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 KIF17 57576 broad.mit.edu 37 1 21009246 21009246 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:21009246G>A uc001bdr.3 - 11 2481 c.2363C>T c.(2362-2364)TCG>TTG p.S788L KIF17_uc001bdp.3_Missense_Mutation_p.S66L|KIF17_uc001bdq.3_Missense_Mutation_p.S66L|KIF17_uc009vpx.2_Missense_Mutation_p.S158L|KIF17_uc001bds.3_Missense_Mutation_p.S788L NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 788 Potential. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GTCCTCATCCGAGTTCTGCAG 0.607 DNALI1 7802 broad.mit.edu 37 1 38025070 38025070 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:38025070C>T uc001cbj.2 + 3 446 c.436C>T c.(436-438)CGC>TGC p.R146C DNALI1_uc010oie.1_Intron NM_003462 NP_003453 O14645 IDLC_HUMAN dynein, axonemal, light intermediate chain 1 124 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTGCCCTGTCCGCAGGGAACT 0.587 TIE1 7075 broad.mit.edu 37 1 43784978 43784978 + Missense_Mutation SNP G T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:43784978G>T uc001ciu.2 + 18 3074 c.2995G>T c.(2995-2997)GGC>TGC p.G999C TIE1_uc010oke.1_Missense_Mutation_p.G954C|TIE1_uc009vwq.2_Missense_Mutation_p.G955C|TIE1_uc010okg.1_Missense_Mutation_p.G644C NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 999 Cytoplasmic (Potential).|Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCAGACTTCGGCCTTTCTCG 0.577 FLG 2312 broad.mit.edu 37 1 152284263 152284263 + Silent SNP G A A rs146128865 byFrequency TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:152284263G>A uc001ezu.1 - 3 3135 c.3099C>T c.(3097-3099)CAC>CAT p.H1033H uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1033 Filaggrin 6.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCGGGATCCGTGTCTTTCTC 0.567 Ichthyosis LCE3A 353142 broad.mit.edu 37 1 152595450 152595450 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:152595450C>T uc010pdt.1 - 1 130 c.130G>A c.(130-132)GAG>AAG p.E44K NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 44 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCTGCGCTCGGAGCTGGGC 0.657 HMCN1 83872 broad.mit.edu 37 1 186045741 186045741 + Silent SNP A G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:186045741A>G uc001grq.1 + 54 8701 c.8472A>G c.(8470-8472)GTA>GTG p.V2824V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2824 Ig-like C2-type 26. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTGATAAAGTATTGATTTTGC 0.428 LEFTY2 7044 broad.mit.edu 37 1 226127598 226127598 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:226127598G>A uc001hpt.1 - 2 435 c.355C>T c.(355-357)CGG>TGG p.R119W LEFTY2_uc010pvk.1_Intron|LEFTY2_uc009xek.1_Intron NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 119 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) TGGAAGAGCCGCAGCACGGCC 0.741 OR2T1 26696 broad.mit.edu 37 1 248569915 248569915 + Missense_Mutation SNP T C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:248569915T>C uc010pzm.1 + 1 620 c.620T>C c.(619-621)TTC>TCC p.F207S NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 207 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(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) TTGGATGGCTTCCTCCTAACC 0.537 OR51A7 119687 broad.mit.edu 37 11 4929295 4929295 + Missense_Mutation SNP G T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:4929295G>T uc010qyq.1 + 1 696 c.696G>T c.(694-696)GAG>GAT p.E232D NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 232 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) CTTTGGCAGAGAGGCTTAAGG 0.478 OR52B6 340980 broad.mit.edu 37 11 5602633 5602633 + Missense_Mutation SNP T A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:5602633T>A uc010qzi.1 + 1 527 c.527T>A c.(526-528)TTT>TAT p.F176Y HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 176 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCATTATGTTTCCATCCATC 0.498 PIK3C2A 5286 broad.mit.edu 37 11 17111388 17111388 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:17111388C>T uc001mmq.3 - 32 5024 c.4958G>A c.(4957-4959)CGG>CAG p.R1653Q PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1653 C2. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) AAAATTCTCCCGCAGAGATTC 0.413 MS4A14 84689 broad.mit.edu 37 11 60184370 60184370 + Silent SNP T C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:60184370T>C uc001npj.2 + 5 2494 c.1929T>C c.(1927-1929)GAT>GAC p.D643D MS4A14_uc001npi.2_Silent_p.D531D|MS4A14_uc001npn.2_Silent_p.D381D|MS4A14_uc001npk.2_Silent_p.D626D|MS4A14_uc001npl.2_Silent_p.D381D|MS4A14_uc001npm.2_Silent_p.D381D NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 643 Gln-rich. integral to membrane receptor activity breast(1) 1 TATGCCAAGATTCAGAATCCC 0.473 RBM4 5936 broad.mit.edu 37 11 66411465 66411465 + Silent SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:66411465C>T uc009yrj.2 + 3 1445 c.957C>T c.(955-957)CCC>CCT p.P319P RBM4_uc009yrk.2_Silent_p.P294P|RBM4_uc001oiw.1_Silent_p.P319P|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.P319P|RBM4_uc001oiz.1_Silent_p.P319P NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 319 Interaction with TNPO3. