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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CHD5 26038 broad.mit.edu 37 1 6188908 6188908 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:6188908G>A uc001amb.1 - 23 3709 c.3609C>T c.(3607-3609)GAC>GAT p.D1203D CHD5_uc001alz.1_Silent_p.D60D|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1203 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCTCCACGTCGTCCTTGAAGA 0.672 NA 16 28 0 0 0.006122 0 0 BAI2 576 broad.mit.edu 37 1 32198202 32198202 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:32198202C>T uc001btn.2 - 27 3990 c.3636G>A c.(3634-3636)GTG>GTA p.V1212V BAI2_uc001btm.2_Silent_p.V206V|BAI2_uc001btp.1_Silent_p.V206V|BAI2_uc010ogn.1_Silent_p.V182V|BAI2_uc010ogo.1_Silent_p.V821V|BAI2_uc010ogp.1_Silent_p.V1145V|BAI2_uc010ogq.1_Silent_p.V1179V|BAI2_uc001bto.2_Silent_p.V1212V NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1212 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGCACTTCACCACATCCTGGA 0.652 NA 5 29 0 0 0.000602 0 0 RNF19B 127544 broad.mit.edu 37 1 33402700 33402700 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:33402700G>T uc010oho.1 - 9 1906 c.1906C>A c.(1906-1908)CCC>ACC p.P636T RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Missense_Mutation_p.P635T NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B isoform a 636 integral to membrane ligase activity|protein binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGTCTGCAGGGGGGATCCTCT 0.567 NA 17 145 4.35082e-09 5.57517e-09 0.010504 1 0 RAB3B 5865 broad.mit.edu 37 1 52442781 52442781 + Silent SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:52442781T>C uc001cth.2 - 2 134 c.9A>G c.(7-9)TCA>TCG p.S3S NM_002867 NP_002858 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 3 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1) 1 CATCTGTCACTGAAGCCATCT 0.468 NA 22 58 0 0 0.012319 0 0 WLS 79971 broad.mit.edu 37 1 68620819 68620819 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:68620819T>C uc001def.1 - 4 900 c.629A>G c.(628-630)AAT>AGT p.N210S uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.N208S|WLS_uc001deg.1_Missense_Mutation_p.N119S|WLS_uc009wbf.1_Missense_Mutation_p.N165S NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 210 Lumenal (Potential).|Interacts with Wnt proteins (By similarity). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 AATTCCCACATTGATTTTCTT 0.398 NA 81 182 0 0 0.01441 0 0 SLC44A5 204962 broad.mit.edu 37 1 75805301 75805301 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:75805301A>T uc001dgu.2 - 4 211 c.67T>A c.(67-69)TAT>AAT p.Y23N SLC44A5_uc001dgt.2_Missense_Mutation_p.Y23N|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc010oqz.1_Missense_Mutation_p.Y62N|SLC44A5_uc010ora.1_Missense_Mutation_p.Y17N|SLC44A5_uc010orb.1_5'UTR NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 23 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TCTGGGTCATATGTCCTTGGA 0.343 NA 165 306 0 0 0.01441 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77093235 77093235 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:77093235C>T uc001dhh.2 + 4 885 c.722C>T c.(721-723)ACC>ATC p.T241I ST6GALNAC3_uc010orh.1_Intron NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 241 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 ATAAATGACACCTACTGCAAG 0.403 NA 29 117 0 0 0.010818 0 0 GBP5 115362 broad.mit.edu 37 1 89732742 89732742 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:89732742C>A uc001dnc.2 - 6 1060 c.523G>T c.(523-525)GAC>TAC p.D175Y GBP5_uc001dnd.2_Missense_Mutation_p.D175Y|GBP5_uc001dne.1_Missense_Mutation_p.D175Y NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 175 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) CACACTAAGTCTGGGAAGAAG 0.488 NA 44 140 1.7489e-18 2.62336e-18 0.011902 1 0 S100A13 6284 broad.mit.edu 37 1 153591462 153591462 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:153591462G>C uc001fcf.3 - 3 365 c.206C>G c.(205-207)TCG>TGG p.S69W S100A14_uc001fce.2_5'Flank|S100A13_uc001fcg.2_Missense_Mutation_p.S69W|S100A13_uc009woh.2_Missense_Mutation_p.S69W|S100A13_uc001fch.2_Missense_Mutation_p.S69W|S100A13_uc001fci.2_Missense_Mutation_p.S69W|S100A13_uc001fcj.2_Missense_Mutation_p.S69W NM_001024213 NP_001019384 Q99584 S10AD_HUMAN S100 calcium binding protein A13 69 2. interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) CTTGAGCTCCGAGTCCTGATT 0.483 NSCLC(156;1296 1989 17590 30930 49554) NA 15 407 0 0 0.007413 0 0 GATAD2B 57459 broad.mit.edu 37 1 153790562 153790562 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:153790562C>A uc001fdb.3 - 5 927 c.683G>T c.(682-684)CGG>CTG p.R228L NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 228 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCCCCAGGCCGAGAGGGAAG 0.517 NA 42 170 3.61848e-18 5.39598e-18 0.007835 1 0 NUP210L 91181 broad.mit.edu 37 1 153998192 153998192 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:153998192C>A uc001fdw.2 - 30 4020 c.3948G>T c.(3946-3948)AGG>AGT p.R1316S NUP210L_uc009woq.2_Missense_Mutation_p.R225S|NUP210L_uc010peh.1_Missense_Mutation_p.R1316S NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1316 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAGCTCCTTCCCTAGGGAACA 0.473 NA 14 280 0.00316338 0.00344727 0.003163 1 0 SPTA1 6708 broad.mit.edu 37 1 158656297 158656297 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:158656297A>G uc001fst.1 - 1 210 c.11T>C c.(10-12)TTT>TCT p.F4S NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 4 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) TTCCTTTGGAAATTGCTCCAT 0.333 NA 4 98 0 0 0.009096 0 0 RASAL2 9462 broad.mit.edu 37 1 178421741 178421741 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:178421741C>G uc001glr.2 + 9 1644 c.1519C>G c.(1519-1521)CTA>GTA p.L507V RASAL2_uc001glq.2_Missense_Mutation_p.L655V|RASAL2_uc009wxc.2_Missense_Mutation_p.L21V NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 507 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 ATCTCGGACTCTAACTCTTAT 0.423 NA 7 178 0 0 0.004482 0 0 CACNA1E 777 broad.mit.edu 37 1 181726250 181726250 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:181726250G>T uc001gow.2 + 30 4482 c.4317G>T c.(4315-4317)CTG>CTT p.L1439L CACNA1E_uc009wxs.2_Silent_p.L1327L|CACNA1E_uc001gox.1_Silent_p.L665L|CACNA1E_uc009wxt.2_Silent_p.L665L NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1439 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AGTGCAGCCTGGAGAAGAATG 0.468 NA 6 43 0.00116845 0.00128428 0.001168 1 0 CNTN2 6900 broad.mit.edu 37 1 205035635 205035635 + Nonsense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:205035635G>A uc001hbr.2 + 15 2152 c.1883G>A c.(1882-1884)TGG>TAG p.W628* CNTN2_uc001hbq.1_Nonsense_Mutation_p.W519*|CNTN2_uc001hbs.2_Nonsense_Mutation_p.W416* NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 628 Fibronectin type-III 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGCTCAGCTGGAGCCGTGGC 0.607 Melanoma(183;2548 2817 37099 41192) NA 19 30 0 0 0.008871 0 0 ELK4 2005 broad.mit.edu 37 1 205588203 205588203 + Splice_Site SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:205588203T>A uc001hcy.1 - 4 2331 c.1081_splice c.e4-1 p.T361_splice NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GATGGGTGTCTGCAATACACA 0.453 NA T SLC45A3 prostate 36 43 0 0 0.004289 0 0 CR1 1378 broad.mit.edu 37 1 207741262 207741262 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:207741262C>A uc001hfy.2 + 17 2836 c.2696C>A c.(2695-2697)ACA>AAA p.T899K CR1_uc009xcl.1_Missense_Mutation_p.T449K|CR1_uc001hfx.2_Missense_Mutation_p.T1349K|CR1_uc009xck.1_Missense_Mutation_p.T449K NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 899 Extracellular (Potential).|Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 GTAAATTACACATGCGACCCC 0.498 NA 73 159 2.40041e-21 3.75525e-21 0.01441 1 0 KCNH1 3756 broad.mit.edu 37 1 211192451 211192451 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:211192451G>T uc001hib.2 - 6 876 c.706C>A c.(706-708)CCT>ACT p.P236T KCNH1_uc001hic.2_Missense_Mutation_p.P236T NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 236 Helical; Name=Segment S1; (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ACATTATAAGGGACCAAGATG 0.418 NA 44 58 2.47872e-24 3.92593e-24 0.010771 1 0 USH2A 7399 broad.mit.edu 37 1 216108066 216108066 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:216108066G>A uc001hku.1 - 38 7579 c.7192C>T c.(7192-7194)CTC>TTC p.L2398F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2398 Extracellular (Potential).|Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCATCGATGAGCACCCAAAGG 0.358 NA HNSCC(13;0.011) 73 92 0 0 0.01441 0 0 HLX 3142 broad.mit.edu 37 1 221053723 221053723 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:221053723A>G uc001hmv.3 + 1 981 c.524A>G c.(523-525)AAA>AGA p.K175R NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 175 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) AAAGACCTCAAATTTGGAATT 0.622 NA 12 51 0 0 0.010729 0 0 OR2M3 127062 broad.mit.edu 37 1 248366562 248366562 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:248366562C>A uc010pzg.1 + 1 193 c.193C>A c.(193-195)CAA>AAA p.Q65K NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0245) CCTCCTCAGCCAACTGTCCCT 0.547 NA 75 331 9.35569e-46 1.55928e-45 0.01441 1 0 OR2T10 127069 broad.mit.edu 37 1 248756148 248756148 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:248756148G>T uc010pzn.1 - 1 922 c.922C>A c.(922-924)CAG>AAG p.Q308K NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGAGGTTTCTGCACGCTCAGC 0.383 NA 42 19 3.54909e-21 5.45191e-21 0.011902 1 0 TUBB8 347688 broad.mit.edu 37 10 93905 93905 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:93905T>C uc001ifi.2 - 4 427 c.427A>G c.(427-429)ACT>GCT p.T143A TUBB8_uc009xhe.2_Missense_Mutation_p.T106A|TUBB8_uc010pzs.1_Missense_Mutation_p.T71A NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 143 GTP (Potential). microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CCAGACCCAGTCCCCCCACCC 0.587 Pancreas(192;2041 3010 9013 18103) NA 3 60 0 0 0.004672 0 0 SFMBT2 57713 broad.mit.edu 37 10 7423846 7423846 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:7423846C>A uc009xio.1 - 2 106 c.15G>T c.(13-15)TTG>TTT p.L5F SFMBT2_uc001ijn.1_Missense_Mutation_p.L5F|SFMBT2_uc010qay.1_Missense_Mutation_p.L5F|SFMBT2_uc001ijo.1_Missense_Mutation_p.L5F NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 5 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TGGAAGCTGACAAAGTGCTCT 0.398 NA 12 45 0.000151284 0.000170697 0.001855 1 0 ITGA8 8516 broad.mit.edu 37 10 15646211 15646211 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:15646211T>C uc001ioc.1 - 20 2114 c.2114A>G c.(2113-2115)AAC>AGC p.N705S ITGA8_uc010qcb.1_Missense_Mutation_p.N690S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 705 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CATTACCTTGTTGTTGCGTTC 0.378 NA 24 111 0 0 0.00333 0 0 C10orf68 79741 broad.mit.edu 37 10 33137562 33137562 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:33137562C>T uc001iwn.3 + 19 2013 c.1540C>T c.(1540-1542)CGT>TGT p.R514C C10orf68_uc001iwl.1_Missense_Mutation_p.R473C|C10orf68_uc001iwm.1_Missense_Mutation_p.R518C|C10orf68_uc010qei.1_Missense_Mutation_p.R490C|C10orf68_uc001iwo.3_RNA NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 514 skin(2)|ovary(1) 3 GTCCGTACAACGTCAAGAAGG 0.294 NA 10 80 0 0 0.010729 0 0 MSMB 4477 broad.mit.edu 37 10 51562320 51562320 + Nonsense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:51562320A>T uc001jiq.2 + 4 297 c.265A>T c.(265-267)AAG>TAG p.K89* PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|MSMB_uc001jir.2_Silent_p.S53S|NCOA4_uc009xon.2_5'Flank|NCOA4_uc010qhd.1_5'Flank|NCOA4_uc001jis.3_5'Flank|NCOA4_uc010qhe.1_5'Flank|NCOA4_uc010qhf.1_5'Flank NM_002443 NP_002434 P08118 MSMB_HUMAN beta-microseminoprotein isoform a precursor 89 extracellular space|nucleus ovary(2) 2 AAGAATCTTCAAGAAGGAGGA 0.448 NA Hereditary_Prostate_Cancer 25 148 0 0 0.00333 0 0 KIF20B 9585 broad.mit.edu 37 10 91469165 91469165 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:91469165C>T uc001kgs.1 + 4 370 c.298C>T c.