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 CATSPER4 378807 broad.mit.edu 37 1 26524882 26524882 + Missense_Mutation SNP G A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr1:26524882G>A uc010oez.1 + 6 784 c.784G>A c.(784-786)GGC>AGC p.G262S CATSPER4_uc010oey.1_Missense_Mutation_p.G84S|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 262 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CACCCAGGACGGCTGGGTGGA 0.557 RSU1 6251 broad.mit.edu 37 10 16794981 16794981 + Missense_Mutation SNP T C C rs149666298 byFrequency TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr10:16794981T>C uc001iok.2 - 5 721 c.419A>G c.(418-420)TAT>TGT p.Y140C RSU1_uc001iol.2_Missense_Mutation_p.Y140C|RSU1_uc001iom.2_Missense_Mutation_p.Y87C|RSU1_uc001ion.2_Missense_Mutation_p.Y140C NM_152724 NP_689937 Q15404 RSU1_HUMAN ras suppressor protein 1 isoform 2 140 LRR 5. cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(1;7.54e-08) GTCACTTAGATAGAGTGCACG 0.398 MAP3K8 1326 broad.mit.edu 37 10 30739369 30739369 + Silent SNP A G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr10:30739369A>G uc001ivi.1 + 5 1383 c.687A>G c.(685-687)GAA>GAG p.E229E MAP3K8_uc009xlf.1_Silent_p.E229E|MAP3K8_uc001ivj.1_Silent_p.E229E NM_005204 NP_005195 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 229 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(3)|central_nervous_system(1) 4 Prostate(175;0.151) GAGAATTTGAAATTATTTGGG 0.418 ZNF37A 7587 broad.mit.edu 37 10 38407378 38407378 + Missense_Mutation SNP C A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr10:38407378C>A uc001izk.2 + 8 2118 c.1299C>A c.(1297-1299)CAC>CAA p.H433Q ZNF37A_uc001izl.2_Missense_Mutation_p.H433Q|ZNF37A_uc001izm.2_Missense_Mutation_p.H433Q NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 433 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TAAGAACTCACACAGGTGAGA 0.383 ANK3 288 broad.mit.edu 37 10 61831909 61831909 + Silent SNP G A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr10:61831909G>A uc001jky.2 - 37 8922 c.8730C>T c.(8728-8730)AAC>AAT p.N2910N ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2910 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AGAGAGAGCCGTTTGTTAACA 0.378 OR4C15 81309 broad.mit.edu 37 11 55322828 55322828 + Missense_Mutation SNP A T T TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr11:55322828A>T uc010rig.1 + 1 1046 c.1046A>T c.(1045-1047)CAG>CTG p.Q349L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAAGTAAAACAGGCCATGAGG 0.328 HNSCC(20;0.049) KRTAP5-10 387273 broad.mit.edu 37 11 71277242 71277242 + Nonstop_Mutation SNP A G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr11:71277242A>G uc001oqt.1 + 1 634 c.609A>G c.(607-609)TGA>TGG p.*203W NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 203 keratin filament skin(1) 1 GTAAGATCTGAGGCTCTGAAC 0.323 BIRC2 329 broad.mit.edu 37 11 102220791 102220791 + Missense_Mutation SNP G T T TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr11:102220791G>T uc001pgy.2 + 2 1605 c.206G>T c.(205-207)CGT>CTT p.R69L BIRC2_uc010ruq.1_Missense_Mutation_p.R20L|BIRC2_uc010rur.1_Missense_Mutation_p.R69L NM_001166 NP_001157 Q13490 BIRC2_HUMAN baculoviral IAP repeat-containing protein 2 69 BIR 1. cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) AGTCTTGCTCGTGCTGGTTTT 0.423 KLRC3 3823 broad.mit.edu 37 12 10573038 10573038 + Missense_Mutation SNP T C C TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr12:10573038T>C uc001qyf.2 - 1 157 c.112A>G c.(112-114)ATA>GTA p.I38V KLRC3_uc001qyh.2_Intron|KLRC3_uc001qyi.1_Missense_Mutation_p.I38V|KLRC3_uc010shc.1_Missense_Mutation_p.I38V|KLRC3_uc010shd.1_Missense_Mutation_p.I38V NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 38 Cytoplasmic (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 ACTTGGAATATTTCCTGTTCG 0.378 KLRC3 3823 broad.mit.edu 37 12 10588474 10588474 + Missense_Mutation SNP T C C TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr12:10588474T>C uc001qyh.2 - 1 119 c.112A>G c.