation_p.L6527M|SYNE1_uc003qou.3_Missense_Mutation_p.L6598M NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6598 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGTCAGCCAGATCTTGTAGG 0.468000 HNSCC(10;0.0054) OSBPL3 26031 broad.mit.edu 37 7 24874246 24874246 + Silent SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr7:24874246G>A uc003sxf.2 - 15 2010 c.1605C>T c.(1603-1605)AAC>AAT p.N535N OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.N499N|OSBPL3_uc003sxh.2_Silent_p.N504N|OSBPL3_uc003sxi.2_Silent_p.N468N|OSBPL3_uc003sxj.1_Silent_p.N264N|OSBPL3_uc003sxk.1_Silent_p.N233N NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 535 lipid transport lipid binding|protein binding skin(1) 1 CCTTCCCGATGTTGTTCCTCA 0.617000 GLI3 2737 broad.mit.edu 37 7 42011956 42011956 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr7:42011956C>T uc011kbh.1 - 13 2174 c.2083G>A c.(2083-2085)GTC>ATC p.V695I GLI3_uc011kbg.1_Missense_Mutation_p.V636I NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 695 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TCTGCCTTGACGGTTTTCACC 0.552000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome ADAM22 53616 broad.mit.edu 37 7 87564386 87564386 + Missense_Mutation SNP T T C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr7:87564386T>C uc003ujn.2 + 2 210 c.131T>C c.(130-132)TTC>TCC p.F44S ADAM22_uc003uji.1_Missense_Mutation_p.F43S|ADAM22_uc003ujj.1_Missense_Mutation_p.F44S|ADAM22_uc003ujk.1_Missense_Mutation_p.F44S|ADAM22_uc003ujl.1_Missense_Mutation_p.F44S|ADAM22_uc003ujm.2_Missense_Mutation_p.F44S|ADAM22_uc003ujo.2_Missense_Mutation_p.F44S|ADAM22_uc003ujp.1_Missense_Mutation_p.F96S NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 44 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GAAAACCGCTTCGTGGAGCGC 0.612000 PTPRZ1 5803 broad.mit.edu 37 7 121652018 121652018 + Missense_Mutation SNP A A C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr7:121652018A>C uc003vjy.2 + 12 3313 c.2918A>C c.(2917-2919)AAG>ACG p.K973T PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 973 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CCAATACCTAAGTCTTCGTTA 0.443000 DLGAP2 9228 broad.mit.edu 37 8 1513926 1513926 + Silent SNP G G C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr8:1513926G>C uc003wpl.2 + 3 1165 c.1068G>C c.(1066-1068)GGG>GGC p.G356G DLGAP2_uc003wpm.2_Silent_p.G356G NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 435 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGAGAAGTGGGAGTTACATTA 0.557000 BMP1 649 broad.mit.edu 37 8 22037329 22037329 + Silent SNP T T C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chr8:22037329T>C uc003xbg.2 + 7 1192 c.948T>C c.(946-948)CTT>CTC p.L316L BMP1_uc003xba.2_Silent_p.L316L|BMP1_uc003xbb.2_Silent_p.L316L|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.L65L|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.L65L|BMP1_uc011kzc.1_Silent_p.L65L|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 316 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CCCGCAAGCTTTACAAGTGCC 0.612000 P2RY8 286530 broad.mit.edu 37 X 1584583 1584583 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:1584583G>A uc004cpz.2 - 2 1117 c.869C>T c.(868-870)CCG>CTG p.P290L NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 290 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATAAACAAACGGGTCCAGACA 0.602000 T CRLF2 B-ALL|Downs associated ALL MSL3 10943 broad.mit.edu 37 X 11793170 11793170 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:11793170G>A uc004cuw.2 + 13 1643 c.1538G>A c.