(298-300)CGG>TGG p.R100W KIF20B_uc001kgr.1_Missense_Mutation_p.R100W NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 100 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 CATCCTTGGTCGGTTAAGTGA 0.368 NA 16 147 0 0 0.004007 0 0 CPN1 1369 broad.mit.edu 37 10 101814132 101814132 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:101814132G>T uc001kql.2 - 7 1343 c.1083C>A c.(1081-1083)GTC>GTA p.V361V NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 361 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TAATCCCACTGACAGAAATGA 0.448 NA 15 73 1.15088e-07 1.41093e-07 0.004007 1 0 CCDC147 159686 broad.mit.edu 37 10 106125670 106125670 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:106125670G>T uc001kyh.2 + 5 830 c.696G>T c.(694-696)ATG>ATT p.M232I NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 232 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGGCAGACATGGACAGCAGGC 0.502 NA 7 28 8.12818e-05 9.21194e-05 0.001984 1 0 PNLIPRP2 5408 broad.mit.edu 37 10 118383478 118383478 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr10:118383478A>T uc001lcq.2 + 5 98 c.75A>T c.(73-75)CAA>CAT p.Q25H PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 24 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) GCTACGGACAACTTGGCTGCT 0.488 NA 13 41 0 0 0.004007 0 0 OR51A7 119687 broad.mit.edu 37 11 4929304 4929304 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:4929304G>T uc010qyq.1 + 1 705 c.705G>T c.(703-705)AAG>AAT p.K235N NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAGGCTTAAGGCCCTAAATA 0.478 NA 35 124 9.78485e-24 1.54021e-23 0.013726 1 0 OR52H1 390067 broad.mit.edu 37 11 5565818 5565818 + Silent SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:5565818T>A uc010qzh.1 - 1 936 c.936A>T c.(934-936)ATA>ATT p.I312I HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAACAAAAGTATAACCTTAT 0.358 NA 16 50 0 0 0.00499 0 0 NELL1 4745 broad.mit.edu 37 11 21594952 21594952 + Nonsense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:21594952C>A uc001mqe.2 + 19 2532 c.2379C>A c.(2377-2379)TGC>TGA p.C793* NELL1_uc001mqf.2_Nonsense_Mutation_p.C746*|NELL1_uc009yid.2_Nonsense_Mutation_p.C821*|NELL1_uc010rdo.1_Nonsense_Mutation_p.C736*|NELL1_uc010rdp.1_Nonsense_Mutation_p.C506*|NELL1_uc001mqh.2_Nonsense_Mutation_p.C338* NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 793 VWFC 5. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CCTGTAAATGCAAGGTAATTG 0.468 NA 21 78 2.98393e-07 3.60617e-07 0.00278 1 0 MUC15 143662 broad.mit.edu 37 11 26582625 26582625 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:26582625C>T uc001mqx.2 - 4 1258 c.992G>A c.(991-993)CGT>CAT p.R331H ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.R358H|MUC15_uc001mqy.2_Missense_Mutation_p.R308H NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 331 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TACAGAAGTACGAAGTGGAGG 0.378 NA 8 106 0 0 0.00308 0 0 OR5D13 390142 broad.mit.edu 37 11 55541680 55541680 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:55541680C>A uc010ril.1 + 1 767 c.767C>A c.(766-768)ACT>AAT p.T256N NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TTCCATGGAACTATCCTTTTC 0.448 NA 17 77 0.000566183 0.000630466 0.00499 1 0 OR5T3 390154 broad.mit.edu 37 11 56020310 56020310 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:56020310C>A uc010rjd.1 + 1 635 c.635C>A c.(634-636)CCT>CAT p.P212H NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 212 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TGTGATATGCCTCCTCTCCTT 0.408 NA 91 187 3.60193e-44 5.88776e-44 0.01441 1 0 OR8K3 219473 broad.mit.edu 37 11 56086612 56086612 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:56086612A>T uc010rjf.1 + 1 830 c.830A>T c.(829-831)TAC>TTC p.Y277F NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) TCCATATTTTACACCCTGGTT 0.393 NA 25 53 0 0 0.004656 0 0 OR5M8 219484 broad.mit.edu 37 11 56258623 56258623 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:56258623T>C uc001nix.1 - 1 224 c.224A>G c.(223-225)AAT>AGT p.N75S NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 75 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TGGAGTCACATTGGAAGAGAA 0.473 NA 32 59 0 0 0.009535 0 0 OR5A1 219982 broad.mit.edu 37 11 59211538 59211538 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:59211538G>T uc001nnx.1 + 1 897 c.897G>T c.(895-897)GAG>GAT p.E299D NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 GGAACAAAGAGATCAAGGATG 0.433 NA 61 124 1.79293e-35 2.91209e-35 0.01441 1 0 KCTD14 65987 broad.mit.edu 37 11 77728273 77728273 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:77728273G>C uc001oyw.3 - 2 159 c.134C>G c.(133-135)ACC>AGC p.T45S NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 45 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) CAGGGTGGTGGTGTGGAACTC 0.582 NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748) NA 20 34 0 0 0.010504 0 0 GRM5 2915 broad.mit.edu 37 11 88780748 88780748 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:88780748G>T uc001pcq.2 - 1 493 c.293C>A c.(292-294)TCC>TAC p.S98Y GRM5_uc009yvm.2_Missense_Mutation_p.S98Y|GRM5_uc009yvn.1_Missense_Mutation_p.S98Y NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 98 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ATGCCAGCAGGAGTCCCTTAT 0.517 NA 18 20 1.33834e-09 1.73236e-09 0.007413 1 0 AMOTL1 154810 broad.mit.edu 37 11 94532826 94532826 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:94532826G>A uc001pfb.2 + 3 640 c.470G>A c.(469-471)CGC>CAC p.R157H AMOTL1_uc001pfc.2_Missense_Mutation_p.R107H NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 157 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CAGTCAGCACGCCAAGAACCG 0.547 NA 5 18 0 0 0.000602 0 0 LAYN 143903 broad.mit.edu 37 11 111425981 111425981 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:111425981A>C uc001plr.1 + 6 984 c.648A>C c.(646-648)GAA>GAC p.E216D LAYN_uc001plp.1_Missense_Mutation_p.E208D|LAYN_uc001plq.1_Missense_Mutation_p.E216D|LAYN_uc001pls.1_Missense_Mutation_p.E208D|LAYN_uc010rwg.1_Missense_Mutation_p.E63D|LAYN_uc010rwh.1_Missense_Mutation_p.E64D NM_178834 NP_849156 Q6UX15 LAYN_HUMAN layilin 216 Extracellular (Potential). cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding 0 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) AAACACAGGAAGAAGATGCCA 0.403 Ovarian(17;551 586 12136 22082 22900) NA 6 58 0 0 0.00308 0 0 HYOU1 10525 broad.mit.edu 37 11 118922237 118922237 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:118922237T>C uc001puu.2 - 13 1632 c.1439A>G c.(1438-1440)AAA>AGA p.K480R HYOU1_uc001put.2_Missense_Mutation_p.K445R|HYOU1_uc010ryu.1_Missense_Mutation_p.K500R|HYOU1_uc010ryv.1_Missense_Mutation_p.K369R|HYOU1_uc001pux.3_Missense_Mutation_p.K480R|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.K480R NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 480 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GGTGATGACTTTGCGTTGAGG 0.562 NA 21 49 0 0 0.010504 0 0 GRIK4 2900 broad.mit.edu 37 11 120690598 120690598 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr11:120690598C>T uc001pxn.2 + 6 767 c.480C>T c.(478-480)ACC>ACT p.T160T GRIK4_uc009zav.1_Silent_p.T160T|GRIK4_uc009zaw.1_Silent_p.T160T|GRIK4_uc009zax.1_Silent_p.T160T NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 160 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TCAACTGCACCACCGCCTGCC 0.537 NA 8 198 0 0 0.008291 0 0 SLC6A13 6540 broad.mit.edu 37 12 330154 330154 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:330154G>T uc001qic.1 - 15 1822 c.1769C>A c.(1768-1770)ACC>AAC p.T590N SLC6A13_uc009zdj.1_Missense_Mutation_p.T580N|SLC6A13_uc010sdl.1_Missense_Mutation_p.T498N NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 590 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GAGCAGTGAGGTCCTGGGGGT 0.657 NA 6 26 0.00116845 0.00128428 0.001168 1 0 C12orf5 57103 broad.mit.edu 37 12 4459026 4459026 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:4459026T>G uc001qmp.2 + 4 313 c.234T>G c.(232-234)GAT>GAG p.D78E NM_020375 NP_065108 Q9NQ88 TIGAR_HUMAN TP53-induced glycolysis and apoptosis regulator 78 intracellular fructose-2,6-bisphosphate 2-phosphatase activity skin(1) 1 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) TTTGCAAAGATATGACGGTAA 0.353 Colon(1;100 192 35375 49454 52532) NA 12 89 0 0 0.00245 0 0 C12orf5 57103 broad.mit.edu 37 12 4459029 4459029 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:4459029G>T uc001qmp.2 + 4 316 c.237G>T c.(235-237)ATG>ATT p.M79I NM_020375 NP_065108 Q9NQ88 TIGAR_HUMAN TP53-induced glycolysis and apoptosis regulator 79 intracellular fructose-2,6-bisphosphate 2-phosphatase activity skin(1) 1 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) GCAAAGATATGACGGTAAAGT 0.348 Colon(1;100 192 35375 49454 52532) NA 11 87 4.36969e-10 5.77343e-10 0.001855 1 0 ALG10B 144245 broad.mit.edu 37 12 38714267 38714267 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:38714267G>T uc001rln.3 + 3 813 c.674G>T c.(673-675)GGA>GTA p.G225V ALG10B_uc001rlo.3_Missense_Mutation_p.G195V|ALG10B_uc010skk.1_Missense_Mutation_p.G165V NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 225 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CCTATTAAAGGACCATTTGCA 0.393 NA 21 111 3.65163e-15 5.29071e-15 0.00632 1 0 ARID2 196528 broad.mit.edu 37 12 46243560 46243560 + Splice_Site SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:46243560G>T uc001ros.1 + 14 1912 c.1912_splice c.e14+1 p.G638_splice ARID2_uc001ror.2_Splice_Site_p.G638_splice|ARID2_uc009zkg.1_Splice_Site_p.G94_splice|ARID2_uc009zkh.1_Splice_Site_p.G265_splice|ARID2_uc001rou.1_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCACCTGCAGGTGTTAATTTT 0.313 NA 14 128 9.31168e-06 1.08424e-05 0.001855 1 0 KRT75 9119 broad.mit.edu 37 12 52825359 52825359 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:52825359C>T uc001saj.2 - 4 860 c.838G>A c.(838-840)GAG>AAG p.E280K NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 280 Coil 1B.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) AAGTTGATCTCCTCGGGCAGA 0.483 NA 4 55 0 0 0.001168 0 0 KRT1 3848 broad.mit.edu 37 12 53072009 53072009 + Splice_Site SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:53072009T>C uc001sau.1 - 3 866 c.807_splice c.e3-1 p.K269_splice KRT1_uc001sav.1_Splice_Site_p.K269_splice NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 TCCTCATACCTGCAGGAAAGC 0.403 NA 9 25 0 0 0.006214 0 0 LRIG3 121227 broad.mit.edu 37 12 59272706 59272706 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:59272706G>T uc001sqr.2 - 14 2229 c.1983C>A c.(1981-1983)TTC>TTA p.F661L LRIG3_uc009zqh.2_Missense_Mutation_p.F601L|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 661 Ig-like C2-type 2. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) CCACGATAAAGAACACGTCAT 0.542 NA 9 79 0.00448238 0.00482282 0.004482 1 0 NAV3 89795 broad.mit.edu 37 12 78582552 78582552 + Missense_Mutation SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:78582552T>A uc001syp.2 + 33 6223 c.6050T>A c.(6049-6051)CTC>CAC p.L2017H NAV3_uc001syo.2_Missense_Mutation_p.L1995H|NAV3_uc010sub.1_Missense_Mutation_p.L1474H|NAV3_uc009zsf.2_Missense_Mutation_p.L826H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2017 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACTGTGAACCTCAAAGGTAAA 0.378 NA HNSCC(70;0.22) 16 44 0 0 0.003163 0 0 LUM 4060 broad.mit.edu 37 12 91502379 91502379 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:91502379G>C uc001tbm.2 - 2 767 c.378C>G c.(376-378)AAC>AAG p.N126K LUM_uc001tbn.2_Intron NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 126 LRR 3. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 CTGTCAGGTTGTTGTGGTTTA 0.418 NA 20 74 0 0 0.010504 0 0 TBX5 6910 broad.mit.edu 37 12 114837318 114837318 + Nonsense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr12:114837318C>T uc001tvo.2 - 4 857 c.362G>A c.(361-363)TGG>TAG p.W121* TBX5_uc001tvp.2_Nonsense_Mutation_p.W121*|TBX5_uc001tvq.2_Nonsense_Mutation_p.W71*|TBX5_uc010syv.1_Nonsense_Mutation_p.W121* NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 121 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CAGTGCCTACCATTTATTATC 0.418 NSCLC(152;1358 1980 4050 23898 40356) NA 21 123 0 0 0.00333 0 0 HSPH1 10808 broad.mit.edu 37 13 31719733 31719733 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:31719733C>A uc001utj.2 - 11 1949 c.1551G>T c.