(112-114)ATA>GTA p.I38V KLRC2_uc010she.1_Missense_Mutation_p.I38V|KLRC2_uc001qyk.2_Missense_Mutation_p.I38V NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 38 Cytoplasmic (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 ACTTGGAATATTTCCTGTTCG 0.383 TMCC3 57458 broad.mit.edu 37 12 94975965 94975965 + Missense_Mutation SNP A G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr12:94975965A>G uc001tdj.2 - 2 546 c.428T>C c.(427-429)ATC>ACC p.I143T TMCC3_uc001tdi.2_Missense_Mutation_p.I112T NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 143 Potential. integral to membrane ovary(1)|skin(1) 2 ATTCTGCTCGATCTCTCTGAG 0.458 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr12:113515335T>G uc001tuk.1 + 2 702 c.366T>G c.(364-366)GAT>GAG p.D122E NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 CGGCCTACGATATGGACATCT 0.622 SACS 26278 broad.mit.edu 37 13 23928995 23928995 + Missense_Mutation SNP A G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr13:23928995A>G uc001uon.2 - 8 2345 c.1756T>C c.(1756-1758)TAC>CAC p.Y586H SACS_uc001uoo.2_Missense_Mutation_p.Y439H|SACS_uc001uop.1_Missense_Mutation_p.Y373H|SACS_uc001uoq.1_Missense_Mutation_p.Y439H NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 586 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GTTTTTGTGTATTCTAAATTT 0.468 UBE3A 7337 broad.mit.edu 37 15 25616938 25616938 + Missense_Mutation SNP T C C TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr15:25616938T>C uc001zaq.2 - 4 392 c.392A>G c.(391-393)GAG>GGG p.E131G uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.E108G|UBE3A_uc001zas.2_Missense_Mutation_p.E128G|UBE3A_uc001zat.2_Missense_Mutation_p.E108G NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 131 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) ATATACCTTCTCTTCTGTTAA 0.308 Unknown 0 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr16:15457701G>A uc010bvf.1 - 9 812 c.812C>T c.(811-813)GCT>GTT p.A271V RecName: Full=NPIP-like protein 1; AGGGGAGTGAGCAGACACTCG 0.562 MIS12 79003 broad.mit.edu 37 17 5392643 5392643 + Missense_Mutation SNP A G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr17:5392643A>G uc002gcd.2 + 2 790 c.461A>G c.(460-462)CAG>CGG p.Q154R MIS12_uc002gce.2_Missense_Mutation_p.Q154R NM_024039 NP_076944 Q9H081 MIS12_HUMAN MIS12 homolog 154 Potential. cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding 0 AAACTCAAACAGACGTTGACT 0.393 MYH2 4620 broad.mit.edu 37 17 10430104 10430104 + Silent SNP G A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr17:10430104G>A uc010coi.2 - 30 4127 c.3999C>T c.(3997-3999)AAC>AAT p.N1333N uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N1333N|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1333 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 GCGCCAGGGCGTTCTTGGCCT 0.498 MALT1 10892 broad.mit.edu 37 18 56378165 56378165 + Missense_Mutation SNP A G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr18:56378165A>G uc002lhm.1 + 7 1196 c.938A>G c.(937-939)GAG>GGG p.E313G MALT1_uc002lhn.1_Intron NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 313 activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 AGAACAGATGAGGCAGTGGAG 0.388 T BIRC3 MALT ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr19:12187443C>G uc002mtb.2 + 4 1651 c.1508C>G c.(1507-1509)CCT>CGT p.P503R ZNF844_uc010dym.1_Missense_Mutation_p.P346R NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAAACCCTATGAGTGTA 0.413 ZNF28 7576 broad.mit.edu 37 19 53303147 53303147 + Missense_Mutation SNP C T T rs146037495 TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr19:53303147C>T uc002qad.2 - 4 2071 c.1951G>A c.