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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample LRRC47 57470 broad.mit.edu 37 1 3697775 3697775 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:3697775G>A uc001akx.1 - 7 1657 c.1629C>T c.(1627-1629)GAC>GAT p.D543D NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 543 translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGGAGGGCCCGTCCTTTCCAG 0.572 NaN 0 0 0 0.00361 0 43 101 TNFRSF1B 7133 broad.mit.edu 37 1 12251945 12251945 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:12251945G>A uc001att.2 + 4 511 c.422G>A c.(421-423)CGC>CAC p.R141H TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA NM_001066 NP_001057 P20333 TNR1B_HUMAN tumor necrosis factor receptor 2 precursor 141 TNFR-Cys 3.|Extracellular (Potential). R -> P (in Ref. 15; AAA63262). apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity liver(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GCGCCGCTGCGCAAGTGCCGC 0.687 NaN 0 0 0 0.00361 0 69 59 PDPN 10630 broad.mit.edu 37 1 13933692 13933692 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:13933692A>T uc001avd.2 + 2 369 c.320A>T c.(319-321)GAC>GTC p.D107V PDPN_uc001avc.2_Missense_Mutation_p.D107V|PDPN_uc009vob.2_5'UTR|PDPN_uc009voc.2_5'UTR|PDPN_uc001ave.2_5'UTR|PDPN_uc001avf.2_5'UTR NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 31 Extracellular (Potential). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane ovary(2) 2 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CCAGAAGATGACACTGAGACT 0.517 NaN 0 0 0 0.006999 0 34 52 EPHA2 1969 broad.mit.edu 37 1 16456035 16456035 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:16456035G>T uc001aya.1 - 16 2856 c.2719C>A c.(2719-2721)CGC>AGC p.R907S NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 907 SAM.|Cytoplasmic (Potential).|Negatively regulates interaction with ARHGEF16. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GACACCGTGCGGAAGGGCACC 0.478 NaN 1 0 1.66795e-42 0.00361 1.91836e-42 74 59 WASF2 10163 broad.mit.edu 37 1 27745578 27745578 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:27745578C>T uc001bof.1 - 3 358 c.142G>A c.(142-144)GAG>AAG p.E48K WASF2_uc010ofl.1_Missense_Mutation_p.E48K NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 48 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding skin(2)|ovary(1) 3 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) AAAATGTCCTCTGCATATTTA 0.443 NaN 0 0 0 0.008291 0 7 35 STX12 23673 broad.mit.edu 37 1 28099877 28099877 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:28099877G>C uc001bou.3 + 1 184 c.59G>C c.(58-60)CGG>CCG p.R20P NM_177424 NP_803173 Q86Y82 STX12_HUMAN syntaxin 12 20 Cytoplasmic (Potential). cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) CCCCAGCTCCGGGACTTCAGC 0.657 NaN 0 0 0 0.006999 0 37 39 EPB41 2035 broad.mit.edu 37 1 29314319 29314319 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:29314319G>A uc001brm.1 + 1 377 c.370G>A c.(370-372)GAA>AAA p.E124K EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.E124K|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.E124K|EPB41_uc001brk.2_Missense_Mutation_p.E124K|EPB41_uc001brl.1_Missense_Mutation_p.E124K|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_5'UTR NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 124 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CAGTCTTGATGAAGAGATCAT 0.423 NaN 0 0 0 0.003163 0 13 36 CLSPN 63967 broad.mit.edu 37 1 36235553 36235553 + Splice_Site SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:36235553C>T uc001bzi.2 - 1 1 c.-79_splice c.e1-1 CLSPN_uc009vux.2_Splice_Site NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCCGCCGTCTCCAGCCCAGCA 0.642 NaN 0 0 0 0.004482 0 9 29 EIF2C1 26523 broad.mit.edu 37 1 36367599 36367599 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:36367599C>A uc001bzl.2 + 10 1404 c.1191C>A c.(1189-1191)ATC>ATA p.I397I EIF2C1_uc001bzk.2_Silent_p.I322I|EIF2C1_uc009vuy.2_Intron NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 397 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AATTTGGGATCAAAGTGAAGG 0.542 NaN 1 0 1.22674e-20 0.00874 1.35988e-20 38 64 KIAA0754 643314 broad.mit.edu 37 1 39876847 39876847 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:39876847C>G uc009vvt.1 + 1 1672 c.910C>G c.(910-912)CAT>GAT p.H304D MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 168 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCAGAATTGCATGTTCTCAT 0.522 NaN OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 6 15 SLFNL1 200172 broad.mit.edu 37 1 41486281 41486281 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:41486281C>T uc001cgm.1 - 2 272 c.52G>A c.(52-54)GAG>AAG p.E18K SLFNL1_uc009vwf.1_Missense_Mutation_p.E18K|SLFNL1_uc001cgn.1_Missense_Mutation_p.E18K|SLFNL1_uc009vwg.1_Missense_Mutation_p.E18K NM_144990 NP_659427 Q499Z3 SLNL1_HUMAN schlafen-like 1 18 ATP binding skin(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) CCCCAGGACTCCATGAAGGGC 0.607 NaN 0 0 0 0.00361 0 67 62 TMEM53 79639 broad.mit.edu 37 1 45120323 45120323 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:45120323C>T uc001cmc.2 - 3 778 c.742G>A c.(742-744)GTG>ATG p.V248M TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.V175M|TMEM53_uc009vxh.1_Missense_Mutation_p.V131M|TMEM53_uc010ola.1_Missense_Mutation_p.V131M NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN transmembrane protein 53 248 integral to membrane ovary(2) 2 Acute lymphoblastic leukemia(166;0.155) GCAGATGACACGAAATCCACA 0.592 NaN 0 0 0 0.00361 0 118 134 NASP 4678 broad.mit.edu 37 1 46073334 46073334 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:46073334C>A uc001coi.1 + 6 853 c.751C>A c.(751-753)CAA>AAA p.Q251K NASP_uc010olq.1_Missense_Mutation_p.Q214K|NASP_uc001coh.1_Missense_Mutation_p.Q253K|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.Q187K|NASP_uc001cok.1_Missense_Mutation_p.Q134K NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 251 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) AACTGATGTCCAAGAAGAGTG 0.478 NaN 1 0 2.56e-06 0.009096 2.64e-06 3 16 MAST2 23139 broad.mit.edu 37 1 46497147 46497147 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:46497147C>A uc001cov.2 + 24 3360 c.3077C>A c.(3076-3078)GCC>GAC p.A1026D MAST2_uc001cow.2_Missense_Mutation_p.A1026D|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 1026 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GTGCGTAGGGCCCGCCACCGG 0.627 NaN 1 0 1.57351e-24 0.003755 1.75791e-24 32 96 MAST2 23139 broad.mit.edu 37 1 46501315 46501315 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:46501315G>C uc001cov.2 + 29 5257 c.4974G>C c.(4972-4974)TGG>TGC p.W1658C MAST2_uc001cow.2_Missense_Mutation_p.W1657C|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 1658 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TGTGGTCCTGGAAATCCCTTA 0.572 NaN 0 0 0 0.002299 0 18 49 UQCRH 7388 broad.mit.edu 37 1 46769446 46769446 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:46769446T>C uc001cpp.2 + 1 67 c.8T>C c.(7-9)CTG>CCG p.L3P LRRC41_uc001cpn.2_5'Flank|LRRC41_uc010omb.1_5'Flank|LRRC41_uc001cpo.1_5'Flank|UQCRH_uc001cpq.2_RNA NM_006004 NP_005995 P07919 QCR6_HUMAN ubiquinol-cytochrome c reductase hinge protein 3 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity 0 Acute lymphoblastic leukemia(166;0.155) GACATGGGACTGGAGGACGAG 0.552 NaN 0 0 0 0.005443 0 20 60 ATPAF1 64756 broad.mit.edu 37 1 47110887 47110887 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:47110887A>G uc001cqh.2 - 7 735 c.630T>C c.(628-630)TTT>TTC p.F210F ATPAF1_uc001cqg.2_Intron|ATPAF1_uc009vyk.2_Silent_p.F59F|ATPAF1_uc010omg.1_Silent_p.F122F|ATPAF1_uc001cqi.2_Intron NM_022745 NP_073582 Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly 210 protein complex assembly mitochondrion protein binding 0 Acute lymphoblastic leukemia(166;0.155) ATTGTCCTACAAAAAACTCAT 0.398 NaN 0 0 0 0.006122 0 15 48 RAB3B 5865 broad.mit.edu 37 1 52442691 52442691 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:52442691A>C uc001cth.2 - 2 224 c.99T>G c.(97-99)GTT>GTG p.V33V NM_002867 NP_002858 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 33 GTP. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1) 1 AGGTCTTGCCAACACTGCTGT 0.483 NaN 0 0 0 0.00361 0 67 39 CC2D1B 200014 broad.mit.edu 37 1 52821951 52821951 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:52821951C>G uc001ctq.1 - 18 2117 c.1979G>C c.(1978-1980)CGC>CCC p.R660P CC2D1B_uc001ctr.2_Missense_Mutation_p.R200P|CC2D1B_uc001cts.2_Missense_Mutation_p.R345P NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 660 ovary(2) 2 CTGTTTCTTGCGGTCCTGAGC 0.567 NaN 0 0 0 0.00874 0 39 126 PODN 127435 broad.mit.edu 37 1 53542872 53542872 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:53542872C>G uc001cuv.2 + 6 743 c.736C>G c.(736-738)CTG>GTG p.L246V PODN_uc001cuw.2_Missense_Mutation_p.L227V|PODN_uc010onr.1_Missense_Mutation_p.L227V|PODN_uc010ons.1_Intron NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 198 LRR 5. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GTCTGTGTACCTGCACAACAA 0.627 NaN 0 0 0 0.00361 0 66 204 EFCAB7 84455 broad.mit.edu 37 1 64021038 64021038 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:64021038T>C uc001dbf.2 + 9 1360 c.1066T>C c.(1066-1068)TGG>CGG p.W356R NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 356 calcium ion binding 0 GGTGTTTGGATGGACTGGTGA 0.343 NaN 0 0 0 0.00361 0 34 22 TNNI3K 51086 broad.mit.edu 37 1 74835181 74835181 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:74835181G>A uc001dgf.1 + 16 1630 c.1579G>A c.(1579-1581)GCT>ACT p.A527T TNNI3K_uc001dgc.1_Missense_Mutation_p.A628T|TNNI3K_uc001dgd.2_Missense_Mutation_p.A628T|TNNI3K_uc001dge.1_Missense_Mutation_p.A628T NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 527 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 GTTTGTGGGTGCTTGCTTGAA 0.478 NaN 0 0 0 0.002096 0 26 61 ZZZ3 26009 broad.mit.edu 37 1 78050334 78050334 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:78050334C>T uc001dhq.2 - 6 1988 c.1512G>A c.(1510-1512)CAG>CAA p.Q504Q ZZZ3_uc001dhr.2_Silent_p.Q10Q|ZZZ3_uc009wbz.1_3'UTR|ZZZ3_uc001dhp.2_Silent_p.Q504Q NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 GTAATAGTCTCTGATAACTAC 0.373 NaN 0 0 0 0.00308 0 7 17 COL24A1 255631 broad.mit.edu 37 1 86590911 86590911 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:86590911G>A uc001dlj.2 - 3 1150 c.1108C>T c.(1108-1110)CTC>TTC p.L370F COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.L370F NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 370 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ATGTTTAGGAGAGAGCTAAAT 0.378 NaN 0 0 0 0.009535 0 21 19 SLC30A7 148867 broad.mit.edu 37 1 101362198 101362198 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:101362198G>A uc001dtn.2 + 2 340 c.153G>A c.(151-153)GTG>GTA p.V51V EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Silent_p.V51V NM_001144884 NP_001138356 Q8NEW0 ZNT7_HUMAN zinc transporter like 2 51 Helical; (Potential). zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding 0 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) TCGCTTTTGTGGAACTACTCT 0.502 NaN 0 0 0 0.00308 0 7 19 KIAA1324 57535 broad.mit.edu 37 1 109731742 109731742 + Nonsense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:109731742G>A uc001dwq.2 + 11 1410 c.1274G>A c.(1273-1275)TGG>TAG p.W425* KIAA1324_uc009wex.1_Nonsense_Mutation_p.W375*|KIAA1324_uc009wey.2_Nonsense_Mutation_p.W338*|KIAA1324_uc010ovg.1_Nonsense_Mutation_p.W323*|KIAA1324_uc001dwr.2_Nonsense_Mutation_p.W75* NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 425 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GAATACAAATGGTGGAACACG 0.527 NaN 0 0 0 0.003271 0 30 30 PTPN22 26191 broad.mit.edu 37 1 114372323 114372323 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:114372323T>G uc001eds.2 - 18 2271 c.2141A>C c.(2140-2142)CAG>CCG p.Q714P PTPN22_uc009wgq.2_Missense_Mutation_p.Q659P|PTPN22_uc010owo.1_Missense_Mutation_p.Q470P|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Q714P|PTPN22_uc009wgs.2_Missense_Mutation_p.Q587P NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 714 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGATTGGGCCTGCATACCTTA 0.338 NaN 0 0 0 0.004672 0 3 15 AP4B1 10717 broad.mit.edu 37 1 114442966 114442966 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:114442966T>C uc001eeb.2 - 5 817 c.674A>G c.(673-675)TAC>TGC p.Y225C uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.Y57C|AP4B1_uc001eed.2_Missense_Mutation_p.Y225C|AP4B1_uc010owp.1_Missense_Mutation_p.Y126C|AP4B1_uc001eea.1_Missense_Mutation_p.Y19C|AP4B1_uc010owq.1_Missense_Mutation_p.Y132C NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 225 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGGGGTTGGTAGCGTAGCAG 0.423 NaN 0 0 0 0.00632 0 21 29 HIPK1 204851 broad.mit.edu 37 1 114512680 114512680 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:114512680G>A uc001eem.2 + 14 3035 c.2874G>A c.(2872-2874)CTG>CTA p.L958L HIPK1_uc001eel.2_Silent_p.L958L|HIPK1_uc001een.2_Silent_p.L958L|HIPK1_uc001eeo.2_Silent_p.L584L|HIPK1_uc001eep.2_Silent_p.L564L|HIPK1_uc001eeq.2_Silent_p.L250L NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 958 Required for localization to nuclear speckles (By similarity).|Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGATACCCTGAGTGCTCTCC 0.507 NaN 0 0 0 0.00361 0 49 103 ZNF697 90874 broad.mit.edu 37 1 120166097 120166097 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:120166097A>T uc001ehy.1 - 3 983 c.869T>A c.(868-870)CTG>CAG p.L290Q NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 290 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GTCGGCGCACAGGTTGGGCCG 0.687 NaN 0 0 0 0.004656 0 21 17 NOTCH2 4853 broad.mit.edu 37 1 120529583 120529583 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:120529583C>T uc001eik.2 - 5 1130 c.874G>A c.(874-876)GGA>AGA p.G292R NOTCH2_uc001eil.2_Missense_Mutation_p.G292R|NOTCH2_uc001eim.3_Missense_Mutation_p.G209R NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 292 EGF-like 7; calcium-binding (Potential).|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGTACATACCTGTCCATTGT 0.458 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 0 0 0 0.00361 0 37 44 RPRD2 23248 broad.mit.edu 37 1 150444196 150444196 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:150444196G>T uc009wlr.2 + 11 2973 c.2772G>T c.(2770-2772)GGG>GGT p.G924G RPRD2_uc010pcc.1_Silent_p.G898G|RPRD2_uc001eup.3_Silent_p.G898G NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 924 Ser-rich. protein binding ovary(1) 1 ATGAACCTGGGTCTGACCGGT 0.507 NaN 1 0 1.28101e-76 0.00361 1.49742e-76 127 119 FLG2 388698 broad.mit.edu 37 1 152328005 152328005 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:152328005C>T uc001ezw.3 - 3 2330 c.2257G>A c.(2257-2259)GGA>AGA p.G753R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 753 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGATTGTCCTGAGCCAGAC 0.512 NaN 0 0 0 0.00361 0 148 236 GON4L 54856 broad.mit.edu 37 1 155796703 155796703 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:155796703G>C uc001flz.2 - 3 719 c.622C>G c.(622-624)CAA>GAA p.Q208E GON4L_uc001fly.1_Missense_Mutation_p.Q208E|GON4L_uc009wrh.1_Missense_Mutation_p.Q208E|GON4L_uc001fma.1_Missense_Mutation_p.Q208E|GON4L_uc001fmc.2_Missense_Mutation_p.Q208E|GON4L_uc001fmd.3_Missense_Mutation_p.Q208E|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.Q36E NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 208 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GGCTTTTCTTGAGGAGAGGCA 0.468 NaN 0 0 0 0.006122 0 14 49 OR10Z1 128368 broad.mit.edu 37 1 158576875 158576875 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:158576875T>C uc010pio.1 + 1 647 c.647T>C c.(646-648)ATC>ACC p.I216T NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TTCATCACCATCTCCTACGCC 0.532 NaN 0 0 0 0.009535 0 30 34 ADCY10 55811 broad.mit.edu 37 1 167814903 167814903 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:167814903C>T uc001ger.2 - 21 3203 c.2905G>A c.(2905-2907)GGC>AGC p.G969S ADCY10_uc009wvk.2_Missense_Mutation_p.G877S|ADCY10_uc010plj.1_Missense_Mutation_p.G816S|ADCY10_uc009wvl.2_Missense_Mutation_p.G968S NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 969 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 AAGTCCCTGCCTCGGCAGTGG 0.463 NaN 0 0 0 0.007413 0 15 36 RFWD2 64326 broad.mit.edu 37 1 176133011 176133011 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:176133011A>G uc001gku.1 - 4 838 c.582T>C c.(580-582)CTT>CTC p.L194L RFWD2_uc001gkv.1_Silent_p.L194L|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Silent_p.L53L NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 194 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 GCTTCTGTTTAAGAATGAGTT 0.289 NaN 0 0 0 0.004672 0 2 7 PRG4 10216 broad.mit.edu 37 1 186280667 186280667 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:186280667G>A uc001gru.3 + 10 3783 c.3732G>A c.(3730-3732)GTG>GTA p.V1244V PRG4_uc001grt.3_Silent_p.V1203V|PRG4_uc009wyl.2_Silent_p.V1151V|PRG4_uc009wym.2_Silent_p.V1110V|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 1244 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 GACAAATAGTGGCAGCGCTTT 0.363 NaN 0 0 0 0.00308 0 7 16 CRB1 23418 broad.mit.edu 37 1 197390711 197390711 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:197390711G>C uc001gtz.2 + 6 1888 c.1753G>C c.(1753-1755)GAC>CAC p.D585H CRB1_uc010poz.1_Missense_Mutation_p.D516H|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.D473H|CRB1_uc010ppb.1_Missense_Mutation_p.D585H|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.D66H|CRB1_uc001gub.1_Missense_Mutation_p.D234H NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 585 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTTAATCGACGACTCCTGTAA 0.453 NaN 0 0 0 0.008871 0 20 24 SYT2 127833 broad.mit.edu 37 1 202569525 202569525 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:202569525C>T uc001gye.2 - 7 1072 c.879G>A c.(877-879)GAG>GAA p.E293E SYT2_uc010pqb.1_Silent_p.E293E|SYT2_uc009xaf.2_Silent_p.E123E NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 293 Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GGTTCTTAGCCTCCAGGATGC 0.617 NaN OREG0014101 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 56 55 CYB5R1 51706 broad.mit.edu 37 1 202935955 202935955 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:202935955C>T uc001gyt.2 - 2 158 c.87G>A c.(85-87)TTG>TTA p.L29L CYB5R1_uc010pqe.1_RNA NM_016243 NP_057327 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 29 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.141) ACCTCCGAACCAAGTAGGAGC 0.642 NaN 0 0 0 0.004482 0 9 37 REN 5972 broad.mit.edu 37 1 204124152 204124152 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:204124152C>T uc001haq.2 - 10 1257 c.1213G>A c.(1213-1215)GCC>ACC p.A405T ETNK2_uc001hao.3_5'Flank|ETNK2_uc001han.3_5'Flank|ETNK2_uc010pqs.1_5'Flank|ETNK2_uc010pqt.1_5'Flank NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 405 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CCTCAGCGGGCCAAGGCGAAG 0.647 NaN 0 0 0 0.00333 0 18 66 LRRN2 10446 broad.mit.edu 37 1 204587882 204587882 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:204587882G>A uc001hbe.1 - 3 1627 c.1239C>T c.(1237-1239)TTC>TTT p.F413F MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.F413F|LRRN2_uc009xbf.1_Silent_p.F413F|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 413 Extracellular (Potential).|LRRCT. cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCATCTCCCGGAAGGGCACCT 0.662 NaN 0 0 0 0.010504 0 20 67 CR1 1378 broad.mit.edu 37 1 207679368 207679369 + Missense_Mutation DNP CC CC GA TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:207679368_207679369CC>GA uc001hfy.2 + 2 381_382 c.241_242CC>GA c.(241-243)CCG>GAG p.P81E CR1_uc009xcl.1_Missense_Mutation_p.P81E|CR1_uc001hfx.2_Missense_Mutation_p.P81E|CR1_uc010psg.1_Missense_Mutation_p.P81E|CR1_uc009xcj.1_Missense_Mutation_p.P81E|CR1_uc009xck.1_Missense_Mutation_p.P81E NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 81 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTCCGGAAGACCGTTTTCTATC 0.47 NaN 0 0 0 0.004672 0 8 44 CD46 4179 broad.mit.edu 37 1 207930506 207930506 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:207930506G>A uc001hgc.2 + 2 401 c.245G>A c.(244-246)CGG>CAG p.R82Q CD46_uc001hgd.2_Missense_Mutation_p.R82Q|CD46_uc001hge.2_Missense_Mutation_p.R82Q|CD46_uc001hgf.2_Missense_Mutation_p.R82Q|CD46_uc001hgg.2_Missense_Mutation_p.R82Q|CD46_uc001hgh.2_Missense_Mutation_p.R82Q|CD46_uc001hgi.2_Missense_Mutation_p.R82Q|CD46_uc001hgj.2_Missense_Mutation_p.R82Q|CD46_uc001hgk.2_Missense_Mutation_p.R82Q|CD46_uc001hgl.2_Missense_Mutation_p.R82Q|CD46_uc001hgm.2_Missense_Mutation_p.R82Q|CD46_uc001hgn.2_Missense_Mutation_p.R82Q|CD46_uc001hgo.2_Missense_Mutation_p.R82Q|CD46_uc001hgp.2_Missense_Mutation_p.R82Q NM_002389 NP_002380 P15529 MCP_HUMAN CD46 antigen, complement regulatory protein 82 Extracellular (Potential).|Sushi 1. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity large_intestine(2)|lung(1)|central_nervous_system(1) 4 ATTTGTGATCGGAATCATACA 0.368 NaN 0 0 0 0.006999 0 31 29 FLVCR1 28982 broad.mit.edu 37 1 213032442 213032442 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:213032442C>T uc001hjt.2 + 1 846 c.648C>T c.