(1549-1551)CTG>CTT p.L517L HSPH1_uc001utk.2_Silent_p.L517L|HSPH1_uc010aaw.2_Silent_p.L476L|HSPH1_uc001utl.2_Silent_p.L519L|HSPH1_uc010tds.1_Silent_p.L441L NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 517 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GTCTCTGATTCAGACACTCCA 0.423 NA 6 42 0.00116845 0.00128428 0.001168 1 0 KL 9365 broad.mit.edu 37 13 33634951 33634951 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:33634951C>A uc001uus.2 + 4 1743 c.1735C>A c.(1735-1737)CAG>AAG p.Q579K KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 579 Glycosyl hydrolase-1 2.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGCTGCCATCCAGCCCCAGAT 0.498 NA 34 57 1.30998e-17 1.94213e-17 0.005524 1 0 TRPC4 7223 broad.mit.edu 37 13 38237641 38237641 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:38237641G>T uc001uws.2 - 6 1835 c.1600C>A c.(1600-1602)CTA>ATA p.L534I TRPC4_uc010abv.2_Missense_Mutation_p.L114I|TRPC4_uc001uwt.2_Missense_Mutation_p.L534I|TRPC4_uc010tey.1_Missense_Mutation_p.L534I|TRPC4_uc010abw.2_Missense_Mutation_p.L361I|TRPC4_uc010abx.2_Missense_Mutation_p.L534I|TRPC4_uc010aby.2_Missense_Mutation_p.L534I NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 534 Extracellular (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AATTGATTTAGGCCATTTGCA 0.373 NA 4 73 0.00024832 0.00027895 0.009096 1 0 STOML3 161003 broad.mit.edu 37 13 39546705 39546705 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:39546705C>A uc001uwx.2 - 4 394 c.256G>T c.(256-258)GAT>TAT p.D86Y STOML3_uc010tez.1_Missense_Mutation_p.D77Y NM_145286 NP_660329 Q8TAV4 STML3_HUMAN stomatin-like 3 isoform 1 86 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) ACAAACACATCTATGCATGGC 0.373 NA 32 82 2.20474e-14 3.15847e-14 0.003755 1 0 PCDH9 5101 broad.mit.edu 37 13 67801795 67801796 + Missense_Mutation DNP GC GC TG TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:67801795_67801796GC>TG uc001vik.2 - 2 1469_1470 c.777_778GC>CA c.(775-780)GTGCAT>GTCAAT p.H260N PCDH9_uc001vil.2_Missense_Mutation_p.H260N|PCDH9_uc010thl.1_Missense_Mutation_p.H260N|PCDH9_uc001vin.3_Missense_Mutation_p.H260N NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 260 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TCTGGAATATGCACCTCCACTT 0.47 NA 5 62 0 0 0.004672 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369625 86369626 + Missense_Mutation DNP GG GG TT TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr13:86369625_86369626GG>TT uc001vll.1 - 2 1477_1478 c.1018_1019CC>AA c.(1018-1020)CCA>AAA p.P340K SLITRK6_uc010afe.1_Missense_Mutation_p.P105K NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 340 Extracellular (Potential).|LRRNT 2. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AAGTCCTGATGGGGATAGGACT 0.446 NA 35 75 0 0 0.004672 0 0 OR11H12 440153 broad.mit.edu 37 14 19377684 19377684 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:19377684G>T uc010tkp.1 + 1 91 c.91G>T c.(91-93)GGT>TGT p.G31C NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 31 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATACTCCAAGGTTTCACTTG 0.413 NA 21 148 7.45023e-12 1.03815e-11 0.010504 1 0 PRKD1 5587 broad.mit.edu 37 14 30100003 30100003 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:30100003G>A uc001wqh.2 - 10 1798 c.1617C>T c.(1615-1617)GCC>GCT p.A539A NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 539 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CGGGCATAAGGGCATGCTGGA 0.537 NA 7 109 0 0 0.001984 0 0 STRN3 29966 broad.mit.edu 37 14 31374737 31374737 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:31374737A>C uc001wqu.2 - 15 2132 c.1916T>G c.(1915-1917)TTT>TGT p.F639C STRN3_uc001wqv.2_Missense_Mutation_p.F555C|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 639 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) ACAGCCTATAAAGTCAACTGA 0.348 NA 5 165 0 0 0.001168 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412058 105412058 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:105412058G>T uc010axc.1 - 7 9850 c.9730C>A c.(9730-9732)CCC>ACC p.P3244T AHNAK2_uc001ypx.2_Missense_Mutation_p.P3144T NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3244 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTATCTGGGGGCCCTTGCGA 0.612 NA 21 61 1.04352e-10 1.40792e-10 0.003755 1 0 DUOX1 53905 broad.mit.edu 37 15 45444641 45444641 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:45444641C>T uc001zus.1 + 26 3697 c.3351C>T c.(3349-3351)CTC>CTT p.L1117L DUOX1_uc001zut.1_Silent_p.L1117L|DUOX1_uc010bee.1_Silent_p.L497L|DUOX1_uc001zuu.2_Silent_p.L259L NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1117 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity p.L1117L(1) ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) AAACCTTCCTCAACCGCTACG 0.612 NA 4 33 0 0 0.001168 0 0 GATM 2628 broad.mit.edu 37 15 45661562 45661562 + Missense_Mutation SNP C C A rs80338737 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:45661562C>A uc001zvc.2 - 3 775 c.446G>T c.(445-447)TGG>TTG p.W149L GATM_uc001zvb.2_Missense_Mutation_p.W20L|GATM_uc010uev.1_Missense_Mutation_p.W202L NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 149 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 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) CTTCAATGACCAGTCAATGGG 0.373 NA 24 96 7.41945e-09 9.4598e-09 0.005443 1 0 ATP8B4 79895 broad.mit.edu 37 15 50271825 50271825 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:50271825G>A uc001zxu.2 - 12 1165 c.1023C>T c.(1021-1023)TCC>TCT p.S341S ATP8B4_uc010ber.2_Silent_p.S214S|ATP8B4_uc010ufd.1_Silent_p.S214S|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 341 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCACATATAAGGAAATGGGTA 0.308 NA 10 139 0 0 0.010729 0 0 VPS13C 54832 broad.mit.edu 37 15 62226466 62226466 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:62226466A>C uc002agz.2 - 49 5894 c.5820T>G c.(5818-5820)TTT>TTG p.F1940L VPS13C_uc002aha.2_Missense_Mutation_p.F1897L|VPS13C_uc002ahb.1_Missense_Mutation_p.F1940L|VPS13C_uc002ahc.1_Missense_Mutation_p.F1897L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1940 protein localization ovary(2) 2 ATTCAAAGTGAAAGTCAAATT 0.318 NA 16 160 0 0 0.006122 0 0 LOC645752 645752 broad.mit.edu 37 15 78207569 78207569 + Missense_Mutation SNP G G A rs56314252 by1000genomes TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:78207569G>A uc010bky.2 - 18 2107 c.1343C>T c.(1342-1344)GCA>GTA p.A448V LOC645752_uc010umq.1_Missense_Mutation_p.A95V|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 GATCTGCTGTGCAGTGGGGTT 0.572 NA 4 56 0 0 0.001168 0 0 ALPK3 57538 broad.mit.edu 37 15 85411371 85411371 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr15:85411371C>T uc002ble.2 + 14 5575 c.5408C>T c.(5407-5409)CCT>CTT p.P1803L ALPK3_uc010upc.1_Missense_Mutation_p.P104L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1803 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCTGCTTCCCTGCCCTGCTG 0.647 NA 19 138 0 0 0.008871 0 0 TPSG1 25823 broad.mit.edu 37 16 1272752 1272752 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:1272752G>T uc002ckw.2 - 4 413 c.411C>A c.(409-411)CTC>CTA p.L137L NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN transmembrane tryptase preproprotein 137 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TCCGGCTGGAGAGGGTCACGG 0.682 NA 12 39 2.27111e-07 2.75778e-07 0.013537 1 0 TMEM204 79652 broad.mit.edu 37 16 1604799 1604799 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:1604799C>A uc002cmc.2 + 4 851 c.453C>A c.(451-453)ATC>ATA p.I151I IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Silent_p.I151I|TMEM204_uc010brr.1_Silent_p.I151I|uc010brs.1_5'Flank NM_024600 NP_078876 Q9BSN7 TM204_HUMAN transmembrane protein 204 151 Helical; (Potential). response to stress adherens junction|integral to membrane 0 Hepatocellular(780;0.219) TCCTGGTCATCGGGCTCGTGA 0.587 NA 35 67 3.09479e-21 4.78285e-21 0.006999 1 0 Unknown 0 broad.mit.edu 37 16 28354495 28354495 + Silent SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:28354495T>C uc010vcq.1 - 7 710 c.657A>G c.(655-657)GCA>GCG p.A219A uc010vcr.1_Silent_p.A237A SubName: Full=LOC728741 protein; NA GATGCTCCGCTGCCACCATTC 0.493 NA 5 73 0 0 0.000602 0 0 ITGAL 3683 broad.mit.edu 37 16 30522454 30522454 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:30522454A>T uc002dyi.3 + 24 2959 c.2783A>T c.(2782-2784)CAG>CTG p.Q928L ITGAL_uc002dyj.3_Missense_Mutation_p.Q844L|ITGAL_uc010vev.1_Missense_Mutation_p.Q162L NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 928 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) ATCCTCATCCAGGAGTAAGTT 0.577 NSCLC(110;1462 1641 3311 33990 49495) NA 16 54 0 0 0.004007 0 0 BCAR1 9564 broad.mit.edu 37 16 75276608 75276608 + Silent SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr16:75276608C>G uc002fdv.2 - 2 516 c.393G>C c.(391-393)CCG>CCC p.P131P BCAR1_uc010cgu.2_Silent_p.P102P|BCAR1_uc010vna.1_Silent_p.P129P|BCAR1_uc010vnb.1_Silent_p.P177P|BCAR1_uc002fdw.2_Silent_p.P131P|BCAR1_uc010vnc.1_Intron|BCAR1_uc010vnd.1_Silent_p.P149P|BCAR1_uc002fdx.2_Silent_p.P149P NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 131 Substrate for kinases (By similarity). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) GGCTGGGACCCGGGACTTGGT 0.632 NA 5 204 0 0 0.001984 0 0 NEURL4 84461 broad.mit.edu 37 17 7221815 7221815 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:7221815T>C uc002gga.1 - 23 3870 c.3863A>G c.(3862-3864)CAG>CGG p.Q1288R NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Missense_Mutation_p.Q1286R NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1288 NHR 6. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 GCCACTAACCTGCTCACACTG 0.627 NA 3 12 0 0 0.004672 0 0 MYH2 4620 broad.mit.edu 37 17 10429087 10429087 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:10429087C>G uc010coi.2 - 31 4422 c.4294G>C c.(4294-4296)GAG>CAG p.E1432Q uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1432Q|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1432 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 ATGAGGTCCTCGACCTCATTC 0.542 NA 43 56 0 0 0.011902 0 0 AATF 26574 broad.mit.edu 37 17 35388909 35388909 + Splice_Site SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:35388909A>G uc002hni.2 + 11 1799 c.1548_splice c.e11-2 p.R516_splice AATF_uc002hnj.2_Splice_Site NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) TGCTTTATTTAGGTTTCATGT 0.388 NSCLC(49;901 1159 19183 41572 46244) NA 4 123 0 0 0.000602 0 0 KRT222 125113 broad.mit.edu 37 17 38818199 38818199 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:38818199A>T uc002hvc.2 - 2 259 c.194T>A c.(193-195)CTG>CAG p.L65Q KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.L25Q|KRT222_uc010cxc.2_Missense_Mutation_p.L25Q NM_152349 NP_689562 Q8N1A0 KT222_HUMAN truncated type I keratin KA21 65 Potential. intermediate filament structural molecule activity central_nervous_system(1)|skin(1) 2 TTCCACTTGCAGGTGGTGCCA 0.458 NA 95 171 0 0 0.01441 0 0 DHX8 1659 broad.mit.edu 37 17 41594634 41594634 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:41594634A>G uc002idu.1 + 18 2816 c.2743A>G c.(2743-2745)ACC>GCC p.T915A DHX8_uc010wif.1_Missense_Mutation_p.T824A|DHX8_uc010wig.1_Missense_Mutation_p.T915A NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 915 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AATGCTGACCACCAACGTGCC 0.512 NSCLC(56;1548 1661 49258 49987) NA 3 32 0 0 0.004672 0 0 FZD2 2535 broad.mit.edu 37 17 42635330 42635330 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:42635330C>T uc002igx.1 + 1 406 c.274C>T c.(274-276)CTG>TTG p.L92L NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 92 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GCGCTTCTTCCTGTGCTCCAT 0.642 NA 5 78 0 0 0.001984 0 0 BZRAP1 9256 broad.mit.edu 37 17 56389902 56389902 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:56389902C>A uc002ivx.3 - 17 3151 c.2280G>T c.