Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PCSK1 5122 broad.mit.edu 37 5 95735751 95735751 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr5:95735751C>T uc003kls.2 - 9 1575 c.1336G>A c.(1336-1338)Gcc>Acc p.A446T PCSK1_uc010jbi.2_Missense_Mutation_p.A136T|PCSK1_uc021ybq.1_Missense_Mutation_p.A399T NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 446 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGAGCTTTGGCATTTAGCAAG 0.493000 47 49 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173292654 173292654 + Silent SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr2:173292654C>T uc002uhp.1 + 0 341 c.138C>T c.(136-138)ttC>ttT p.F46F ITGA6_uc010fqk.1_Intron|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Silent_p.F46F NM_001079818 NP_001073286 P23229 ITA6_HUMAN Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA. 46 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TCTTCGGCTTCTCGCTGGCCA 0.672000 19 39 0 0 1 0 0 GALNT4 8693 broad.mit.edu 37 12 89864264 89864264 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr12:89864264G>A uc001tbc.3 - 6 1051 c.684C>T c.(682-684)agC>agT p.S228S GALNT4_uc001tba.3_Silent_p.S186S|GALNT4_uc001tbb.3_Silent_p.S98S|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Intron NM_172240 NP_001186706 Q8N4A0 GALT4_HUMAN Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA. 0 Catalytic subdomain A. carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1) 14 TAACTCCACCGCTGTGAACTG 0.388000 3 68 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30510706 30510706 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr16:30510706C>T uc002dyi.4 + 16 2217 c.2041C>T c.(2041-2043)Cgg>Tgg p.R681W ITGAL_uc002dyj.4_Missense_Mutation_p.R598W|ITGAL_uc010vev.2_Missense_Mutation_p.R77W NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 681 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity p.R681Q(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GGATGGCCACCGGACCAGAAG 0.537000 57 185 0 0 1 0 0 GPR135 64582 broad.mit.edu 37 14 59930877 59930877 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr14:59930877G>A uc010apj.3 - 0 1183 c.1068C>T c.(1066-1068)gcC>gcT p.A356A GPR135_uc001xed.2_Non-coding_Transcript NM_022571 NP_072093 Q8IZ08 GP135_HUMAN Homo sapiens G protein-coupled receptor 135 (GPR135), mRNA. 356 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) GGGCCTGCCGGGCGGCGGCCA 0.667000 5 16 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769205 37769205 + Silent SNP G G A rs148494870 by1000genomes TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr22:37769205G>A uc003asq.4 - 2 3156 c.2370C>T c.(2368-2370)caC>caT p.H790H ELFN2_uc021wph.1_Silent_p.H790H NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 790 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TGCGCAGGGCGTGACCGGCGG 0.627000 44 82 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26695087 26695087 + Missense_Mutation SNP A A C TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr22:26695087A>C uc003acb.3 + 4 1496 c.1300A>C c.(1300-1302)Atc>Ctc p.I434L SEZ6L_uc003acd.3_Missense_Mutation_p.I434L|SEZ6L_uc011akd.2_Missense_Mutation_p.I434L|SEZ6L_uc003ace.3_Missense_Mutation_p.I434L|SEZ6L_uc011akc.2_Missense_Mutation_p.I434L|SEZ6L_uc003acc.3_Missense_Mutation_p.I434L|SEZ6L_uc003acf.1_Missense_Mutation_p.I207L|SEZ6L_uc010gvc.1_Missense_Mutation_p.I207L NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 434 Sushi 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GCTGACATGCATCAATGCCTC 0.597000 7 25 0 0 1 0 0 C3orf43 255798 broad.mit.edu 37 3 196235046 196235046 + Silent SNP T T C TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr3:196235046T>C uc003fws.3 - 2 514 c.357A>G c.