(646-648)TTC>TTT p.F216F LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank NM_014053 NP_054772 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular 216 Helical; (Potential). cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) CCCAGGTGTTCATCCTGGGCT 0.607 NaN 0 0 0 0.00361 0 46 67 CDC42BPA 8476 broad.mit.edu 37 1 227259910 227259910 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:227259910C>T uc001hqr.2 - 20 3769 c.2826G>A c.(2824-2826)AAG>AAA p.K942K CDC42BPA_uc001hqq.2_Silent_p.K206K|CDC42BPA_uc001hqs.2_Silent_p.K861K|CDC42BPA_uc009xes.2_Silent_p.K942K|CDC42BPA_uc010pvs.1_Silent_p.K942K|CDC42BPA_uc001hqp.2_Silent_p.K98K|CDC42BPA_uc001hqu.1_Silent_p.K98K NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 942 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) CTCCCATACCCTTTTCAGATC 0.348 NaN 0 0 0 0.000978 0 8 18 KIAA1804 84451 broad.mit.edu 37 1 233512183 233512183 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:233512183C>A uc001hvt.3 + 8 2095 c.1834C>A c.(1834-1836)CCT>ACT p.P612T KIAA1804_uc001hvu.3_Missense_Mutation_p.P58T NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 612 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) TAGGATAAGACCTCTCTCCGA 0.378 NaN 1 0 0.000602214 0.000602 0.000615119 3 17 FH 2271 broad.mit.edu 37 1 241680601 241680601 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:241680601A>T uc001hyx.2 - 2 180 c.148T>A c.(148-150)TTC>ATC p.F50I NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 50 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) TCTATCCGGAAGGAATTTTGG 0.383 NaN Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 0 0 0 0.004672 0 3 16 PFKP 5214 broad.mit.edu 37 10 3162099 3162099 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:3162099C>T uc001igp.2 + 16 1582 c.1546C>T c.(1546-1548)CTG>TTG p.L516L PFKP_uc001igq.2_Silent_p.L508L|PFKP_uc009xhr.2_Silent_p.L478L|PFKP_uc009xhs.1_Silent_p.L300L|PFKP_uc009xht.2_Silent_p.L254L|PFKP_uc009xhu.2_Silent_p.L22L NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 516 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) CCTGGGACTCCTGGAGCTGTC 0.632 NaN OREG0019976 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 72 175 ITIH5 80760 broad.mit.edu 37 10 7621948 7621948 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:7621948C>A uc001ijq.2 - 9 1267 c.1188G>T c.(1186-1188)CGG>CGT p.R396R ITIH5_uc001ijp.2_Silent_p.R182R|ITIH5_uc001ijr.1_Silent_p.R396R NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 396 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GGGACACGCTCCGGTCTCCAA 0.632 NaN 1 0 8.20599e-20 0.002852 9.07311e-20 44 38 PRPF18 8559 broad.mit.edu 37 10 13655788 13655788 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:13655788T>C uc001imp.2 + 7 775 c.627T>C c.(625-627)TAT>TAC p.Y209Y PRPF18_uc001imq.2_Intron NM_003675 NP_003666 Q99633 PRP18_HUMAN PRP18 pre-mRNA processing factor 18 homolog 209 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1) 1 GAGAAGATTATGTGAAACGCA 0.453 NaN 0 0 0 0.000978 0 10 41 ZNF485 220992 broad.mit.edu 37 10 44112556 44112556 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:44112556G>A uc010qfc.1 + 5 1259 c.1065G>A c.(1063-1065)CAG>CAA p.Q355Q ZNF485_uc010qfd.1_Silent_p.Q264Q NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 355 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AACCGTATCAGTGTCGTGACT 0.428 NaN 0 0 0 0.008871 0 17 69 SYT15 83849 broad.mit.edu 37 10 46969378 46969378 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:46969378A>G uc001jea.2 - 2 236 c.83T>C c.(82-84)CTG>CCG p.L28P SYT15_uc001jdz.2_Missense_Mutation_p.L28P|SYT15_uc001jeb.2_Intron|SYT15_uc010qfp.1_5'Flank NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 28 Helical; Signal-anchor for type III membrane protein; (Potential). integral to membrane|plasma membrane 0 CCTTCTCCACAGACAGCAGCT 0.652 NaN 0 0 0 0.00361 0 55 162 NRBF2 29982 broad.mit.edu 37 10 64911926 64911926 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:64911926C>G uc001jmj.3 + 3 356 c.132C>G c.(130-132)GCC>GCG p.A44A NRBF2_uc010qip.1_Silent_p.A34A NM_030759 NP_110386 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 44 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding 0 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTCTGAAGCCATGAAGCTGA 0.353 NaN 0 0 0 0.008291 0 8 43 CDH23 64072 broad.mit.edu 37 10 73574769 73574769 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:73574769C>T uc001jrx.3 + 68 10176 c.9799C>T c.(9799-9801)CGC>TGC p.R3267C CDH23_uc001jsg.3_Missense_Mutation_p.R1027C|CDH23_uc001jsh.3_Missense_Mutation_p.R992C|CDH23_uc001jsi.3_Missense_Mutation_p.R992C|CDH23_uc001jsj.3_Missense_Mutation_p.R164C|CDH23_uc010qjr.1_Missense_Mutation_p.R129C NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3267 Cytoplasmic (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGGTAGCCTGCGCTTCCGCCA 0.667 NaN 0 0 0 0.006122 0 15 86 CAMK2G 818 broad.mit.edu 37 10 75634270 75634270 + Translation_Start_Site SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:75634270C>T uc001jvv.1 - 1 74 c.-50G>A c.(-52--48)CTGTG>CTATG CAMK2G_uc001jvm.1_Translation_Start_Site|CAMK2G_uc001jvo.1_Translation_Start_Site|CAMK2G_uc001jvq.1_Translation_Start_Site|CAMK2G_uc001jvr.1_Translation_Start_Site|CAMK2G_uc001jvp.1_Translation_Start_Site|CAMK2G_uc001jvs.1_Translation_Start_Site|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Translation_Start_Site|CAMK2G_uc010qkv.1_Translation_Start_Site NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) CGTCGGTGCACAGTCACCGCC 0.721 NaN 0 0 0 0.000978 0 8 27 PLCE1 51196 broad.mit.edu 37 10 96025625 96025625 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:96025625C>T uc001kjk.2 + 16 4825 c.4191C>T c.(4189-4191)CCC>CCT p.P1397P PLCE1_uc010qnx.1_Silent_p.P1381P|PLCE1_uc001kjm.2_Silent_p.P1089P NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1397 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TGCAGCTACCCCTCTCATACT 0.413 NaN 0 0 0 0.007413 0 18 4 PDZD8 118987 broad.mit.edu 37 10 119044045 119044045 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:119044045A>T uc001lde.1 - 5 2398 c.2199T>A c.(2197-2199)AGT>AGA p.S733R NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 733 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) CAAGTTTTAAACTAACATGCC 0.438 NaN 0 0 0 0.00245 0 12 4 MKI67 4288 broad.mit.edu 37 10 129903242 129903242 + Nonsense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:129903242G>A uc001lke.2 - 13 7057 c.6862C>T c.(6862-6864)CAG>TAG p.Q2288* MKI67_uc001lkf.2_Nonsense_Mutation_p.Q1928*|MKI67_uc009yav.1_Nonsense_Mutation_p.Q1863*|MKI67_uc009yaw.1_Nonsense_Mutation_p.Q1438* NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2288 16 X 122 AA approximate repeats.|11. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCCAATTTCTGCACTGGAGTT 0.483 NaN 0 0 0 0.00361 0 45 20 GPR123 84435 broad.mit.edu 37 10 134912182 134912182 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:134912182T>A uc001llx.3 + 4 606 c.170T>A c.(169-171)CTG>CAG p.L57Q GPR123_uc001llw.2_Missense_Mutation_p.L777Q NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 57 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CACACGCTCCTGAATTTCTGC 0.652 NaN 0 0 0 0.00361 0 88 45 NLRP6 171389 broad.mit.edu 37 11 285201 285201 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:285201A>G uc010qvs.1 + 8 2576 c.2576A>G c.(2575-2577)CAG>CGG p.Q859R NLRP6_uc010qvt.1_Missense_Mutation_p.Q858R NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 859 LRR 5. cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CAGTCACTACAGGAGCTTCAG 0.622 NaN 0 0 0 0.006214 0 7 14 CARS 833 broad.mit.edu 37 11 3026647 3026647 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:3026647C>T uc001lxh.2 - 19 1991 c.1917G>A c.(1915-1917)GTG>GTA p.V639V CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Silent_p.V629V|CARS_uc001lxf.2_Silent_p.V722V|CARS_uc001lxg.2_Silent_p.V639V|CARS_uc010qxo.1_Silent_p.V722V|CARS_uc010qxp.1_Silent_p.V652V NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 639 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTACCAGTTTCACCACTGTGG 0.408 NaN T ALK ALCL 0 0 0 0.003755 0 30 39 OR52N5 390075 broad.mit.edu 37 11 5799737 5799737 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:5799737T>A uc010qzn.1 - 1 128 c.128A>T c.(127-129)TAC>TTC p.Y43F TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GAAGATGATGTACATTGTGCA 0.408 NaN 0 0 0 0.00361 0 44 36 RRP8 23378 broad.mit.edu 37 11 6621449 6621449 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:6621449C>T uc001med.2 - 7 1377 c.1298G>A c.(1297-1299)GGG>GAG p.G433E NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 433 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 CAGAGGGGGCCCAGTCTTTTG 0.522 NaN 0 0 0 0.007291 0 24 21 DCHS1 8642 broad.mit.edu 37 11 6652344 6652344 + Silent SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:6652344T>A uc001mem.1 - 9 4280 c.3870A>T c.(3868-3870)ACA>ACT p.T1290T NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1290 Cadherin 12.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCACTCAGTGTCAGCACAT 0.622 NaN 0 0 0 0.004007 0 13 21 E2F8 79733 broad.mit.edu 37 11 19253864 19253864 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:19253864A>G uc001mpm.2 - 7 1505 c.983T>C c.(982-984)ATC>ACC p.I328T E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I328T NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 328 Potential. cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 AACTTTCTTGATAAGATCCAG 0.358 NaN 0 0 0 0.003755 0 31 21 CRY2 1408 broad.mit.edu 37 11 45891186 45891186 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:45891186C>T uc010rgn.1 + 7 1097 c.1075C>T c.(1075-1077)CCC>TCC p.P359S CRY2_uc009ykw.2_Missense_Mutation_p.P277S|CRY2_uc010rgo.1_Missense_Mutation_p.P81S NM_021117 NP_066940 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) isoform 1 338 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding central_nervous_system(1) 1 CATCCAGATCCCCTGGGACCG 0.587 NaN 0 0 0 0.00361 0 43 161 OR4A16 81327 broad.mit.edu 37 11 55111294 55111294 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:55111294G>A uc010rie.1 + 1 618 c.618G>A c.(616-618)ATG>ATA p.M206I NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TAATTTGTATGGTCATCTTTA 0.438 NaN 0 0 0 0.00245 0 15 86 HRASLS5 117245 broad.mit.edu 37 11 63233662 63233662 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:63233662T>C uc001nwy.2 - 5 841 c.667A>G c.(667-669)ATC>GTC p.I223V HRASLS5_uc001nwz.2_Missense_Mutation_p.I213V|HRASLS5_uc010rmq.1_Missense_Mutation_p.I223V|HRASLS5_uc009yos.2_RNA NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 isoform 1 223 ovary(1) 1 TACTGCACGATCTTGTTGACC 0.527 NaN 0 0 0 0.006122 0 17 46 PRDX5 25824 broad.mit.edu 37 11 64085714 64085714 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:64085714G>A uc001nzu.2 + 1 146 c.27G>A c.(25-27)CTG>CTA p.L9L TRMT112_uc001nzt.2_5'Flank|PRDX5_uc001nzv.2_Silent_p.L9L|PRDX5_uc001nzw.2_Silent_p.L9L|PRDX5_uc001nzx.2_5'Flank NM_012094 NP_036226 P30044 PRDX5_HUMAN peroxiredoxin 5 isoform a precursor 9 cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis cytosolic part|mitochondrion|peroxisome caspase inhibitor activity|peroxidase activity|peroxiredoxin activity breast(1) 1 Auranofin(DB00995) TGTGCGCCCTGAGACGCTCAG 0.701 NaN 0 0 0 0.002445 0 26 95 NRXN2 9379 broad.mit.edu 37 11 64480980 64480980 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:64480980C>A uc001oar.2 - 3 631 c.192G>T c.(190-192)GCG>GCT p.A64A NRXN2_uc001oas.2_Silent_p.A64A NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor 130 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 AGAGCAGCAGCGCGCGCGTGG 0.751 NaN 1 0 2.35188e-11 0.006122 2.52239e-11 13 5 DKFZp761E198 91056 broad.mit.edu 37 11 65547232 65547232 + Silent SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:65547232T>A uc001ofo.3 - 1 591 c.561A>T c.(559-561)GCA>GCT p.A187A NM_138368 NP_612377 Q2VPB7 YK046_HUMAN hypothetical protein LOC91056 187 Leu-rich. protein binding 0 READ - Rectum adenocarcinoma(159;0.167) CCTCCTCAGCTGCCGGCCAGC 0.662 NaN 0 0 0 0.00361 0 141 115 B3GNT1 11041 broad.mit.edu 37 11 66114948 66114948 + Silent SNP C C G rs146812867 byFrequency TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:66114948C>G uc001ohr.2 - 1 214 c.69G>C c.(67-69)GCG>GCC p.A23A BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank NM_006876 NP_006867 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal 23 Helical; Signal-anchor for type II membrane protein; (Potential). poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity 0 GCTGCAGCATCGCCACCAGCA 0.647 NaN 0 0 0 0.00499 0 17 23 TCIRG1 10312 broad.mit.edu 37 11 67816717 67816717 + Missense_Mutation SNP C C T rs141780643 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:67816717C>T uc001one.2 + 15 1951 c.1843C>T c.(1843-1845)CTC>TTC p.L615F TCIRG1_uc001ong.2_Missense_Mutation_p.L399F|TCIRG1_uc001onh.2_Missense_Mutation_p.L317F|TCIRG1_uc001oni.2_Missense_Mutation_p.L119F|TCIRG1_uc009ysd.2_5'Flank NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 615 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 CAACATGTTCCTCTTCTCCCA 0.657 NaN 0 0 0 0.00361 0 51 175 LRP5 4041 broad.mit.edu 37 11 68207303 68207303 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:68207303G>T uc001ont.2 + 21 4482 c.4407G>T c.(4405-4407)GGG>GGT p.G1469G LRP5_uc009ysg.2_Silent_p.G879G NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1469 Cytoplasmic (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 GCCGGGGCGGGGTGCCCCTCT 0.632 NaN 1 0 9.45814e-24 0.004878 1.05391e-23 28 28 MYO7A 4647 broad.mit.edu 37 11 76915135 76915135 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:76915135A>G uc001oyb.2 + 39 5613 c.5341A>G c.(5341-5343)ATG>GTG p.M1781V MYO7A_uc001oyc.2_Missense_Mutation_p.M1743V|MYO7A_uc001oye.2_RNA NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1781 MyTH4 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 GCTCAAGTACATGGGCGACTA 0.617 NaN 0 0 0 0.000602 0 4 13 MLL 4297 broad.mit.edu 37 11 118368671 118368671 + Nonsense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 T G T T Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:118368671T>G uc001pta.2 + 21 5699 c.5676T>G c.(5674-5676)TAT>TAG p.Y1892* MLL_uc001ptb.2_Nonsense_Mutation_p.Y1895* NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1892 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTTTACTATATATTGGCCAAA 0.378 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.003163 0 13 27 HSPA8 3312 broad.mit.edu 37 11 122929417 122929417 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:122929417G>A uc001pyo.2 - 7 1523 c.1445C>T c.(1444-1446)GCC>GTC p.A482V HSPA8_uc009zbc.2_Missense_Mutation_p.A246V|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Missense_Mutation_p.A405V NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 482 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TATACCATTGGCATCAATGTC 0.448 NaN 0 0 0 0.009535 0 29 35 WNK1 65125 broad.mit.edu 37 12 989117 989117 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:989117G>T uc001qio.3 + 11 3259 c.2752G>T c.(2752-2754)GCA>TCA p.A918S WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 918 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCTACAACCAGCAGTTCAGTC 0.512 NaN 1 0 3.86236e-30 0.00361 4.3604e-30 39 41 WNK1 65125 broad.mit.edu 37 12 994164 994164 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:994164C>T uc001qio.3 + 19 4701 c.4194C>T c.(4192-4194)CTC>CTT p.L1398L WNK1_uc001qip.3_Silent_p.L1151L|WNK1_uc001qir.3_Silent_p.L571L NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1398 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAGGTGGTCTCCCCATACCAC 0.478 NaN 0 0 0 0.004878 0 34 34 SCNN1A 6337 broad.mit.edu 37 12 6471317 6471317 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:6471317T>C uc001qnx.2 - 4 1064 c.775A>G c.(775-777)ATC>GTC p.I259V SCNN1A_uc001qnv.2_5'UTR|SCNN1A_uc001qnw.2_Missense_Mutation_p.I318V|SCNN1A_uc010sfb.1_Missense_Mutation_p.I282V NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 259 Extracellular (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) CTCGACAGGATGTTGATGTAG 0.572 NaN 0 0 0 0.002096 0 29 91 NECAP1 25977 broad.mit.edu 37 12 8245362 8245362 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:8245362C>G uc001qtx.2 + 5 552 c.474C>G c.(472-474)ACC>ACG p.T158T NECAP1_uc001qty.2_Silent_p.T16T NM_015509 NP_056324 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 158 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane ovary(1) 1 Kidney(36;0.0915) AAGGACAAACCATCAAGTTGT 0.403 NaN 0 0 0 0.001368 0 9 13 KIF21A 55605 broad.mit.edu 37 12 39763563 39763563 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:39763563G>T uc001rly.2 - 3 564 c.418C>A c.(418-420)CCA>ACA p.P140T KIF21A_uc001rlx.2_Missense_Mutation_p.P140T|KIF21A_uc001rlz.2_Missense_Mutation_p.P140T|KIF21A_uc010skl.1_Missense_Mutation_p.P140T|KIF21A_uc001rma.1_Missense_Mutation_p.P140T NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 140 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TTAAAATCTGGAGCAGGAAGC 0.299 NaN 1 0 2.56e-06 0.009096 2.64e-06 4 8 NELL2 4753 broad.mit.edu 37 12 44917077 44917077 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:44917077A>G uc001rog.2 - 17 2590 c.1995T>C c.(1993-1995)TGT>TGC p.C665C NELL2_uc001rof.3_Silent_p.C664C|NELL2_uc001roh.2_Silent_p.C665C|NELL2_uc009zkd.2_Silent_p.C617C|NELL2_uc010skz.1_Silent_p.C715C|NELL2_uc010sla.1_Silent_p.C688C|NELL2_uc001roi.1_Silent_p.C665C NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 665 VWFC 3. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TACCAACCTGACATGAGCACA 0.259 NaN 0 0 0 0.004289 0 35 65 ARID2 196528 broad.mit.edu 37 12 46287258 46287258 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 A T A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:46287258A>T uc001ros.1 + 19 5203 c.5203A>T c.(5203-5205)AAT>TAT p.N1735Y ARID2_uc001ror.2_Missense_Mutation_p.N1735Y|ARID2_uc009zkg.1_Missense_Mutation_p.N1191Y|ARID2_uc009zkh.1_Missense_Mutation_p.N1362Y|ARID2_uc001rou.1_Missense_Mutation_p.N1069Y NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1735 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGCCATTGTGAATCATCCCAG 0.393 NaN 0 0 0 0.009096 0 3 20 DHH 50846 broad.mit.edu 37 12 49488197 49488197 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:49488197G>A uc001rtf.2 - 1 406 c.99C>T c.(97-99)CGC>CGT p.R33R NM_021044 NP_066382 O43323 DHH_HUMAN desert hedgehog preproprotein 33 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding lung(1)|breast(1) 2 GCGCATAGCGGCGCCGGCCAA 0.602 NaN 0 0 0 0.000978 0 11 26 ZNF385A 25946 broad.mit.edu 37 12 54765302 54765302 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:54765302T>C uc001sfw.1 - 4 742 c.559A>G c.(559-561)AAG>GAG p.K187E ZNF385A_uc001sfv.1_Missense_Mutation_p.K168E|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.K187E|ZNF385A_uc001sfy.3_Missense_Mutation_p.K207E|ZNF385A_uc001sfz.3_Intron NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 187 Matrin-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 ACAGCCACCTTGCACAGAGCA 0.612 NaN 0 0 0 0.00361 0 96 83 ZC3H10 84872 broad.mit.edu 37 12 56515604 56515604 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:56515604T>C uc001sjp.1 + 3 1447 c.1258T>C c.(1258-1260)TAC>CAC p.Y420H NM_032786 NP_116175 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 420 nucleic acid binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.12) CATGGTGACTTACCCTATCGC 0.602 NaN 0 0 0 0.00361 0 45 31 LRP1 4035 broad.mit.edu 37 12 57572754 57572754 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:57572754G>T uc001snd.2 + 28 5154 c.4688G>T c.(4687-4689)TGC>TTC p.C1563F NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1563 EGF-like 7.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACCGTGTCCTGCGCCTGCCCC 0.632 NaN 1 0 1.39691e-52 0.00361 1.62405e-52 87 119 LRP1 4035 broad.mit.edu 37 12 57598266 57598266 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:57598266C>T uc001snd.2 + 71 11491 c.11025C>T c.(11023-11025)GGC>GGT p.G3675G NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3675 Extracellular (Potential).|LDL-receptor class A 29. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGTGCGATGGCGAGGATGACT 0.632 NaN 0 0 0 0.002836 0 30 107 MBD6 114785 broad.mit.edu 37 12 57919889 57919889 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:57919889G>C uc001soj.1 + 6 1362 c.1138G>C c.(1138-1140)GGC>CGC p.G380R MBD6_uc001sok.1_Missense_Mutation_p.G247R|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 380 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 AGAAGGGAGAGGCCCTCAAAC 0.617 NaN 0 0 0 0.00361 0 77 77 USP15 9958 broad.mit.edu 37 12 62785202 62785202 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:62785202G>A uc001src.1 + 16 2235 c.2226G>A c.(2224-2226)AGG>AGA p.R742R USP15_uc001srb.1_Silent_p.R713R NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 742 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GGCAGCTTAGGCTAGATGGTA 0.343 NaN 0 0 0 0.00278 0 17 9 WIF1 11197 broad.mit.edu 37 12 65514281 65514281 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:65514281A>G uc001ssk.2 - 2 349 c.204T>C c.(202-204)CAT>CAC p.H68H NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 68 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TTCTGAAATCATGTGTAAAAG 0.378 NaN T HMGA2 pleomorphic salivary gland adenoma 0 0 0 0.004656 0 20 19 TMBIM4 51643 broad.mit.edu 37 12 66531850 66531850 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:66531850G>A uc001stc.2 - 7 683 c.607C>T c.