(2278-2280)GTG>GTT p.V760V BZRAP1_uc010dcs.2_Silent_p.V700V|BZRAP1_uc010wnt.1_Silent_p.V760V NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 760 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCTCCTTCCCACACTGCTTT 0.647 NA 21 54 5.35356e-11 7.33956e-11 0.00278 1 0 ARSG 22901 broad.mit.edu 37 17 66339822 66339822 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:66339822G>A uc002jhc.2 + 3 1092 c.296G>A c.(295-297)CGC>CAC p.R99H ARSG_uc002jhb.1_5'UTR NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 99 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CTTGGCCTTCGCAATGGAGTC 0.602 NA 5 49 0 0 0.001168 0 0 MRPS7 51081 broad.mit.edu 37 17 73261910 73261910 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:73261910C>T uc002jnm.3 + 5 868 c.635C>T c.(634-636)GCT>GTT p.A212V MRPS7_uc002jnn.3_Missense_Mutation_p.A241V NM_015971 NP_057055 Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 precursor 212 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CTGCTGGAGGCTTTCCATAAC 0.577 NA 17 56 0 0 0.010504 0 0 TMEM105 284186 broad.mit.edu 37 17 79287682 79287682 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:79287682C>A uc002kad.1 - 3 709 c.159G>T c.(157-159)AGG>AGT p.R53S NM_178520 NP_848615 Q8N8V8 TM105_HUMAN transmembrane protein 105 53 integral to membrane ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) GGGGAGACGTCCTCGGGCCCT 0.607 NA 35 66 2.87052e-16 4.2068e-16 0.005524 1 0 OSBPL1A 114876 broad.mit.edu 37 18 21898723 21898723 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr18:21898723C>G uc002kve.2 - 8 850 c.676G>C c.(676-678)GTT>CTT p.V226L OSBPL1A_uc002kvf.3_Missense_Mutation_p.V6L|MIR320C2_hsa-mir-320c-2|MI0008191_5'Flank NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 226 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTATTACCAACAAGAATGTGT 0.284 NA 16 39 0 0 0.004007 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024510 55024510 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr18:55024510G>C uc002lgn.2 + 3 1026 c.669G>C c.(667-669)TTG>TTC p.L223F NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 223 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) ACAATCTCTTGACTATTCAGG 0.423 NA 13 49 0 0 0.013537 0 0 ZNF516 9658 broad.mit.edu 37 18 74154250 74154250 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr18:74154250C>A uc010dqx.1 - 2 996 c.761G>T c.(760-762)GGC>GTC p.G254V ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 254 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GAAGGCCTGGCCACACACCTC 0.682 NA 9 10 1.12685e-05 1.30612e-05 0.004482 1 0 AP3D1 8943 broad.mit.edu 37 19 2114283 2114283 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2114283C>T uc002luz.2 - 22 2665 c.2442G>A c.(2440-2442)GAG>GAA p.E814E AP3D1_uc010dsv.2_5'Flank|AP3D1_uc002luy.2_Silent_p.E723E|AP3D1_uc002lva.2_Silent_p.E814E NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 814 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TAGGCAGTTTCTCGCTGTCGG 0.537 NA 12 41 0 0 0.00245 0 0 AP3D1 8943 broad.mit.edu 37 19 2115314 2115314 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2115314C>T uc002luz.2 - 20 2476 c.2253G>A c.(2251-2253)AAG>AAA p.K751K AP3D1_uc002luy.2_Silent_p.K660K|AP3D1_uc002lva.2_Silent_p.K751K NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 751 Potential. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTGCCcttcttctccttct 0.502 NA 13 47 0 0 0.013537 0 0 AP3D1 8943 broad.mit.edu 37 19 2115341 2115341 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2115341C>T uc002luz.2 - 20 2449 c.2226G>A c.(2224-2226)AGG>AGA p.R742R AP3D1_uc002luy.2_Silent_p.R651R|AP3D1_uc002lva.2_Silent_p.R742R NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 742 Potential. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) tctttttcctcctcttgtcct 0.542 NA 9 65 0 0 0.013537 0 0 AP3D1 8943 broad.mit.edu 37 19 2115379 2115379 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2115379C>T uc002luz.2 - 20 2411 c.2188G>A c.(2188-2190)GAG>AAG p.E730K AP3D1_uc002luy.2_Missense_Mutation_p.E639K|AP3D1_uc002lva.2_Missense_Mutation_p.E730K NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 730 Potential. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCGCCGCTCCTCCTCCAGC 0.557 NA 17 80 0 0 0.014323 0 0 AP3D1 8943 broad.mit.edu 37 19 2115386 2115386 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2115386C>T uc002luz.2 - 20 2404 c.2181G>A c.(2179-2181)CTG>CTA p.L727L AP3D1_uc002luy.2_Silent_p.L636L|AP3D1_uc002lva.2_Silent_p.L727L NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 727 Potential. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCTCCTCCAGCTTCACAT 0.557 NA 18 76 0 0 0.00278 0 0 AP3D1 8943 broad.mit.edu 37 19 2120872 2120872 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:2120872C>T uc002luz.2 - 14 1693 c.1470G>A c.(1468-1470)GGG>GGA p.G490G AP3D1_uc002luy.2_Silent_p.G399G|AP3D1_uc002lva.2_Silent_p.G490G NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 490 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGAGAACTCCCCGCAGATCC 0.637 NA 6 36 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9046894 9046894 + Silent SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:9046894A>G uc002mkp.2 - 5 34941 c.34737T>C c.(34735-34737)ACT>ACC p.T11579T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11581 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGCAGGATGAGTGAGCCACG 0.522 NA 3 34 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9063968 9063968 + Silent SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:9063968A>C uc002mkp.2 - 3 23682 c.23478T>G c.(23476-23478)GCT>GCG p.A7826A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7828 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCAGGGAGGAAGCTAGCTCTG 0.542 NA 10 69 0 0 0.006214 0 0 CDKN2D 1032 broad.mit.edu 37 19 10677830 10677830 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:10677830C>G uc002mpa.2 - 2 707 c.405G>C c.(403-405)AGG>AGC p.R135S KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Missense_Mutation_p.R135S NM_001800 NP_001791 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D 135 ANK 3. anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding 0 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CCCTGGCGTCCCTGCGATGGA 0.612 NA Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System 8 78 0 0 0.004482 0 0 FXYD7 53822 broad.mit.edu 37 19 35642229 35642229 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:35642229T>G uc002nye.1 + 3 218 c.134T>G c.(133-135)ATC>AGC p.I45S FXYD7_uc002nyf.1_Missense_Mutation_p.I45S NM_022006 NP_071289 P58549 FXYD7_HUMAN FXYD domain-containing ion transport regulator 45 Helical; (Potential). integral to membrane ion channel activity 0 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) CTCATCGTCATCAGTAAGTGC 0.542 NA 10 105 0 0 0.013537 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915029 39915029 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:39915029G>C uc010xuz.1 + 19 3581 c.3256G>C c.(3256-3258)GAT>CAT p.D1086H PLEKHG2_uc010xuy.1_Missense_Mutation_p.D1027H|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.D864H NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 1086 Pro-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AAGCAGCCTGGATCCCCAGGG 0.582 NA 19 45 0 0 0.006122 0 0 FCGBP 8857 broad.mit.edu 37 19 40434113 40434113 + Nonsense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:40434113G>T uc002omp.3 - 2 164 c.156C>A c.(154-156)TAC>TAA p.Y52* NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 52 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGAGGCGGGGGTAGGCCTTGC 0.577 NA 19 65 1.28384e-07 1.56641e-07 0.012319 1 0 ZNF225 7768 broad.mit.edu 37 19 44635941 44635941 + Nonsense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:44635941C>T uc002oyj.1 + 5 1417 c.1174C>T c.(1174-1176)CGA>TGA p.R392* ZNF225_uc010eje.1_Nonsense_Mutation_p.R309*|ZNF225_uc010ejf.1_Nonsense_Mutation_p.R392* NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 392 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AAGACATGTGCGAGTCCACAG 0.428 NA 9 93 0 0 0.008291 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307742 46307742 + Missense_Mutation SNP G G A rs76423334 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:46307742G>A uc002pdm.2 - 3 1564 c.1421C>T c.(1420-1422)CCG>CTG p.P474L RSPH6A_uc002pdl.2_Missense_Mutation_p.P210L NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 474 intracellular ovary(1)|central_nervous_system(1) 2 CTCGTTGCCCGGGAAGGGTGG 0.632 NA 4 53 0 0 0.000602 0 0 ZNF813 126017 broad.mit.edu 37 19 53995018 53995018 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:53995018C>T uc002qbu.2 + 4 1660 c.1532C>T c.(1531-1533)GCA>GTA p.A511V ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 511 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ACACACCTTGCATGTCATCAT 0.388 NA 3 37 0 0 0.004672 0 0 ZNF551 90233 broad.mit.edu 37 19 58196753 58196753 + Missense_Mutation SNP G G T rs142211450 by1000genomes TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:58196753G>T uc002qpw.3 + 2 380 c.157G>T c.(157-159)GGT>TGT p.G53C ZNF551_uc002qpv.3_Intron|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AACATCCCTGGGTAAGGCCCT 0.478 NA 22 175 6.32553e-13 8.91166e-13 0.004656 1 0 C19orf18 147685 broad.mit.edu 37 19 58472789 58472789 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:58472789C>T uc002qqv.2 - 5 606 c.502G>A c.(502-504)GAA>AAA p.E168K NM_152474 NP_689687 Q8NEA5 CS018_HUMAN hypothetical protein LOC147685 precursor 168 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) AGCTCATTTTCGTTCTCTGGA 0.488 NA 4 69 0 0 0.000602 0 0 ZNF638 27332 broad.mit.edu 37 2 71629097 71629097 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:71629097A>C uc002shx.2 + 16 3028 c.2709A>C c.(2707-2709)GAA>GAC p.E903D ZNF638_uc010yqw.1_Missense_Mutation_p.E482D|ZNF638_uc002shy.2_Missense_Mutation_p.E903D|ZNF638_uc002shz.2_Missense_Mutation_p.E903D|ZNF638_uc002sia.2_Missense_Mutation_p.E903D|ZNF638_uc002sib.1_Missense_Mutation_p.E903D|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_5'UTR NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 903 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AAACAGAAGAAATGTGTGTGA 0.269 NA 5 58 0 0 0.000602 0 0 C2orf51 200523 broad.mit.edu 37 2 88828809 88828809 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:88828809G>T uc002stb.1 + 4 502 c.360G>T c.(358-360)CAG>CAT p.Q120H NM_152670 NP_689883 Q96LM6 TSC21_HUMAN chromosome 2 open reading frame 51 120 nucleus skin(1) 1 ACCTGGCCCAGGGTGACCCCA 0.592 NA 23 64 6.44725e-10 8.47448e-10 0.014323 1 0 C2orf51 200523 broad.mit.edu 37 2 88828903 88828903 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:88828903C>A uc002stb.1 + 4 596 c.454C>A c.(454-456)CTA>ATA p.L152I NM_152670 NP_689883 Q96LM6 TSC21_HUMAN chromosome 2 open reading frame 51 152 nucleus skin(1) 1 AGGCTACCTGCTACTGCCAGG 0.562 NA 23 49 1.10923e-09 1.44313e-09 0.00278 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125530567 125530567 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:125530567C>A uc002tno.2 + 17 3086 c.2722C>A c.(2722-2724)CTG>ATG p.L908M CNTNAP5_uc010flu.2_Missense_Mutation_p.L909M NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 908 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CCATTTTCGACTGCAGCTGAA 0.532 NA 38 81 3.09479e-21 4.78285e-21 0.006999 1 0 NCKAP5 344148 broad.mit.edu 37 2 133543111 133543111 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:133543111C>T uc002ttp.2 - 14 1647 c.1273G>A c.(1273-1275)GGT>AGT p.G425S NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 425 protein binding 0 TCTTTATAACCCCATTTGGTT 0.438 NA 5 81 0 0 0.001168 0 0 PDK1 5163 broad.mit.edu 37 2 173435514 173435514 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:173435514G>A uc002uhr.2 + 8 1007 c.907G>A c.(907-909)GTT>ATT p.V303I PDK1_uc010zdz.1_Missense_Mutation_p.V148I|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Missense_Mutation_p.V323I|PDK1_uc002uhs.2_Missense_Mutation_p.V303I|PDK1_uc010zeb.1_Missense_Mutation_p.V323I NM_002610 NP_002601 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase 1 precursor 303 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.12) CCCTATTCAAGTTCATGTCAC 0.353 NA Autosomal_Dominant_Polycystic_Kidney_Disease 20 48 0 0 0.00333 0 0 DNAH7 56171 broad.mit.edu 37 2 196825586 196825586 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:196825586C>A uc002utj.3 - 18 2390 c.2289G>T c.