(355-357)agA>agG p.R119R C3orf43_uc003fwr.3_Silent_p.R111R NM_001077657 NP_001071125 Q147U7 CC043_HUMAN Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA. 119 integral to membrane NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) CCCATACAACTCTAACGCGCT 0.483000 25 73 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342768 40342768 + Splice_Site SNP G G T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr2:40342768G>T uc002rrx.3 - 10 2570 c.2546_splice c.e10-1 p.D849_splice LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.D844_splice|SLC8A1_uc002rsb.2_Splice_Site_p.D841_splice|SLC8A1_uc002rrz.3_Splice_Site_p.D836_splice|SLC8A1_uc002rsa.3_Splice_Site_p.D813_splice|SLC8A1_uc002rsd.4_Splice_Site_p.D813_splice NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 849 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGGCAAATGTGTCTGCAGAGG 0.507000 16 49 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74274412 74274412 + Missense_Mutation SNP A A T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr4:74274412A>T uc003hgs.4 + 3 445 c.372A>T c.(370-372)gaA>gaT p.E124D ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.E14D NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 124 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AGAGAAATGAATGCTTCTTGC 0.433000 14 35 0 0 1 0 0 MEF2B 100271849 broad.mit.edu 37 19 19258532 19258532 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr19:19258532G>A uc002nll.2 - 3 482 c.368C>T c.(367-369)cCg>cTg p.P123L MEF2B_uc010xqo.1_Missense_Mutation_p.P123L|MEF2B_uc002nlp.2_Missense_Mutation_p.P123L|MEF2B_uc010xqp.1_Missense_Mutation_p.P123L|MEF2B_uc002nlo.2_Missense_Mutation_p.P123L|MEF2B_uc002nlk.2_Missense_Mutation_p.P126L NM_001145785 NP_001139257 Homo sapiens myocyte enhancer factor 2B (MEF2B), mRNA. breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) GGGCAAGGCCGGATCACCCCC 0.627000 3 114 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128332410 128332410 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr11:128332410C>T uc001qej.2 - 9 1389 c.1304G>A c.(1303-1305)cGt>cAt p.R435H ETS1_uc010sbs.1_Missense_Mutation_p.R391H|ETS1_uc009zch.2_Missense_Mutation_p.R175H|ETS1_uc009zcg.2_3'UTR NM_001143820 NP_001137292 P14921 ETS1_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA. 391 PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GCGTAGGCCACGGCTCAGTTT 0.458000 21 42 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67237636 67237636 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr16:67237636G>A uc002esa.3 + 19 2221 c.2178G>A c.(2176-2178)ctG>ctA p.L726L ELMO3_uc002esb.3_Silent_p.L709L|ELMO3_uc002esc.3_Silent_p.L560L|MIR328_uc010vjf.1_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA. 673 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) AGACACGGCTGGACCTGGAGC 0.672000 4 139 0 0 1 0 0 CAPS 828 broad.mit.edu 37 19 5915243 5915243 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr19:5915243G>A uc002mdt.3 + 4 630 c.480G>A c.(478-480)gcG>gcA p.A160A CAPS_uc002mdu.3_Silent_p.A133A NM_004058 NP_004049 Q13938 CAYP1_HUMAN Homo sapiens calcyphosine (CAPS), transcript variant 1, mRNA. 160 EF-hand 4. intracellular signal transduction cytoplasm calcium ion binding cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 4 TCACACTGGCGGAATTCCAGG 0.667000 18 37 0 0 1 0 0 STOML2 30968 broad.mit.edu 37 9 35102741 35102741 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr9:35102741G>A uc003zwi.3 - 1 188 c.125C>T c.(124-126)cCg>cTg p.P42L STOML2_uc011lou.2_Missense_Mutation_p.P42L NM_013442 NP_038470 Q9UJZ1 STML2_HUMAN Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA. 42 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTCCTGCTGCGGCACGAACAG 0.642000 52 111 0 0 1 0 0 TMEM50B 757 broad.mit.edu 37 21 34839360 34839360 + RNA SNP C C A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr21:34839360C>A uc002yrs.2 - 2 c.382G>T TMEM50B_uc010gmb.2_Non-coding_Transcript NM_006134 P56557 TM50B_HUMAN Homo sapiens transmembrane protein 50B (TMEM50B), transcript variant 1, mRNA. endoplasmic reticulum|integral to membrane|plasma membrane breast(1)|kidney(1)|ovary(1)|skin(1) 4 GTGTGAAAGGCATGGTTCAAC 0.368000 3 101 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128494189 128494189 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr7:128494189G>A uc003vnz.4 + 39 6855 c.6646G>A c.(6646-6648)Gac>Aac p.D2216N FLNC_uc003voa.4_Missense_Mutation_p.D2183N NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2216 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGTCGGCGGGGACCCCTTCCC 0.697000 30 38 0 0 1 0 0 GPT 2875 broad.mit.edu 37 8 145730778 145730778 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr8:145730778G>A uc003zdh.4 + 4 868 c.645G>A c.