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) CCCCAGTCCCCACTGTTGGAG 0.493 POU2AF1 5450 broad.mit.edu 37 11 111229596 111229596 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:111229596C>T uc001plg.3 - 2 319 c.64G>A c.(64-66)GTC>ATC p.V22I NM_006235 NP_006226 Q16633 OBF1_HUMAN POU class 2 associating factor 1 22 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity kidney(1) 1 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) TTCACACGGACGCCCTGGTAT 0.627 T BCL6 NHL CD3E 916 broad.mit.edu 37 11 118183512 118183512 + Missense_Mutation SNP T C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:118183512T>C uc001psq.3 + 6 539 c.283T>C c.(283-285)TAT>CAT p.Y95H CD3E_uc010rya.1_Missense_Mutation_p.Y95H NM_000733 NP_000724 P07766 CD3E_HUMAN CD3E antigen, epsilon polypeptide precursor 95 Extracellular (Potential).|Ig-like. G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway external side of plasma membrane|integral to plasma membrane protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity ovary(2) 2 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) GCAAAGTGGTTATTATGTCTG 0.443 MFRP 83552 broad.mit.edu 37 11 119215663 119215663 + Silent SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:119215663G>A uc001pwj.2 - 6 853 c.693C>T c.(691-693)CTC>CTT p.L231L MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.L231L NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) AGACCACCAGGAGGTGGCTGG 0.617 OR10G7 390265 broad.mit.edu 37 11 123909127 123909127 + Silent SNP G A A rs147011748 byFrequency TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:123909127G>A uc001pzq.1 - 1 582 c.582C>T c.(580-582)AAC>AAT p.N194N NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGACCATCTCGTTGGCTGAGG 0.537 ACSM4 341392 broad.mit.edu 37 12 7456944 7456944 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:7456944G>A uc001qsx.1 + 1 17 c.17G>A c.(16-18)CGC>CAC p.R6H NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 6 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 ATTTTTTTCCGCTACCAGACA 0.468 SLCO1B3 28234 broad.mit.edu 37 12 21036410 21036410 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:21036410C>T uc001rek.2 + 12 1682 c.1556C>T c.(1555-1557)GCA>GTA p.A519V SLCO1B3_uc001rel.2_Missense_Mutation_p.A519V|SLCO1B3_uc010sil.1_Missense_Mutation_p.A519V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.A344V NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 519 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AATTACTCAGCACACTTGGGT 0.338 ABCC9 10060 broad.mit.edu 37 12 21997448 21997448 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:21997448C>T uc001rfi.1 - 26 3304 c.3284G>A c.(3283-3285)CGC>CAC p.R1095H ABCC9_uc001rfh.2_Missense_Mutation_p.R1095H|ABCC9_uc001rfj.1_Missense_Mutation_p.R1059H NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1095 ABC transmembrane type-1 2.|Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGCTGAAAAGCGATTGAGAAT 0.353 STK38L 23012 broad.mit.edu 37 12 27467499 27467499 + Missense_Mutation SNP A G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:27467499A>G uc001rhr.2 + 7 779 c.580A>G c.(580-582)ATT>GTT p.I194V STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.I101V|STK38L_uc010sjn.1_5'UTR NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 194 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1) 5 Colorectal(261;0.0847) ACAGTTCTACATTTCAGAGAC 0.378 CACNB3 784 broad.mit.edu 37 12 49218455 49218455 + Silent SNP A G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:49218455A>G uc001rsl.1 + 5 612 c.411A>G c.(409-411)AGA>AGG p.R137R CACNB3_uc010slx.1_Silent_p.R124R|CACNB3_uc010sly.1_Silent_p.R124R|CACNB3_uc010slz.1_Silent_p.R136R|CACNB3_uc001rsk.1_5'UTR NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 137 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) TTCTCAGGAGATCTGGGAACC 0.483 RNF17 56163 broad.mit.edu 37 13 25444863 25444863 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr13:25444863C>T uc001upr.2 + 32 4474 c.4433C>T c.(4432-4434)ACG>ATG p.T1478M RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.T1474M|RNF17_uc001ups.2_Missense_Mutation_p.T1417M|RNF17_uc010aac.2_Missense_Mutation_p.T670M|RNF17_uc010aad.2_Missense_Mutation_p.T488M NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1478 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCTCCTCTGACGGATTTTAGA 0.423 PCDH20 64881 broad.mit.edu 37 13 61985634 61985634 + Silent SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr13:61985634C>T uc001vid.3 - 2 2962 c.2598G>A c.(2596-2598)GAG>GAA p.E866E PCDH20_uc010thj.1_Silent_p.E866E NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 839 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GTTCTTTCTCCTCTATATTAA 0.393 OR4K17 390436 broad.mit.edu 37 14 20586156 20586156 + Silent SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:20586156G>A uc001vwo.1 + 1 591 c.591G>A c.