(2287-2289)TTG>TTT p.L763F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 763 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GATAAGGGTTCAAGCCATCTT 0.393 NA 7 133 2.7689e-08 3.44424e-08 0.001984 1 0 MDH1B 130752 broad.mit.edu 37 2 207615733 207615733 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:207615733C>A uc002vbs.2 - 6 1032 c.977G>T c.(976-978)AGG>ATG p.R326M MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.R326M|MDH1B_uc010fuj.2_Missense_Mutation_p.R228M|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 326 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TCTGTACACCCTTGTTTTTCT 0.338 Pancreas(76;29 1355 28675 37177 51207) NA 11 97 5.50884e-06 6.47352e-06 0.013537 1 0 C2orf80 389073 broad.mit.edu 37 2 209049756 209049757 + Splice_Site DNP CC CC AA TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:209049756_209049757CC>AA uc002vcr.2 - 3 214 c.42_splice c.e3-1 p.L14_splice NM_001099334 NP_001092804 Q0P641 CB080_HUMAN hypothetical protein LOC389073 skin(1) 1 TATAATCTCCCCTTAAAAGCAA 0.446 NA 9 61 0 0 0.004672 0 0 IKZF2 22807 broad.mit.edu 37 2 213872367 213872367 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:213872367C>A uc002vem.2 - 8 1467 c.1298G>T c.(1297-1299)AGC>ATC p.S433I IKZF2_uc010fuu.2_Missense_Mutation_p.S288I|IKZF2_uc002vej.2_Missense_Mutation_p.S380I|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.S359I|IKZF2_uc002vel.2_Missense_Mutation_p.S354I|IKZF2_uc010fuw.2_Missense_Mutation_p.S207I|IKZF2_uc010fux.2_Missense_Mutation_p.S207I|IKZF2_uc010fuy.2_Missense_Mutation_p.S361I|IKZF2_uc002ven.2_Missense_Mutation_p.S407I|IKZF2_uc002vei.2_Missense_Mutation_p.S211I NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GTAAGCTGGGCTTTGTTTCCT 0.493 NA 25 273 3.28513e-13 4.65393e-13 0.003954 1 0 ANO7 50636 broad.mit.edu 37 2 242149890 242149890 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr2:242149890G>A uc002wax.2 + 15 1731 c.1628G>A c.(1627-1629)CGC>CAC p.R543H NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 543 Extracellular (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 TAGGCCTCTCGCATCGCCAGC 0.642 NA 5 45 0 0 0.001168 0 0 PROKR2 128674 broad.mit.edu 37 20 5294904 5294904 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:5294904C>T uc010zqw.1 - 1 112 c.112G>A c.(112-114)GAT>AAT p.D38N PROKR2_uc010zqx.1_Missense_Mutation_p.D38N|PROKR2_uc010zqy.1_Missense_Mutation_p.D38N|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 38 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 TCATCCTCATCCATAGGGAGG 0.507 NA HNSCC(71;0.22) 15 82 0 0 0.004007 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47630484 47630484 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:47630484A>T uc002xtx.3 + 30 4318 c.4166A>T c.(4165-4167)GAG>GTG p.E1389V ARFGEF2_uc010zyf.1_Missense_Mutation_p.E682V NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1389 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AAACTCCCTGAGCAACTGTCA 0.483 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 19 106 0 0 0.008871 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871354 51871354 + Missense_Mutation SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:51871354T>A uc002xwo.2 + 2 2313 c.1357T>A c.(1357-1359)TGT>AGT p.C453S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 453 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGCATCAGATTGTACAGCCTC 0.458 NA 31 94 0 0 0.008361 0 0 ZNF217 7764 broad.mit.edu 37 20 52193560 52193560 + Silent SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:52193560A>G uc002xwq.3 - 3 2014 c.1743T>C c.(1741-1743)TCT>TCC p.S581S ZNF217_uc010gij.1_Silent_p.S573S NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 581 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TCTGAAAAACAGAAGGCATCT 0.443 NA 41 76 0 0 0.00623 0 0 CASS4 57091 broad.mit.edu 37 20 55012553 55012553 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:55012553C>A uc002xxp.2 + 3 595 c.370C>A c.(370-372)CAG>AAG p.Q124K CASS4_uc002xxq.3_Missense_Mutation_p.Q124K|CASS4_uc002xxr.2_Missense_Mutation_p.Q124K|CASS4_uc010zze.1_Intron|CASS4_uc010gio.2_Missense_Mutation_p.Q124K NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 124 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 GGAGGGGCCCCAGCCCCCTAC 0.582 NA 23 90 5.35356e-11 7.33956e-11 0.00278 1 0 SLMO2 51012 broad.mit.edu 37 20 57613683 57613683 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr20:57613683C>A uc002yam.2 - 2 155 c.39G>T c.(37-39)CCG>CCT p.P13P SLMO2_uc010zzv.1_Silent_p.P13P NM_016045 NP_057129 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 13 PRELI/MSF1. skin(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) CAGTTTCCCACGGGTGGCTGC 0.358 NA 22 90 8.10497e-08 9.98439e-08 0.010504 1 0 TPTE 7179 broad.mit.edu 37 21 10941911 10941911 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:10941911G>T uc002yip.1 - 14 1160 c.792C>A c.(790-792)ATC>ATA p.I264I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.I246I|TPTE_uc002yir.1_Silent_p.I226I|TPTE_uc010gkv.1_Silent_p.I126I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 264 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCCTTACCTTGATTGGATTTC 0.313 NA 37 184 1.90571e-15 2.77689e-15 0.004289 1 0 BAGE2 85319 broad.mit.edu 37 21 11097584 11097584 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:11097584C>A uc002yit.1 - 2 286 c.78G>T c.(76-78)GTG>GTT p.V26V BAGE_uc002yix.2_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tccagctcaccacaggggact 0.119 NA 4 61 0.00909568 0.00954485 0.009096 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28327084 28327084 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:28327084G>T uc002ymg.2 - 2 1940 c.1211C>A c.(1210-1212)GCA>GAA p.A404E NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 404 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 AGTGAAGGCTGCGTGGAGGCC 0.502 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 12 59 6.72482e-11 9.12144e-11 0.003163 1 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654799 31654799 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:31654799C>G uc002ynv.2 - 1 478 c.452G>C c.(451-453)TGC>TCC p.C151S NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 151 keratin filament structural molecule activity 0 TTGTCCAAAGCAGTTGGAACC 0.388 NA 49 98 0 0 0.01441 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46012274 46012274 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:46012274G>T uc002zfm.2 - 1 113 c.92C>A c.(91-93)TCC>TAC p.S31Y C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 31 keratin filament 0 CACCTGCCAGGAGTCGGAGCA 0.682 NA 5 27 8.12818e-05 9.21194e-05 0.001984 1 0 ADARB1 104 broad.mit.edu 37 21 46604837 46604837 + Splice_Site SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr21:46604837G>C uc002zgy.2 + 9 1952 c.1517_splice c.e9-1 p.E506_splice ADARB1_uc002zgr.2_Splice_Site_p.E506_splice|ADARB1_uc002zgs.2_Splice_Site|ADARB1_uc002zgw.2_Splice_Site_p.E466_splice|ADARB1_uc002zgv.2_Splice_Site|ADARB1_uc002zgt.2_Splice_Site_p.E466_splice|ADARB1_uc010gpx.2_Splice_Site|ADARB1_uc002zgq.2_Splice_Site|ADARB1_uc002zgu.2_Splice_Site NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) TTCTCTCTTAGAACCAGCAGA 0.398 NA 10 116 0 0 0.008291 0 0 SCN10A 6336 broad.mit.edu 37 3 38770309 38770309 + Silent SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:38770309C>G uc003ciq.2 - 15 2364 c.2364G>C c.(2362-2364)GGG>GGC p.G788G NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 788 II. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGTGAGGTTCCCCAGTGCCC 0.502 NA 5 50 0 0 0.000602 0 0 COL7A1 1294 broad.mit.edu 37 3 48630019 48630019 + Missense_Mutation SNP G G T rs141801873 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:48630019G>T uc003ctz.2 - 7 961 c.960C>A c.(958-960)AGC>AGA p.S320R NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 320 Nonhelical region (NC1).|Fibronectin type-III 1. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAGCTGTCCCGCTCACAGCCT 0.617 NA 9 30 0.000274275 0.000306755 0.004482 1 0 RNF123 63891 broad.mit.edu 37 3 49744330 49744330 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:49744330A>T uc003cxh.2 + 26 2581 c.2495A>T c.(2494-2496)CAG>CTG p.Q832L RNF123_uc010hky.1_Missense_Mutation_p.Q494L|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 832 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GTCTACTCCCAGGTGTGCTGG 0.597 NA 13 29 0 0 0.013537 0 0 PROS1 5627 broad.mit.edu 37 3 93593234 93593234 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:93593234G>A uc003drb.3 - 15 2227 c.1886C>T c.(1885-1887)GCC>GTC p.A629V PROS1_uc010hoo.2_Missense_Mutation_p.A498V|PROS1_uc003dqz.3_Missense_Mutation_p.A498V NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 629 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CACTGGTGTGGCACTGAATGG 0.353 NA 5 49 0 0 0.000602 0 0 HCLS1 3059 broad.mit.edu 37 3 121356023 121356023 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:121356023C>G uc003eeh.3 - 7 660 c.535G>C c.(535-537)GGA>CGA p.G179R HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 179 Cortactin 3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) TCCGTCTCTCCCTTGTAGTCA 0.542 NA 18 33 0 0 0.008871 0 0 GOLGB1 2804 broad.mit.edu 37 3 121413585 121413585 + Nonsense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:121413585C>A uc003eei.3 - 13 5896 c.5770G>T c.(5770-5772)GAG>TAG p.E1924* GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E1929*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E1890*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E1810*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E1888* NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1924 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) ATAAGCCTCTCTTCCAAATCA 0.368 NA 56 126 1.54886e-18 2.33704e-18 0.01441 1 0 KALRN 8997 broad.mit.edu 37 3 124377365 124377365 + Splice_Site SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:124377365G>A uc003ehg.2 + 42 6247 c.6120_splice c.e42+1 p.E2040_splice KALRN_uc003ehi.2_Splice_Site_p.E381_splice|KALRN_uc003ehk.2_Splice_Site_p.E343_splice|KALRN_uc011bjz.1_Splice_Site_p.E132_splice NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CTACTTTGAGGTAAGCTGTGC 0.507 NA 12 50 0 0 0.010729 0 0 SRPRB 58477 broad.mit.edu 37 3 133525539 133525539 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:133525539T>G uc003epx.1 + 2 257 c.241T>G c.(241-243)TTT>GTT p.F81V NM_021203 NP_067026 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, beta 81 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity ovary(1) 1 AACGTTGCTCTTTGTCAGGGT 0.403 NA 5 75 0 0 0.001168 0 0 CLDN18 51208 broad.mit.edu 37 3 137742593 137742593 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:137742593G>A uc003ero.1 + 2 367 c.314G>A c.(313-315)CGC>CAC p.R105H CLDN18_uc003erp.1_Missense_Mutation_p.R105H|CLDN18_uc010hue.1_Silent_p.P100P NM_001002026 NP_001002026 P56856 CLD18_HUMAN claudin 18 isoform 2 105 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity upper_aerodigestive_tract(1)|ovary(1) 2 AAATGCATCCGCATTGGCAGC 0.557 NA 17 41 0 0 0.00499 0 0 RSRC1 51319 broad.mit.edu 37 3 158261251 158261251 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:158261251A>G uc003fbt.2 + 9 998 c.887A>G c.(886-888)GAT>GGT p.D296G RSRC1_uc003fbv.2_Missense_Mutation_p.D238G NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 296 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAGTACCAAGATGACAATTCC 0.388 NA 28 117 0 0 0.010818 0 0 MECOM 2122 broad.mit.edu 37 3 168840508 168840508 + Missense_Mutation SNP T T C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:168840508T>C uc003ffi.3 - 5 543 c.274A>G c.(274-276)AAA>GAA p.K92E MECOM_uc010hwk.1_Missense_Mutation_p.K115E|MECOM_uc003ffj.3_Missense_Mutation_p.K156E|MECOM_uc011bpi.1_Missense_Mutation_p.K92E|MECOM_uc003ffn.3_Missense_Mutation_p.K92E|MECOM_uc003ffk.2_Missense_Mutation_p.K92E|MECOM_uc003ffl.2_Missense_Mutation_p.K252E|MECOM_uc011bpj.1_Missense_Mutation_p.K280E|MECOM_uc011bpk.1_Missense_Mutation_p.K82E|MECOM_uc010hwn.2_Missense_Mutation_p.K280E|MECOM_uc003ffm.1_Missense_Mutation_p.K156E NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 92 Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 2. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AGCATGTGTTTCTCCAGGCTG 0.368 NA 6 71 0 0 0.001984 0 0 KLHL24 54800 broad.mit.edu 37 3 183397003 183397003 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:183397003A>G uc003flv.2 + 8 2027 c.1732A>G c.(1732-1734)ATG>GTG p.M578V KLHL24_uc003flw.2_Missense_Mutation_p.M578V NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 578 Kelch 6. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GGTAGCTGCAATGCCCAGGCC 0.443 NA 28 62 0 0 0.008361 0 0 NCBP2 22916 broad.mit.edu 37 3 196664485 196664485 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:196664485G>A uc003fxd.1 - 3 385 c.295C>T c.(295-297)CGG>TGG p.R99W NCBP2_uc003fxb.1_Missense_Mutation_p.R29W|NCBP2_uc011btz.1_Missense_Mutation_p.R81W|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Missense_Mutation_p.R46W|NCBP2_uc003fxf.2_3'UTR NM_007362 NP_031388 P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 99 RRM. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) TTTATGTACCGCATGGCGTTT 0.488 NA 4 94 0 0 0.000602 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978338 69978338 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:69978338G>A uc003heg.3 + 6 1520 c.1474G>A c.(1474-1476)GAT>AAT p.D492N UGT2B7_uc010ihq.2_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 492 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 CCACTCTTTGGATGTGATTGG 0.458 NA 17 138 0 0 0.00499 0 0 BANK1 55024 broad.mit.edu 37 4 102839313 102839313 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:102839313C>T uc003hvy.3 + 7 1447 c.1173C>T c.(1171-1173)CAC>CAT p.H391H BANK1_uc003hvx.3_Silent_p.H376H|BANK1_uc010ill.2_Silent_p.H258H|BANK1_uc003hvz.3_Silent_p.H361H NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 391 ANK 2. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GGCATGGTCACAAAGAACTCA 0.358 NA 7 74 0 0 0.001984 0 0 TACR3 6870 broad.mit.edu 37 4 104512654 104512654 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:104512654G>T uc003hxe.1 - 4 1218 c.1075C>A c.(1075-1077)CTG>ATG p.L359M NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 359 Helical; Name=7; (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CTTTTATTCAGACAGCAGTAG 0.398 NA 22 71 2.89027e-11 4.00553e-11 0.014323 1 0 CYP2U1 113612 broad.mit.edu 37 4 108868619 108868619 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:108868619C>A uc003hyp.2 + 3 1297 c.1214C>A c.(1213-1215)GCC>GAC p.A405D CYP2U1_uc011cfi.1_Missense_Mutation_p.A196D NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, 405 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) TACACAGAAGCCACCATCATG 0.498 NA 19 41 8.00594e-06 9.36475e-06 0.007413 1 0 ODZ3 55714 broad.mit.edu 37 4 183675836 183675836 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr4:183675836C>T uc003ivd.1 + 21 4353 c.4316C>T c.(4315-4317)TCC>TTC p.S1439F ODZ3_uc003ive.1_Missense_Mutation_p.S852F NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1439 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGAGAAATCTCCTTAGTGGCC 0.468 NA 8 34 0 0 0.00308 0 0 CDH12 1010 broad.mit.edu 37 5 21975427 21975427 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:21975427G>A uc010iuc.2 - 3 757 c.299C>T c.(298-300)ACC>ATC p.T100I CDH12_uc011cno.1_Missense_Mutation_p.T100I|CDH12_uc003jgk.2_Missense_Mutation_p.T100I NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 100 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GGTAAAAACGGTGCCAGCGCC 0.433 NA HNSCC(59;0.17) 44 112 0 0 0.01441 0 0 CCNB1 891 broad.mit.edu 37 5 68467140 68467140 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:68467140C>A uc003jvm.2 + 4 584 c.407C>A c.(406-408)GCC>GAC p.A136D CCNB1_uc011crd.1_Missense_Mutation_p.A136D|CCNB1_uc010ixb.2_Missense_Mutation_p.A136D NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 136 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TCTGGATGTGCCCCTGCAGAA 0.423 NA 7 88 8.12818e-05 9.21194e-05 0.001984 1 0 CMYA5 202333 broad.mit.edu 37 5 79030937 79030937 + Missense_Mutation SNP G G C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:79030937G>C uc003kgc.2 + 2 6421 c.6349G>C c.(6349-6351)GAT>CAT p.D2117H NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2117 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGATGATGCTGATGAGGGAAA 0.438 NA 20 49 0 0 0.008871 0 0 ATG10 83734 broad.mit.edu 37 5 81460256 81460256 + Missense_Mutation SNP T T G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:81460256T>G uc003khs.2 + 5 684 c.255T>G c.(253-255)ATT>ATG p.I85M ATG10_uc003khr.2_Missense_Mutation_p.I85M|ATG10_uc010jas.2_Missense_Mutation_p.I49M NM_001131028 NP_001124500 Q9H0Y0 ATG10_HUMAN APG10 autophagy 10-like 85 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding 0 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) GTGAAGTGATTGAAACTGCAG 0.378 NA 49 85 0 0 0.01441 0 0 FBN2 2201 broad.mit.edu 37 5 127599195 127599195 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:127599195G>T uc003kuu.2 - 63 8553 c.8114C>A c.(8113-8115)CCC>CAC p.P2705H NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2705 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTAATTGCAGGGGTTCTTGGA 0.612 NA 19 132 1.00905e-13 1.43747e-13 0.008871 1 0 PCDHA8 56140 broad.mit.edu 37 5 140222229 140222229 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140222229G>A uc003lhs.2 + 1 1323 c.1323G>A c.(1321-1323)TTG>TTA p.L441L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L441L NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 441 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCAGCTTGTCTGTGGAGG 0.662 NA 6 89 0 0 0.001984 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529991 140529991 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140529991G>A uc003lir.2 + 1 153 c.153G>A c.(151-153)CTG>CTA p.L51L PCDHB6_uc011dah.1_Intron NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 51 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAAGGACCTGGGACTGAGGG 0.512 NA 32 120 0 0 0.008361 0 0 PCDHB17 54661 broad.mit.edu 37 5 140536921 140536921 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140536921G>A uc003lis.2 + 1 1342 c.1342G>A c.(1342-1344)GCC>ACC p.A448T NR_001280 SubName: Full=Protocadherin-psi1; 0 CAATGACAACGCCCCCGCCTT 0.587 NA 5 91 0 0 0.001984 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573077 140573077 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140573077A>T uc003lix.2 + 1 1126 c.952A>T c.(952-954)AAT>TAT p.N318Y NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 318 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTACAAAATAAATATACAGGC 0.378 NA 7 156 0 0 0.00308 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590351 140590351 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:140590351G>A uc003liz.2 + 1 2061 c.1872G>A c.(1870-1872)GTG>GTA p.V624V PCDHB12_uc011dak.1_Silent_p.V287V NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 624 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGCGAGGTGCGCACCGCCA 0.706 NA 5 91 0 0 0.00308 0 0 FAT2 2196 broad.mit.edu 37 5 150943179 150943179 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:150943179G>T uc003lue.3 - 2 3294 c.3281C>A c.(3280-3282)CCC>CAC p.P1094H GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.P1094H NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1094 Cadherin 9.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGGTCCAGGGGTGCCAGAGT 0.473 NA 4 44 1.23904e-05 1.42966e-05 0.000602 1 0 EBF1 1879 broad.mit.edu 37 5 158223455 158223455 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr5:158223455C>T uc010jip.2 - 9 1109 c.807G>A c.(805-807)CCG>CCA p.P269P EBF1_uc011ddw.1_Silent_p.P137P|EBF1_uc011ddx.1_Silent_p.P270P|EBF1_uc003lxl.3_Silent_p.P238P NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 269 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCCTTCACTCGGGCTGATGG 0.463 NA T HMGA2 lipoma 4 66 0 0 0.009096 0 0 NQO2 4835 broad.mit.edu 37 6 3006783 3006783 + Translation_Start_Site SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:3006783C>T uc003mus.2 + 2 335 c.-3C>T c.(-5--1)TACGC>TATGC NQO2_uc003mup.1_Translation_Start_Site|NQO2_uc003mut.2_Translation_Start_Site NM_000904 NP_000895 P16083 NQO2_HUMAN NAD(P)H dehydrogenase, quinone 2 cytoplasm|nucleus coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity ovary(1) 1 Ovarian(93;0.0412) all_hematologic(90;0.0895) Menadione(DB00170)|NADH(DB00157) CACCTTCTTACGCTATGGCAG 0.333 NA 3 15 0 0 0.009096 0 0 RPP40 10799 broad.mit.edu 37 6 5000118 5000118 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:5000118C>A uc003mwl.2 - 4 393 c.358G>T c.(358-360)GAT>TAT p.D120Y RPP40_uc003mwm.2_Missense_Mutation_p.D97Y NM_006638 NP_006629 O75818 RPP40_HUMAN ribonuclease P 40kDa subunit 120 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 Ovarian(93;0.11) all_hematologic(90;0.0895) GTGTCTTTATCCAGTGACAAA 0.333 NA 55 67 1.13205e-32 1.82704e-32 0.01441 1 0 SCAND3 114821 broad.mit.edu 37 6 28542849 28542849 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:28542849G>T uc003nlo.2 - 3 2251 c.1633C>A c.(1633-1635)CAT>AAT p.H545N NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 545 Potential. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTTTCTGTATGCAAGCTGGCA 0.403 NA 10 99 0.00621372 0.0066297 0.006214 1 0 HSPA1L 3305 broad.mit.edu 37 6 31779552 31779552 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:31779552C>T uc003nxh.2 - 2 381 c.198G>A c.(196-198)CAG>CAA p.Q66Q HSPA1L_uc010jte.2_Silent_p.Q66Q NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 66 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 AAACAGTGTTCTGGGGATTCA 0.493 NA 84 63 0 0 0.01441 0 0 TNXB 7148 broad.mit.edu 37 6 32011892 32011893 + Missense_Mutation DNP GG GG TT TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:32011892_32011893GG>TT uc003nzl.2 - 34 11473_11474 c.11271_11272CC>AA c.(11269-11274)CCCCGT>CCAAGT p.R3758S TNXB_uc003nzg.1_Missense_Mutation_p.R189S|TNXB_uc003nzh.1_Missense_Mutation_p.R227S NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3805 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGGAGGTCACGGGGGCTCTCCA 0.619 NA 6 4 0 0 0.004672 0 0 NOTCH4 4855 broad.mit.edu 37 6 32184793 32184794 + Missense_Mutation DNP GG GG TT TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:32184793_32184794GG>TT uc003obb.2 - 11 1928_1929 c.1789_1790CC>AA c.(1789-1791)CCA>AAA p.P597K NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.P597K NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 597 EGF-like 15; calcium-binding (Potential).|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 AACGGGACATGGGTCACTCAGG 0.584 NA 29 29 0 0 0.004672 0 0 C6orf127 340204 broad.mit.edu 37 6 35755685 35755685 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:35755685C>A uc003old.3 + 3 321 c.264C>A c.(262-264)AAC>AAA p.N88K NM_001010886 NP_001010886 A2RUU4 CF127_HUMAN hypothetical protein LOC340204 precursor 88 digestion|lipid catabolic process extracellular region enzyme activator activity skin(1) 1 GCCTGCGGAACCTGACTTGTA 0.483 NA 33 58 4.31634e-10 5.73263e-10 0.012213 1 0 TBC1D22B 55633 broad.mit.edu 37 6 37250728 37250728 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:37250728G>A uc003onn.2 + 5 818 c.672G>A c.(670-672)TCG>TCA p.S224S TBC1D22B_uc010jwt.2_RNA NM_017772 NP_060242 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 224 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 OV - Ovarian serous cystadenocarcinoma(102;0.241) GACTCCTGTCGGTGAGTTCTA 0.483 NA 9 21 0 0 0.004482 0 0 HTR1E 3354 broad.mit.edu 37 6 87726029 87726029 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:87726029C>A uc003pli.2 + 2 1680 c.977C>A c.(976-978)GCC>GAC p.A326D NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 326 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCGGAAGTGGCCGACTTTCTG 0.448 NA 59 83 6.26901e-30 1.00541e-29 0.01441 1 0 CASP8AP2 9994 broad.mit.edu 37 6 90556331 90556331 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:90556331G>T uc003pnr.2 + 2 219 c.23G>T c.