(607-609)CAT>TAT p.H203Y LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.H172Y|TMBIM4_uc009zqr.2_Missense_Mutation_p.H250Y|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR NM_016056 NP_057140 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 203 integral to membrane protein binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(28;0.0745) GACAGTTTATGCATCAGTGAG 0.413 NaN 0 0 0 0.008291 0 8 33 LYZ 4069 broad.mit.edu 37 12 69746950 69746950 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:69746950G>A uc001suw.2 + 4 453 c.398G>A c.(397-399)CGT>CAT p.R133H NM_000239 NP_000230 P61626 LYSC_HUMAN lysozyme precursor 133 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding 0 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) TGGAGAAATCGTTGTCAAAAC 0.398 NaN 0 0 0 0.002836 0 27 40 ALX1 8092 broad.mit.edu 37 12 85694982 85694982 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:85694982C>A uc001tae.3 + 4 714 c.710C>A c.(709-711)ACT>AAT p.T237N NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 237 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) TCTGTGGTTACTTCATGCATG 0.408 NaN 1 0 1.04594e-18 0.00623 1.15349e-18 30 39 PAH 5053 broad.mit.edu 37 12 103246694 103246694 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:103246694G>A uc001tjq.1 - 8 1213 c.741C>T c.(739-741)GGC>GGT p.G247G NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 247 G -> V (in PKU; haplotype 4). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) AGGAAAGCAGGCCAGCCACAG 0.537 NaN 0 0 0 0.003163 0 11 18 FICD 11153 broad.mit.edu 37 12 108912880 108912880 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:108912880A>G uc001tmx.1 + 3 1151 c.1005A>G c.(1003-1005)GTA>GTG p.V335V NM_007076 NP_009007 Q9BVA6 FICD_HUMAN Huntingtin interacting protein E 335 Fido. negative regulation of Rho GTPase activity integral to membrane binding|protein adenylyltransferase activity 0 AGGAGTTTGTACAGTGGCTCA 0.542 NaN 0 0 0 0.003214 0 43 38 CIT 11113 broad.mit.edu 37 12 120288005 120288006 + Missense_Mutation DNP GG GG TT TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:120288005_120288006GG>TT uc001txi.1 - 5 541_542 c.488_489CC>AA c.(487-489)GCC>GAA p.A163E CIT_uc001txj.1_Missense_Mutation_p.A163E NM_007174 NP_009105 O14578 CTRO_HUMAN citron 163 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGTCCTGAAAGGCATACTGTAA 0.426 NaN 0 0 0 0.004672 0 60 75 KDM2B 84678 broad.mit.edu 37 12 121947735 121947735 + Nonsense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:121947735C>A uc001uat.2 - 11 1386 c.1282G>T c.(1282-1284)GAG>TAG p.E428* KDM2B_uc001uar.2_Nonsense_Mutation_p.E19*|KDM2B_uc001uas.2_Nonsense_Mutation_p.E397*|KDM2B_uc001uau.2_Nonsense_Mutation_p.E311*|KDM2B_uc001uav.3_Nonsense_Mutation_p.E338* NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 428 Glu-rich. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CCCTCGCcctcctcgtccttc 0.562 NaN 1 0 4.14922e-12 0.004007 4.4724e-12 12 34 BRI3BP 140707 broad.mit.edu 37 12 125497182 125497182 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:125497182G>A uc001uha.1 + 2 459 c.316G>A c.(316-318)GTC>ATC p.V106I NM_080626 NP_542193 Q8WY22 BRI3B_HUMAN BRI3-binding protein 106 integral to membrane|mitochondrial outer membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TGGACTTGACGGTAGGTGTAG 0.488 NaN 0 0 0 0.009535 0 25 112 ATP8A2 51761 broad.mit.edu 37 13 26129158 26129158 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:26129158C>A uc001uqk.2 + 13 1357 c.1215C>A c.(1213-1215)GAC>GAA p.D405E ATP8A2_uc010tdi.1_Missense_Mutation_p.D365E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.D365E NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 365 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TAGGAAATGACACTCCTGCCA 0.408 NaN 1 0 2.74318e-10 0.006214 2.92016e-10 7 22 KL 9365 broad.mit.edu 37 13 33628356 33628356 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:33628356G>C uc001uus.2 + 2 1280 c.1272G>C c.(1270-1272)AAG>AAC p.K424N KL_uc001uur.1_Missense_Mutation_p.K117N NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 424 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GGACCACCAAGAGAGATGATG 0.393 NaN 0 0 0 0.00333 0 22 19 HTR2A 3356 broad.mit.edu 37 13 47409473 47409473 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:47409473G>A uc001vbq.2 - 3 1049 c.915C>T c.(913-915)TCC>TCT p.S305S HTR2A_uc001vbr.2_Silent_p.S205S|HTR2A_uc010acr.2_Silent_p.S305S NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 305 Cytoplasmic (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGCCTGTGTAGGACCCTGGCT 0.522 NaN 0 0 0 0.001168 0 6 4 RB1 5925 broad.mit.edu 37 13 49050846 49050846 + Nonsense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 A T A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:49050846A>T uc001vcb.2 + 25 2696 c.2530A>T c.(2530-2532)AAG>TAG p.K844* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 844 Interaction with LIMD1.|Domain C; mediates interaction with E4F1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GACTTCTGAGAAGTTCCAGAA 0.363 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 0.001984 0 5 4 DCT 1638 broad.mit.edu 37 13 95117984 95117984 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:95117984C>T uc001vlv.3 - 4 1193 c.766G>A c.(766-768)GTG>ATG p.V256M DCT_uc010afh.2_Missense_Mutation_p.V256M NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 256 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TCTGTACACACATCACACTCG 0.493 NaN 0 0 0 0.004656 0 20 40 IPO5 3843 broad.mit.edu 37 13 98641409 98641409 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:98641409A>G uc001vnf.1 + 4 523 c.458A>G c.(457-459)CAC>CGC p.H153R IPO5_uc001vne.2_Missense_Mutation_p.H171R|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.H93R NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 153 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 GCTGCCCTTCACATTTTCTGG 0.373 NaN 0 0 0 0.000978 0 10 10 EFNB2 1948 broad.mit.edu 37 13 107145643 107145643 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:107145643C>T uc001vqi.2 - 5 772 c.747G>A c.(745-747)TTG>TTA p.L249L NM_004093 NP_004084 P52799 EFNB2_HUMAN ephrin B2 precursor 249 Helical; (Potential). cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding ovary(1) 1 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) GGTACTTCAGCAAGAGGACCA 0.522 NaN 0 0 0 0.00361 0 57 111 OR4M1 441670 broad.mit.edu 37 14 20249060 20249060 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:20249060C>G uc010tku.1 + 1 579 c.579C>G c.(577-579)TTC>TTG p.F193L NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCAACACCTTCCCAGAGGAGT 0.478 NaN 0 0 0 0.003755 0 28 82 SUPT16H 11198 broad.mit.edu 37 14 21834657 21834657 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:21834657G>T uc001wao.2 - 8 1326 c.987C>A c.(985-987)GTC>GTA p.V329V NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 329 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CCACGTCCATGACAGCGTTAT 0.348 NaN 1 0 4.7546e-09 0.004007 4.97494e-09 12 85 EFS 10278 broad.mit.edu 37 14 23826494 23826494 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:23826494T>A uc001wjo.2 - 6 2235 c.1627A>T c.(1627-1629)ACA>TCA p.T543S EFS_uc001wjp.2_Missense_Mutation_p.T450S|EFS_uc010tnm.1_Missense_Mutation_p.T374S NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 543 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCCAGTTCTGTTACACACTGC 0.612 NaN 0 0 0 0.004289 0 31 101 DHRS4L1 728635 broad.mit.edu 37 14 24518021 24518021 + Splice_Site SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:24518021G>C uc010alc.2 + 8 675 c.675_splice c.e8+1 p.M225_splice DHRS4L1_uc010tnu.1_Splice_Site NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 binding|oxidoreductase activity 0 CAGCAGGATGGTGAGGAAGGG 0.547 NaN 0 0 0 0.00632 0 17 109 RALGAPA1 253959 broad.mit.edu 37 14 36277976 36277976 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:36277976C>T uc001wti.2 - 1 457 c.66G>A c.(64-66)AAG>AAA p.K22K RALGAPA1_uc001wtj.2_Silent_p.K22K|RALGAPA1_uc010tpv.1_Silent_p.K22K|RALGAPA1_uc010tpw.1_Silent_p.K22K NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 22 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TCAGTGCGTCCTTCTTGGTGT 0.557 NaN 0 0 0 0.004289 0 28 25 SSTR1 6751 broad.mit.edu 37 14 38679681 38679681 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:38679681T>C uc001wul.1 + 3 1704 c.1087T>C c.(1087-1089)TAC>CAC p.Y363H SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 363 Cytoplasmic (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 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;0.00444) Octreotide(DB00104) GAGCCGTGCCTACAGTGTGGA 0.617 NaN 0 0 0 0.00361 0 118 62 SYNE2 23224 broad.mit.edu 37 14 64408416 64408416 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:64408416A>G uc001xgm.2 + 4 375 c.145A>G c.(145-147)ACT>GCT p.T49A SYNE2_uc001xgk.2_Missense_Mutation_p.T49A|SYNE2_uc001xgl.2_Missense_Mutation_p.T49A NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 49 CH 1.|Cytoplasmic (Potential).|Actin-binding. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCTGCAGCACACTTCTCCCTC 0.373 NaN 0 0 0 0.004482 0 7 42 C14orf50 145376 broad.mit.edu 37 14 65031546 65031546 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:65031546C>T uc001xhl.1 + 4 356 c.260C>T c.(259-261)GCT>GTT p.A87V NM_172365 NP_758953 Q96LQ0 CN050_HUMAN hypothetical protein LOC145376 87 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488) GATGGTCCAGCTTCAGACAGG 0.408 NaN 0 0 0 0.00361 0 41 67 PLEKHG3 26030 broad.mit.edu 37 14 65203599 65203599 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:65203599C>G uc001xho.1 + 13 1643 c.1374C>G c.(1372-1374)CTC>CTG p.L458L PLEKHG3_uc001xhn.1_Silent_p.L402L|PLEKHG3_uc001xhp.2_Silent_p.L458L|PLEKHG3_uc010aqh.1_5'UTR|PLEKHG3_uc001xhq.1_5'Flank NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 458 QGRRQSEPTKHLLRQLNEKARAAGMK -> KGAGPEPPGSE EEEEEQEESLAVAEQ (in Ref. 2; AAH04298). 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) TCAGGCAACTCAACGAGAAAG 0.617 NaN 0 0 0 0.002836 0 27 84 FUT8 2530 broad.mit.edu 37 14 66028339 66028339 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:66028339A>C uc001xin.2 + 3 1255 c.58A>C c.(58-60)ACC>CCC p.T20P FUT8_uc001xio.2_Missense_Mutation_p.T20P|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T20P|FUT8_uc001xiq.2_Intron NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 20 Helical; Signal-anchor for type II membrane protein; (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TGCCTGGGGGACCTTGCTGTT 0.473 NaN 0 0 0 0.00361 0 70 52 ZFYVE26 23503 broad.mit.edu 37 14 68233024 68233024 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:68233024G>A uc001xka.2 - 32 6070 c.5931C>T c.(5929-5931)GAC>GAT p.D1977D ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.D1977D NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1977 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCTTCATGATGTCCGTGAGCA 0.587 NaN 0 0 0 0.00361 0 45 128 HEATR4 399671 broad.mit.edu 37 14 73964942 73964942 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:73964942G>T uc010tub.1 - 14 2785 c.2463C>A c.(2461-2463)ATC>ATA p.I821I HEATR4_uc010tua.1_Silent_p.I774I NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TCAGGGCTAGGATGCTACGGC 0.537 NaN 1 0 4.65686e-17 0.003755 5.10945e-17 29 22 ATXN3 4287 broad.mit.edu 37 14 92555135 92555135 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:92555135C>G uc001yac.3 - 6 483 c.414G>C c.(412-414)ACG>ACC p.T138T ATXN3_uc010aug.2_Silent_p.T123T|ATXN3_uc001yad.3_Silent_p.T83T|ATXN3_uc010auh.2_Silent_p.T72T|ATXN3_uc001yae.3_Silent_p.T40T|ATXN3_uc010twl.1_RNA NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 138 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) ATTCTGGACCCGTCAAGAGAG 0.318 NaN 0 0 0 0.00361 0 59 43 BCL11B 64919 broad.mit.edu 37 14 99723962 99723962 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:99723962C>T uc001yga.2 - 2 540 c.273G>A c.(271-273)AAG>AAA p.K91K BCL11B_uc001ygb.2_Silent_p.K91K NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 91 nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TGTCCAGGGCCTTGTCATAGC 0.587 NaN T TLX3 T-ALL 0 0 0 0.00361 0 131 84 RTL1 388015 broad.mit.edu 37 14 101351019 101351019 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:101351019G>A uc010txj.1 - 1 166 c.107C>T c.(106-108)ACG>ATG p.T36M uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 36 pancreas(1) 1 ACTGCCCGACGTCGCCTCGGT 0.587 NaN 0 0 0 0.00499 0 12 41 HSP90AA1 3320 broad.mit.edu 37 14 102605682 102605682 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:102605682C>T uc001ykv.3 - 1 405 c.60G>A c.(58-60)AGG>AGA p.R20R WDR20_uc001yky.1_5'Flank|WDR20_uc001yla.2_5'Flank|WDR20_uc001ykz.2_5'Flank|WDR20_uc001ylb.2_5'Flank|WDR20_uc010txu.1_5'Flank|WDR20_uc001ylc.2_5'Flank|WDR20_uc001yld.2_5'Flank|WDR20_uc001yle.2_5'Flank|WDR20_uc001ylf.2_5'Flank NM_001017963 NP_001017963 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 1 Error:Variant_position_missing_in_P07900_after_alignment axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) CGGGACAGTCCCTGTCCCGAA 0.706 NaN 0 0 0 0.00333 0 24 11 FMN1 342184 broad.mit.edu 37 15 33360066 33360066 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:33360066G>A uc001zhf.3 - 1 20 c.20C>T c.(19-21)TCT>TTT p.S7F FMN1_uc001zhg.2_Missense_Mutation_p.S7F NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:Variant_position_missing_in_Q68DA7_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GCCATCCAGAGAATTATCAAC 0.468 NaN 0 0 0 0.008291 0 8 26 ACTC1 70 broad.mit.edu 37 15 35084467 35084467 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:35084467A>G uc001ziu.1 - 5 875 c.632T>C c.(631-633)GTC>GCC p.V211A uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 211 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AATGTCACGGACAATTTCACG 0.468 NaN 0 0 0 0.001855 0 12 8 MYO5C 55930 broad.mit.edu 37 15 52534274 52534274 + Nonsense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:52534274C>A uc010bff.2 - 20 2664 c.2527G>T c.(2527-2529)GGA>TGA p.G843* MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 843 IQ 4. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) GCCAGGAATCCTCGGCTGTAG 0.547 NaN 1 0 1.44639e-49 0.00361 1.67251e-49 93 100 PIGB 9488 broad.mit.edu 37 15 55632964 55632964 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:55632964C>T uc002act.2 + 8 1317 c.1001C>T c.(1000-1002)GCA>GTA p.A334V PIGB_uc010ugg.1_Missense_Mutation_p.A139V NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 334 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) TGCTATCTAGCACCAAAGAGA 0.378 NaN 0 0 0 0.000602 0 4 5 MYO1E 4643 broad.mit.edu 37 15 59548521 59548521 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:59548521G>A uc002aga.2 - 4 666 c.294C>T c.(292-294)AAC>AAT p.N98N NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 98 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) CAATGATCATGTTTCTGTACA 0.343 NaN 0 0 0 0.001855 0 10 26 PPCDC 60490 broad.mit.edu 37 15 75336745 75336745 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:75336745G>A uc002azo.2 + 4 363 c.250G>A c.(250-252)GAC>AAC p.D84N NM_021823 NP_068595 Q96CD2 COAC_HUMAN phosphopantothenoylcysteine decarboxylase 84 coenzyme A biosynthetic process|pantothenate metabolic process cytosol phosphopantothenoylcysteine decarboxylase activity 0 GAGCCGCTCTGACCCAGTTCT 0.587 NaN 0 0 0 0.00361 0 44 36 MTHFS 10588 broad.mit.edu 37 15 80137594 80137594 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:80137594C>A uc002bex.3 - 3 610 c.570G>T c.(568-570)ATG>ATT p.M190I MTHFS_uc002bey.2_RNA NM_006441 NP_006432 P49914 MTHFS_HUMAN 5,10-methenyltetrahydrofolate synthetase 190 folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process cytosol|Golgi apparatus|plasma membrane 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding 0 all cancers(203;0.00467) CATCTACCTTCATGTCGTTTT 0.428 NaN 1 0 1.33987e-11 0.008291 1.44061e-11 9 50 ARNT2 9915 broad.mit.edu 37 15 80872758 80872758 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:80872758A>G uc002bfr.2 + 16 1786 c.1620A>G c.(1618-1620)TCA>TCG p.S540S ARNT2_uc010unm.1_Silent_p.S529S|ARNT2_uc002bfs.2_Silent_p.S529S NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 540 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) CTAGCTCTTCAGTGGTTCATG 0.512 NaN 0 0 0 0.00632 0 23 92 SV2B 9899 broad.mit.edu 37 15 91769791 91769791 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:91769791G>T uc002bqv.2 + 1 689 c.298G>T c.(298-300)GAT>TAT p.D100Y SV2B_uc002bqt.2_Missense_Mutation_p.D100Y|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 100 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GACCATCATGGATGAGTGTGG 0.587 NaN 1 0 4.36969e-10 0.001855 4.61723e-10 14 33 IL32 9235 broad.mit.edu 37 16 3119252 3119252 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:3119252C>T uc002cto.2 + 6 812 c.601C>T c.(601-603)CTG>TTG p.L201L IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.L135L|IL32_uc010btb.2_Silent_p.L145L|IL32_uc002ctl.2_Silent_p.L155L|IL32_uc002ctm.2_Silent_p.L155L|IL32_uc002ctn.2_Silent_p.L155L|IL32_uc002cts.3_Silent_p.L155L|IL32_uc002ctp.2_Silent_p.L135L|IL32_uc002ctq.2_Silent_p.L201L|IL32_uc002ctr.2_Silent_p.L135L|IL32_uc002ctt.2_Silent_p.L155L|IL32_uc010uwr.1_Silent_p.L115L|IL32_uc002ctu.2_Silent_p.L146L NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 201 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 CTGCTGCTCTCTGTCAGAGCT 0.592 NaN 0 0 0 0.000978 0 11 62 CREBBP 1387 broad.mit.edu 37 16 3900861 3900861 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:3900861C>T uc002cvv.2 - 2 439 c.235G>A c.(235-237)GGC>AGC p.G79S CREBBP_uc002cvw.2_Missense_Mutation_p.G79S NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 79 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ATACTAGAGCCGCTGCCTCCT 0.542 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.002299 0 21 62 MYH11 4629 broad.mit.edu 37 16 15818266 15818266 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:15818266G>C uc002ddy.2 - 31 4224 c.4117C>G c.(4117-4119)CTC>GTC p.L1373V MYH11_uc002ddv.2_Missense_Mutation_p.L1380V|MYH11_uc002ddw.2_Missense_Mutation_p.L1373V|MYH11_uc002ddx.2_Missense_Mutation_p.L1380V|MYH11_uc010bvg.2_Missense_Mutation_p.L1205V|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.L79V|NDE1_uc002ddz.1_RNA NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1373 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GAGTCGGAGAGCTACAAGGAC 0.582 NaN T CBFB AML 0 0 0 0.004007 0 14 45 RPGRIP1L 23322 broad.mit.edu 37 16 53698905 53698905 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:53698905G>C uc002ehp.2 - 10 1184 c.1120C>G c.(1120-1122)CAT>GAT p.H374D RPGRIP1L_uc002eho.3_Missense_Mutation_p.H374D|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.H374D|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.H374D|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.H374D NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 374 Potential. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) TGCTCTTCATGGGCAGCACTG 0.438 NaN 0 0 0 0.006122 0 15 17 GPR56 9289 broad.mit.edu 37 16 57685350 57685350 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:57685350A>T uc002emb.2 + 4 595 c.303A>T c.(301-303)TTA>TTT p.L101F GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.L101F|GPR56_uc002emf.2_Missense_Mutation_p.L101F|GPR56_uc010vhs.1_Missense_Mutation_p.L101F|GPR56_uc002emd.2_Missense_Mutation_p.L101F|GPR56_uc002eme.2_Missense_Mutation_p.L101F|GPR56_uc010vht.1_Missense_Mutation_p.L106F|GPR56_uc002emg.3_Missense_Mutation_p.L101F|GPR56_uc010vhu.1_5'UTR NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 101 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 CTGGGAGATTACATCTTCTCT 0.602 NaN 0 0 0 0.007413 0 19 60 GPR97 222487 broad.mit.edu 37 16 57719645 57719645 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:57719645C>T uc002emh.2 + 11 1450 c.1347C>T c.(1345-1347)GTC>GTT p.V449V GPR97_uc010vhv.1_Silent_p.V329V|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.V57V NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 449 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 GCATGGTGGTCCTGGCCCTGG 0.592 NaN 0 0 0 0.010504 0 21 80 KATNB1 10300 broad.mit.edu 37 16 57786831 57786831 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:57786831T>C uc002eml.1 + 10 1220 c.846T>C c.(844-846)AAT>AAC p.N282N NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 282 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) CCATCTGCAATGACCAGTTGG 0.667 NaN 0 0 0 0.007291 0 21 58 NDRG4 65009 broad.mit.edu 37 16 58538110 58538110 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:58538110C>T uc002eno.2 + 3 286 c.180C>T c.(178-180)ACC>ACT p.T60T NDRG4_uc002enk.2_Silent_p.T92T|NDRG4_uc002enm.2_Silent_p.T112T|NDRG4_uc010vif.1_Silent_p.T92T|NDRG4_uc010cdk.2_Silent_p.T78T|NDRG4_uc010vig.1_Silent_p.T90T|NDRG4_uc010vih.1_Silent_p.T5T|NDRG4_uc010vii.1_Silent_p.T78T|NDRG4_uc002enp.2_Silent_p.T60T|NDRG4_uc002enq.1_5'Flank NM_022910 NP_075061 Q9ULP0 NDRG4_HUMAN NDRG family member 4 isoform 1 60 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm skin(1) 1 AGGAGATCACCAAGCACTTTG 0.572 NaN 0 0 0 0.00874 0 39 179 CBFB 865 broad.mit.edu 37 16 67116228 67116228 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:67116228T>A uc002era.2 + 5 773 c.512T>A c.