(589-591)TTG>TTA p.L197L NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTGTGAACTTGCCCTTTTGTG 0.428 CLEC14A 161198 broad.mit.edu 37 14 38724256 38724256 + Missense_Mutation SNP G T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:38724256G>T uc001wum.1 - 1 1319 c.972C>A c.(970-972)GAC>GAA p.D324E NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 324 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCAGCTTCTCGTCGACCCTGA 0.602 PLEKHG3 26030 broad.mit.edu 37 14 65208951 65208951 + Missense_Mutation SNP C G G rs150120531 byFrequency TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:65208951C>G uc001xho.1 + 16 2985 c.2716C>G c.(2716-2718)CGC>GGC p.R906G PLEKHG3_uc001xhn.1_Missense_Mutation_p.R850G|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R1027G|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R448G|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R411G NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 906 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) ACTGCACCCCCGCATCGTGCA 0.662 AK7 122481 broad.mit.edu 37 14 96864516 96864516 + Missense_Mutation SNP A T T rs17853407 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:96864516A>T uc001yfn.2 + 2 254 c.210A>T c.(208-210)AAA>AAT p.K70N AK7_uc001yfm.1_Missense_Mutation_p.K70N NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 70 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CCTCAACCAAAGTGAAGGAAG 0.507 JAG2 3714 broad.mit.edu 37 14 105609273 105609273 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:105609273C>T uc001yqg.2 - 26 3880 c.3476G>A c.(3475-3477)CGC>CAC p.R1159H JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.R563H|JAG2_uc001yqh.2_Missense_Mutation_p.R1121H NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 1159 Cytoplasmic (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) gtccgccctgcgcggcggcgg 0.463 PIF1 80119 broad.mit.edu 37 15 65110455 65110455 + Splice_Site DEL C - - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr15:65110455delC uc002ant.2 - 10 1594 c.1528_splice c.e10+1 p.G510_splice PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice NM_025049 NP_079325 Q9H611 PIF1_HUMAN DNA helicase homolog PIF1 negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding 0 CCAACACTTACCTCTCCCTTC 0.582 LRRK1 79705 broad.mit.edu 37 15 101595366 101595366 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr15:101595366G>A uc002bwr.2 + 27 4589 c.4270G>A c.(4270-4272)GTG>ATG p.V1424M LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1424 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGCCCTAGGCGTGGAGGGCAC 0.567 APOB48R 55911 broad.mit.edu 37 16 28507939 28507939 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr16:28507939C>T uc002dqb.1 + 3 1560 c.1550C>T c.(1549-1551)GCC>GTC p.A517V uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.A55V NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 517 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 ACTCCAGAGGCCAGGCCTGAG 0.652 SLC5A2 6524 broad.mit.edu 37 16 31500623 31500623 + Silent SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr16:31500623G>A uc002ecf.3 + 12 1648 c.1629G>A c.(1627-1629)ACG>ACA p.T543T SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 543 Helical; (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 TCACCCTCACGGTCTCCCTGT 0.637 NOL3 8996 broad.mit.edu 37 16 67208819 67208819 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr16:67208819C>T uc010vjd.1 + 3 774 c.767C>T c.(766-768)CCG>CTG p.P256L NOL3_uc010vjc.1_Silent_p.P259P|NOL3_uc002erp.2_Silent_p.P197P O60936 NOL3_HUMAN RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein; Short=Myp; AltName: Full=Nucleolar protein of 30 kDa; Short=Nop30; 194 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) agcccgagcccgacttcgaGG 0.323 FOXL1 2300 broad.mit.edu 37 16 86613224 86613224 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr16:86613224G>A uc002fjr.2 + 1 1110 c.895G>A c.(895-897)GCC>ACC p.A299T NM_005250 NP_005241 Q12952 FOXL1_HUMAN forkhead box L1 299 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 CTCGCTCCTGGCCGCCTCCTC 0.672 TRPV1 7442 broad.mit.edu 37 17 3493599 3493599 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr17:3493599G>A uc010vrr.1 - 4 1219 c.692C>T c.(691-693)GCG>GTG p.A231V TRPV1_uc010vro.1_Missense_Mutation_p.A231V|TRPV1_uc010vrp.1_Missense_Mutation_p.A231V|TRPV1_uc010vrq.1_Missense_Mutation_p.A229V|TRPV1_uc010vrs.1_Missense_Mutation_p.A231V|TRPV1_uc010vrt.1_Missense_Mutation_p.A231V|TRPV1_uc010vru.1_Missense_Mutation_p.A231V NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 231 ANK 3.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CCCATGGGCCGCAGCCTGGAC 0.572 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr17:39274424G>C uc002hvz.2 - 1 183 c.144C>G c.(142-144)AGC>AGG p.S48R NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5. Missing (in allele KAP4.14). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672 POTEC 388468 broad.mit.edu 37 18 14542809 14542809 + Missense_Mutation SNP C T T rs113041483 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr18:14542809C>T uc010dln.2 - 1 791 c.337G>A c.