(1951-1953)GTA>ATA p.V651I ZNF28_uc002qac.2_Missense_Mutation_p.V598I|ZNF28_uc010eqe.2_Missense_Mutation_p.V597I NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 651 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGATGGTATACGAGGGATGAC 0.423 GFPT1 2673 broad.mit.edu 37 2 69583664 69583664 + Missense_Mutation SNP T C C TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr2:69583664T>C uc002sfh.2 - 7 748 c.569A>G c.(568-570)AAA>AGA p.K190R GFPT1_uc002sfi.1_Missense_Mutation_p.K32R NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 190 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 ATGAACACTTTTAAACACAAG 0.358 SCRN3 79634 broad.mit.edu 37 2 175287615 175287615 + Missense_Mutation SNP A G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr2:175287615A>G uc002uiq.2 + 6 845 c.757A>G c.(757-759)AAT>GAT p.N253D SCRN3_uc010zen.1_Missense_Mutation_p.N246D|SCRN3_uc010zeo.1_Missense_Mutation_p.N51D|SCRN3_uc002uis.2_5'UTR NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 253 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) TTCTCTAGGAAATATAACTTT 0.318 FRG1B 284802 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A T T TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr20:29625955A>T uc010ztl.1 + 2 141 c.109A>T c.(109-111)AGA>TGA p.R37* FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 AATTGGACCAAGAGAACAATG 0.338 QRICH1 54870 broad.mit.edu 37 3 49094721 49094721 + Silent SNP A G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr3:49094721A>G uc010hkq.2 - 4 1208 c.912T>C c.(910-912)CCT>CCC p.P304P QRICH1_uc003cvu.2_Silent_p.P304P|QRICH1_uc003cvv.2_Silent_p.P304P NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 304 Gln-rich. ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TTTCTCCTGTAGGGCTAGTAA 0.557 N4BP2 55728 broad.mit.edu 37 4 40122570 40122570 + Nonsense_Mutation SNP G T T TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr4:40122570G>T uc003guy.3 + 9 3177 c.2839G>T c.(2839-2841)GGA>TGA p.G947* N4BP2_uc010ifq.2_Nonsense_Mutation_p.G867*|N4BP2_uc010ifr.2_Nonsense_Mutation_p.G867* NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 947 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CTCCAATCTAGGAAGTTCTGA 0.408 LRRC66 339977 broad.mit.edu 37 4 52883712 52883712 + Missense_Mutation SNP T C C TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr4:52883712T>C uc003gzi.2 - 1 81 c.68A>G c.(67-69)AAT>AGT p.N23S NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 23 Helical; (Potential). integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TCTTGATGCATTTGTCATTAT 0.299 ENOPH1 58478 broad.mit.edu 37 4 83372300 83372300 + Silent SNP G A A rs143039236 by1000genomes TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr4:83372300G>A uc003hmv.2 + 3 548 c.291G>A c.(289-291)GTG>GTA p.V97V ENOPH1_uc003hmw.2_Silent_p.V9V|ENOPH1_uc003hmx.2_Intron NM_021204 NP_067027 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 97 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity 0 TAGATAATGTGTGCTGGCAGA 0.562 ABCG2 9429 broad.mit.edu 37 4 89053011 89053011 + Missense_Mutation SNP T C C TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr4:89053011T>C uc003hrg.2 - 4 815 c.322A>G c.(322-324)ATA>GTA p.I108V ABCG2_uc003hrh.2_Missense_Mutation_p.I108V|ABCG2_uc003hrf.2_5'UTR|ABCG2_uc003hri.1_Missense_Mutation_p.I108V|ABCG2_uc003hrj.1_Missense_Mutation_p.I108V|ABCG2_uc003hrk.1_Missense_Mutation_p.I108V NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 108 ABC transporter.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) GCTCCATTTATCAGAACATCT 0.378 PCDHA13 56136 broad.mit.edu 37 5 140263677 140263677 + Silent SNP G A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr5:140263677G>A uc003lif.2 + 1 1824 c.1824G>A c.