(511-513)CTG>CAG p.L171Q CBFB_uc002erb.2_Intron|CBFB_uc010vja.1_Intron NM_001755 NP_001746 Q13951 PEBB_HUMAN core-binding factor, beta subunit isoform 2 171 transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066) GTTTCACAGCTGCTGGCAGTA 0.428 NaN T MYH11 AML 0 0 0 0.00361 0 38 83 THAP11 57215 broad.mit.edu 37 16 67876805 67876805 + Silent SNP A A G rs28434205 byFrequency TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:67876805A>G uc002euo.2 + 1 593 c.348A>G c.(346-348)CAA>CAG p.Q116Q CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 116 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) aacagcagcaacagcagcagc 0.303 NaN 0 0 0 0.010504 0 20 128 VPS4A 27183 broad.mit.edu 37 16 69352762 69352762 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:69352762A>G uc002eww.2 + 5 508 c.380A>G c.(379-381)AAC>AGC p.N127S NM_013245 NP_037377 Q9UN37 VPS4A_HUMAN vacuolar protein sorting factor 4A 127 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding 0 Ovarian(137;0.101) ATACGGTGGAACGACGTGGCC 0.507 NaN 0 0 0 0.00361 0 72 239 ZNF23 7571 broad.mit.edu 37 16 71483261 71483261 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:71483261G>A uc002faf.2 - 6 1481 c.667C>T c.(667-669)CCC>TCC p.P223S ZNF23_uc002fad.2_Missense_Mutation_p.P165S|ZNF23_uc002fae.2_Missense_Mutation_p.P165S|ZNF23_uc010vmf.1_Missense_Mutation_p.P165S|ZNF23_uc002fag.2_Missense_Mutation_p.P165S|ZNF23_uc002fah.2_Missense_Mutation_p.P223S|ZNF23_uc002fai.2_Missense_Mutation_p.P262S NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) CATTTGAAGGGTTTCTCCCCA 0.438 NaN 0 0 0 0.00361 0 40 32 CHST4 10164 broad.mit.edu 37 16 71571354 71571354 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:71571354G>A uc002fan.2 + 2 955 c.774G>A c.(772-774)AAG>AAA p.K258K CHST4_uc002fao.2_Silent_p.K258K NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 258 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 AGATCTACAAGACCATCCAGT 0.557 NaN OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000978 0 9 63 PHLPP2 23035 broad.mit.edu 37 16 71706188 71706188 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:71706188C>A uc002fax.2 - 9 1515 c.1509G>T c.(1507-1509)CTG>CTT p.L503L PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L503L NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 503 LRR 12. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 AGAAAGTGAGCAGGCTGGGTA 0.438 NaN 1 0 2.48551e-13 0.00499 2.69945e-13 11 26 ASPA 443 broad.mit.edu 37 17 3379514 3379514 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:3379514C>G uc010ckg.2 + 2 152 c.61C>G c.(61-63)CAT>GAT p.H21D SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.H21D NM_001128085 NP_001121557 P45381 ACY2_HUMAN aspartoacylase 21 Zinc. H -> P (in CAND). aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) TGGAGGAACCCATGGGAATGA 0.398 NaN 0 0 0 0.00874 0 34 29 TP53 7157 broad.mit.edu 37 17 7578208 7578208 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:7578208T>C uc002gim.2 - 6 835 c.641A>G c.(640-642)CAT>CGT p.H214R TP53_uc002gig.1_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 214 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CACCACACTATGTCGAAAAGT 0.542 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.00361 0 42 13 CHD3 1107 broad.mit.edu 37 17 7788214 7788214 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:7788214G>C uc002gjd.2 + 1 92 c.90G>C c.(88-90)GAG>GAC p.E30D NM_001005271 NP_001005271 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 445 Poly-Glu. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) agggcgacgaggaggaggagg 0.299 NaN 0 0 0 0.004672 0 2 3 TOP2A 7153 broad.mit.edu 37 17 38556598 38556598 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:38556598T>C uc002huq.2 - 23 2989 c.2863A>G c.(2863-2865)ACA>GCA p.T955A NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 955 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CTATAGTCTGTTATGAGAGGA 0.378 NaN 0 0 0 0.001855 0 11 15 KRT16 3868 broad.mit.edu 37 17 39766722 39766722 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:39766722T>C uc002hxg.3 - 6 1280 c.1141A>G c.(1141-1143)AGT>GGT p.S381G JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 381 Rod.|Coil 2. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) TCCTCCACACTGCCAATCAGT 0.577 NaN 0 0 0 0.00361 0 59 126 JUP 3728 broad.mit.edu 37 17 39923802 39923802 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:39923802G>A uc002hxq.2 - 5 1015 c.738C>T c.(736-738)GCC>GCT p.A246A JUP_uc010wfs.1_Silent_p.A246A|JUP_uc002hxr.2_Silent_p.A246A|JUP_uc002hxs.2_Silent_p.A246A NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 246 ARM 2. adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCGTGGTGATGGCATAGAACA 0.637 NaN 0 0 0 0.00333 0 24 85 DHX8 1659 broad.mit.edu 37 17 41598153 41598153 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:41598153A>G uc002idu.1 + 20 3045 c.2972A>G c.(2971-2973)AAA>AGA p.K991R DHX8_uc010wig.1_Missense_Mutation_p.K991R NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 991 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ATGCTATGCAAAATGCTCATC 0.478 NaN OREG0024435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 19 14 ITGA2B 3674 broad.mit.edu 37 17 42455070 42455071 + Missense_Mutation DNP GC GC TA rs146445219 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:42455070_42455071GC>TA uc002igt.1 - 21 2214_2215 c.2182_2183GC>TA c.(2182-2184)GCC>TAC p.A728Y ITGA2B_uc002igu.1_Missense_Mutation_p.A209Y NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 728 Extracellular (Potential). axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CCTCACCTGGGCGTTCTTCTTC 0.47 NaN 0 0 0 0.004672 0 12 49 AKAP1 8165 broad.mit.edu 37 17 55195741 55195741 + Splice_Site SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:55195741G>T uc002iux.2 + 9 2732 c.2501_splice c.e9-1 p.D834_splice AKAP1_uc010wnl.1_Splice_Site_p.D834_splice|AKAP1_uc010dcm.2_Splice_Site_p.D834_splice NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) TCCTCCTGAAGACGATGACCA 0.532 NaN 1 0 5.71845e-15 0.005524 6.2582e-15 32 37 LPO 4025 broad.mit.edu 37 17 56327935 56327935 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:56327935C>G uc002ivt.2 + 7 1049 c.733C>G c.(733-735)CAG>GAG p.Q245E LPO_uc010dco.2_Missense_Mutation_p.Q245E|LPO_uc010wnr.1_Missense_Mutation_p.Q162E|LPO_uc010wns.1_Missense_Mutation_p.Q186E|LPO_uc010dcp.2_Missense_Mutation_p.Q162E|LPO_uc010dcq.2_Intron|LPO_uc010dcr.2_5'Flank NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 245 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 CTCCAAAGCCCAGTGTGATGA 0.557 NaN 0 0 0 0.002522 0 37 27 RAD51C 5889 broad.mit.edu 37 17 56780655 56780655 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:56780655T>C uc002iwu.2 + 4 712 c.670T>C c.(670-672)TAT>CAT p.Y224H RAD51C_uc010woa.1_Missense_Mutation_p.Y224H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 224 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCACAAGTTTATCTTCTTCC 0.348 NaN Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 0 0 0 0.001368 0 10 27 RNFT1 51136 broad.mit.edu 37 17 58040588 58040588 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:58040588C>T uc002iya.2 - 2 207 c.114G>A c.(112-114)ATG>ATA p.M38I uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.M38I|RNFT1_uc002iyd.3_Missense_Mutation_p.M38I NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN PTD016 protein 38 integral to membrane zinc ion binding 0 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) GATTGGCTTGCATGGCCCTTA 0.453 NaN 0 0 0 0.001368 0 11 40 SCN4A 6329 broad.mit.edu 37 17 62021113 62021113 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:62021113C>T uc002jds.1 - 22 4087 c.4010G>A c.(4009-4011)CGG>CAG p.R1337Q NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1337 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TACCTGGGGCCGGGGAATTGG 0.353 NaN 0 0 0 0.001168 0 4 13 DDX5 1655 broad.mit.edu 37 17 62499626 62499626 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:62499626A>C uc002jek.2 - 6 818 c.571T>G c.(571-573)TGT>GGT p.C191G DDX5_uc010deh.2_Missense_Mutation_p.C191G|DDX5_uc002jej.2_Missense_Mutation_p.C86G|DDX5_uc010wqa.1_Missense_Mutation_p.C112G|DDX5_uc002jel.1_5'Flank NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 191 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CATGCTCTACAATATTCAGCA 0.463 NaN T ETV4 prostate 0 0 0 0.00278 0 18 45 PSMD12 5718 broad.mit.edu 37 17 65337149 65337149 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:65337149G>A uc002jfy.2 - 11 1267 c.1181C>T c.(1180-1182)TCA>TTA p.S394L PSMD12_uc002jga.2_Missense_Mutation_p.S374L|PSMD12_uc002jfz.2_Missense_Mutation_p.S335L NM_002816 NP_002807 O00232 PSD12_HUMAN proteasome 26S non-ATPase subunit 12 isoform 1 394 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding 0 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) TACTAGATTTGAGAGAAAGGC 0.338 NaN 0 0 0 0.006214 0 7 18 KCTD2 23510 broad.mit.edu 37 17 73043506 73043506 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:73043506C>T uc002jmp.2 + 1 228 c.161C>T c.(160-162)CCG>CTG p.P54L KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.2_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_Intron NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 54 P -> R (in Ref. 1; BAA11493). voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) gtcgcgcagccgctggagccg 0.149 NaN 0 0 0 0.00308 0 8 5 LLGL2 3993 broad.mit.edu 37 17 73569202 73569202 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:73569202C>T uc002joh.2 + 20 2722 c.2568C>T c.(2566-2568)GCC>GCT p.A856A LLGL2_uc002joi.2_Silent_p.A856A|LLGL2_uc010dgg.1_Silent_p.A856A|LLGL2_uc002joj.2_Silent_p.A845A|LLGL2_uc010wsd.1_Silent_p.A483A NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 856 WD 13. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GTCGTCGAGCCGAGGACTACG 0.657 NaN 0 0 0 0.00361 0 64 82 QRICH2 84074 broad.mit.edu 37 17 74283886 74283886 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:74283886G>A uc002jrd.1 - 6 3573 c.3393C>T c.(3391-3393)GTC>GTT p.V1131V QRICH2_uc010wsz.1_Silent_p.V1057V|QRICH2_uc010dgw.1_5'UTR NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1131 Potential. protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 TTTACCTGAGGACACCCAGCT 0.557 NaN 0 0 0 0.00245 0 12 49 MFSD11 79157 broad.mit.edu 37 17 74737129 74737129 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:74737129C>G uc002jta.2 + 4 1216 c.243C>G c.(241-243)GCC>GCG p.A81A MFSD11_uc002jtb.2_Silent_p.A81A|MFSD11_uc010dha.2_Silent_p.A81A|MFSD11_uc002jtc.2_Silent_p.A81A|MFSD11_uc002jtd.3_Silent_p.A81A|MFSD11_uc010dhb.2_Silent_p.A81A|MFSD11_uc002jte.2_Silent_p.A81A NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 81 Helical; (Potential). integral to membrane ovary(1) 1 CTATGTTTGCCAGTGGTTTAT 0.363 NaN 0 0 0 0.005443 0 26 41 NPLOC4 55666 broad.mit.edu 37 17 79580442 79580442 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:79580442G>A uc002kat.3 - 4 470 c.288C>T c.(286-288)GGC>GGT p.G96G NPLOC4_uc002kau.3_Silent_p.G96G|NPLOC4_uc010wur.1_5'UTR NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 96 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AGACTTTGAAGCCCGGTGGAA 0.517 NaN 0 0 0 0.004672 0 3 26 RBBP8 5932 broad.mit.edu 37 18 20581688 20581688 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:20581688A>G uc002ktw.2 + 15 2614 c.2283A>G c.(2281-2283)CTA>CTG p.L761L RBBP8_uc002kty.2_Silent_p.L761L|RBBP8_uc002ktz.2_Silent_p.L761L|RBBP8_uc002kua.2_Silent_p.L766L|RBBP8_uc010xap.1_Silent_p.L99L NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 761 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CAAAGAAACTACACAGTAAGA 0.373 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.00308 0 8 16 LAMA3 3909 broad.mit.edu 37 18 21485588 21485588 + Nonsense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:21485588G>T uc002kuq.2 + 52 6804 c.6718G>T c.(6718-6720)GAA>TAA p.E2240* LAMA3_uc002kur.2_Nonsense_Mutation_p.E2184*|LAMA3_uc002kus.3_Nonsense_Mutation_p.E631*|LAMA3_uc002kut.3_Nonsense_Mutation_p.E575* NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2240 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTAAAGCAAGGTATTAGGGG 0.438 NaN 1 0 0.00909568 0.009096 0.00924656 3 19 CDH2 1000 broad.mit.edu 37 18 25532201 25532201 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:25532201A>C uc002kwg.2 - 16 3096 c.2637T>G c.(2635-2637)GGT>GGG p.G879G CDH2_uc010xbn.1_Silent_p.G848G NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 879 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CCTGCTCACCACCACTACTTG 0.507 NaN OREG0003876 type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.004007 0 14 68 MAPRE2 10982 broad.mit.edu 37 18 32621508 32621508 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:32621508C>T uc002kyg.2 + 1 185 c.5C>T c.(4-6)CCT>CTT p.P2L MAPRE2_uc010xcb.1_Intron|MAPRE2_uc010xcc.1_Intron|MAPRE2_uc002kyf.2_Missense_Mutation_p.P2L|MAPRE2_uc002kyh.2_5'UTR|MAPRE2_uc010xcd.1_5'Flank NM_014268 NP_055083 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, 2 cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding ovary(1) 1 GCGCCAATGCCTGGGCCGACC 0.612 NaN 0 0 0 0.00361 0 75 83 PIK3C3 5289 broad.mit.edu 37 18 39637870 39637870 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:39637870G>A uc002lap.2 + 22 2345 c.2287G>A c.(2287-2289)GGA>AGA p.G763R PIK3C3_uc010xcl.1_Missense_Mutation_p.G700R|PIK3C3_uc002laq.2_Missense_Mutation_p.G248R NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 763 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 CATAGACTTTGGATATATTTT 0.418 NaN TSP Lung(28;0.18) 0 0 0 0.000978 0 9 14 MAPK4 5596 broad.mit.edu 37 18 48255680 48255680 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:48255680G>A uc002lev.2 + 6 2220 c.1220G>A c.(1219-1221)CGC>CAC p.R407H MAPK4_uc010xdm.1_Missense_Mutation_p.R196H|MAPK4_uc010doz.2_3'UTR NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 407 cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) AGCTCCGAGCGCTTCCTAGAG 0.692 NaN 0 0 0 0.00499 0 14 9 APC2 10297 broad.mit.edu 37 19 1462114 1462114 + Silent SNP C C T rs142142534 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:1462114C>T uc002lsr.1 + 14 1999 c.1791C>T c.(1789-1791)ATC>ATT p.I597I APC2_uc002lss.1_Silent_p.I179I|APC2_uc002lst.1_Silent_p.I597I|APC2_uc002lsu.1_Silent_p.I596I|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 597 ARM 4. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) TGGCCATCATCGAGAGCGGCG 0.667 NaN 0 0 0 0.00361 0 37 128 ATP8B3 148229 broad.mit.edu 37 19 1785276 1785276 + Nonsense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:1785276G>C uc002ltw.2 - 27 3648 c.3414C>G c.(3412-3414)TAC>TAG p.Y1138* ATP8B3_uc002ltv.2_Nonsense_Mutation_p.Y1101*|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1138 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCGGTCCAGTACTTGATGA 0.607 NaN 0 0 0 0.001168 0 4 27 FZR1 51343 broad.mit.edu 37 19 3534500 3534500 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:3534500C>T uc010dtk.2 + 12 1463 c.1429C>T c.(1429-1431)CGT>TGT p.R477C FZR1_uc002lxt.2_Missense_Mutation_p.R477C|FZR1_uc002lxv.2_Missense_Mutation_p.R388C NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Fzr1 protein isoform 1 477 WD 7. activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding lung(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TAGCAAAACCCGTTCGACAAA 0.627 NaN 0 0 0 0.009096 0 4 12 ZBTB7A 51341 broad.mit.edu 37 19 4047820 4047820 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:4047820C>T uc002lzh.2 - 3 1760 c.1685G>A c.(1684-1686)GGT>GAT p.G562D ZBTB7A_uc002lzi.2_Missense_Mutation_p.G562D NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 562 Poly-Gly. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTCCTCCACCGGCGCCCGC 0.632 NaN 0 0 0 0.001882 0 16 69 S1PR5 53637 broad.mit.edu 37 19 10625203 10625203 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:10625203G>A uc002mot.1 - 2 542 c.485C>T c.(484-486)TCG>TTG p.S162L S1PR5_uc002mou.1_Missense_Mutation_p.S162L NM_030760 NP_110387 Q9H228 S1PR5_HUMAN endothelial differentiation, sphingolipid 162 Helical; Name=4; (By similarity). integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|pancreas(1) 2 GAGGAGCAGCGACACGCCCCA 0.726 NaN 0 0 0 0.000978 0 9 9 ZNF136 7695 broad.mit.edu 37 19 12298627 12298627 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:12298627T>C uc002mti.2 + 4 1534 c.1434T>C c.(1432-1434)TGT>TGC p.C478C ZNF136_uc010xmh.1_Silent_p.C412C NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 478 C2H2-type 13. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 CCTTTGAATGTAAGCGATGTG 0.418 NaN 0 0 0 0.008291 0 11 9 JUNB 3726 broad.mit.edu 37 19 12903008 12903008 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:12903008A>C uc002mvc.2 + 1 699 c.423A>C c.(421-423)AAA>AAC p.K141N JUNB_uc002mvb.2_RNA NM_002229 NP_002220 P17275 JUNB_HUMAN jun B proto-oncogene 141 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity lung(2)|central_nervous_system(1) 3 GCTTTGTCAAAGCCCTGGACG 0.567 NaN 0 0 0 0.001168 0 6 13 JUNB 3726 broad.mit.edu 37 19 12903565 12903565 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:12903565A>G uc002mvc.2 + 1 1256 c.980A>G c.(979-981)AAG>AGG p.K327R JUNB_uc002mvb.2_RNA NM_002229 NP_002220 P17275 JUNB_HUMAN jun B proto-oncogene 327 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity lung(2)|central_nervous_system(1) 3 CTCAAACAGAAGGTCATGACC 0.652 NaN 0 0 0 0.004656 0 22 27 CPAMD8 27151 broad.mit.edu 37 19 17012070 17012070 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:17012070C>G uc002nfb.2 - 36 4896 c.4864G>C c.(4864-4866)GAG>CAG p.E1622Q CPAMD8_uc002nfd.1_Missense_Mutation_p.E87Q NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1575 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AGGGGCACCTCCAGGACAGCC 0.607 NaN 0 0 0 0.004656 0 21 25 ZNF737 100129842 broad.mit.edu 37 19 20728292 20728292 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:20728292G>C uc002npa.2 - 4 897 c.717C>G c.(715-717)AGC>AGG p.S239R NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 239 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 ATGAAAACCGGCTAAAGGCTT 0.428 NaN 0 0 0 0.000602 0 5 7 TSHZ3 57616 broad.mit.edu 37 19 31769651 31769651 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:31769651C>T uc002nsy.3 - 2 1113 c.1048G>A c.(1048-1050)GAT>AAT p.D350N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 350 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TGAAGTGCATCGTTGGTGTCT 0.567 NaN 0 0 0 0.009718 0 36 117 ZFP82 284406 broad.mit.edu 37 19 36883875 36883875 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:36883875C>T uc002ody.1 - 5 1602 c.1367G>A c.(1366-1368)GGC>GAC p.G456D NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 456 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 AAAGGCCTTGCCACATTCCTT 0.418 NaN 0 0 0 0.001855 0 14 9 AXL 558 broad.mit.edu 37 19 41765721 41765721 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:41765721A>G uc010ehj.2 + 20 2787 c.2597A>G c.(2596-2598)TAT>TGT p.Y866C CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.Y857C|HNRNPUL1_uc010ehl.1_5'Flank NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 866 Cytoplasmic (Potential). integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 GCTGGACGCTATGTCCTCTGC 0.652 NaN 0 0 0 0.00361 0 61 59 HNRNPUL1 11100 broad.mit.edu 37 19 41808694 41808694 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:41808694C>T uc002oqb.3 + 12 2101 c.1812C>T c.(1810-1812)CCC>CCT p.P604P CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.P504P|HNRNPUL1_uc002oqa.3_Silent_p.P504P|HNRNPUL1_uc010ehm.2_Silent_p.P604P|HNRNPUL1_uc002oqc.3_Silent_p.P490P|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.P504P|HNRNPUL1_uc010ehn.2_Silent_p.P504P|HNRNPUL1_uc010eho.2_Silent_p.P504P|HNRNPUL1_uc010xvy.1_Silent_p.P504P|HNRNPUL1_uc010ehp.2_Silent_p.P460P|HNRNPUL1_uc002oqf.3_Silent_p.P128P NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 604 Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 CTGGGCCACCCCCTGAAAAGC 0.627 NaN 0 0 0 0.008871 0 18 55 ARHGEF1 9138 broad.mit.edu 37 19 42402702 42402702 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:42402702C>G uc002orx.2 + 14 1342 c.1233C>G c.(1231-1233)CCC>CCG p.P411P ARHGEF1_uc002ory.2_Silent_p.P378P|ARHGEF1_uc002orz.2_Silent_p.P249P|ARHGEF1_uc002osa.2_Silent_p.P426P|ARHGEF1_uc002osb.2_Silent_p.P393P|ARHGEF1_uc002osc.2_Silent_p.P165P|ARHGEF1_uc002osd.2_Silent_p.P70P NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 411 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACAGCCTGCCCAAGAGCCAGG 0.652 NaN 0 0 0 0.004482 0 6 16 ZNF233 353355 broad.mit.edu 37 19 44777421 44777421 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:44777421T>C uc002oyz.1 + 5 735 c.608T>C c.(607-609)GTA>GCA p.V203A ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.V18A NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) CAAATTGATGTAAAAAATAAG 0.378 NaN 0 0 0 0.00308 0 7 9 ERCC2 2068 broad.mit.edu 37 19 45867687 45867687 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:45867687T>C uc002pbj.2 - 8 760 c.713A>G c.(712-714)AAC>AGC p.N238S ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 238 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCACCAATGTTGTGGGCCTC 0.637 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.003163 0 15 39 DMWD 1762 broad.mit.edu 37 19 46290118 46290118 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:46290118G>T uc002pdj.1 - 3 682 c.636C>A c.