(337-339)GGC>AGC p.G113S POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 113 skin(3) 3 TTGCTCTTGCCGCTCCCCCTG 0.597 ABCA7 10347 broad.mit.edu 37 19 1056425 1056425 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:1056425C>T uc002lqw.3 + 33 4744 c.4513C>T c.(4513-4515)CGC>TGC p.R1505C ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1505 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) AGGCCCGGCCCGCCACGCCCA 0.612 EMR1 2015 broad.mit.edu 37 19 6906478 6906478 + Silent SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:6906478C>T uc002mfw.2 + 9 1022 c.984C>T c.(982-984)CCC>CCT p.P328P EMR1_uc010dvc.2_Silent_p.P328P|EMR1_uc010dvb.2_Silent_p.P276P|EMR1_uc010xji.1_Silent_p.P187P|EMR1_uc010xjj.1_Silent_p.P151P NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 328 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) ATGTGATACCCGATAATAAGC 0.388 RAVER1 125950 broad.mit.edu 37 19 10434234 10434234 + Silent SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:10434234G>A uc002moa.2 - 4 896 c.816C>T c.(814-816)TGC>TGT p.C272C NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 255 RRM 3. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CATCCTGGCCGCACGCCAGCT 0.667 ZNF676 163223 broad.mit.edu 37 19 22364159 22364159 + Missense_Mutation SNP G C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:22364159G>C uc002nqs.1 - 3 678 c.360C>G c.(358-360)AAC>AAG p.N120K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TATGAAAGACGTTTGCATATT 0.328 PSG7 5676 broad.mit.edu 37 19 43441294 43441294 + Translation_Start_Site SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:43441294C>T uc002ovl.3 - 1 37 c.-65G>A c.(-67--63)CCGTG>CCATG PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Translation_Start_Site NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 female pregnancy extracellular region 0 Prostate(69;0.00682) TTCCTGAGCACGGCTGTCAGC 0.617 C5AR1 728 broad.mit.edu 37 19 47823567 47823567 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:47823567G>A uc002pgj.1 + 2 582 c.533G>A c.(532-534)CGG>CAG p.R178Q NM_001736 NP_001727 P21730 C5AR_HUMAN complement component 5 receptor 1 178 Extracellular (Potential). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CGGGTGGTCCGGGAGGAGTAC 0.637 SPHK2 56848 broad.mit.edu 37 19 49132307 49132307 + Silent SNP A C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:49132307A>C uc002pjr.2 + 7 1608 c.1242A>C c.(1240-1242)TCA>TCC p.S414S SPHK2_uc010xzt.1_Silent_p.S355S|SPHK2_uc002pjs.2_Silent_p.S414S|SPHK2_uc002pjt.2_Silent_p.S208S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.S378S|SPHK2_uc002pjw.2_Silent_p.S476S NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 414 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) tggcccactcacccctgcatc 0.338 POLD1 5424 broad.mit.edu 37 19 50918754 50918754 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:50918754G>A uc002psb.3 + 21 2680 c.2624G>A c.(2623-2625)CGC>CAC p.R875H POLD1_uc002psc.3_Missense_Mutation_p.R875H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R901H NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 875 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CTGTGCAACCGCATCGATATC 0.657 DNA_polymerases_(catalytic_subunits) CCDC148 130940 broad.mit.edu 37 2 159215014 159215015 + Frame_Shift_Ins INS - T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr2:159215014_159215015insT uc002tzq.2 - 2 356_357 c.93_94insA c.(91-96)CAATTGfs p.Q31fs CCDC148_uc002tzr.2_5'UTR|CCDC148_uc010foh.2_5'UTR|CCDC148_uc010foi.1_Intron|CCDC148_uc010foj.1_5'UTR|CCDC148_uc010fok.1_Intron|CCDC148_uc002tzs.1_Frame_Shift_Ins_p.Q31fs NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 31_32 ovary(2) 2 AATGCACGCAATTGTTGATAGT 0.322 ITGB6 3694 broad.mit.edu 37 2 160993973 160993973 + Silent SNP G A A rs61737765 byFrequency TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr2:160993973G>A uc002ubh.2 - 10 1648 c.1632C>T c.(1630-1632)TGC>TGT p.C544C ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 544 Extracellular (Potential).|III.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 TGTGTCTCACGCAGGAGAAAT 0.488 COL6A3 1293 broad.mit.edu 37 2 238275681 238275681 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr2:238275681C>T uc002vwl.2 - 11 5434 c.5149G>A c.(5149-5151)GCC>ACC p.A1717T COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1717 VWFA 9.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTAGTGTTGGCGTGTCTTCCC 0.542 SNX5 27131 broad.mit.edu 37 20 17929612 17929612 + Silent SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr20:17929612C>T uc002wqc.2 - 10 926 c.840G>A c.(838-840)GAG>GAA p.E280E SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.E280E|SNX5_uc002wqe.2_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E NM_014426 NP_055241 Q9Y5X3 SNX5_HUMAN sorting nexin 5 280 BAR. cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding large_intestine(1) 1 AAACTCGACCCTCTACTTTCT 0.383 NCOA3 8202 broad.mit.edu 37 20 46264906 46264906 + Silent SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr20:46264906C>T uc002xtk.2 + 12 1981 c.1776C>T c.