(643-645)gcG>gcA p.A215A GPT_uc011llj.1_Silent_p.A215A NM_005309 NP_005300 P24298 ALAT1_HUMAN Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA. 215 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GTGCCTGGGCGCTGGACGTGG 0.672000 3 39 0 0 1 0 0 SLC25A33 84275 broad.mit.edu 37 1 9642501 9642501 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr1:9642501C>T uc001apw.3 + 6 1131 c.908C>T c.(907-909)gCc>gTc p.A303V NM_032315 NP_115691 Q9BSK2 S2533_HUMAN Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA. 303 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CCAAATACTGCCATTGTGTTG 0.453000 7 20 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4830986 4830986 + Silent SNP G G T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr7:4830986G>T uc003sne.3 + 16 2479 c.2394G>T c.(2392-2394)gtG>gtT p.V798V AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Silent_p.V275V|MIR4656_uc021zzb.1_5'Flank NM_014855 NP_055670 O43299 K0415_HUMAN Homo sapiens KIAA0415 (KIAA0415), mRNA. 798 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding GCCGGCTGGTGGAGAGGGAGG 0.667000 18 28 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380580 147380580 + Silent SNP C C A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr1:147380580C>A uc001epu.2 + 1 551 c.498C>A c.(496-498)atC>atA p.I166I GJA8_uc021ovm.1_Silent_p.I166I NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 166 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TGGGCTTCATCGTGGGCCACT 0.607000 101 144 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116045883 116045883 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr10:116045883G>A uc001lbl.1 + 10 1504 c.1183G>A c.(1183-1185)Gtg>Atg p.V395M VWA2_uc001lbk.1_Missense_Mutation_p.V395M|VWA2_uc009xyf.1_Missense_Mutation_p.V91M NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 395 VWFA 2. extracellular region p.A394V(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GCTGGTGGCGGTGCCTGTGGG 0.662000 4 177 0 0 1 0 0 EFNB1 1947 broad.mit.edu 37 X 68060182 68060182 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chrX:68060182G>A uc004dxe.2 + 4 1506 c.726G>A c.(724-726)gcG>gcA p.A242A EFNB1_uc004dxd.4_Silent_p.A242A NM_004429 NP_004420 P98172 EFNB1_HUMAN Homo sapiens ephrin-B1 (EFNB1), mRNA. 242 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding p.A242T(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 CATTGTTCGCGGCTGTCGGTG 0.587000 9 36 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88679156 88679156 + Missense_Mutation SNP T T G TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr15:88679156T>G uc002bme.2 - 8 1187 c.881A>C c.(880-882)aAt>aCt p.N294T NTRK3_uc002bmh.2_Missense_Mutation_p.N294T|NTRK3_uc002bmf.2_Missense_Mutation_p.N294T|NTRK3_uc021sua.1_Missense_Mutation_p.N294T|NTRK3_uc010upl.1_Missense_Mutation_p.N196T|NTRK3_uc010bnh.1_Missense_Mutation_p.N294T|NTRK3_uc002bmg.3_Missense_Mutation_p.N294T NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 294 Ig-like C2-type 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AACACTGGCATTGCTCATGCC 0.542000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 33 63 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57553705 57553705 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr12:57553705G>A uc001snd.3 + 11 2362 c.1896G>A c.(1894-1896)ctG>ctA p.L632L NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 632 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGGCCAGGCTGGAGAAAGCTG 0.567000 3 130 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123185435 123185435 + Silent SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr4:123185435C>T uc003ieh.3 + 42 7215 c.7170C>T c.(7168-7170)ccC>ccT p.P2390P KIAA1109_uc003iel.1_Silent_p.P325P|KIAA1109_uc003iek.2_Silent_p.P1009P NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 2390 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CAACAATACCCTCAGCCTCAG 0.398000 27 64 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61941834 61941834 + Silent SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr20:61941834C>T uc011aau.2 + 10 1465 c.1365C>T c.