(634-636)GAC>GAA p.D212E DMWD_uc002pdk.1_Missense_Mutation_p.D212E|DMWD_uc010eko.1_5'UTR NM_004943 NP_004934 Q09019 DMWD_HUMAN dystrophia myotonica-containing WD repeat motif 212 WD 1. meiosis 0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CCTTGGTCTTGTCGATCAACC 0.582 NaN 1 0 1.5842e-08 0.001855 1.65358e-08 14 32 STRN4 29888 broad.mit.edu 37 19 47226204 47226204 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:47226204T>C uc002pfl.2 - 14 1802 c.1769A>G c.(1768-1770)CAC>CGC p.H590R STRN4_uc002pfm.2_Missense_Mutation_p.H597R|STRN4_uc010xyf.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 590 WD 4. cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) GGGGACCCCGTGCTCTGAGGG 0.662 NaN 0 0 0 0.009535 0 27 67 GPR77 27202 broad.mit.edu 37 19 47844239 47844239 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:47844239G>T uc010ela.1 + 2 401 c.183G>T c.(181-183)GGG>GGT p.G61G GPR77_uc002pgk.1_Silent_p.G61G NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 61 Helical; Name=1; (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) GGGTGGCTGGGAAGGTGGCCC 0.687 NaN 1 0 6.07207e-39 0.00361 6.94645e-39 76 258 DHX34 9704 broad.mit.edu 37 19 47879304 47879304 + Nonsense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:47879304C>T uc010xyn.1 + 11 2772 c.2431C>T c.(2431-2433)CAG>TAG p.Q811* DHX34_uc010xyo.1_5'Flank NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 811 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCTGTACCCACAGCTGGCCGT 0.607 NaN 0 0 0 0.006999 0 31 97 MAMSTR 284358 broad.mit.edu 37 19 49217717 49217717 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:49217717T>A uc002pkg.2 - 7 691 c.629A>T c.(628-630)GAG>GTG p.E210V MAMSTR_uc002pkf.2_Missense_Mutation_p.E107V NM_001130915 NP_001124387 Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing 210 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding ovary(1) 1 CTTcggccgctcgcggggcgg 0.617 NaN 0 0 0 0.00308 0 8 4 RASIP1 54922 broad.mit.edu 37 19 49238543 49238543 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:49238543G>A uc002pki.2 - 4 1286 c.1089C>T c.(1087-1089)CCC>CCT p.P363P NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 363 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CGAAGTCCCCGGGGTCTGCAG 0.672 NaN 0 0 0 0.010504 0 19 60 HSD17B14 51171 broad.mit.edu 37 19 49316713 49316713 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:49316713C>T uc002pkv.1 - 8 905 c.639G>A c.(637-639)CAG>CAA p.Q213Q BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Intron NM_016246 NP_057330 Q9BPX1 DHB14_HUMAN dehydrogenase/reductase (SDR family) member 10 213 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity 0 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) CCACTTCTACCTGGGCCAGCA 0.607 NaN 0 0 0 0.004482 0 6 3 FUZ 80199 broad.mit.edu 37 19 50315535 50315535 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:50315535T>C uc002ppq.1 - 3 396 c.291A>G c.(289-291)AGA>AGG p.R97R FUZ_uc002ppr.1_5'UTR|FUZ_uc002pps.1_Intron|FUZ_uc002ppt.1_Intron|FUZ_uc002ppu.1_Intron|FUZ_uc002ppv.1_Silent_p.R47R|FUZ_uc010ybd.1_Silent_p.R97R NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN fuzzy homolog 97 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TTTGGAGTAGTCTCTCCAGCC 0.333 NaN 0 0 0 0.004482 0 8 16 MYH14 79784 broad.mit.edu 37 19 50735294 50735294 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:50735294C>T uc002prr.1 + 9 1104 c.1057C>T c.(1057-1059)CGG>TGG p.R353W MYH14_uc010enu.1_Missense_Mutation_p.R361W|MYH14_uc002prq.1_Missense_Mutation_p.R361W NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 353 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGAGTCGCTGCGGGTCCTGGG 0.662 NaN 0 0 0 0.010504 0 15 56 ZNF616 90317 broad.mit.edu 37 19 52619312 52619312 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:52619312C>T uc002pym.2 - 4 1388 c.1105G>A c.(1105-1107)GTA>ATA p.V369I ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 369 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) CGGTGACATACAAGATTTGAT 0.418 NaN 0 0 0 0.00361 0 47 58 ZNF28 7576 broad.mit.edu 37 19 53311303 53311303 + Nonsense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:53311303G>T uc002qad.2 - 3 219 c.99C>A c.(97-99)TAC>TAA p.Y33* ZNF28_uc002qac.2_5'UTR|ZNF28_uc010eqe.2_Intron NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 33 KRAB. 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) TCACATCCCTGTAAAGAGTCC 0.483 NaN 1 0 5.18039e-06 0.00308 5.32947e-06 7 77 ZNF548 147694 broad.mit.edu 37 19 57910511 57910511 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:57910511T>C uc002qom.2 + 3 1106 c.856T>C c.(856-858)TGT>CGT p.C286R ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.C289R NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 286 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGCAACACATGTGGGAAATT 0.433 NaN 0 0 0 0.008291 0 9 20 ZNF749 388567 broad.mit.edu 37 19 57956154 57956154 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:57956154C>G uc002qoq.2 + 3 1892 c.1638C>G c.(1636-1638)CAC>CAG p.H546Q ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TCATTCAACACAAGAGGATTG 0.463 NaN 0 0 0 0.008291 0 8 22 ZNF329 79673 broad.mit.edu 37 19 58639356 58639356 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:58639356A>T uc002qrn.2 - 4 1752 c.1515T>A c.(1513-1515)CAT>CAA p.H505Q ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 505 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) CCTCCCTGCTATGGAGTCTCT 0.512 NaN 0 0 0 0.00361 0 64 83 ACP1 52 broad.mit.edu 37 2 275176 275176 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:275176C>T uc002qwg.2 + 4 364 c.268C>T c.(268-270)CTA>TTA p.L90L ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Silent_p.L90L NM_007099 NP_009030 P24666 PPAC_HUMAN acid phosphatase 1, soluble isoform b 90 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity skin(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) TGATTATATACTATGTATGGA 0.343 NaN 0 0 0 0.009096 0 4 19 RPS7 6201 broad.mit.edu 37 2 3623453 3623453 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:3623453G>A uc002qxw.2 + 3 228 c.122G>A c.(121-123)AGG>AAG p.R41K RPS7_uc002qxx.2_Missense_Mutation_p.R41K|RPS7_uc002qxy.2_5'Flank NM_001011 NP_001002 P62081 RS7_HUMAN ribosomal protein S7 41 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome protein binding|RNA binding|structural constituent of ribosome 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) GCTCAGCTCAGGGAGCTGAAT 0.637 NaN 0 0 0 0.006214 0 7 17 GREB1 9687 broad.mit.edu 37 2 11758611 11758611 + Missense_Mutation SNP C C T rs71446422 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:11758611C>T uc002rbk.1 + 22 3910 c.3610C>T c.(3610-3612)CTC>TTC p.L1204F GREB1_uc002rbp.1_Missense_Mutation_p.L202F NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1204 Ser-rich. integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CGACTGTAGCCTCAGGACCGG 0.701 NaN 0 0 0 0.001882 0 20 19 FAM84A 151354 broad.mit.edu 37 2 14774804 14774804 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:14774804C>T uc002rbz.1 + 2 943 c.701C>T c.(700-702)GCA>GTA p.A234V FAM84A_uc002rca.1_5'Flank NM_145175 NP_660158 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 234 pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GAGGTGCCGGCAGGCACGCAG 0.642 NaN 0 0 0 0.001855 0 11 5 FBXO11 80204 broad.mit.edu 37 2 48061799 48061799 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:48061799C>T uc010fbl.2 - 7 715 c.601G>A c.(601-603)GAT>AAT p.D201N FBXO11_uc002rwe.2_Missense_Mutation_p.D201N|FBXO11_uc002rwf.2_Missense_Mutation_p.D201N|FBXO11_uc002rwg.1_Missense_Mutation_p.D201N|FBXO11_uc010fbk.2_5'Flank NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 285 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATAAGTCCATCAAAATGAGCC 0.328 NaN 0 0 0 0.008291 0 7 14 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809237 48809237 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:48809237A>G uc010yol.1 + 1 1512 c.1465A>G c.(1465-1467)AAG>GAG p.K489E STON1_uc002rwo.3_Missense_Mutation_p.K489E|STON1_uc010fbm.2_Missense_Mutation_p.K489E|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.K489E|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.K489E NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 489 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCATTTTCATAAGTGTGTGAA 0.378 NaN 0 0 0 0.004007 0 17 14 GPR75 10936 broad.mit.edu 37 2 54080390 54080390 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:54080390G>T uc002rxo.3 - 2 1775 c.1504C>A c.(1504-1506)CCA>ACA p.P502T ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 502 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GAGTTTACTGGCTGTAAGTTA 0.458 NaN 1 0 2.61193e-14 0.009535 2.84396e-14 29 93 SLC1A4 6509 broad.mit.edu 37 2 65248205 65248205 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:65248205C>T uc010yqa.1 + 8 1846 c.1524C>T c.(1522-1524)CCC>CCT p.P508P SLC1A4_uc010ypy.1_Silent_p.P288P|SLC1A4_uc010ypz.1_Silent_p.P210P|SLC1A4_uc010fcv.2_3'UTR|SLC1A4_uc002sdh.2_Silent_p.P288P NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 508 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(1) 1 L-Alanine(DB00160) AGACATCGCCCCTGGTGACAC 0.587 NaN 0 0 0 0.00333 0 21 105 LOXL3 84695 broad.mit.edu 37 2 74762468 74762468 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:74762468G>C uc002smp.1 - 9 1602 c.1530C>G c.(1528-1530)ACC>ACG p.T510T LOXL3_uc002smo.1_Silent_p.T149T|LOXL3_uc010ffm.1_Silent_p.T454T|LOXL3_uc002smq.1_Silent_p.T365T|LOXL3_uc010ffn.1_Silent_p.T365T NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 510 SRCR 4. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 TCCTCTTGCAGGTGATGTGGG 0.582 NaN 0 0 0 0.00874 0 38 38 RNF181 51255 broad.mit.edu 37 2 85823723 85823723 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:85823723G>T uc002spv.1 + 2 218 c.168G>T c.(166-168)AAG>AAT p.K56N NM_016494 NP_057578 Q9P0P0 RN181_HUMAN ring finger protein 181 56 ligase activity|zinc ion binding 0 CAGCTGCCAAGACTGTGGTTG 0.537 NaN 1 0 2.98393e-07 0.00278 3.09953e-07 20 28 AFF3 3899 broad.mit.edu 37 2 100343579 100343579 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:100343579C>T uc002tag.2 - 10 1287 c.1051G>A c.(1051-1053)GCA>ACA p.A351T AFF3_uc002taf.2_Missense_Mutation_p.A376T|AFF3_uc010fiq.1_Missense_Mutation_p.A351T|AFF3_uc010yvr.1_Missense_Mutation_p.A505T|AFF3_uc002tah.1_Missense_Mutation_p.A376T|AFF3_uc010fir.1_Missense_Mutation_p.A428T NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 351 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TCTGGCTCTGCATCACCTTTC 0.353 NaN 0 0 0 0.000978 0 10 11 IL18RAP 8807 broad.mit.edu 37 2 103068609 103068609 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:103068609A>G uc002tbx.2 + 12 2252 c.1768A>G c.(1768-1770)ACT>GCT p.T590A IL18RAP_uc010fiz.2_Missense_Mutation_p.T448A NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 590 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 AACAGAAACCACTGGGAGGAG 0.512 NaN 0 0 0 0.00245 0 11 33 RGPD3 653489 broad.mit.edu 37 2 107073498 107073498 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:107073498C>T uc010ywi.1 - 4 391 c.334G>A c.(334-336)GGA>AGA p.G112R NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 112 intracellular transport binding ovary(1) 1 TCTGCTCTTCCATCAGTAACA 0.343 NaN 0 0 0 0.00333 0 19 29 NCKAP5 344148 broad.mit.edu 37 2 133540952 133540952 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:133540952A>G uc002ttp.2 - 14 3806 c.3432T>C c.(3430-3432)ACT>ACC p.T1144T NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1144 protein binding 0 CTGGAAGGCGAGTTTTCAGTC 0.483 NaN 0 0 0 0.003163 0 13 49 R3HDM1 23518 broad.mit.edu 37 2 136409597 136409597 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:136409597C>T uc002tuo.2 + 17 2288 c.1918C>T c.(1918-1920)CCA>TCA p.P640S R3HDM1_uc010fni.2_Missense_Mutation_p.P639S|R3HDM1_uc002tup.2_Missense_Mutation_p.P585S|R3HDM1_uc010zbh.1_Missense_Mutation_p.P388S NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 640 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) GCAGCCATCACCACAGGTATA 0.423 NaN 0 0 0 0.005524 0 34 33 ARL6IP6 151188 broad.mit.edu 37 2 153575447 153575447 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:153575447G>A uc002tyn.2 + 1 1025 c.309G>A c.(307-309)CGG>CGA p.R103R ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank NM_152522 NP_689735 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting 103 integral to membrane 0 AGCCTCGGCGGTGGCCGGTCC 0.632 NaN 0 0 0 0.002445 0 25 35 PKP4 8502 broad.mit.edu 37 2 159517954 159517954 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:159517954G>A uc002tzv.2 + 13 2463 c.2203G>A c.(2203-2205)GAC>AAC p.D735N PKP4_uc002tzt.1_Missense_Mutation_p.D587N|PKP4_uc002tzu.2_Missense_Mutation_p.D735N|PKP4_uc002tzw.2_Missense_Mutation_p.D735N|PKP4_uc002tzx.2_Missense_Mutation_p.D392N|PKP4_uc002tzy.1_Missense_Mutation_p.D393N|PKP4_uc002uaa.2_Missense_Mutation_p.D587N|uc002uab.1_RNA|PKP4_uc002uac.2_5'Flank NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 735 ARM 6. cell adhesion desmosome protein binding ovary(5)|skin(2) 7 ATCCGATTACGACAGCAAGGT 0.572 NaN HNSCC(62;0.18) 0 0 0 0.004878 0 28 140 PLA2R1 22925 broad.mit.edu 37 2 160876633 160876633 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:160876633A>G uc002ube.1 - 8 1643 c.1436T>C c.(1435-1437)GTC>GCC p.V479A PLA2R1_uc010zcp.1_Missense_Mutation_p.V479A|PLA2R1_uc002ubf.2_Missense_Mutation_p.V479A NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 479 Extracellular (Potential).|C-type lectin 2. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 CTCTGCTGAGACACACAGCTG 0.264 NaN 0 0 0 0.00245 0 12 20 SCN2A 6326 broad.mit.edu 37 2 166231239 166231239 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:166231239T>G uc002udc.2 + 22 4307 c.4017T>G c.(4015-4017)AAT>AAG p.N1339K SCN2A_uc002udd.2_Missense_Mutation_p.N1339K|SCN2A_uc002ude.2_Missense_Mutation_p.N1339K NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1339 III. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CTATCATGAATGTACTTCTGG 0.363 NaN 0 0 0 0.004007 0 13 18 SCN9A 6335 broad.mit.edu 37 2 167056069 167056069 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:167056069T>C uc010fpl.2 - 27 5388 c.5047A>G c.(5047-5049)ATT>GTT p.I1683V uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1694 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GAGGTTGTAATTTGGAACAGG 0.408 NaN 0 0 0 0.00874 0 34 95 XIRP2 129446 broad.mit.edu 37 2 168100155 168100156 + Missense_Mutation DNP GC GC AT TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:168100155_168100156GC>AT uc002udx.2 + 8 2271_2272 c.2253_2254GC>AT c.(2251-2256)ATGCTG>ATATTG p.M751I XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.M576I|XIRP2_uc010fpq.2_Missense_Mutation_p.M529I|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 576 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CGGGCCAAATGCTGGAAATTAA 0.366 NaN 0 0 0 0.004672 0 4 24 TTN 7273 broad.mit.edu 37 2 179472309 179472309 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:179472309A>C uc010zfg.1 - 226 45626 c.45402T>G c.(45400-45402)CCT>CCG p.P15134P uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P8829P|TTN_uc010zfi.1_Silent_p.P8762P|TTN_uc010zfj.1_Silent_p.P8637P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16061 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATACTTTTGTAGGTACAGGGC 0.453 NaN 0 0 0 0.00361 0 41 134 ZC3H15 55854 broad.mit.edu 37 2 187371546 187371546 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:187371546A>G uc002upo.2 + 9 1298 c.1073A>G c.(1072-1074)TAT>TGT p.Y358C NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN erythropoietin 4 immediate early response 358 cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) TTCAGCACATATACTTCAGAT 0.313 NaN 0 0 0 0.00245 0 11 33 ITGAV 3685 broad.mit.edu 37 2 187533614 187533614 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:187533614T>C uc002upq.2 + 25 2835 c.2559T>C c.(2557-2559)ACT>ACC p.T853T ITGAV_uc010frs.2_Silent_p.T817T|ITGAV_uc010zfv.1_Silent_p.T807T NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 853 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TGAACTGCACTTCAGATATGG 0.343 NaN 0 0 0 0.00333 0 19 27 MYO1B 4430 broad.mit.edu 37 2 192194756 192194756 + Splice_Site SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:192194756G>T uc010fsg.2 + 4 601 c.346_splice c.e4+1 p.E116_splice MYO1B_uc002usq.2_Splice_Site_p.E116_splice|MYO1B_uc002usr.2_Splice_Site_p.E116_splice|MYO1B_uc002uss.1_Splice_Site_p.E116_splice NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GGAAAAACAGGTAAGGCTCCT 0.483 NaN 1 0 5.03518e-11 0.007413 5.37337e-11 19 25 SLC39A10 57181 broad.mit.edu 37 2 196581642 196581642 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:196581642G>A uc002utg.3 + 7 2192 c.1978G>A c.(1978-1980)GAT>AAT p.D660N SLC39A10_uc002uth.3_Missense_Mutation_p.D660N|SLC39A10_uc010zgp.1_Missense_Mutation_p.D210N NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 660 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) TTCTGGATCCGATCTGAAAGA 0.493 NaN 0 0 0 0.004007 0 15 70 ALS2 57679 broad.mit.edu 37 2 202593268 202593268 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:202593268G>A uc002uyo.2 - 15 3164 c.2808C>T c.(2806-2808)TTC>TTT p.F936F ALS2_uc002uyp.3_Silent_p.F936F|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 936 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TAAAGAGAATGAACCAATTCA 0.488 NaN 0 0 0 0.001168 0 6 47 FZD7 8324 broad.mit.edu 37 2 202899544 202899544 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:202899544G>C uc002uyw.1 + 1 235 c.174G>C c.(172-174)ACG>ACC p.T58T NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 58 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 CGCTGTGCACGGACATCGCCT 0.672 NaN 0 0 0 0.00361 0 61 188 PTPRN 5798 broad.mit.edu 37 2 220166979 220166979 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:220166979T>C uc002vkz.2 - 6 963 c.874A>G c.(874-876)AGG>GGG p.R292G PTPRN_uc010zlc.1_Missense_Mutation_p.R202G|PTPRN_uc002vla.2_Missense_Mutation_p.R292G NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 292 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CTTGGCACCCTGGCCCTGCTG 0.632 NaN 0 0 0 0.00623 0 37 16 COL4A3 1285 broad.mit.edu 37 2 228113226 228113226 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:228113226C>T uc002vom.1 + 9 698 c.536C>T c.(535-537)CCA>CTA p.P179L COL4A3_uc002von.1_Missense_Mutation_p.P179L|COL4A3_uc002voo.1_Missense_Mutation_p.P179L|COL4A3_uc002vop.1_Missense_Mutation_p.P179L|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 179 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCAGGGGCTCCAGGACCCCAG 0.333 NaN 0 0 0 0.003163 0 12 6 ALPI 248 broad.mit.edu 37 2 233322746 233322746 + Nonsense_Mutation SNP C C T rs147248868 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:233322746C>T uc002vst.3 + 8 972 c.895C>T c.(895-897)CGA>TGA p.R299* ALPI_uc002vsu.3_Nonsense_Mutation_p.R210* NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 299 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGAGATCCACCGAGACCCCAC 0.617 NaN 0 0 0 0.00361 0 62 28 USP40 55230 broad.mit.edu 37 2 234460031 234460031 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:234460031A>G uc010zmu.1 - 7 946 c.828T>C c.(826-828)TTT>TTC p.F276F USP40_uc010zmr.1_Silent_p.F288F|USP40_uc010zmt.1_5'Flank Q9NVE5 UBP40_HUMAN SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15); 276 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CCTGTTCACAAAAGGGCTTGA 0.323 NaN 0 0 0 0.006214 0 6 1 KLHL30 377007 broad.mit.edu 37 2 239054468 239054468 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:239054468T>C uc002vxr.1 + 4 1124 c.1091T>C c.(1090-1092)ATC>ACC p.I364T NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN kelch-like 30 382 Kelch 3. 0 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) ATCTACGTTATCGGCGGTGAG 0.657 NaN 0 0 0 0.002445 0 25 7 PLCB1 23236 broad.mit.edu 37 20 8862423 8862423 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:8862423T>G uc002wnb.2 + 32 3581 c.3578T>G c.(3577-3579)GTG>GGG p.V1193G PLCB1_uc002wna.2_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1193 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CCTGGAAAAGTGAACCACAAG 0.502 NaN 0 0 0 0.00361 0 59 68 SEL1L2 80343 broad.mit.edu 37 20 13856714 13856714 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:13856714G>C uc010gcf.2 - 12 1156 c.1074C>G c.(1072-1074)GCC>GCG p.A358A SEL1L2_uc002woq.3_Silent_p.A219A|SEL1L2_uc010zrl.1_Silent_p.A358A|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 358 Extracellular (Potential).|Sel1-like 6. integral to membrane binding ovary(2) 2 AGTACTTGAAGGCAGTAGCGT 0.373 NaN 0 0 0 0.00632 0 23 94 C20orf186 149954 broad.mit.edu 37 20 31688261 31688261 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:31688261A>G uc010zue.1 + 12 1614 c.1599A>G c.(1597-1599)ACA>ACG p.T533T NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 533 cytoplasm|extracellular region lipid binding 0 CATTTTCCACAGAAGGAGATA 0.527 NaN 0 0 0 0.003163 0 5 33 EDEM2 55741 broad.mit.edu 37 20 33735053 33735053 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:33735053G>A uc002xbo.2 - 1 109 c.9C>T c.(7-9)TTC>TTT p.F3F EDEM2_uc010zuv.1_Intron|EDEM2_uc010zus.1_5'Flank|EDEM2_uc002xbq.2_Silent_p.F3F|EDEM2_uc010zut.1_5'UTR|EDEM2_uc002xbp.2_5'UTR|EDEM2_uc002xbn.2_5'UTR|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_5'UTR NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 3 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) TGAGCAGCCGGAAAGGCATAG 0.677 NaN 0 0 0 0.00361 0 49 34 CHD6 84181 broad.mit.edu 37 20 40049605 40049605 + Silent SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:40049605T>A uc002xka.1 - 31 5848 c.5670A>T c.