(1774-1776)CAC>CAT p.H592H NCOA3_uc010ght.1_Silent_p.H602H|NCOA3_uc002xtl.2_Silent_p.H592H|NCOA3_uc002xtm.2_Silent_p.H592H|NCOA3_uc002xtn.2_Silent_p.H592H|NCOA3_uc010zyc.1_Silent_p.H387H NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 592 Ser-rich. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 GCAGAGATCACCTCAGTGACA 0.423 DSCAM 1826 broad.mit.edu 37 21 41455893 41455893 + Silent SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr21:41455893C>T uc002yyq.1 - 24 4625 c.4173G>A c.(4171-4173)ACG>ACA p.T1391T DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1391 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGAGGAAGACGTGGTCTTGG 0.433 CDC45 8318 broad.mit.edu 37 22 19504408 19504408 + Missense_Mutation SNP A C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr22:19504408A>C uc002zpr.2 + 17 1704 c.1628A>C c.(1627-1629)GAC>GCC p.D543A CDC45_uc011aha.1_Missense_Mutation_p.D575A|CDC45_uc002zps.2_Missense_Mutation_p.D544A|CDC45_uc002zpt.2_Missense_Mutation_p.D497A NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 543 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 AACCATTTTGACCTCTCAGGT 0.572 MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG - - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr22:20920814_20920816delCAG uc002zsp.2 + 7 831_833 c.751_753delCAG c.(751-753)CAGdel p.Q262del MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.2_In_Frame_Del_p.Q262del|MED15_uc010gso.2_In_Frame_Del_p.Q262del|MED15_uc002zsr.2_In_Frame_Del_p.Q236del|MED15_uc011ahs.1_In_Frame_Del_p.Q236del|MED15_uc002zss.2_In_Frame_Del_p.Q181del|MED15_uc011ahu.1_5'UTR NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.315 LOC96610 96610 broad.mit.edu 37 22 22994945 22994950 + Splice_Site DEL ATGTGA - - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr22:22994945_22994950delATGTGA uc011aim.1 + 113 c.7488_splice c.e113-2 Parts of antibodies, mostly variable regions. 0 gtgtgtgggtatgtgagtgtgagtgt 0.165 BSN 8927 broad.mit.edu 37 3 49689184 49689184 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr3:49689184G>A uc003cxe.3 + 5 2309 c.2195G>A c.(2194-2196)CGG>CAG p.R732Q NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 732 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGCAGCATGCGGCCTTTGCTG 0.667 SEMA3G 56920 broad.mit.edu 37 3 52475289 52475289 + Silent SNP G A A rs138050174 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr3:52475289G>A uc003dea.1 - 7 804 c.804C>T c.(802-804)CGC>CGT p.R268R NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 268 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) CCACGCAGACGCGGCCCACGC 0.612 PLXNA1 5361 broad.mit.edu 37 3 126733439 126733439 + Missense_Mutation SNP G A A rs138171477 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr3:126733439G>A uc003ejg.2 + 12 2658 c.2654G>A c.(2653-2655)AGC>AAC p.S885N NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 908 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GTGCTGTGCAGCCCTGTGGAG 0.577 D4S234E 27065 broad.mit.edu 37 4 4411320 4411320 + Silent SNP C T T rs143847165 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:4411320C>T uc011bvz.1 + 7 1548 c.267C>T c.(265-267)TTC>TTT p.F89F D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.2_Silent_p.F89F|D4S234E_uc003gia.2_Silent_p.F89F|D4S234E_uc003gib.2_Silent_p.F89F NM_014392 NP_055207 P42857 NSG1_HUMAN brain neuron cytoplasmic protein 1 89 Helical; Signal-anchor for type II membrane protein; (Potential). dopamine receptor signaling pathway Golgi membrane|integral to membrane|nucleus dopamine receptor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) TGGTCCTCTTCGCCCTGGCCT 0.617 UGT2A3 79799 broad.mit.edu 37 4 69795715 69795715 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:69795715C>T uc003hef.2 - 6 1431 c.1400G>A c.(1399-1401)CGC>CAC p.R467H UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 467 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 TCCTTTGTGGCGCATGACAAA 0.488 EGF 1950 broad.mit.edu 37 4 110864421 110864421 + Silent SNP T C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:110864421T>C uc003hzy.3 + 3 791 c.339T>C c.(337-339)AAT>AAC p.N113N EGF_uc011cfu.1_Silent_p.N113N|EGF_uc011cfv.1_Silent_p.N113N NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 113 LDL-receptor class B 1.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GAGTATGTAATATAGAGAAAA 0.249 FAT4 79633 broad.mit.edu 37 4 126241369 126241369 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:126241369C>T uc003ifj.3 + 1 3803 c.3803C>T c.(3802-3804)ACA>ATA p.T1268I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1268 Cadherin 12.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGTCAGGTAACACTAATTGGC 0.373 INPP4B 8821 broad.mit.edu 37 4 143159105 143159105 + Nonsense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:143159105G>A uc003iix.3 - 13 1343 c.748C>T c.