(22-24)GGT>GTT p.G8V CASP8AP2_uc003pns.2_Missense_Mutation_p.G8V|CASP8AP2_uc003pnt.2_Missense_Mutation_p.G8V|CASP8AP2_uc011dzz.1_Missense_Mutation_p.G8V NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 8 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GATGACAATGGTGATGGAACA 0.264 Colon(187;1656 2025 17045 31481 39901) NA 7 10 1.76689e-08 2.20862e-08 0.006214 1 0 BACH2 60468 broad.mit.edu 37 6 90660894 90660894 + Missense_Mutation SNP G G A rs148083597 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:90660894G>A uc011eab.1 - 7 1740 c.931C>T c.(931-933)CGG>TGG p.R311W BACH2_uc003pnw.2_Missense_Mutation_p.R311W|BACH2_uc010kch.2_Missense_Mutation_p.R311W NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 311 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGCTGTTTCCGGTCCATCTCG 0.647 NA 6 36 0 0 0.001168 0 0 EPHA7 2045 broad.mit.edu 37 6 94066483 94066483 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:94066483G>T uc003poe.2 - 5 1517 c.1276C>A c.(1276-1278)CGA>AGA p.R426R EPHA7_uc003pof.2_Silent_p.R426R|EPHA7_uc011eac.1_Silent_p.R426R NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 426 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity p.R426*(1) lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTCTGGGATCGGCTTAAGTCA 0.418 NA 27 29 3.80469e-20 5.77498e-20 0.009535 1 0 SYNE1 23345 broad.mit.edu 37 6 152804280 152804280 + Silent SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr6:152804280G>T uc010kiw.2 - 14 1892 c.1290C>A c.(1288-1290)ACC>ACA p.T430T SYNE1_uc003qot.3_Silent_p.T437T|SYNE1_uc003qou.3_Silent_p.T430T|SYNE1_uc010kjb.1_Silent_p.T413T|SYNE1_uc003qpa.1_Silent_p.T430T|SYNE1_uc003qox.1_5'UTR NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 430 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) CCTGTTGAACGGTTATTTCCT 0.483 NA HNSCC(10;0.0054) 78 97 1.1397e-45 1.875e-45 0.01441 1 0 SDK1 221935 broad.mit.edu 37 7 3991446 3991446 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:3991446C>T uc003smx.2 + 7 1183 c.1044C>T c.(1042-1044)ACC>ACT p.T348T NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 348 Ig-like C2-type 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GACGCCTCACCATCAGCAACC 0.617 NA 8 97 0 0 0.00308 0 0 AOAH 313 broad.mit.edu 37 7 36763656 36763656 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:36763656G>T uc003tfh.3 - 1 499 c.98C>A c.(97-99)CCC>CAC p.P33H AOAH_uc010kxf.2_Missense_Mutation_p.P33H|AOAH_uc011kba.1_Missense_Mutation_p.P33H NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 33 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 CGAGAGGCTGGGCCTGGACTG 0.483 NA 20 33 1.2644e-06 1.50665e-06 0.010504 1 0 ABCA13 154664 broad.mit.edu 37 7 48413973 48413973 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:48413973A>T uc003toq.2 + 34 11188 c.11163A>T c.(11161-11163)CAA>CAT p.Q3721H ABCA13_uc010kys.1_Missense_Mutation_p.Q795H|ABCA13_uc003tos.1_Missense_Mutation_p.Q547H|ABCA13_uc010kyt.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3721 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCTTTGGACAAGGGGTATTTT 0.413 NA 6 29 0 0 0.001984 0 0 IKZF1 10320 broad.mit.edu 37 7 50468246 50468246 + Missense_Mutation SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:50468246T>A uc003tow.3 + 9 1649 c.1481T>A c.(1480-1482)ATG>AAG p.M494K IKZF1_uc003tox.3_Missense_Mutation_p.M452K|IKZF1_uc003toy.3_Missense_Mutation_p.M452K|IKZF1_uc011kck.1_Missense_Mutation_p.M407K|IKZF1_uc003toz.3_Missense_Mutation_p.M464K|IKZF1_uc010kyx.2_Missense_Mutation_p.M234K|IKZF1_uc003tpa.3_Missense_Mutation_p.M236K NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 494 C2H2-type 6. cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GAGTGCAACATGTGCGGCTAC 0.602 NA D ALL 3 30 0 0 0.004672 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:55259515T>G uc003tqk.2 + 21 2819 c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample). 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.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 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) GATTTTGGGCTGGCCAAACTG 0.537 L858R(NCIH1975_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 15 75 0 0 0.00245 0 0 PEX1 5189 broad.mit.edu 37 7 92130962 92130962 + Missense_Mutation SNP G G T rs145430946 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:92130962G>T uc003uly.2 - 15 2538 c.2442C>A c.(2440-2442)TTC>TTA p.F814L PEX1_uc011khr.1_Missense_Mutation_p.F606L|PEX1_uc010ley.2_Missense_Mutation_p.F757L|PEX1_uc011khs.1_Missense_Mutation_p.F492L|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 814 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GAGCCTTTTGGAAGTCCAATG 0.363 NA 9 72 2.74318e-10 3.66236e-10 0.006214 1 0 MUC17 140453 broad.mit.edu 37 7 100682069 100682069 + Missense_Mutation SNP T T A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:100682069T>A uc003uxp.1 + 3 7425 c.7372T>A c.(7372-7374)TTA>ATA p.L2458I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2458 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|39. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACCACTCCGTTAGCAAGTAT 0.532 NA 32 207 0 0 0.009535 0 0 LAMB4 22798 broad.mit.edu 37 7 107708591 107708591 + Missense_Mutation SNP G G C rs140790836 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:107708591G>C uc010ljo.1 - 19 2400 c.2316C>G c.(2314-2316)CAC>CAG p.H772Q LAMB4_uc003vey.2_Missense_Mutation_p.H772Q NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 772 Laminin EGF-like 6. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 AGCCCTGGGGGTGACACTTGC 0.547 NA 24 29 0 0 0.00333 0 0 TMEM168 64418 broad.mit.edu 37 7 112423771 112423771 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:112423771C>A uc003vgn.2 - 2 1502 c.1110G>T c.(1108-1110)TTG>TTT p.L370F TMEM168_uc010lju.2_Missense_Mutation_p.L370F|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 370 Helical; (Potential). integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 AAACTGCTCCCAAAATCGCTG 0.398 NA 50 91 1.56793e-16 2.3111e-16 0.01441 1 0 SMO 6608 broad.mit.edu 37 7 128851599 128851599 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:128851599G>T uc003vor.2 + 11 2204 c.1924G>T c.(1924-1926)GTG>TTG p.V642L SMO_uc003vos.2_Missense_Mutation_p.V317L NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 642 Cytoplasmic (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 TGTCACCCCTGTGGCAACTCC 0.602 NA Mis skin basal cell 19 48 7.45023e-12 1.03815e-11 0.010504 1 0 AKR1B15 441282 broad.mit.edu 37 7 134254279 134254279 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:134254279A>G uc011kpr.1 + 5 732 c.433A>G c.(433-435)AAG>GAG p.K145E AKR1B15_uc003vrt.2_Missense_Mutation_p.K117E|AKR1B15_uc011kps.1_Missense_Mutation_p.K117E NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 145 oxidoreductase activity ovary(1) 1 ACAGGGATTCAAGGTTTGAGT 0.348 NA 20 57 0 0 0.012319 0 0 TRPV6 55503 broad.mit.edu 37 7 142583208 142583208 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:142583208C>T uc003wbx.1 - 1 270 c.54G>A c.(52-54)AAG>AAA p.K18K NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 18 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) ATCTGCAGAACTTGCTCCATA 0.612 NA 16 139 0 0 0.004007 0 0 MLL3 58508 broad.mit.edu 37 7 151873473 151873473 + Missense_Mutation SNP G G A rs141345566 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr7:151873473G>A uc003wla.2 - 38 9284 c.9065C>T c.(9064-9066)ACC>ATC p.T3022I MLL3_uc003wkz.2_Missense_Mutation_p.T2083I|MLL3_uc003wky.2_Missense_Mutation_p.T531I NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3022 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CATGCTACTGGTACCAGACTG 0.478 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 25 89 0 0 0.004656 0 0 CSMD1 64478 broad.mit.edu 37 8 2823383 2823383 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:2823383G>T uc011kwk.1 - 59 9587 c.9197C>A c.(9196-9198)CCA>CAA p.P3066Q CSMD1_uc011kwj.1_Missense_Mutation_p.P2395Q|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3066 Extracellular (Potential).|Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GACATAGCCTGGGTTACACTG 0.483 NA 9 4 4.68919e-08 5.80458e-08 0.008291 1 0 OPRK1 4986 broad.mit.edu 37 8 54142117 54142118 + Missense_Mutation DNP GG GG TT TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:54142117_54142118GG>TT uc003xrh.1 - 3 1257_1258 c.882_883CC>AA c.(880-885)ATCCTG>ATAATG p.L295M OPRK1_uc003xri.1_Missense_Mutation_p.L295M|OPRK1_uc010lyc.1_Missense_Mutation_p.L206M NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 295 Helical; Name=6; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GCCTCCACCAGGATGAATATGT 0.554 NA 12 11 0 0 0.004672 0 0 TRPS1 7227 broad.mit.edu 37 8 116631634 116631634 + Nonsense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:116631634C>A uc003ynz.2 - 2 1111 c.652G>T c.(652-654)GAG>TAG p.E218* TRPS1_uc011lhy.1_Nonsense_Mutation_p.E222*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E231*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E218* NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 218 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCCTGAAGCTCTGGAGACAGA 0.453 NA Langer-Giedion_syndrome 41 76 1.5731e-28 2.50713e-28 0.011902 1 0 ZC3H3 23144 broad.mit.edu 37 8 144557623 144557623 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:144557623G>A uc003yyd.2 - 5 1877 c.1848C>T c.(1846-1848)CTC>CTT p.L616L NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 616 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) AGGTCTTGGAGAGCTTGTTGG 0.672 NA 5 47 0 0 0.001984 0 0 PLEC 5339 broad.mit.edu 37 8 144991017 144991017 + Silent SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr8:144991017G>A uc003zaf.1 - 32 13553 c.13383C>T c.(13381-13383)CCC>CCT p.P4461P PLEC_uc003zab.1_Silent_p.P4324P|PLEC_uc003zac.1_Silent_p.P4328P|PLEC_uc003zad.2_Silent_p.P4324P|PLEC_uc003zae.1_Silent_p.P4292P|PLEC_uc003zag.1_Silent_p.P4302P|PLEC_uc003zah.2_Silent_p.P4310P|PLEC_uc003zaj.2_Silent_p.P4351P NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4461 Globular 2.|Plectin 30. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CACCGGTGCTGGGGTCGATGA 0.652 NA 8 58 0 0 0.00308 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18622297 18622297 + Silent SNP C C A rs143328816 TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:18622297C>A uc003zne.3 + 5 658 c.531C>A c.(529-531)GTC>GTA p.V177V ADAMTSL1_uc003znb.2_Silent_p.V177V|ADAMTSL1_uc003znc.3_Silent_p.V177V NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 177 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) ACTGTGGGGTCTGCAACGGAG 0.527 NA 18 32 1.67942e-08 2.11757e-08 0.006122 1 0 FLJ46321 389763 broad.mit.edu 37 9 84608465 84608465 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:84608465G>T uc004amn.2 + 4 3127 c.3080G>T c.(3079-3081)AGA>ATA p.R1027I NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1027 integral to membrane 0 TCCCTTAGAAGAGGTACTACA 0.448 NA 65 137 1.09529e-45 1.81364e-45 0.01441 1 0 C9orf79 286234 broad.mit.edu 37 9 90502272 90502272 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:90502272G>T uc004app.3 + 4 2905 c.2870G>T c.(2869-2871)GGG>GTG p.G957V NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 957 integral to membrane ovary(3) 3 AAGGGCAGGGGGTGTTCTCAG 0.622 NA 12 23 1.61879e-10 2.17259e-10 0.013537 1 0 PTPDC1 138639 broad.mit.edu 37 9 96859891 96859891 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:96859891A>G uc004auf.1 + 7 1221 c.881A>G c.(880-882)AAA>AGA p.K294R PTPDC1_uc004aug.1_Missense_Mutation_p.K294R|PTPDC1_uc004auh.1_Missense_Mutation_p.K346R|PTPDC1_uc010mrj.1_Missense_Mutation_p.K348R|PTPDC1_uc010mri.1_Missense_Mutation_p.K346R NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 294 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 CTAGTTTGCAAATTGCTGCTG 0.458 NA 14 56 0 0 0.001855 0 0 ZNF169 169841 broad.mit.edu 37 9 97054749 97054749 + Nonsense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:97054749G>T uc004aum.1 + 3 265 c.160G>T c.(160-162)GGA>TGA p.G54* ZNF169_uc004aun.2_Nonsense_Mutation_p.G54*|ZNF169_uc004auo.2_Nonsense_Mutation_p.G54* NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 54 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) GGTCTCCCTGGGTAAGGCTGG 0.483 NA 6 32 2.0095e-06 2.38336e-06 0.001984 1 0 ZNF462 58499 broad.mit.edu 37 9 109746587 109746587 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:109746587A>T uc004bcz.2 + 10 7242 c.6953A>T c.