(5668-5670)GTA>GTT p.V1890V NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1890 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TGAGATGCAATACCTCTGGCC 0.388 NaN 0 0 0 0.003954 0 23 20 KCNK15 60598 broad.mit.edu 37 20 43374640 43374640 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:43374640A>T uc002xmr.2 + 1 153 c.89A>T c.(88-90)GAG>GTG p.E30V NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 30 integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) GACGCGCTCGAGTCCGAGGCG 0.721 NaN 0 0 0 0.009096 0 4 17 STK4 6789 broad.mit.edu 37 20 43607147 43607147 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:43607147A>T uc002xnb.2 + 3 270 c.180A>T c.(178-180)CAA>CAT p.Q60H STK4_uc010ggx.2_Missense_Mutation_p.Q60H|STK4_uc010ggy.2_Missense_Mutation_p.Q60H|STK4_uc010ggw.1_Missense_Mutation_p.Q60H NM_006282 NP_006273 Q13043 STK4_HUMAN serine/threonine kinase 4 60 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding ovary(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) CTATTAAGCAAGTTCCTGTGG 0.413 NaN 0 0 0 0.001855 0 11 28 TAF4 6874 broad.mit.edu 37 20 60581776 60581776 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:60581776G>A uc002ybs.2 - 7 2013 c.2013C>T c.(2011-2013)TCC>TCT p.S671S NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 671 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TGAAGGCCGCGGAGTCGGGGG 0.657 NaN 0 0 0 0.00361 0 99 93 MRPS6 64968 broad.mit.edu 37 21 35497670 35497670 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:35497670G>A uc002ytp.2 + 2 253 c.75G>A c.(73-75)ACG>ACA p.T25T NM_032476 NP_115865 P82932 RT06_HUMAN mitochondrial ribosomal protein S6 25 translation mitochondrion|small ribosomal subunit rRNA binding|structural constituent of ribosome skin(1) 1 TGAAACGTACGATAGAGGCCC 0.418 NaN 0 0 0 0.00361 0 44 44 DSCR6 53820 broad.mit.edu 37 21 38390265 38390265 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:38390265T>G uc002yvv.2 + 4 541 c.331T>G c.(331-333)TTC>GTC p.F111V DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR NM_018962 NP_061835 P57055 DSCR6_HUMAN Down syndrome critical region protein 6 111 Ripply homology domain. nucleus breast(1) 1 Myeloproliferative disorder(46;0.0632) CACGATTGACTTCTACGACGA 0.537 NaN 0 0 0 0.00245 0 12 29 TFF1 7031 broad.mit.edu 37 21 43786556 43786556 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:43786556T>C uc002zax.1 - 1 89 c.49A>G c.(49-51)ATG>GTG p.M17V NM_003225 NP_003216 P04155 TFF1_HUMAN trefoil factor 1 precursor 17 carbohydrate metabolic process|response to estradiol stimulus growth factor activity 0 AGGGCCAGCATGGACACCAGG 0.667 NaN 0 0 0 0.00333 0 20 46 ICOSLG 23308 broad.mit.edu 37 21 45656811 45656811 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:45656811C>A uc002zee.2 - 3 479 c.345G>T c.(343-345)GTG>GTT p.V115V ICOSLG_uc011afc.1_Silent_p.V25V|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.V115V NM_015259 NP_056074 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand precursor 115 Ig-like V-type.|Extracellular (Potential). B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding 0 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) ATTGGCTCAACACCAGGCAGT 0.607 NaN 1 0 7.75977e-34 0.00361 8.83008e-34 57 90 MCM3AP 8888 broad.mit.edu 37 21 47700482 47700482 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:47700482G>A uc002zir.1 - 3 1487 c.1451C>T c.(1450-1452)GCA>GTA p.A484V NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 484 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) AGCCAGGGCTGCAGATGCCTG 0.403 NaN 0 0 0 0.002299 0 17 30 DGCR8 54487 broad.mit.edu 37 22 20074109 20074109 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr22:20074109A>G uc002zri.2 + 2 973 c.623A>G c.(622-624)AAT>AGT p.N208S DGCR8_uc010grz.2_Missense_Mutation_p.N208S|DGCR8_uc002zrj.2_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 208 Necessary for nuclear localization and retention.|Necessary for interaction with NCL. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) TTTACTGACAATTTGGAGCTA 0.478 NaN 0 0 0 0.00361 0 47 19 FOXRED2 80020 broad.mit.edu 37 22 36902136 36902136 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr22:36902136T>C uc003apn.3 - 1 442 c.334A>G c.(334-336)AGA>GGA p.R112G FOXRED2_uc003apo.3_Missense_Mutation_p.R112G|FOXRED2_uc003app.3_Missense_Mutation_p.R112G NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 112 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 GAGTAGTGTCTGAAGAGCAGC 0.627 NaN 0 0 0 0.00361 0 96 52 CSF2RB 1439 broad.mit.edu 37 22 37318275 37318275 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr22:37318275C>A uc003aqa.3 + 2 243 c.26C>A c.(25-27)TCC>TAC p.S9Y CSF2RB_uc003aqc.3_Missense_Mutation_p.S9Y NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 9 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) GGGCTGCTCTCCATGGCCCTG 0.672 NaN 1 0 4.22769e-11 0.00632 4.5229e-11 20 6 ARFGAP3 26286 broad.mit.edu 37 22 43218291 43218291 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr22:43218291G>C uc003bdd.2 - 9 1017 c.797C>G c.(796-798)TCT>TGT p.S266C ARFGAP3_uc010gzf.2_Missense_Mutation_p.S222C|ARFGAP3_uc011apu.1_Missense_Mutation_p.S194C NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating 266 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(1) 1 TTCTTCTTTAGATACCACCTT 0.338 NaN 0 0 0 0.001882 0 19 12 EDEM1 9695 broad.mit.edu 37 3 5229970 5229970 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:5229970C>T uc003bqi.2 + 1 612 c.480C>T c.(478-480)TGC>TGT p.C160C EDEM1_uc011asz.1_5'UTR|EDEM1_uc003bqh.2_Silent_p.C160C NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 160 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) CCATCCACTGCCGCGGCCGTG 0.602 NaN 0 0 0 0.001882 0 16 31 FBLN2 2199 broad.mit.edu 37 3 13659771 13659771 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:13659771G>T uc011avb.1 + 6 2050 c.1925G>T c.(1924-1926)CGC>CTC p.R642L FBLN2_uc011auz.1_Missense_Mutation_p.R668L|FBLN2_uc011ava.1_Missense_Mutation_p.R642L|FBLN2_uc011avc.1_Missense_Mutation_p.R642L NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 642 EGF-like 1; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GACGATGGCCGCACTTGCCGC 0.617 NaN 1 0 3.62473e-10 0.001882 3.83953e-10 19 50 ANKRD28 23243 broad.mit.edu 37 3 15727600 15727600 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:15727600T>G uc003caj.1 - 20 2131 c.1988A>C c.(1987-1989)AAC>ACC p.N663T ANKRD28_uc003cai.1_Missense_Mutation_p.N509T|ANKRD28_uc011avz.1_Missense_Mutation_p.N509T|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.N693T|ANKRD28_uc003cam.2_Missense_Mutation_p.N696T NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 663 ANK 19. nucleoplasm protein binding breast(1) 1 TGTGTGCCCGTTGAGAACAGA 0.468 NaN 0 0 0 0.001168 0 5 12 ZNF385D 79750 broad.mit.edu 37 3 21478519 21478519 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:21478519A>T uc003cce.2 - 5 1024 c.616T>A c.(616-618)TGT>AGT p.C206S ZNF385D_uc010hfb.1_RNA NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 206 Matrin-type 2. nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 CATAGCGAACAGTAAAGAAGC 0.483 NaN 0 0 0 0.007413 0 14 44 SCAP 22937 broad.mit.edu 37 3 47484415 47484415 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:47484415T>C uc003crh.1 - 2 324 c.69A>G c.(67-69)GCA>GCG p.A23A SCAP_uc011baz.1_5'UTR|SCAP_uc003crg.2_5'UTR NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 23 Helical; Name=1; (Potential). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) TGGGATAGGATGCACAGAGGA 0.542 NaN 0 0 0 0.001168 0 5 18 RBM5 10181 broad.mit.edu 37 3 50144929 50144929 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:50144929C>T uc003cyg.2 + 12 1116 c.968C>T c.(967-969)TCA>TTA p.S323L RBM5_uc011bdj.1_Missense_Mutation_p.S267L|RBM5_uc011bdk.1_Missense_Mutation_p.S151L NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 323 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTGGTCCTCTCAGATGGTAAC 0.478 NaN 0 0 0 0.000978 0 9 21 GRAMD1C 54762 broad.mit.edu 37 3 113563350 113563350 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:113563350G>A uc003eaq.3 + 2 104 c.28G>A c.(28-30)GTG>ATG p.V10M GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 10 integral to membrane ovary(2)|skin(1) 3 TTGTTTCCAGGTGATGAATGA 0.323 NaN 0 0 0 0.006214 0 9 20 ITGB5 3693 broad.mit.edu 37 3 124540305 124540305 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:124540305C>T uc003eho.2 - 6 1094 c.797G>A c.(796-798)CGA>CAA p.R266Q NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 266 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) TGCATCCTTTCGCCAGCCAAT 0.567 NaN 0 0 0 0.003755 0 31 149 COL6A6 131873 broad.mit.edu 37 3 130381085 130381085 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:130381085C>G uc010htl.2 + 34 6466 c.6435C>G c.(6433-6435)GGC>GGG p.G2145G COL6A6_uc003eni.3_Silent_p.G244G NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 2145 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCCAGCTTGGCCGAATTCATA 0.448 NaN 0 0 0 0.005443 0 18 116 NPHP3 27031 broad.mit.edu 37 3 132408036 132408036 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:132408036T>A uc003epe.1 - 20 2842 c.2765A>T c.(2764-2766)TAC>TTC p.Y922F NPHP3_uc003epd.1_Missense_Mutation_p.Y164F NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 922 TPR 3. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 TGAATCGAAGTATTCTGTTGC 0.408 NaN 0 0 0 0.002522 0 38 30 CLSTN2 64084 broad.mit.edu 37 3 140277676 140277676 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:140277676C>G uc003etn.2 + 12 2208 c.2018C>G c.(2017-2019)GCC>GGC p.A673G NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 673 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 AAAACCGAAGCCCCCGGGGAC 0.502 NaN HNSCC(16;0.037) 0 0 0 0.008871 0 17 26 HPS3 84343 broad.mit.edu 37 3 148889891 148889891 + Nonsense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:148889891C>G uc003ewu.1 + 17 3037 c.2897C>G c.(2896-2898)TCA>TGA p.S966* CP_uc011bnr.1_Intron|HPS3_uc011bnq.1_Nonsense_Mutation_p.S801*|HPS3_uc003ewv.1_RNA NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 966 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAAACATTGTCAATTGTTGCT 0.353 NaN Hermansky-Pudlak_syndrome 0 0 0 0.00333 0 22 14 FNDC3B 64778 broad.mit.edu 37 3 172064198 172064198 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:172064198A>T uc003fhy.2 + 20 2504 c.2332A>T c.(2332-2334)ACA>TCA p.T778S FNDC3B_uc003fhz.3_Missense_Mutation_p.T778S NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 778 Fibronectin type-III 6. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TATTTCTTGTACACCTGATGG 0.423 NaN 0 0 0 0.00278 0 17 68 TNFSF10 8743 broad.mit.edu 37 3 172227013 172227013 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:172227013A>G uc003fid.2 - 4 507 c.412T>C c.(412-414)TCT>CCT p.S138P TNFSF10_uc003fie.2_Intron NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 138 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TTACTTGGAGAAGACAATGTG 0.358 NaN 0 0 0 0.001984 0 5 28 LEPREL1 55214 broad.mit.edu 37 3 189690704 189690704 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:189690704T>C uc011bsk.1 - 11 2046 c.1658A>G c.(1657-1659)TAT>TGT p.Y553C LEPREL1_uc003fsg.2_Missense_Mutation_p.Y372C NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 553 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATAGGAAAAATACAGAGTTGA 0.433 NaN 0 0 0 0.004289 0 31 21 MUC20 200958 broad.mit.edu 37 3 195453217 195453217 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:195453217C>G uc010hzo.2 + 3 1356 c.1230C>G c.(1228-1230)CTC>CTG p.L410L MUC20_uc010hzp.2_Silent_p.L375L|MUC20_uc011bte.1_RNA NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 581 Involved in oligomerization. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) AAGCCGCCCTCAAGAACTTCA 0.597 NaN 0 0 0 0.004007 0 14 105 MUC4 4585 broad.mit.edu 37 3 195512568 195512568 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:195512568T>C uc011bto.1 - 2 6343 c.5883A>G c.(5881-5883)GTA>GTG p.V1961V MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GACCTGTGGGTACTGAGGAAG 0.602 NaN 0 0 0 0.004672 0 2 6 HGFAC 3083 broad.mit.edu 37 4 3449359 3449359 + Splice_Site SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:3449359G>A uc003ghc.2 + 11 1498 c.1495_splice c.e11+1 p.V499_splice HGFAC_uc010icw.2_Splice_Site_p.V506_splice NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CACGACCTCGGTGAGCTCCGG 0.652 NaN 0 0 0 0.00361 0 216 288 FBXL5 26234 broad.mit.edu 37 4 15626988 15626988 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:15626988A>C uc003goc.1 - 9 1840 c.1737T>G c.(1735-1737)CCT>CCG p.P579P FBXL5_uc010idw.1_Silent_p.P492P|FBXL5_uc003gob.1_Silent_p.P453P|FBXL5_uc010idx.1_Silent_p.P578P|FBXL5_uc003god.1_Silent_p.P562P|FBXL5_uc010idy.1_Silent_p.P579P NM_012161 NP_036293 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 isoform 579 LRR 5. iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity 0 CTTTTCCCCTAGGCAATCTAG 0.398 NaN 0 0 0 0.006214 0 8 10 ARAP2 116984 broad.mit.edu 37 4 36231078 36231078 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:36231078T>C uc003gsq.1 - 2 369 c.31A>G c.(31-33)ATA>GTA p.I11V ARAP2_uc003gsr.1_Missense_Mutation_p.I11V NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 11 SAM. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AAATCTTTTATATCCACATTT 0.383 NaN 0 0 0 0.000978 0 8 35 KCTD8 386617 broad.mit.edu 37 4 44177154 44177154 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:44177154T>C uc003gwu.2 - 2 1359 c.1075A>G c.(1075-1077)AGT>GGT p.S359G NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 359 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 CTGTCACAACTGGAAGTGGAG 0.468 NaN HNSCC(17;0.042) 0 0 0 0.007413 0 17 38 FRYL 285527 broad.mit.edu 37 4 48577219 48577219 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:48577219T>C uc003gyh.1 - 25 3366 c.2761A>G c.(2761-2763)ATA>GTA p.I921V FRYL_uc003gyk.2_Missense_Mutation_p.I921V NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 921 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 ATTGGAACTATGTGCTTAAAC 0.398 NaN 0 0 0 0.000602 0 5 28 OCIAD1 54940 broad.mit.edu 37 4 48859275 48859275 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:48859275C>G uc003gyo.2 + 8 850 c.593C>G c.(592-594)ACA>AGA p.T198R OCIAD1_uc003gyr.2_Missense_Mutation_p.T198R|OCIAD1_uc003gyp.2_Intron|OCIAD1_uc003gys.2_Intron|OCIAD1_uc003gyq.2_Intron|OCIAD1_uc010igk.2_Missense_Mutation_p.T203R NM_017830 NP_060300 Q9NX40 OCAD1_HUMAN OCIA domain containing 1 isoform 1 198 endosome protein binding 0 AAAAATATTACATATGAGGAA 0.333 NaN 0 0 0 0.001984 0 5 6 SCFD2 152579 broad.mit.edu 37 4 54232001 54232001 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:54232001C>A uc003gzu.2 - 1 242 c.108G>T c.(106-108)CTG>CTT p.L36L SCFD2_uc010igm.2_Silent_p.L36L NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 36 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) AGCCCCAGTGCAGGCTCTCGG 0.652 NaN 1 0 1.43161e-34 0.00361 1.63341e-34 67 64 ODAM 54959 broad.mit.edu 37 4 71068501 71068501 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:71068501A>G uc003hfc.2 + 9 694 c.677A>G c.(676-678)CAA>CGA p.Q226R NM_017855 NP_060325 A1E959 ODAM_HUMAN odontogenic ameloblast-associated protein 226 biomineral tissue development|odontogenesis of dentine-containing tooth fibril ovary(3)|large_intestine(1) 4 CCATATTTACAAAAAGAAGCG 0.388 NaN 0 0 0 0.00308 0 7 13 GRSF1 2926 broad.mit.edu 37 4 71693625 71693625 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:71693625T>C uc010iia.1 - 6 1162 c.1079A>G c.(1078-1080)CAT>CGT p.H360R GRSF1_uc011caz.1_Missense_Mutation_p.H242R|GRSF1_uc003hfs.2_Missense_Mutation_p.H198R NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 360 mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) ATTTACTTCATGTTCTTCAAA 0.383 NaN 0 0 0 0.002299 0 19 50 WDFY3 23001 broad.mit.edu 37 4 85731400 85731400 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:85731400T>C uc003hpd.2 - 14 2393 c.1985A>G c.(1984-1986)GAA>GGA p.E662G WDFY3_uc003hpf.2_Missense_Mutation_p.E662G NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 662 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAAAGATCTTTCCATAGCAAC 0.458 NaN 0 0 0 0.001368 0 10 29 ANKRD50 57182 broad.mit.edu 37 4 125590169 125590169 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:125590169G>C uc003ifg.3 - 3 4529 c.4263C>G c.(4261-4263)TTC>TTG p.F1421L ANKRD50_uc011cgo.1_Missense_Mutation_p.F1242L|ANKRD50_uc010inw.2_Missense_Mutation_p.F1421L NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1421 central_nervous_system(1) 1 TTTTATAGTTGAAGCTAGGGT 0.318 NaN 0 0 0 0.009096 0 4 4 PCDH18 54510 broad.mit.edu 37 4 138452651 138452651 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:138452651G>A uc003ihe.3 - 1 979 c.592C>T c.(592-594)CTC>TTC p.L198F PCDH18_uc003ihf.3_Missense_Mutation_p.L191F|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 198 Extracellular (Potential).|Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) ACCACTATGAGTTCTGCATAC 0.488 NaN 0 0 0 0.00308 0 8 30 FNIP2 57600 broad.mit.edu 37 4 159789770 159789770 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:159789770G>T uc003iqe.3 + 13 2165 c.1982G>T c.(1981-1983)GGC>GTC p.G661V NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 661 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CCGCAAGATGGCTCTTCAAGA 0.522 NaN 1 0 1.49906e-05 0.00245 1.53851e-05 14 13 FSTL5 56884 broad.mit.edu 37 4 162697123 162697123 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:162697123G>A uc003iqh.2 - 5 949 c.513C>T c.(511-513)GAC>GAT p.D171D FSTL5_uc003iqi.2_Silent_p.D170D|FSTL5_uc010iqv.2_Silent_p.D170D NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 171 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GAGATATGTCGTCGCCATTAG 0.303 NaN 0 0 0 0.000602 0 5 9 ANP32C 23520 broad.mit.edu 37 4 165118190 165118191 + Missense_Mutation DNP CC CC AG TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:165118190_165118191CC>AG uc011cjk.1 - 1 673_674 c.673_674GG>CT c.(673-675)GGT>CTT p.G225L MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 225 Asp/Glu-rich (highly acidic). 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) ttcttcttcaccaagctcttct 0.035 NaN 0 0 0 0.004672 0 8 6 PDZD2 23037 broad.mit.edu 37 5 32048677 32048677 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:32048677T>C uc003jhl.2 + 8 1940 c.1552T>C c.(1552-1554)TAT>CAT p.Y518H PDZD2_uc003jhm.2_Missense_Mutation_p.Y518H|PDZD2_uc011cnx.1_Missense_Mutation_p.Y344H NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 518 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AGTTGAAGAATATAACGAGCT 0.527 NaN 0 0 0 0.00361 0 51 46 PDZD2 23037 broad.mit.edu 37 5 32089375 32089375 + Nonsense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:32089375G>T uc003jhl.2 + 20 6209 c.5821G>T c.(5821-5823)GAG>TAG p.E1941* PDZD2_uc003jhm.2_Nonsense_Mutation_p.E1941* NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1941 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AGCCGACCACGAGGACCCTGA 0.602 NaN 1 0 1.26289e-39 0.00361 1.44861e-39 96 88 SPEF2 79925 broad.mit.edu 37 5 35779431 35779431 + Nonsense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:35779431T>G uc003jjo.2 + 30 4541 c.4430T>G c.(4429-4431)TTA>TGA p.L1477* SPEF2_uc003jjp.1_Nonsense_Mutation_p.L963*|SPEF2_uc003jjr.2_5'UTR NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1477 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATCAGTTCTTAGATATGGCA 0.398 NaN 0 0 0 0.004878 0 31 26 C7 730 broad.mit.edu 37 5 40972587 40972587 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:40972587G>C uc003jmh.2 + 15 2079 c.1965G>C c.(1963-1965)GTG>GTC p.V655V C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 655 Sushi 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GTGAGAAGGTGACTGTTTCCT 0.473 NaN 0 0 0 0.00308 0 7 70 HEATR7B2 133558 broad.mit.edu 37 5 41045898 41045898 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:41045898G>C uc003jmj.3 - 18 2276 c.1786C>G c.(1786-1788)CAG>GAG p.Q596E HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q151E NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 596 HEAT 7. binding ovary(6)|central_nervous_system(2) 8 TTGAAATCCTGAGTCAGCTGA 0.388 NaN 0 0 0 0.00361 0 112 93 MGC42105 167359 broad.mit.edu 37 5 43277375 43277375 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:43277375A>T uc003jno.2 + 3 1390 c.509A>T c.(508-510)GAA>GTA p.E170V NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 170 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 AAGCTCTCTGAACCAGAAAGC 0.532 NaN 0 0 0 0.00623 0 29 77 F2RL1 2150 broad.mit.edu 37 5 76129480 76129480 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:76129480G>C uc003keo.2 + 2 1223 c.1048G>C c.(1048-1050)GAT>CAT p.D350H NM_005242 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 350 Cytoplasmic (Potential). blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity central_nervous_system(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TGTTTCACATGATTTCAGGGA 0.488 NaN 0 0 0 0.00361 0 129 53 PJA2 9867 broad.mit.edu 37 5 108680459 108680459 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:108680459C>G uc003kos.3 - 8 2046 c.1826G>C c.