(748-750)CGA>TGA p.R250* INPP4B_uc003iiw.3_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121* NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 250 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TCTCGAATTCGCATCCACTTA 0.318 SH3RF1 57630 broad.mit.edu 37 4 170043337 170043337 + Silent SNP A G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:170043337A>G uc003isa.1 - 7 1595 c.1260T>C c.(1258-1260)GCT>GCC p.A420A SH3RF1_uc010irc.1_Silent_p.A120A NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 420 Poly-Ala. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CAGCAGCAGCAGCGGCGGTGG 0.582 DNAH5 1767 broad.mit.edu 37 5 13719110 13719110 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:13719110C>T uc003jfd.2 - 72 12422 c.12380G>A c.(12379-12381)CGC>CAC p.R4127H DNAH5_uc003jfc.2_Missense_Mutation_p.R295H NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4127 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CATCCAGAGGCGGAACGCATC 0.493 Kartagener_syndrome TRIO 7204 broad.mit.edu 37 5 14462975 14462975 + Missense_Mutation SNP C G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:14462975C>G uc003jff.2 + 36 5614 c.5608C>G c.(5608-5610)CCG>GCG p.P1870A TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.P1519A|TRIO_uc003jfi.1_Missense_Mutation_p.P173A NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1870 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CGTGCCCCTGCCGCCACCCAT 0.652 GDNF 2668 broad.mit.edu 37 5 37816010 37816010 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:37816010C>T uc011cpi.1 - 3 579 c.379G>A c.(379-381)GTC>ATC p.V127I GDNF_uc011cpc.1_Missense_Mutation_p.V49I|GDNF_uc011cpd.1_Missense_Mutation_p.V75I|GDNF_uc011cpe.1_Missense_Mutation_p.V101I|GDNF_uc011cpf.1_Missense_Mutation_p.V101I|GDNF_uc011cpg.1_Missense_Mutation_p.V144I|GDNF_uc011cph.1_Missense_Mutation_p.V118I NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 127 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) AAGTCAGTGACATTTAAATGT 0.493 PIK3R1 5295 broad.mit.edu 37 5 67589199 67589213 + In_Frame_Del DEL TAACCTTCAGTTCTG - - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:67589199_67589213delTAACCTTCAGTTCTG uc003jva.2 + 10 1747_1761 c.1187_1201delTAACCTTCAGTTCTG c.(1186-1203)TTAACCTTCAGTTCTGTG>TTG p.TFSSV397del PIK3R1_uc003jvb.2_In_Frame_Del_p.TFSSV397del|PIK3R1_uc003jvc.2_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.2_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.2_In_Frame_Del_p.TFSSV76del|PIK3R1_uc011crb.1_In_Frame_Del_p.TFSSV67del NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 397_401 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TCTGACCCATTAACCTTCAGTTCTGTGGTTGAATT 0.326 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) PCDHA6 56142 broad.mit.edu 37 5 140208958 140208958 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:140208958C>T uc003lho.2 + 1 1309 c.1282C>T c.(1282-1284)CGG>TGG p.R428W 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_Missense_Mutation_p.R428W|PCDHA6_uc011dab.1_Missense_Mutation_p.R428W NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 428 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTAACCGCGCGGGACGGGGG 0.617 PCDHGA4 56111 broad.mit.edu 37 5 140735359 140735359 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:140735359C>T uc003ljq.1 + 1 592 c.592C>T c.(592-594)CGC>TGC p.R198C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R198C NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 198 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCTGGAACGCGCTCTAGA 0.562 PPARGC1B 133522 broad.mit.edu 37 5 149219665 149219665 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:149219665C>T uc003lrc.2 + 9 2722 c.2680C>T c.(2680-2682)CGG>TGG p.R894W PPARGC1B_uc003lrb.1_Missense_Mutation_p.R894W|PPARGC1B_uc003lrd.2_Missense_Mutation_p.R855W|PPARGC1B_uc003lrf.2_Missense_Mutation_p.R873W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R873W NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 894 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAGGAAGCGGCGGGAAAAGGC 0.577 NRN1 51299 broad.mit.edu 37 6 5999377 5999377 + Silent SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr6:5999377C>T uc003mwu.2 - 3 912 c.261G>A c.(259-261)GCG>GCA p.A87A NRN1_uc003mwt.2_Silent_p.A113A NM_016588 NP_057672 Q9NPD7 NRN1_HUMAN neuritin precursor 87 anchored to membrane|plasma membrane 0 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) ACATATCTTTCGCCCCTTCCT 0.527 DSP 1832 broad.mit.edu 37 6 7584664 7584664 + Missense_Mutation SNP T C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr6:7584664T>C uc003mxp.1 + 24 7448 c.7169T>C c.(7168-7170)ATA>ACA p.I2390T DSP_uc003mxq.1_Missense_Mutation_p.I1791T NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2390 Plectin 10.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCAGTTGACATAGCATATAAG 0.443 GPR146 115330 broad.mit.edu 37 7 1098107 1098107 + Frame_Shift_Del DEL G - - rs147446123 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:1098107delG uc003sjw.2 + 2 1032 c.956delG c.