(1537-1539)AGC>AAC p.S513N MSL3_uc004cux.2_Missense_Mutation_p.S454N|MSL3_uc011mig.1_Missense_Mutation_p.S364N|MSL3_uc011mih.1_Missense_Mutation_p.S501N|MSL3_uc004cuy.2_Missense_Mutation_p.S347N NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 513 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCACATTACAGCACCAAGAAC 0.453000 CDKL5 6792 broad.mit.edu 37 X 18643268 18643268 + Silent SNP T T C TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:18643268T>C uc004cym.2 + 17 2650 c.2397T>C c.(2395-2397)CCT>CCC p.P799P CDKL5_uc004cyn.2_Silent_p.P799P NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 799 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) CCGACAGCCCTGATCTTCTGA 0.478000 KLHL34 257240 broad.mit.edu 37 X 21674200 21674200 + Silent SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:21674200G>A uc004czz.1 - 1 2249 c.1707C>T c.(1705-1707)GTC>GTT p.V569V NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 569 Kelch 5. ovary(1) 1 CTGTCTCCTCGACCACGGCCA 0.682000 MAGEB3 4114 broad.mit.edu 37 X 30254217 30254217 + Missense_Mutation SNP G G A TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:30254217G>A uc004dca.1 + 5 913 c.176G>A c.(175-177)CGT>CAT p.R59H NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 59 0 GGTAGGTCACGTAGTGCTCTC 0.428000 FAM120C 54954 broad.mit.edu 37 X 54161998 54161998 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:54161998C>T uc004dsz.3 - 6 1381 c.1298G>A c.(1297-1299)CGA>CAA p.R433Q FAM120C_uc011moh.1_Missense_Mutation_p.R433Q NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 433 ovary(1)|central_nervous_system(1) 2 CACTTGATTTCGTGGAAGGGG 0.393000 MAGEE1 57692 broad.mit.edu 37 X 75650723 75650723 + Silent SNP A A G TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:75650723A>G uc004ecm.1 + 1 2607 c.2400A>G c.(2398-2400)ACA>ACG p.T800T NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 800 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 TCTATGGGACAGAACTAGTGG 0.498000 ZCCHC5 203430 broad.mit.edu 37 X 77912593 77912593 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:77912593C>T uc004edc.1 - 2 1621 c.1325G>A c.(1324-1326)GGC>GAC p.G442D NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 442 nucleic acid binding|zinc ion binding ovary(1) 1 GCATAAGCGGCCTTTGTGCCA 0.557000 COL4A6 1288 broad.mit.edu 37 X 107431078 107431078 + Silent SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:107431078C>T uc004enw.3 - 22 1873 c.1770G>A c.(1768-1770)CCG>CCA p.P590P COL4A6_uc004env.3_Silent_p.P589P|COL4A6_uc011msn.1_Silent_p.P589P|COL4A6_uc010npk.2_Silent_p.P589P NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 590 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 ATCAACTTACCGGAAGGCCTG 0.537000 Alport_syndrome_with_Diffuse_Leiomyomatosis IL13RA1 3597 broad.mit.edu 37 X 117895118 117895118 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:117895118C>T uc004eqs.2 + 6 737 c.694C>T c.(694-696)CAT>TAT p.H232Y IL13RA1_uc004eqr.1_Missense_Mutation_p.H232Y|IL13RA1_uc004eqt.1_Missense_Mutation_p.H232Y NM_001560 NP_001551 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 precursor 232 Extracellular (Potential). interleukin-13 receptor complex cytokine receptor activity 0 TGATCCTCCACATATTAAAAA 0.308000 SAGE1 55511 broad.mit.edu 37 X 134989523 134989523 + Missense_Mutation SNP C C T TCGA-D7-6522-01A-11D-1800-08 TCGA-D7-6522-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4724ddc-1714-41ed-8d34-d1e7210f4776 94057bd1-d097-442e-ac82-0d54e3f678eb g.chrX:134989523C>T uc004ezh.2 + 9 1096 c.929C>T c.(928-930)CCG>CTG p.P310L SAGE1_uc010nry.1_Missense_Mutation_p.P279L|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 310 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AATGACCAACCGCAACCTAAT 0.413000