(1825-1827)AGT>ACT p.S609T NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 609 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GCTTTCCTTACTAGCTGGTGG 0.413 NaN 0 0 0 0.003755 0 26 22 CHSY3 337876 broad.mit.edu 37 5 129520908 129520908 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:129520908G>A uc003kvd.2 + 3 2073 c.2073G>A c.(2071-2073)ATG>ATA p.M691I NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 691 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TGATCCCAATGAAGGGAGAGT 0.443 NaN 0 0 0 0.00245 0 15 5 FNIP1 96459 broad.mit.edu 37 5 131008068 131008068 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:131008068T>C uc003kvs.1 - 14 2211 c.2069A>G c.(2068-2070)GAC>GGC p.D690G RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D662G|FNIP1_uc010jdm.1_Missense_Mutation_p.D645G NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 690 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TGCACATTTGTCTACTGGAAC 0.418 NaN 0 0 0 0.00361 0 75 38 ARHGAP26 23092 broad.mit.edu 37 5 142513586 142513586 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:142513586C>G uc011dbj.1 + 19 1788 c.1753C>G c.(1753-1755)CGG>GGG p.R585G ARHGAP26_uc003lmt.2_Missense_Mutation_p.R585G|ARHGAP26_uc003lmw.2_Missense_Mutation_p.R585G NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 585 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACCTGTCTCGGAAGAAGAG 0.537 NaN 0 0 0 0.00361 0 125 41 FAT2 2196 broad.mit.edu 37 5 150947267 150947267 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:150947267T>A uc003lue.3 - 1 1239 c.1226A>T c.(1225-1227)AAT>ATT p.N409I GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.N409I NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 409 Extracellular (Potential).|Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTTCGAGCATTAAGTTTAAA 0.537 NaN 0 0 0 0.002445 0 30 9 CNOT8 9337 broad.mit.edu 37 5 154250228 154250228 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:154250228A>G uc003lvu.2 + 5 798 c.319A>G c.(319-321)ATG>GTG p.M107V CNOT8_uc011ddf.1_Missense_Mutation_p.M1V|CNOT8_uc011ddg.1_Missense_Mutation_p.M1V|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.M107V|CNOT8_uc010jig.2_Missense_Mutation_p.M1V|CNOT8_uc010jif.2_Missense_Mutation_p.M1V|CNOT8_uc003lvw.2_Missense_Mutation_p.M107V|CNOT8_uc011ddi.1_Missense_Mutation_p.M1V|CNOT8_uc011ddj.1_Intron NM_004779 NP_004770 Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 107 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TAGAGAGGACATGTACTCCCA 0.398 NaN Direct_reversal_of_damage 0 0 0 0.006122 0 16 7 HIST1H2AG 8969 broad.mit.edu 37 6 27101228 27101228 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:27101228G>A uc003niw.2 + 1 412 c.378G>A c.(376-378)AAG>AAA p.K126K HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 126 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 GCCACCACAAGGCGAAGGGCA 0.522 NaN 0 0 0 0.004289 0 32 61 TRIM31 11074 broad.mit.edu 37 6 30071549 30071549 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:30071549C>T uc003npg.1 - 9 1152 c.1042G>A c.(1042-1044)GGG>AGG p.G348R TRIM31_uc003npi.3_RNA NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN tripartite motif protein 31 348 mitochondrion ligase activity|zinc ion binding lung(1) 1 TTTGGTGGCCCCGATGTAGTT 0.567 NaN 0 0 0 0.00361 0 42 128 MDC1 9656 broad.mit.edu 37 6 30672554 30672554 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:30672554G>T uc003nrg.3 - 10 4846 c.4406C>A c.(4405-4407)CCT>CAT p.P1469H MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P1076H NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1469 Pro-rich.|Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CTGAGACGTAGGCTCAGGGGT 0.562 NaN Other_conserved_DNA_damage_response_genes 1 0 4.21773e-46 0.00361 4.864e-46 81 108 HLA-C 3107 broad.mit.edu 37 6 31239079 31239079 + Silent SNP G G A rs45558335 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:31239079G>A uc003nsy.2 - 3 397 c.390C>T c.(388-390)GAC>GAT p.D130D HLA-C_uc011dnj.1_Silent_p.D102D|HLA-C_uc003nsx.2_Silent_p.D9D|HLA-C_uc003nsz.2_Silent_p.D130D|HLA-C_uc010jsl.2_Silent_p.D130D|HLA-C_uc003nta.2_Silent_p.D130D|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Silent_p.D9D|HLA-B_uc003ntf.2_Silent_p.D130D NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 130 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 GGAGGCGCCCGTCGGGCCCCA 0.741 NaN 0 0 0 0.00361 0 25 190 NOTCH4 4855 broad.mit.edu 37 6 32169985 32169985 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:32169985G>T uc003obb.2 - 21 3762 c.3623C>A c.(3622-3624)CCA>CAA p.P1208Q NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1208 LNR 1.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CCAGGGGTCTGGGACTCCCAG 0.637 NaN 1 0 2.84431e-33 0.00361 3.22806e-33 79 114 ITPR3 3710 broad.mit.edu 37 6 33623613 33623613 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:33623613T>C uc011drk.1 + 3 450 c.231T>C c.(229-231)ACT>ACC p.T77T NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 77 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CCAAGCAGACTAAGCAGGACA 0.572 NaN 0 0 0 0.00361 0 52 71 STK38 11329 broad.mit.edu 37 6 36483157 36483157 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:36483157G>A uc003omg.2 - 6 1215 c.627C>T c.(625-627)ATC>ATT p.I209I STK38_uc003omh.2_Silent_p.I209I|STK38_uc003omi.2_Silent_p.I209I NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 209 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 TGTCTCTGTGGATGAATCCAA 0.433 NaN 0 0 0 0.00623 0 32 36 TAF8 129685 broad.mit.edu 37 6 42019188 42019188 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:42019188G>C uc003ors.2 + 2 168 c.139G>C c.(139-141)GAG>CAG p.E47Q CCND3_uc003orp.2_5'Flank|CCND3_uc011duk.1_5'Flank|CCND3_uc011dum.1_5'Flank|TAF8_uc003orr.2_Missense_Mutation_p.E47Q|TAF8_uc003ort.2_Missense_Mutation_p.E47Q|TAF8_uc003oru.1_Missense_Mutation_p.E47Q|TAF8_uc003orv.1_Missense_Mutation_p.E47Q|TAF8_uc011dun.1_5'UTR NM_138572 NP_612639 Q7Z7C8 TAF8_HUMAN TBP-associated factor 8 47 Histone-fold. cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding ovary(1) 1 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) CTTGCTGACAGAGGCAGGGTT 0.537 NaN 0 0 0 0.002299 0 23 74 CUL9 23113 broad.mit.edu 37 6 43156452 43156452 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:43156452A>C uc003ouk.2 + 8 2254 c.2179A>C c.(2179-2181)AGA>CGA p.R727R CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Silent_p.R727R|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 727 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CAGATCGCTGAGGTTAGCATA 0.552 NaN 0 0 0 0.003214 0 34 67 POLR1C 9533 broad.mit.edu 37 6 43488129 43488129 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:43488129G>A uc003ovn.2 + 6 676 c.619G>A c.(619-621)GAA>AAA p.E207K POLR1C_uc003ovo.1_Missense_Mutation_p.E207K NM_203290 NP_976035 O15160 RPAC1_HUMAN RNA polymerase I subunit isoform 1 207 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GCCTGGCCAAGAAATTGACCT 0.562 NaN 0 0 0 0.007291 0 22 107 POLH 5429 broad.mit.edu 37 6 43571701 43571701 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:43571701C>T uc003ovq.3 + 7 1141 c.837C>T c.(835-837)ACC>ACT p.T279T POLH_uc010jyu.2_Silent_p.T155T|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Silent_p.T180T NM_006502 NP_006493 Q9Y253 POLH_HUMAN DNA-directed DNA polymerase eta 279 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(2) 2 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GTGAACTGACCCAGTTCACTG 0.408 NaN DNA_polymerases_(catalytic_subunits) Xeroderma_Pigmentosum 0 0 0 0.007413 0 14 23 IBTK 25998 broad.mit.edu 37 6 82936933 82936933 + Silent SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:82936933T>G uc003pjl.1 - 5 1157 c.630A>C c.(628-630)GGA>GGC p.G210G IBTK_uc011dyv.1_Silent_p.G210G|IBTK_uc011dyw.1_Silent_p.G210G|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Silent_p.G210G NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 210 RCC1 2. negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CATCTCCATGTCCTAATCGCC 0.378 NaN 0 0 0 0.002445 0 26 47 MDN1 23195 broad.mit.edu 37 6 90353822 90353822 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:90353822A>G uc003pnn.1 - 102 16809 c.16693T>C c.(16693-16695)TAC>CAC p.Y5565H NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5565 VWFA. protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ATGATATAGTATGGGAATGGG 0.448 NaN 0 0 0 0.00245 0 12 46 MDN1 23195 broad.mit.edu 37 6 90422326 90422326 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:90422326G>A uc003pnn.1 - 48 7514 c.7398C>T c.(7396-7398)AAC>AAT p.N2466N NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2466 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGCTCATCCTGTTGAGACAAT 0.468 NaN 0 0 0 0.00361 0 41 52 MAP3K7 6885 broad.mit.edu 37 6 91254347 91254347 + Nonsense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:91254347A>C uc003pnz.1 - 12 1377 c.1215T>G c.(1213-1215)TAT>TAG p.Y405* MAP3K7_uc003poa.1_Nonsense_Mutation_p.Y405*|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 405 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TAGGCTTGGAATAGGCTGCAA 0.388 NaN 0 0 0 0.006214 0 9 34 AIM1 202 broad.mit.edu 37 6 107011686 107011686 + Silent SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:107011686T>G uc003prh.2 + 19 5449 c.4962T>G c.(4960-4962)TCT>TCG p.S1654S AIM1_uc003pri.2_Silent_p.S458S NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1654 Ricin B-type lectin. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TGGTAACATCTGGCTCCAAGC 0.493 NaN 0 0 0 0.002522 0 30 36 SASH1 23328 broad.mit.edu 37 6 148865308 148865308 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:148865308C>A uc003qme.1 + 18 3177 c.2702C>A c.(2701-2703)TCT>TAT p.S901Y SASH1_uc011eeb.1_Missense_Mutation_p.S662Y|SASH1_uc003qmf.1_Missense_Mutation_p.S311Y NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 901 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) AAGAGATTTTCTGAACCTCAG 0.537 NaN 1 0 4.65686e-17 0.003755 5.10945e-17 30 102 CNKSR3 154043 broad.mit.edu 37 6 154762424 154762424 + Splice_Site SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:154762424A>C uc003qpy.2 - 4 1012 c.507_splice c.e4+1 p.K169_splice NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CATACTACTGACCTTCTGGAC 0.373 NaN 0 0 0 0.001984 0 5 28 EIF2AK1 27102 broad.mit.edu 37 7 6086641 6086641 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:6086641T>C uc003spp.2 - 5 677 c.531A>G c.(529-531)GGA>GGG p.G177G EIF2AK1_uc003spq.2_Silent_p.G177G|EIF2AK1_uc011jwm.1_Silent_p.G53G|EIF2AK1_uc003spr.1_5'Flank NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 177 ATP (By similarity).|Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CTCTTCCGTATCCACCTTTTC 0.328 NaN 0 0 0 0.009718 0 33 15 AGR2 10551 broad.mit.edu 37 7 16834567 16834567 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:16834567T>C uc003str.2 - 7 658 c.471A>G c.(469-471)ACA>ACG p.T157T NM_006408 NP_006399 O95994 AGR2_HUMAN anterior gradient 2 homolog precursor 157 mucus secretion endoplasmic reticulum|extracellular region protein binding 0 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) TACACAGAGCTGTATCTGCAG 0.378 NaN 0 0 0 0.004007 0 14 49 C7orf25 79020 broad.mit.edu 37 7 42949751 42949751 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:42949751A>T uc003thw.2 - 2 1213 c.749T>A c.(748-750)CTG>CAG p.L250Q C7orf25_uc010kxq.2_Missense_Mutation_p.L250Q|C7orf25_uc003thx.3_Missense_Mutation_p.L308Q|C7orf25_uc010kxr.2_Missense_Mutation_p.L308Q NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 250 skin(1) 1 AGTAATGTCCAGATTTACTCT 0.413 NaN 0 0 0 0.001882 0 18 51 HECW1 23072 broad.mit.edu 37 7 43436489 43436489 + Splice_Site SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:43436489G>C uc003tid.1 + 7 1236 c.631_splice c.e7+1 p.D211_splice HECW1_uc011kbi.1_Splice_Site_p.D211_splice|HECW1_uc003tie.1_Splice_Site_p.D243_splice NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 TCTCTCTCAGGTATGTTTTGC 0.403 NaN 0 0 0 0.000978 0 10 31 PKD1L1 168507 broad.mit.edu 37 7 47892757 47892757 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:47892757A>G uc003tny.1 - 31 4928 c.4928T>C c.(4927-4929)GTG>GCG p.V1643A NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1643 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ATAAATCTGCACAATTGACTC 0.388 NaN 0 0 0 0.005524 0 24 70 GUSB 2990 broad.mit.edu 37 7 65439384 65439384 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:65439384A>C uc003tun.2 - 8 1365 c.1289T>G c.(1288-1290)ATG>AGG p.M430R GUSB_uc011kdt.1_Missense_Mutation_p.M284R NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 430 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 CACTTCTTCCATCACCTGCAT 0.607 NaN 0 0 0 0.00361 0 126 183 PION 54103 broad.mit.edu 37 7 77006665 77006665 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:77006665C>T uc003ugf.2 - 9 698 c.619G>A c.(619-621)GAG>AAG p.E207K PION_uc003ugg.1_5'UTR NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 207 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 ACGAAATCCTCAGCTATTCTG 0.323 NaN 0 0 0 0.010504 0 17 88 ZKSCAN5 23660 broad.mit.edu 37 7 99129564 99129564 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:99129564A>C uc003uqv.2 + 7 2336 c.2212A>C c.(2212-2214)ACT>CCT p.T738P ZKSCAN5_uc010lfx.2_Missense_Mutation_p.T738P|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.T738P|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.T665P|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.T474P NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 738 C2H2-type 10. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCATTACAGAACTCATACAGC 0.398 NaN 0 0 0 0.003271 0 30 32 CYP3A4 1576 broad.mit.edu 37 7 99375680 99375680 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:99375680T>G uc003urv.1 - 3 293 c.189A>C c.(187-189)GAA>GAC p.E63D CYP3A4_uc003urw.1_Missense_Mutation_p.E63D|CYP3A4_uc011kiz.1_Missense_Mutation_p.E63D|CYP3A4_uc011kja.1_Intron|CYP3A4_uc011kjb.1_Intron NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 63 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TTTTATGACATTCCATGTCAA 0.363 NaN 0 0 0 0.000978 0 11 18 EPHB4 2050 broad.mit.edu 37 7 100417868 100417868 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:100417868G>C uc003uwn.1 - 5 1350 c.859C>G c.(859-861)CCA>GCA p.P287A EPHB4_uc003uwm.1_Missense_Mutation_p.P194A|EPHB4_uc010lhj.1_Missense_Mutation_p.P287A|EPHB4_uc011kkf.1_Missense_Mutation_p.P287A|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.P287A NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 287 Extracellular (Potential).|Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) GCTGGGCATGGCTGGCAGGAC 0.592 NaN 0 0 0 0.00361 0 164 335 COG5 10466 broad.mit.edu 37 7 106921779 106921779 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:106921779G>A uc003ved.2 - 14 2159 c.1634C>T c.(1633-1635)ACC>ATC p.T545I COG5_uc003vec.2_Missense_Mutation_p.T545I|COG5_uc003vee.2_Missense_Mutation_p.T545I NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 545 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 TAACTGGATGGTCTTTGCCAC 0.299 NaN 0 0 0 0.010504 0 13 25 PPP1R3A 5506 broad.mit.edu 37 7 113519130 113519130 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:113519130T>G uc010ljy.1 - 4 2048 c.2017A>C c.(2017-2019)ACA>CCA p.T673P NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 673 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 ATATGCTCTGTTATGTTTGTC 0.378 NaN 0 0 0 0.00361 0 43 49 KCND2 3751 broad.mit.edu 37 7 120381638 120381638 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:120381638T>C uc003vjj.1 + 3 2294 c.1329T>C c.(1327-1329)GCT>GCC p.A443A NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 443 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) GCGCAAATGCTTACATGCAGA 0.368 NaN 0 0 0 0.010504 0 14 24 PLXNA4 91584 broad.mit.edu 37 7 131832748 131832748 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:131832748C>G uc003vra.3 - 27 5004 c.4775G>C c.(4774-4776)GGT>GCT p.G1592A PLXNA4_uc003vqz.3_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1592 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CACCACGGAACCATCTGGCAC 0.507 NaN 0 0 0 0.001855 0 12 78 UBN2 254048 broad.mit.edu 37 7 138978726 138978726 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:138978726C>A uc011kqr.1 + 17 3993 c.3993C>A c.(3991-3993)CAC>CAA p.H1331Q NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 1331 ovary(1)|skin(1) 2 AAGCATTTCACGGTGAGAACG 0.433 NaN 1 0 2.23348e-06 0.004007 2.31441e-06 14 25 KEL 3792 broad.mit.edu 37 7 142650920 142650920 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:142650920C>A uc003wcb.2 - 9 1258 c.1048G>T c.(1048-1050)GTG>TTG p.V350L NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 350 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) ATCTCCTCCACCAGTTGTGAC 0.537 NaN 1 0 5.88774e-50 0.00361 6.8266e-50 109 199 ZNF786 136051 broad.mit.edu 37 7 148769267 148769267 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:148769267G>A uc003wfh.2 - 4 734 c.597C>T c.(595-597)AAC>AAT p.N199N ZNF786_uc011kuk.1_Silent_p.N162N|ZNF786_uc003wfi.2_Silent_p.N113N NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 199 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTAAATGGTTGTTCTCCCAAC 0.582 NaN 0 0 0 0.00245 0 9 22 FGF20 26281 broad.mit.edu 37 8 16859521 16859521 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:16859521G>A uc003wxc.1 - 1 154 c.21C>T c.(19-21)GTC>GTT p.V7V FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Silent_p.V7V NM_019851 NP_062825 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 7 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity lung(1) 1 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GAAAGCCCCCGACTTCGGCTA 0.637 NaN 0 0 0 0.00308 0 6 3 DPYSL2 1808 broad.mit.edu 37 8 26509890 26509890 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:26509890C>T uc003xfb.1 + 12 1749 c.1399C>T c.(1399-1401)CGC>TGC p.R467C DPYSL2_uc003xfa.2_Missense_Mutation_p.R572C|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.R431C NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 467 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) AGGCTCTGGACGCTACATTCC 0.522 NaN 0 0 0 0.010504 0 19 45 PRKDC 5591 broad.mit.edu 37 8 48817520 48817520 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:48817520T>C uc003xqi.2 - 26 3008 c.2951A>G c.(2950-2952)TAT>TGT p.Y984C PRKDC_uc003xqj.2_Missense_Mutation_p.Y984C|PRKDC_uc011ldh.1_Missense_Mutation_p.Y984C NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 984 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TAGTGGCTCATACAGTTGCCT 0.358 NaN NHEJ 0 0 0 0.00333 0 19 19 MOS 4342 broad.mit.edu 37 8 57025641 57025641 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:57025641C>T uc011leb.1 - 1 901 c.901G>A c.(901-903)GCT>ACT p.A301T NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 301 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) AAGACGGCAGCGGAGAGGGAC 0.692 NaN 0 0 0 0.005524 0 26 67 C8orf45 157777 broad.mit.edu 37 8 67803255 67803255 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:67803255T>C uc003xwz.3 + 10 1400 c.1229T>C c.(1228-1230)ATA>ACA p.I410T C8orf45_uc011lev.1_Missense_Mutation_p.I410T|C8orf45_uc011lew.1_Missense_Mutation_p.I341T|C8orf45_uc011lex.1_Missense_Mutation_p.I168T|C8orf45_uc003xwy.3_Missense_Mutation_p.I410T NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 410 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) ATCTGCTTTATAGGAGACTTG 0.368 NaN 0 0 0 0.002299 0 17 12 RIMS2 9699 broad.mit.edu 37 8 105263981 105263981 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:105263981C>T uc003yls.2 + 28 4278 c.4037C>T c.(4036-4038)CCT>CTT p.P1346L RIMS2_uc003ylp.2_Missense_Mutation_p.P1328L|RIMS2_uc003ylq.2_Missense_Mutation_p.P1142L|RIMS2_uc003ylr.2_Missense_Mutation_p.P1167L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1390 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACCTTGGCCCCTCTGACAAGA 0.448 NaN HNSCC(12;0.0054) 0 0 0 0.006214 0 7 64 CSMD3 114788 broad.mit.edu 37 8 114290867 114290867 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:114290867G>C uc003ynu.2 - 3 627 c.468C>G c.(466-468)ACC>ACG p.T156T CSMD3_uc003ynt.2_Silent_p.T116T|CSMD3_uc011lhx.1_Silent_p.T156T|CSMD3_uc010mcx.1_Silent_p.T156T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 156 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CAAAATCACTGGTCAAACGTA 0.373 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.004007 0 11 41 ANXA13 312 broad.mit.edu 37 8 124714886 124714886 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:124714886C>A uc003yqu.2 - 3 255 c.182G>T c.(181-183)GGC>GTC p.G61V ANXA13_uc003yqt.2_Missense_Mutation_p.G102V NM_004306 NP_004297 P27216 ANX13_HUMAN annexin A13 isoform a 61 Annexin 1. cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AATCACCTTGCCGTACGTTGC 0.507 NaN 1 0 1.26612e-14 0.003271 1.3821e-14 26 102 JRK 8629 broad.mit.edu 37 8 143745928 143745928 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:143745928C>T uc003ywo.2 - 3 2062 c.1548G>A c.(1546-1548)CGG>CGA p.R516R JRK_uc003ywp.2_Silent_p.R516R|JRK_uc010mew.1_Missense_Mutation_p.G517E NM_001077527 NP_001070995 jerky isoform b 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) CACGCAGCGCCCgcagctgcc 0.363 NaN 0 0 0 0.007413 0 15 27 FBXL6 26233 broad.mit.edu 37 8 145579794 145579794 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:145579794G>T uc003zcb.2 - 8 1331 c.1306C>A c.