(955-957)CGGfs p.R319fs C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Frame_Shift_Del_p.R319fs|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs NM_138445 NP_612454 Q96CH1 GP146_HUMAN G protein-coupled receptor 146 319 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) TGCGGGGACCGGCACTGCTCC 0.617 PDE1C 5137 broad.mit.edu 37 7 31855673 31855673 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:31855673C>T uc003tcm.1 - 15 2147 c.1678G>A c.(1678-1680)GCA>ACA p.A560T PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.1_Missense_Mutation_p.A620T|PDE1C_uc003tcr.2_Missense_Mutation_p.A560T|PDE1C_uc003tcs.2_Missense_Mutation_p.A560T NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 560 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TTGCCAGATGCGCCTTCTTCA 0.502 CD36 948 broad.mit.edu 37 7 80295787 80295787 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:80295787G>A uc003uhc.2 + 11 1414 c.730G>A c.(730-732)GAC>AAC p.D244N CD36_uc003uhd.3_Missense_Mutation_p.D244N|CD36_uc011kgv.1_Missense_Mutation_p.D168N|CD36_uc003uhe.3_Missense_Mutation_p.D244N|CD36_uc003uhf.3_Missense_Mutation_p.D244N|CD36_uc003uhg.3_Missense_Mutation_p.D244N|CD36_uc003uhh.3_Missense_Mutation_p.D244N NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 244 Extracellular (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 AAGTCACTGCGACATGATTAA 0.348 DPY19L2P2 349152 broad.mit.edu 37 7 102898149 102898149 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:102898149C>T uc003vbh.3 - 8 2232 c.41G>A c.(40-42)CGC>CAC p.R14H DPY19L2P2_uc003vbg.3_RNA|DPY19L2P2_uc010lit.2_RNA NR_003561 RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2; 0 CATGAATGTGCGATACCAGGA 0.308 SLC26A4 5172 broad.mit.edu 37 7 107303838 107303838 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:107303838G>A uc003vep.2 + 3 486 c.262G>A c.(262-264)GTC>ATC p.V88I LOC286002_uc003veo.3_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 88 Helical; (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 GCTTAGTGACGTCATTTCGGG 0.502 Pendred_syndrome WDR91 29062 broad.mit.edu 37 7 134874110 134874110 + Missense_Mutation SNP A G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:134874110A>G uc003vsp.2 - 12 1816 c.1754T>C c.(1753-1755)GTC>GCC p.V585A WDR91_uc010lmq.2_Missense_Mutation_p.V174A|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 585 WD 4. breast(2)|ovary(1)|skin(1) 4 CAGCCGGATGACGCCATCAGC 0.488 OR2F2 135948 broad.mit.edu 37 7 143632553 143632553 + Silent SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:143632553C>T uc011ktv.1 + 1 228 c.228C>T c.(226-228)AGC>AGT p.S76S NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) ATGCCACAAGCGTAGTCCCCC 0.517 NOBOX 135935 broad.mit.edu 37 7 144098293 144098293 + Missense_Mutation SNP G T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:144098293G>T uc011kue.1 - 4 690 c.690C>A c.(688-690)CAC>CAA p.H230Q NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 230 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GCACTGGGTTGTGTGTGGCAC 0.617 ADAM28 10863 broad.mit.edu 37 8 24167473 24167473 + Frame_Shift_Del DEL A - - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:24167473delA uc003xdy.2 + 3 300 c.217delA c.(217-219)AAAfs p.K73fs ADAM28_uc003xdx.2_Frame_Shift_Del_p.K73fs|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_RNA NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 73 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GCTTTATTTGAAAAAAAACAA 0.333 DOCK5 80005 broad.mit.edu 37 8 25246735 25246735 + Silent SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:25246735G>A uc003xeg.2 + 41 4397 c.4260G>A c.(4258-4260)TCG>TCA p.S1420S PPP2R2A_uc003xek.2_Silent_p.S209S|DOCK5_uc003xei.2_Silent_p.S990S|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1420 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) ACATCAAGTCGTCCCCCAAGC 0.567 BRF2 55290 broad.mit.edu 37 8 37704528 37704528 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:37704528C>T uc003xkk.2 - 3 490 c.380G>A c.(379-381)CGA>CAA p.R127Q NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN RNA polymerase III transcription initiation 127 1. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding 0 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) GTTATGCTGTCGGCAGGTGAT 0.527 SOX17 64321 broad.mit.edu 37 8 55371633 55371633 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:55371633C>T uc003xsb.3 + 2 527 c.323C>T c.(322-324)GCG>GTG p.A108V NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 108 HMG box. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) TCGTGGAAGGCGCTGACGCTG 0.701 WDR67 93594 broad.mit.edu 37 8 124113069 124113069 + Missense_Mutation SNP A G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:124113069A>G uc003ypp.1 + 7 944 c.854A>G c.(853-855)GAT>GGT p.D285G WDR67_uc011lig.1_Missense_Mutation_p.D285G|WDR67_uc011lih.1_Missense_Mutation_p.D175G|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.2_RNA NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 285 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CTAAGTCAAGATGGTATTATG 0.353 ADCY8 114 broad.mit.edu 37 8 131896832 131896832 + Missense_Mutation SNP T G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:131896832T>G uc003ytd.3 - 8 2343 c.2087A>C c.