(1822-1824)TCG>TCA p.S608S 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_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S608S|PCDHA13_uc003lid.2_Silent_p.S608S NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 608 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGCTTTCGTATGAATTGC 0.682 PCDHB14 56122 broad.mit.edu 37 5 140604583 140604583 + Silent SNP C A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr5:140604583C>A uc003ljb.2 + 1 1506 c.1506C>A c.(1504-1506)TCC>TCA p.S502S PCDHB14_uc011dal.1_Silent_p.S349S NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 502 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTCGCCTCCTTGGTCTCCA 0.647 C2 717 broad.mit.edu 37 6 31901955 31901955 + Missense_Mutation SNP G A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr6:31901955G>A uc003nyf.2 + 6 992 c.728G>A c.(727-729)CGT>CAT p.R243H C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.R243H|C2_uc010jtk.2_Missense_Mutation_p.R111H|C2_uc011doq.1_Missense_Mutation_p.R214H|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank NM_000063 NP_000054 P06681 CO2_HUMAN complement component 2 isoform 1 preproprotein 243 complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) AGCCTGGGCCGTAAAATCCAA 0.547 OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T - - TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr7:44684936delT uc003tln.2 + 3 342 c.233delT c.(232-234)ATTfs p.I78fs OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A G G rs147859349 TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr7:72398976A>G uc003twk.2 + 4 1076 c.1076A>G c.(1075-1077)AAT>AGT p.N359S POM121_uc003twj.2_Missense_Mutation_p.N94S|POM121_uc010lam.1_Missense_Mutation_p.N94S NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 359 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468 ZFAT 57623 broad.mit.edu 37 8 135533235 135533235 + Missense_Mutation SNP T G G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr8:135533235T>G uc003yup.2 - 13 3300 c.3125A>C c.(3124-3126)AAG>ACG p.K1042T ZFAT_uc011ljj.1_Missense_Mutation_p.K161T|ZFAT_uc003yun.2_Missense_Mutation_p.K1030T|ZFAT_uc003yuo.2_Missense_Mutation_p.K1030T|ZFAT_uc010meh.2_Missense_Mutation_p.K1030T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.K1030T|ZFAT_uc010mej.2_Missense_Mutation_p.K980T NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 1042 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AACAGGACACTTCAAACCACC 0.408 LOC442421 442421 broad.mit.edu 37 9 66499821 66499822 + Frame_Shift_Del DEL TA - - TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr9:66499821_66499822delTA uc004aee.1 + 1 631_632 c.631_632delTA c.(631-633)TATfs p.Y211fs LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 GACCACCTTCTATACAGTTATG 0.604 IARS 3376 broad.mit.edu 37 9 95004467 95004467 + Missense_Mutation SNP G C C TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chr9:95004467G>C uc004art.1 - 29 3403 c.3146C>G c.(3145-3147)TCG>TGG p.S1049W IARS_uc004ars.1_Missense_Mutation_p.S894W|IARS_uc004aru.3_Missense_Mutation_p.S1049W|IARS_uc010mqr.2_Missense_Mutation_p.S939W|IARS_uc010mqt.2_Missense_Mutation_p.S272W NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 1049 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) GACTTTATCCGATGGAGAAAC 0.388 DCAF12L2 340578 broad.mit.edu 37 X 125298905 125298905 + Missense_Mutation SNP G A A TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 5af251d5-e76b-480c-8142-6d6fbfce0b2a c6f91567-fa3d-4920-80e6-bc04a5c0c9b1 g.chrX:125298905G>A uc004euk.1 - 1 1030 c.1003C>T c.(1003-1005)CGC>TGC p.R335C NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 335 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TGGCGCTGGCGCGGATCCAGG 0.627