(1306-1308)CAG>AAG p.Q436K C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.Q163K|FBXL6_uc003zca.2_Missense_Mutation_p.Q430K|FBXL6_uc010mfx.2_Missense_Mutation_p.Q197K|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 isoform 436 LRR 9. proteolysis ubiquitin-protein ligase activity ovary(1)|lung(1) 2 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CACCACTTCTGGGTCAAAAAG 0.592 NaN 1 0 1.53134e-21 0.00361 1.70193e-21 58 105 INSL4 3641 broad.mit.edu 37 9 5231528 5231528 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:5231528C>T uc003ziy.2 + 1 110 c.5C>T c.(4-6)GCC>GTC p.A2V NM_002195 NP_002186 Q14641 INSL4_HUMAN insulin-like 4 precursor 2 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) TCCAGGATGGCCAGCCTGTTC 0.557 NaN 0 0 0 0.005524 0 28 31 CNTFR 1271 broad.mit.edu 37 9 34557969 34557969 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:34557969C>A uc003zup.1 - 5 614 c.333G>T c.(331-333)GAG>GAT p.E111D CNTFR_uc003zuq.1_Missense_Mutation_p.E111D NM_147164 NP_671693 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 111 Fibronectin type-III 1. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding ovary(3)|central_nervous_system(1)|skin(1) 5 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) TGAGCACAGGCTCCCGCGGCG 0.627 NaN 1 0 2.97109e-61 0.00361 3.46359e-61 132 252 FOXB2 442425 broad.mit.edu 37 9 79635344 79635344 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:79635344G>A uc004ako.1 + 1 774 c.774G>A c.(772-774)GCG>GCA p.A258A NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 258 Poly-Ala. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 0 ctgccgccgcggccgcGGCGT 0.453 NaN 0 0 0 0.00499 0 16 20 SYK 6850 broad.mit.edu 37 9 93629433 93629433 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:93629433A>G uc004aqz.2 + 7 1072 c.867A>G c.(865-867)ATA>ATG p.I289M SYK_uc004aqy.2_Missense_Mutation_p.I289M|SYK_uc004ara.2_Intron|SYK_uc004arb.2_Intron|SYK_uc004arc.2_Missense_Mutation_p.I289M|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 289 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 CGGGTGGAATAATCTCAAGAA 0.463 NaN T ETV6|ITK MDS|peripheral T-cell lymphoma 0 0 0 0.006999 0 33 38 WNK2 65268 broad.mit.edu 37 9 96051184 96051184 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:96051184C>G uc004ati.1 + 20 4259 c.4259C>G c.(4258-4260)CCT>CGT p.P1420R WNK2_uc011lud.1_Missense_Mutation_p.P1383R|WNK2_uc004atj.2_Missense_Mutation_p.P1383R|WNK2_uc004atk.2_Missense_Mutation_p.P1020R|WNK2_uc004atl.1_5'UTR NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1420 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 CCCCCAGCCCCTTTGGCCCCC 0.652 NaN 0 0 0 0.002299 0 20 13 GRIN3A 116443 broad.mit.edu 37 9 104499615 104499615 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:104499615A>G uc004bbp.1 - 1 1248 c.647T>C c.(646-648)CTG>CCG p.L216P GRIN3A_uc004bbq.1_Missense_Mutation_p.L216P NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 216 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGGAATGTGCAGGACTAAGCT 0.627 NaN 0 0 0 0.00361 0 38 110 ABCA1 19 broad.mit.edu 37 9 107593948 107593948 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:107593948C>T uc004bcl.2 - 13 1983 c.1670G>A c.(1669-1671)CGA>CAA p.R557Q NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 557 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AATGTCCATTCGGATCTTGTA 0.488 NaN 0 0 0 0.001855 0 13 14 ZNF462 58499 broad.mit.edu 37 9 109694734 109694734 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:109694734G>T uc004bcz.2 + 5 6309 c.6020G>T c.(6019-6021)CGT>CTT p.R2007L ZNF462_uc010mto.2_Missense_Mutation_p.R1916L|ZNF462_uc004bda.2_Missense_Mutation_p.R1915L|ZNF462_uc011lvz.1_5'Flank NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2007 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CAGGGGCTGCGTTCTCATGAG 0.537 NaN 1 0 6.44725e-10 0.002299 6.79575e-10 20 59 C9orf152 401546 broad.mit.edu 37 9 112963549 112963549 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:112963549G>T uc011lwk.1 - 2 953 c.399C>A c.(397-399)GAC>GAA p.D133E NM_001012993 NP_001013011 Q5JTZ5 CI152_HUMAN hypothetical protein LOC401546 133 0 GATGACTGGTGTCCTGGGGGG 0.557 NaN 1 0 2.51541e-25 0.004878 2.8249e-25 31 129 TNC 3371 broad.mit.edu 37 9 117846585 117846585 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:117846585G>T uc004bjj.3 - 4 2396 c.2034C>A c.(2032-2034)ATC>ATA p.I678I TNC_uc010mvf.2_Silent_p.I678I NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 678 Fibronectin type-III 1. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GCTCCTGGATGATGGTGGACG 0.572 NaN 1 0 3.41278e-10 0.00499 3.62397e-10 14 43 MEGF9 1955 broad.mit.edu 37 9 123421791 123421791 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:123421791C>T uc004bkj.1 - 4 775 c.775G>A c.(775-777)GGG>AGG p.G259R MEGF9_uc011lyb.1_Missense_Mutation_p.G214R|MEGF9_uc004bkk.3_Missense_Mutation_p.G214R NM_001080497 NP_001073966 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 222 Laminin EGF-like 1.|Extracellular (Potential). integral to membrane calcium ion binding 0 TCACACTGCCCTGTGGTCTGG 0.478 NaN 0 0 0 0.006214 0 8 11 FAM129B 64855 broad.mit.edu 37 9 130280165 130280165 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:130280165C>T uc004brh.2 - 6 847 c.645G>A c.(643-645)ATG>ATA p.M215I FAM129B_uc004bri.2_Missense_Mutation_p.M202I|FAM129B_uc004brj.3_Missense_Mutation_p.M215I NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 215 protein binding 0 ACTGTCGGTACATGCGGATGG 0.612 NaN 0 0 0 0.005443 0 21 30 CLIC3 9022 broad.mit.edu 37 9 139890163 139890163 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:139890163C>G uc004ckj.1 - 2 109 c.80G>C c.(79-81)CGG>CCG p.R27P NM_004669 NP_004660 O95833 CLIC3_HUMAN chloride intracellular channel 3 27 Required for insertion into the membrane (By similarity).|Helical; (Potential).|GST N-terminal. signal transduction chloride channel complex|cytoplasm|nucleus protein binding|voltage-gated chloride channel activity 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CATGAAGAGCCGCTGGCAGGA 0.697 NaN 0 0 0 0.00245 0 11 31 GRIN1 2902 broad.mit.edu 37 9 140052946 140052946 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:140052946G>T uc004clk.2 + 7 1414 c.1084G>T c.(1084-1086)GTG>TTG p.V362L GRIN1_uc004cli.1_Missense_Mutation_p.V37L|GRIN1_uc004clj.1_Missense_Mutation_p.V359L|GRIN1_uc004cll.2_Missense_Mutation_p.V362L|GRIN1_uc004clm.2_Missense_Mutation_p.V362L|GRIN1_uc004cln.2_Missense_Mutation_p.V380L|GRIN1_uc004clo.2_Missense_Mutation_p.V380L NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 362 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCGCAAGCTGGTGCAAGTGGG 0.617 NaN 1 0 1.16021e-09 0.007291 1.21992e-09 25 80 SSNA1 8636 broad.mit.edu 37 9 140083594 140083594 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:140083594G>A uc004cls.2 + 2 254 c.129G>A c.(127-129)CTG>CTA p.L43L ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank NM_003731 NP_003722 O43805 SSNA1_HUMAN nuclear autoantigen of 14 kDa 43 Potential. G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus breast(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087) AGCAGCGGCTGCAGAATGAGG 0.657 NaN 0 0 0 0.00333 0 23 30 ARRDC1 92714 broad.mit.edu 37 9 140508609 140508609 + Silent SNP C C G rs145510266 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:140508609C>G uc004cns.2 + 5 635 c.561C>G c.(559-561)GCC>GCG p.A187A ARRDC1_uc004cnt.2_Silent_p.A62A|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Silent_p.A167A|ARRDC1_uc004cnw.2_Silent_p.A62A|ARRDC1_uc004cnp.1_Silent_p.A187A|ARRDC1_uc004cnq.1_Silent_p.A169A|ARRDC1_uc011mfb.1_Silent_p.A62A|ARRDC1_uc004cnx.1_Silent_p.A62A|ARRDC1_uc004cny.2_RNA NM_152285 NP_689498 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 187 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) AGCTGCATGCCGACGTTGAGA 0.642 NaN 0 0 0 0.00361 0 340 356 FANCB 2187 broad.mit.edu 37 X 14863348 14863348 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chrX:14863348C>A uc004cwg.1 - 8 1825 c.1557G>T c.(1555-1557)CGG>CGT p.R519R FANCB_uc004cwh.1_Silent_p.R519R NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 519 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) ACTTTAGAAGCCGAAATCTGG 0.388 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 1 0 4.35082e-09 0.010504 4.56357e-09 19 6 KDM6A 7403 broad.mit.edu 37 X 44922670 44922670 + Nonsense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 A T A A Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chrX:44922670A>T uc004dge.3 + 16 1906 c.1531A>T c.(1531-1533)AGA>TGA p.R511* KDM6A_uc010nhk.2_Nonsense_Mutation_p.R477*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R563*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R466*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R518*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R215*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R150* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 511 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TTGACAGATGAGACCAACAGG 0.433 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.00361 0 42 8 AKAP4 8852 broad.mit.edu 37 X 49957631 49957631 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chrX:49957631A>C uc004dow.1 - 5 1857 c.1733T>G c.(1732-1734)ATG>AGG p.M578R AKAP4_uc004dov.1_Missense_Mutation_p.M195R|AKAP4_uc010njp.1_Missense_Mutation_p.M400R|AKAP4_uc004dou.1_Missense_Mutation_p.M569R NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 578 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) ACTCTGAGCCATATAGCCCAT 0.483 NaN 0 0 0 0.004007 0 16 8 MAP3K6 9064 broad.mit.edu 37 1 27683217 27683233 + Frame_Shift_Del DEL GTGAGACCGCCTCCTTC GTGAGACCGCCTCCTTC - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:27683217_27683233delGTGAGACCGCCTCCTTC uc001bny.1 - 25 3621_3637 c.3372_3388delGAAGGAGGCGGTCTCAC c.(3370-3390)GAGAAGGAGGCGGTCTCACCGfs p.E1124fs MAP3K6_uc009vsw.1_Frame_Shift_Del_p.E1116fs NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 1124_1130 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCTGACCTCGGTGAGACCGCCTCCTTCTCCACCTCTG 0.664 NaN NaN NaN NaN NaN NaN 7 64 --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:152082957_152082959delCTC uc001ezp.2 - 2 2734_2736 c.2734_2736delGAG c.(2734-2736)GAGdel p.E912del TCHH_uc009wne.1_In_Frame_Del_p.E912del NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 912 4-1.|10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 NaN NaN NaN NaN NaN NaN 10 170 --- --- IFIT2 3433 broad.mit.edu 37 10 91065822 91065822 + Frame_Shift_Del DEL A A - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:91065822delA uc009xts.2 + 2 284 c.109delA c.(109-111)AAAfs p.K37fs LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 37 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) TTTTGAAGACAAAGTATTTTA 0.438 NaN NaN NaN NaN NaN NaN 22 13 --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:66625231_66625233delCTG uc001ojr.2 + 1 356_358 c.16_18delCTG c.(16-18)CTGdel p.L10del PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_In_Frame_Del_p.L10del|LRFN4_uc001ojs.2_In_Frame_Del_p.L10del NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 10 integral to membrane 0 CCCGCCGCTCCTGCTGCTGCTGC 0.719 NaN NaN NaN NaN NaN NaN 7 110 --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:6649704_6649706delGGC uc001qpd.1 - 9 1657_1659 c.1623_1625delGCC c.(1621-1626)CCGCCA>CCA p.541_542PP>P IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_In_Frame_Del_p.181_182PP>P|IFFO1_uc001qpb.1_In_Frame_Del_p.218_219PP>P|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_In_Frame_Del_p.553_554PP>P|IFFO1_uc001qpf.1_In_Frame_Del_p.544_545PP>P|IFFO1_uc001qoz.1_In_Frame_Del_p.182_183PP>P|IFFO1_uc001qpc.1_In_Frame_Del_p.545_546PP>P|IFFO1_uc001qpg.2_In_Frame_Del_p.R181del NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 541_542 Poly-Pro. intermediate filament 0 AGCCTCGCTTGGCGGCGGCGGCG 0.601 NaN NaN NaN NaN NaN NaN 14 188 --- --- CLDN10 9071 broad.mit.edu 37 13 96205153 96205168 + Frame_Shift_Del DEL TGTGGAAGGCGTGCGT TGTGGAAGGCGTGCGT - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:96205153_96205168delTGTGGAAGGCGTGCGT uc001vmh.2 + 1 207_222 c.146_161delTGTGGAAGGCGTGCGT c.(145-162)CTGTGGAAGGCGTGCGTTfs p.L49fs CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron NM_006984 NP_008915 P78369 CLD10_HUMAN claudin 10 isoform b 49_54 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) TGGGCCAACCTGTGGAAGGCGTGCGTTACCGACTCC 0.644 NaN NaN NaN NaN NaN NaN 24 210 --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:108518687_108518689delCTG uc001vql.2 - 1 772_774 c.256_258delCAG c.(256-258)CAGdel p.Q86del NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding skin(1) 1 gccgctgcctctgctgctgctgc 0.404 NaN NaN NaN NaN NaN NaN 8 85 --- --- CHRNA3 1136 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs66793222 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:78913068_78913070delCAG uc002bec.2 - 1 253_255 c.67_69delCTG c.(67-69)CTGdel p.L23del CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_In_Frame_Del_p.L23del NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 gcagcagagacagcagcagcagc 0.601 NaN NaN NaN NaN NaN NaN 4 5 --- --- ZNF598 90850 broad.mit.edu 37 16 2049883 2049885 + In_Frame_Del DEL TCC TCC - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:2049883_2049885delTCC uc002cof.1 - 11 1680_1682 c.1665_1667delGGA c.(1663-1668)GAGGAC>GAC p.E555del ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 555 intracellular zinc ion binding lung(1)|breast(1) 2 CGGGCCGCCGTCCTCCTCCTCCT 0.709 NaN NaN NaN NaN NaN NaN 4 6 --- --- ABCA3 21 broad.mit.edu 37 16 2369649 2369651 + In_Frame_Del DEL AGC AGC - rs145342500 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:2369649_2369651delAGC uc002cpy.1 - 8 1516_1518 c.804_806delGCT c.(802-807)CTGCTC>CTC p.268_269LL>L ABCA3_uc010bsk.1_In_Frame_Del_p.268_269LL>L|ABCA3_uc010bsl.1_In_Frame_Del_p.268_269LL>L NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 268_269 Helical; (Potential). response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GGTGAAGCTGAGCAGCAGCAGCA 0.611 NaN NaN NaN NaN NaN NaN 9 367 --- --- IL27 246778 broad.mit.edu 37 16 28518125 28518126 + Frame_Shift_Ins INS - - C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:28518125_28518126insC uc002dqc.2 - 1 30_31 c.7_8insG c.(7-9)CAGfs p.Q3fs uc010vct.1_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN interleukin 27 precursor 3 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding 0 GCCTGCCGTCTGGCCCATGGCG 0.629 NaN NaN NaN NaN NaN NaN 40 119 --- --- SEPT1 1731 broad.mit.edu 37 16 30390387 30390388 + Frame_Shift_Ins INS - - AGCG TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:30390387_30390388insAGCG uc002dxy.2 - 10 1064_1065 c.877_878insCGCT c.(877-879)TGCfs p.C293fs SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Frame_Shift_Ins_p.C118fs NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 293 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) GCTCTGTAGGCAGCGGGCCCGG 0.658 NaN NaN NaN NaN NaN NaN 65 108 --- --- NOTCH3 4854 broad.mit.edu 37 19 15290217 15290223 + Frame_Shift_Del DEL GGTCAAT GGTCAAT - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:15290217_15290223delGGTCAAT uc002nan.2 - 21 3488_3494 c.3412_3418delATTGACC c.(3412-3420)ATTGACCTCfs p.I1138fs NOTCH3_uc002nao.1_Frame_Shift_Del_p.I1086fs NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1138_1140 Extracellular (Potential).|EGF-like 29; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGGCCACGAGGTCAATGCATGAACCC 0.594 NaN NaN NaN NaN NaN NaN 63 111 --- --- ESPNL 339768 broad.mit.edu 37 2 239039530 239039530 + Frame_Shift_Del DEL G G - rs115923307 by1000genomes TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:239039530delG uc002vxq.3 + 9 2285 c.2175delG c.(2173-2175)GCGfs p.A725fs ESPNL_uc010fyw.2_Frame_Shift_Del_p.A421fs NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 725 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CATCAGAGGCGGGTGCCGCAG 0.682 NaN NaN NaN NaN NaN NaN 2 4 --- --- LAMA5 3911 broad.mit.edu 37 20 60895697 60895698 + Frame_Shift_Ins INS - - G rs2297587 by1000genomes TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:60895697_60895698insG uc002ycq.2 - 50 6743_6744 c.6676_6677insC c.(6676-6678)CGCfs p.R2226fs NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2226 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTCTCATGGCGGGGGCCCAGG 0.708 NaN NaN NaN NaN NaN NaN 10 55 --- --- PDE5A 8654 broad.mit.edu 37 4 120446823 120446823 + Frame_Shift_Del DEL G G - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:120446823delG uc003idh.2 - 12 1815 c.1660delC c.(1660-1662)CTTfs p.L554fs uc003ide.3_Intron|PDE5A_uc003idf.2_Frame_Shift_Del_p.L512fs|PDE5A_uc003idg.2_Frame_Shift_Del_p.L502fs|uc003idi.3_Intron NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 554 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) GTAATTTTAAGGGTCTGGGCA 0.408 NaN NaN NaN NaN NaN NaN 15 47 --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:91296568_91296570delGAG uc003pnz.1 - 1 195_197 c.33_35delCTC c.(31-36)TCCTCG>TCG p.11_12SS>S MAP3K7_uc003poa.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003pob.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003poc.1_In_Frame_Del_p.11_12SS>S NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 11_12 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 NaN NaN NaN NaN NaN NaN 9 99 --- --- SMPD2 6610 broad.mit.edu 37 6 109765030 109765042 + Frame_Shift_Del DEL GGCCCAGGATCTG GGCCCAGGATCTG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:109765030_109765042delGGCCCAGGATCTG uc003pti.2 + 10 1588_1600 c.1194_1206delGGCCCAGGATCTG c.(1192-1206)GAGGCCCAGGATCTGfs p.E398fs NM_003080 NP_003071 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral 398_402 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) GGGCAAGGGAGGCCCAGGATCTGGGCCCAGAGC 0.568 NaN NaN NaN NaN NaN NaN 9 72 --- --- GRM1 2911 broad.mit.edu 37 6 146755399 146755401 + In_Frame_Del DEL CAG CAG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:146755399_146755401delCAG uc010khw.1 + 9 3522_3524 c.3052_3054delCAG c.(3052-3054)CAGdel p.Q1022del GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1022 Gln/Pro-rich.|Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCTCCTCTCCAGCAGCAGCAGC 0.66 NaN NaN NaN NaN NaN NaN 11 471 --- --- EZR 7430 broad.mit.edu 37 6 159188477 159188477 + Frame_Shift_Del DEL G G - rs139613796 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:159188477delG uc003qrt.3 - 12 1627 c.1412delC c.(1411-1413)CCGfs p.P471fs EZR_uc011efr.1_Frame_Shift_Del_p.P78fs|EZR_uc011efs.1_Frame_Shift_Del_p.P439fs|EZR_uc003qru.3_Frame_Shift_Del_p.P471fs NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 471 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TGGTGGGGGCGGGGGTGCTGT 0.597 NaN NaN NaN NaN NaN NaN 56 196 --- --- RHBDD2 57414 broad.mit.edu 37 7 75513098 75513100 + In_Frame_Del DEL GAG GAG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:75513098_75513100delGAG uc003udw.1 + 3 753_755 c.669_671delGAG c.(667-672)ATGAGG>ATG p.R225del RHBDD2_uc003udv.1_In_Frame_Del_p.R84del NM_001040456 NP_001035546 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 isoform a 225 integral to membrane serine-type endopeptidase activity 0 TCAGCCTGATGAGGAGGATATCC 0.527 NaN NaN NaN NaN NaN NaN 68 176 --- --- FAM86B1 85002 broad.mit.edu 37 8 12041205 12041205 + Frame_Shift_Del DEL C C - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:12041205delC uc010lse.2 - 7 846 c.801delG c.(799-801)GGGfs p.G267fs FAM66D_uc011kxp.1_Intron|FAM86B1_uc003wvf.3_RNA|FAM86B1_uc003wvi.3_Frame_Shift_Del_p.D121fs|FAM86B1_uc010lsd.2_RNA|FAM86B1_uc003wvh.3_Frame_Shift_Del_p.G110fs|FAM86B1_uc011kxq.1_Frame_Shift_Del_p.D121fs|FAM86B1_uc010lsf.2_Frame_Shift_Del_p.G110fs|FAM86B1_uc003wvj.3_Frame_Shift_Del_p.G201fs|FAM86B1_uc003wvk.3_Frame_Shift_Del_p.G301fs|FAM86B1_uc010lsg.2_RNA|FAM86B1_uc003wvl.3_RNA NM_001083537 NP_001077006 Q8N7N1 F86B1_HUMAN hypothetical protein LOC85002 267 0 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.0965) CCCATCTGATCCCATCCCGGC 0.552 NaN NaN NaN NaN NaN NaN 4 2 --- --- SLC46A2 57864 broad.mit.edu 37 9 115652137 115652137 + Frame_Shift_Del DEL T T - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:115652137delT uc004bgk.2 - 1 1057 c.825delA c.(823-825)AAAfs p.K275fs NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 275 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 GGGGTTTTGCTTTTCCAGGAG 0.537 NaN NaN NaN NaN NaN NaN 36 84 --- --- NOTCH1 4851 broad.mit.edu 37 9 139390945 139390947 + In_Frame_Del DEL GTG GTG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:139390945_139390947delGTG uc004chz.2 - 34 7244_7246 c.7244_7246delCAC c.(7243-7248)CCACAG>CAG p.P2415del NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2415 Cytoplasmic (Potential).|Poly-Pro. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.Q2417*(1) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCGGCTGTGGTGGTGGTGG 0.65 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) NaN NaN NaN NaN NaN 8 157 --- --- TAF9B 51616 broad.mit.edu 37 X 77387128 77387139 + In_Frame_Del DEL ATCATCTTCATG ATCATCTTCATG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chrX:77387128_77387139delATCATCTTCATG uc004eda.2 - 7 795_806 c.724_735delCATGAAGATGAT c.(724-735)CATGAAGATGATdel p.HEDD242del NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN transcription associated factor 9B 242_245 Poly-Asp. negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding 0 CATTGTCATCATCATCTTCATGTTTTCTCTTC 0.354 NaN NaN NaN NaN NaN NaN 19 11 --- ---