(1363-1365)ggC>ggT p.G455G COL20A1_uc011aav.2_Silent_p.G276G NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 455 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GCGGGGTTGGCGAAGGCCTGC 0.687000 3 12 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779208 31779208 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr6:31779208G>A uc003nxh.3 - 1 725 c.542C>T c.(541-543)gCt>gTt p.A181V HSPA1L_uc010jte.3_Missense_Mutation_p.A181V|HSPA1L_uc021yuz.1_Missense_Mutation_p.A181V NM_005527 NP_005518 P34931 HS71L_HUMAN Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA. 181 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GGCAATGGCAGCAGCCGTGGG 0.458000 3 72 0 0 1 0 0 abParts 0 broad.mit.edu 37 22 22453352 22453352 + RNA SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr22:22453352C>T uc021wml.1 + 6 c.473C>T Parts of antibodies, mostly variable regions. CAGGAGCCATCGTTCTCAGTG 0.522000 22 46 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122359381 122359381 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr12:122359381C>T uc009zxk.3 + 1 329 c.170C>T c.(169-171)aCg>aTg p.T57M WDR66_uc021rfh.1_Missense_Mutation_p.T57M NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA. 57 Glu-rich. calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) gagaggaaaacgggcgaggag 0.468000 7 17 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47532397 47532397 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr21:47532397C>T uc002zia.1 + 2 702 c.620C>T c.(619-621)aCg>aTg p.T207M COL6A2_uc002zhz.1_Missense_Mutation_p.T207M|COL6A2_uc002zhy.1_Missense_Mutation_p.T207M NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 207 Nonhelical region.|VWFA 1. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ATCGCCAGCACGCCGCACGAG 0.662000 13 26 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23646583 23646583 + Silent SNP G G T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr16:23646583G>T uc002dlx.1 - 3 1484 c.1284C>A c.(1282-1284)gtC>gtA p.V428V NM_024675 NP_078951 Q86YC2 PALB2_HUMAN Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA. 428 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) GACTCTGAATGACAGCCTCCA 0.393000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 3 85 0 0 1 0 0 ZNF414 84330 broad.mit.edu 37 19 8576745 8576745 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr19:8576745G>A uc002mke.4 - 4 748 c.630C>T c.(628-630)ccC>ccT p.P210P ZNF414_uc010dwf.3_Silent_p.P199P|ZNF414_uc002mkf.3_Silent_p.P210P NM_001146175 NP_001139647 Q96IQ9 ZN414_HUMAN Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA. 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 CCAGGGCCGGGGGTGGCGGCG 0.726000 3 5 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52360756 52360756 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr5:52360756G>A uc003joy.3 + 13 1760 c.1617G>A c.(1615-1617)caG>caA p.Q539Q ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.Q463Q|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 539 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity p.Q539Q(3)|p.G538C(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TTTTGGGTCAGCACCAATTTC 0.428000 3 104 0 0 1 0 0 KCNK12 56660 broad.mit.edu 37 2 47797086 47797086 + Frame_Shift_Del DEL T T - TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr2:47797086delT uc002rwb.3 - 0 385 c.385delA c.(385-387)accfs p.T129fs MSH2_uc002rvz.3_Intron NM_022055 NP_071338 Q9HB15 KCNKC_HUMAN Homo sapiens potassium channel, subfamily K, member 12 (KCNK12), mRNA. 129 integral to membrane potassium channel activity|voltage-gated ion channel activity p.0?(2)|p.?(1) NS(1)|endometrium(1)|lung(3)|ovary(1) 6 all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCACCTATGGTTGACACCACG 0.721 2 4 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137727661 137727661 + Frame_Shift_Del DEL G G - TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr5:137727661delG uc003lcy.1 + 7 2540 c.2340delG c.(2338-2340)ccgfs p.P780fs KDM3B_uc010jew.1_Frame_Shift_Del_p.P436fs|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 780 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TGTCCTCCCCGGCAGATTTTT 0.532 193 270 --- --- --- ---