(2086-2088)AAA>ACA p.K696T ADCY8_uc010mds.2_Missense_Mutation_p.K696T NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 696 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCTGGAGTCTTTAAACATCAG 0.468 HNSCC(32;0.087) KIF24 347240 broad.mit.edu 37 9 34257897 34257897 + Nonsense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr9:34257897G>A uc003zua.3 - 11 1828 c.1708C>T c.(1708-1710)CGA>TGA p.R570* KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 570 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) CTCTGAATTCGTTTTGGAGAG 0.448 COL15A1 1306 broad.mit.edu 37 9 101810265 101810265 + Missense_Mutation SNP C A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr9:101810265C>A uc004azb.1 + 28 2982 c.2776C>A c.(2776-2778)CCA>ACA p.P926T NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 926 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CAAAGGAGATCCAGGGGTCAT 0.617 C9orf86 55684 broad.mit.edu 37 9 139726289 139726289 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr9:139726289G>A uc004cji.1 + 6 843 c.575G>A c.(574-576)CGT>CAT p.R192H C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.2_Missense_Mutation_p.R192H|C9orf86_uc004cjj.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R192H|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H NM_024718 NP_078994 Q3YEC7 PARF_HUMAN Rab-like GTP-binding protein 1 isoform 1 192 Small GTPase-like. small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding 0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) GACGACGTGCGTGACTTCATC 0.677 ARSH 347527 broad.mit.edu 37 X 2931164 2931164 + Silent SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:2931164G>A uc011mhj.1 + 3 291 c.291G>A c.(289-291)ACG>ACA p.T97T NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 97 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCAATGAAACGACTTTTGCCA 0.552 ELK1 2002 broad.mit.edu 37 X 47496310 47496310 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:47496310C>T uc004dik.3 - 7 1527 c.1205G>A c.(1204-1206)AGC>AAC p.S402N ELK1_uc010nhv.2_Missense_Mutation_p.S402N|ELK1_uc010nhw.2_Missense_Mutation_p.S292N|ELK1_uc004dil.3_RNA NM_001114123 NP_001107595 P19419 ELK1_HUMAN ELK1 protein 402 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 CACCTGGGCGCTGCCACTGGA 0.597 ZNF182 7569 broad.mit.edu 37 X 47842806 47842806 + Silent SNP T C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:47842806T>C uc004dir.2 - 5 424 c.78A>G c.(76-78)CTA>CTG p.L26L ZNF182_uc004dis.2_Silent_p.L7L|ZNF182_uc004dit.2_Silent_p.L26L|ZNF182_uc011mlu.1_Silent_p.L7L|ZNF630_uc010nhz.1_RNA NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 CAAATGTCACTAGCCCCTGTA 0.463 WAS 7454 broad.mit.edu 37 X 48545194 48545194 + Missense_Mutation SNP T G G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:48545194T>G uc004dkm.3 + 7 641 c.584T>G c.(583-585)CTG>CGG p.L195R NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 195 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) CCGCTCTCCCTGGGGCTGGCG 0.582 Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome SHROOM4 57477 broad.mit.edu 37 X 50377938 50377938 + Missense_Mutation SNP C T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:50377938C>T uc004dpe.2 - 4 1161 c.1135G>A c.(1135-1137)GTG>ATG p.V379M SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 379 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) TTGGAATCCACGCTGGAAGCT 0.542 ERCC6L 54821 broad.mit.edu 37 X 71425657 71425657 + Missense_Mutation SNP T C C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:71425657T>C uc004eaq.1 - 2 3057 c.2960A>G c.(2959-2961)AAT>AGT p.N987S PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N864S NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 987 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) TGCTCTGGAATTAGGTGCAGA 0.393 AMOT 154796 broad.mit.edu 37 X 112025789 112025789 + Missense_Mutation SNP C A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:112025789C>A uc004epr.2 - 8 2219 c.2219G>T c.(2218-2220)CGT>CTT p.R740L AMOT_uc004eps.2_Missense_Mutation_p.R331L|AMOT_uc011mtc.1_5'Flank|hsa-mir-4329|MI0015901_5'Flank NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 740 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 GTCAAGGCAACGCTTATTGGC 0.453 FAM70A 55026 broad.mit.edu 37 X 119410875 119410875 + Nonsense_Mutation SNP G T T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:119410875G>T uc004eso.3 - 8 839 c.612C>A c.(610-612)TAC>TAA p.Y204* FAM70A_uc004esp.3_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 204 integral to membrane lung(1)|breast(1) 2 CGATGTATTCGTAGTACCCAC 0.582 GDI1 2664 broad.mit.edu 37 X 153666947 153666947 + Missense_Mutation SNP G A A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:153666947G>A uc004fli.3 + 2 466 c.124G>A c.(124-126)GAG>AAG p.E42K GDI1_uc011mzo.1_Missense_Mutation_p.E42K NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 42 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 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) CTACGGGGGCGAGAGCTCCTC 0.617