(6952-6954)CAT>CTT p.H2318L ZNF462_uc010mto.2_Missense_Mutation_p.H2227L|ZNF462_uc004bda.2_Missense_Mutation_p.H2226L|ZNF462_uc011lvz.1_Missense_Mutation_p.H275L|uc004bdc.1_Intron NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2318 C2H2-type 25. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CTCCAGCAACATATAGAAAAG 0.483 NA 9 58 0 0 0.004482 0 0 COL5A1 1289 broad.mit.edu 37 9 137704300 137704300 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:137704300G>T uc004cfe.2 + 47 4078 c.3696G>T c.(3694-3696)TTG>TTT p.L1232F NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1232 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTCAGGGTTTGCCAGGACCTC 0.542 NA 4 30 0.00909568 0.00954485 0.009096 1 0 SOHLH1 402381 broad.mit.edu 37 9 138590880 138590880 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr9:138590880G>T uc004cgl.2 - 2 219 c.158C>A c.(157-159)TCC>TAC p.S53Y SOHLH1_uc010nbe.2_Missense_Mutation_p.S53Y NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 53 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CCGAAGGCAGGAGCTGGGACC 0.701 NA 14 31 4.3838e-07 5.27297e-07 0.001855 1 0 ARSF 416 broad.mit.edu 37 X 3007540 3007540 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:3007540C>A uc004cre.1 + 7 1055 c.834C>A c.(832-834)CAC>CAA p.H278Q ARSF_uc004crf.1_Missense_Mutation_p.H278Q NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 278 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 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) TTCTCAGGCACAGTAAGGAAA 0.428 NA 27 103 1.68575e-08 2.11757e-08 0.007291 1 0 PLP2 5355 broad.mit.edu 37 X 49029519 49029519 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:49029519C>A uc004dmx.2 + 2 215 c.140C>A c.(139-141)CCA>CAA p.P47Q NM_002668 NP_002659 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic 47 MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity 0 GCCTCCACACCAGGCTACTCC 0.493 NA 9 33 2.17888e-05 2.50276e-05 0.006214 1 0 MAGEH1 28986 broad.mit.edu 37 X 55479280 55479280 + Missense_Mutation SNP A A C TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:55479280A>C uc004dum.2 + 1 743 c.473A>C c.(472-474)GAG>GCG p.E158A NM_014061 NP_054780 Q9H213 MAGH1_HUMAN melanoma antigen, family H, 1 protein 158 MAGE. apoptosis ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 AGTCCGGTGGAGTATGAGTTC 0.517 NA 6 59 0 0 0.001168 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479393 55479393 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:55479393G>A uc004dum.2 + 1 856 c.586G>A c.(586-588)GAC>AAC p.D196N NM_014061 NP_054780 Q9H213 MAGH1_HUMAN melanoma antigen, family H, 1 protein 196 MAGE. apoptosis ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TTGTAATTATGACTGGGATTC 0.522 NA 11 77 0 0 0.010729 0 0 POU3F4 5456 broad.mit.edu 37 X 82763714 82763714 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:82763714G>T uc004eeg.2 + 1 446 c.382G>T c.(382-384)GGC>TGC p.G128C NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 128 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CACGTCAAGCGGCCAACCCCT 0.667 NA 10 10 9.70103e-10 1.2686e-09 0.008291 1 0 PAK3 5063 broad.mit.edu 37 X 110366401 110366401 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:110366401G>A uc004epa.2 + 1 97 c.70G>A c.(70-72)GAT>AAT p.D24N PAK3_uc010npt.1_Missense_Mutation_p.D24N|PAK3_uc010npu.1_Missense_Mutation_p.D24N|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.D24N|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.D24N|PAK3_uc010npw.1_Missense_Mutation_p.D24N|uc004epb.2_5'Flank NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 24 multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 TAACAACCGGGATTCTTCAGC 0.488 NA TSP Lung(19;0.15) 78 71 0 0 0.01441 0 0 AGTR2 186 broad.mit.edu 37 X 115304043 115304043 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:115304043G>A uc004eqh.3 + 3 717 c.510G>A c.(508-510)ATG>ATA p.M170I NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 170 Helical; Name=4; (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 TTTGGTGTATGGCCTGTTTGT 0.418 NA 17 280 0 0 0.006122 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284535 118284535 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:118284535G>A uc004era.3 - 1 8 c.8C>T c.(7-9)GCC>GTC p.A3V NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 3 ovary(4)|skin(1) 5 CGTCCAGCCGGCCCTCATTTC 0.662 NA 24 46 0 0 0.00333 0 0 ATP1B4 23439 broad.mit.edu 37 X 119496040 119496040 + Missense_Mutation SNP G G A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:119496040G>A uc004esr.2 + 1 101 c.17G>A c.(16-18)CGG>CAG p.R6Q ATP1B4_uc004esq.2_Missense_Mutation_p.R6Q|ATP1B4_uc011mtx.1_Missense_Mutation_p.R6Q|ATP1B4_uc011mty.1_Missense_Mutation_p.R6Q NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 6 Nuclear (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 AGGCAACTCCGGTCCAGAAGG 0.522 NA 12 198 0 0 0.00245 0 0 UTP14A 10813 broad.mit.edu 37 X 129063425 129063425 + Silent SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:129063425C>G uc004euz.2 + 15 2185 c.2157C>G c.(2155-2157)CCC>CCG p.P719P UTP14A_uc011mup.1_Silent_p.P667P|UTP14A_uc011muq.1_Silent_p.P665P NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 719 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 TGACTACTCCCAAGGTCGTCA 0.507 NA 17 78 0 0 0.00499 0 0 BRS3 680 broad.mit.edu 37 X 135570341 135570341 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:135570341C>T uc004ezv.1 + 1 217 c.68C>T c.(67-69)TCA>TTA p.S23L NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 23 Extracellular (Potential). adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ACAGAATCATCAAGCTCTGTG 0.393 NA 5 99 0 0 0.000602 0 0 HTATSF1 27336 broad.mit.edu 37 X 135592353 135592353 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:135592353C>G uc004ezw.2 + 9 1459 c.1037C>G c.(1036-1038)GCA>GGA p.A346G HTATSF1_uc004ezx.2_Missense_Mutation_p.A346G NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 346 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) ACTGCCCAGGCATGGGATGGG 0.448 NA 77 298 0 0 0.01441 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994659 140994659 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:140994659C>A uc004fbt.2 + 4 1755 c.1469C>A c.(1468-1470)ACT>AAT p.T490N MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 490 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCCTCCACTTTATTGAGT 0.498 NA HNSCC(15;0.026) 52 243 8.28887e-21 1.26567e-20 0.01441 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291003 141291003 + Silent SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:141291003C>G uc004fbu.1 - 3 1119 c.771G>C c.(769-771)GGG>GGC p.G257G NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 257 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAGCATATACCCCTACTGCAT 0.532 NA HNSCC(46;0.14) 61 178 0 0 0.01441 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905670 144905670 + Missense_Mutation SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:144905670C>T uc004fcd.2 + 5 2717 c.1727C>T c.(1726-1728)GCT>GTT p.A576V SLITRK2_uc010nsp.2_Missense_Mutation_p.A576V|SLITRK2_uc010nso.2_Missense_Mutation_p.A576V|SLITRK2_uc011mwq.1_Missense_Mutation_p.A576V|SLITRK2_uc011mwr.1_Missense_Mutation_p.A576V|SLITRK2_uc011mws.1_Missense_Mutation_p.A576V|SLITRK2_uc004fcg.2_Missense_Mutation_p.A576V|SLITRK2_uc011mwt.1_Missense_Mutation_p.A576V NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 576 Extracellular (Potential).|LRRCT 2. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGGGAGGCTATCTGTCCA 0.473 NA 30 50 0 0 0.009535 0 0 CXorf1 9142 broad.mit.edu 37 X 144909297 144909297 + Silent SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:144909297A>G uc004fch.2 + 1 370 c.102A>G c.(100-102)CTA>CTG p.L34L NM_004709 NP_004700 O96002 CX001_HUMAN hypothetical protein LOC9142 34 0 Acute lymphoblastic leukemia(192;6.56e-05) TTAACTCACTAGCATCCCCAC 0.279 NA 31 83 0 0 0.007291 0 0 MTM1 4534 broad.mit.edu 37 X 149828153 149828153 + Missense_Mutation SNP A A T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:149828153A>T uc004fef.3 + 12 1353 c.1277A>T c.(1276-1278)GAT>GTT p.D426V MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.D389V|MTM1_uc011mxz.1_Missense_Mutation_p.D311V|MTM1_uc010nte.2_Missense_Mutation_p.D294V NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 426 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGTCATGGTGATAAAAACCAC 0.333 NA 6 69 0 0 0.001984 0 0 FAM50A 9130 broad.mit.edu 37 X 153678637 153678637 + Silent SNP C C T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:153678637C>T uc004fll.3 + 12 1079 c.981C>T c.(979-981)TAC>TAT p.Y327Y NM_004699 NP_004690 Q14320 FA50A_HUMAN XAP-5 protein 327 spermatogenesis nucleus ovary(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGAACCCTACGACCCTGAAA 0.622 NA 6 69 0 0 0.004482 0 0 RSBN1 54665 broad.mit.edu 37 1 114308968 114308986 + Frame_Shift_Del DEL ATTTCTAGGGATGAAGTAG ATTTCTAGGGATGAAGTAG - TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 ATTTCTAGGGATGAAGTAG ATTTCTAGGGATGAAGTAG - - ATTTCTAGGGATGAAGTAG ATTTCTAGGGATGAAGTAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr1:114308968_114308986delATTTCTAGGGATGAAGTAG uc001edq.2 - 7 2061_2079 c.2025_2043delCTACTTCATCCCTAGAAAT c.(2023-2043)ATCTACTTCATCCCTAGAAATfs p.I675fs RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 675_681 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGAATGACATTTCTAGGGATGAAGTAGATATCATTGT 0.438 NA 37 137 --- --- --- --- NA NA NA NA NA LTBP2 4053 broad.mit.edu 37 14 74989609 74989610 + Frame_Shift_Ins INS - - TT TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr14:74989609_74989610insTT uc001xqa.2 - 16 2929_2930 c.2542_2543insAA c.(2542-2544)TGCfs p.C848fs NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 848 EGF-like 4. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCCAGCAGCGCATCTGTCAATG 0.619 NA 7 19 --- --- --- --- NA NA NA NA NA KRT13 3860 broad.mit.edu 37 17 39658805 39658806 + Frame_Shift_Ins INS - - A rs148296285 byFrequency TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr17:39658805_39658806insA uc002hwu.1 - 6 1127_1128 c.1064_1065insT c.(1063-1065)CGCfs p.R355fs KRT13_uc002hwv.1_Frame_Shift_Ins_p.R355fs|KRT13_uc002hww.2_Frame_Shift_Ins_p.R248fs|KRT13_uc010wfr.1_Frame_Shift_Ins_p.R248fs|KRT13_uc010cxo.2_Frame_Shift_Ins_p.R355fs|KRT13_uc002hwx.1_Frame_Shift_Ins_p.R343fs NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 355 Rod.|Coil 2. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) GCAGGGCATAGCGGCACTCCGT 0.599 NA 11 107 --- --- --- --- NA NA NA NA NA GATAD2A 54815 broad.mit.edu 37 19 19612093 19612093 + Frame_Shift_Del DEL C C - TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr19:19612093delC uc010xqt.1 + 9 1680 c.1368delC c.(1366-1368)AGCfs p.S456fs GATAD2A_uc010xqu.1_Frame_Shift_Del_p.S85fs|GATAD2A_uc010xqv.1_Frame_Shift_Del_p.S476fs|GATAD2A_uc010xqw.1_Frame_Shift_Del_p.S284fs NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 456 GATA-type. DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCACACCAGCCGGCTGAAGG 0.637 NA 7 31 --- --- --- --- NA NA NA NA NA STXBP5L 9515 broad.mit.edu 37 3 120998798 120998798 + Frame_Shift_Del DEL T T - TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chr3:120998798delT uc003eec.3 + 19 2245 c.2105delT c.(2104-2106)ATTfs p.I702fs STXBP5L_uc011bji.1_Frame_Shift_Del_p.I702fs NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 702 WD 10. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AAACAGTTCATTGCAGGTAGG 0.368 NA 15 55 --- --- --- --- NA NA NA NA NA BMX 660 broad.mit.edu 37 X 15544216 15544219 + Splice_Site DEL TGAG TGAG - TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 TGAG TGAG - - TGAG TGAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cb98d825-668f-4b16-a05e-501e1c94f3fe 3f3bd303-83e1-4896-8c92-b287da34fbf8 g.chrX:15544216_15544219delTGAG uc004cww.2 + 9 1072 c.884_splice c.e9+1 p.D295_splice BMX_uc004cwx.3_Splice_Site_p.D295_splice|BMX_uc004cwy.3_Splice_Site_p.D295_splice NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) TGGATGATTATGAGTGAGTATTGA 0.387 NA 10 131 --- --- --- --- NA NA NA NA NA