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 C1orf86 199990 broad.mit.edu 37 1 2121153 2121153 + Missense_Mutation SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:2121153A>G uc001aiy.2 - 4 564 c.538T>C c.(538-540)TGG>CGG p.W180R C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron|uc001aiz.1_5'Flank NM_182533 NP_872339 Q6NZ36 CA086_HUMAN hypothetical protein LOC199990 isoform 2 180 0 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GGCGCTCACCACGTCACGTCT 0.706 NaN 0 0 0 0.020292 0 12 40 SYF2 25949 broad.mit.edu 37 1 25551554 25551554 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:25551554G>A uc001bjt.1 - 6 560 c.505C>T c.(505-507)CAT>TAT p.H169Y SYF2_uc001bju.1_Missense_Mutation_p.H127Y NM_015484 NP_056299 O95926 SYF2_HUMAN SYF2 homolog, RNA splicing factor isoform 1 169 catalytic step 2 spliceosome 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) TGTGTTCCATGAAGAAGACTA 0.373 NaN 0 0 0 0.036044 0 33 79 PIGV 55650 broad.mit.edu 37 1 27124128 27124128 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:27124128G>A uc001bmz.2 + 4 1606 c.1275G>A c.(1273-1275)GAG>GAA p.E425E PIGV_uc001bmy.2_Silent_p.E190E|PIGV_uc009vso.2_Missense_Mutation_p.A419T|PIGV_uc010ofg.1_Silent_p.E190E|PIGV_uc001bna.2_Silent_p.E425E NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 425 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) AGGATCAAGAGCCGCTGTTGA 0.488 NaN 0 0 0 0.016522 0 23 60 ZMYM4 9202 broad.mit.edu 37 1 35864515 35864515 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:35864515C>T uc001byt.2 + 22 3384 c.3304C>T c.(3304-3306)CCA>TCA p.P1102S ZMYM4_uc009vuu.2_Missense_Mutation_p.P1070S|ZMYM4_uc001byu.2_Missense_Mutation_p.P778S|ZMYM4_uc009vuv.2_Missense_Mutation_p.P841S NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 1102 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTATCTACTCCACATAGCTG 0.398 NaN 0 0 0 0.008871 0 14 84 LRRC41 10489 broad.mit.edu 37 1 46746098 46746098 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:46746098C>T uc001cpn.2 - 6 1935 c.1891G>A c.(1891-1893)GAT>AAT p.D631N LRRC41_uc010omb.1_Missense_Mutation_p.D631N NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 631 LRR 4. ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) AGCCCAAAATCCTGGGGAGAG 0.572 NaN 0 0 0 0.012319 0 19 103 OSBPL9 114883 broad.mit.edu 37 1 52251500 52251500 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:52251500C>G uc001cst.2 + 21 1869 c.1850C>G c.(1849-1851)TCT>TGT p.S617C OSBPL9_uc001css.2_Missense_Mutation_p.S622C|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.S618C|OSBPL9_uc001csu.2_Missense_Mutation_p.S627C|OSBPL9_uc001csv.2_Missense_Mutation_p.S452C|OSBPL9_uc001csw.2_Missense_Mutation_p.S604C|OSBPL9_uc001csy.2_Missense_Mutation_p.S439C|OSBPL9_uc001csz.2_Missense_Mutation_p.S439C|OSBPL9_uc001cta.2_Missense_Mutation_p.S507C|OSBPL9_uc001ctb.2_Missense_Mutation_p.S402C NM_024586 NP_078862 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 isoform e 617 lipid transport lipid binding central_nervous_system(1) 1 GACAAGAAGTCTTTTTGCTCA 0.383 NaN 0 0 0 0.037714 0 23 113 ZCCHC11 23318 broad.mit.edu 37 1 52991393 52991393 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:52991393G>A uc001ctx.2 - 2 794 c.560C>T c.(559-561)TCC>TTC p.S187F ZCCHC11_uc001cty.2_Missense_Mutation_p.S187F|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S187F|ZCCHC11_uc009vze.1_Missense_Mutation_p.S187F|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.S187F|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.S187F NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 187 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 AGAAGTAAAGGAGCTTGGAAT 0.413 NaN 0 0 0 0.012213 0 29 144 DOCK7 85440 broad.mit.edu 37 1 62993831 62993831 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:62993831G>A uc001daq.2 - 31 3961 c.3927C>T c.(3925-3927)CTC>CTT p.L1309L DOCK7_uc001dan.2_Silent_p.L1170L|DOCK7_uc001dao.2_Silent_p.L1170L|DOCK7_uc001dap.2_Silent_p.L1278L|DOCK7_uc001dam.2_Silent_p.L489L|DOCK7_uc010oov.1_Intron NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1309 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CCGTTGACGTGAGGAGGAAAC 0.413 NaN 0 0 0 0.013537 0 11 58 DNAJB4 11080 broad.mit.edu 37 1 78479241 78479241 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:78479241C>A uc001dij.2 + 2 877 c.718C>A c.(718-720)CAT>AAT p.H240N DNAJB4_uc010orn.1_Missense_Mutation_p.H125N NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 240 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding 0 AGACAAAGATCATCCAAAATT 0.323 NaN 1 0 9.57634e-11 0.01892 1.06179e-10 20 92 IFI44L 10964 broad.mit.edu 37 1 79102774 79102774 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:79102774C>G uc010oro.1 + 6 1113 c.934C>G c.(934-936)CTG>GTG p.L312V IFI44L_uc010orp.1_Missense_Mutation_p.L49V|IFI44L_uc010orq.1_Missense_Mutation_p.L49V NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 312 cytoplasm 0 CTCTCCATCTCTGAAGGACAG 0.368 NaN 0 0 0 0.030466 0 29 158 CCBL2 56267 broad.mit.edu 37 1 89414843 89414843 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:89414843C>T uc001dmp.2 - 11 1449 c.1072G>A c.(1072-1074)GAA>AAA p.E358K CCBL2_uc001dmq.2_Missense_Mutation_p.E324K|CCBL2_uc001dmr.2_Missense_Mutation_p.E194K NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 358 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCAACACTTTCAAGTAAACGT 0.373 NaN 0 0 0 0.012319 0 18 73 ABCD3 5825 broad.mit.edu 37 1 94933515 94933515 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:94933515G>C uc001dqn.3 + 4 389 c.287G>C c.(286-288)CGA>CCA p.R96P ABCD3_uc001dqm.3_Missense_Mutation_p.R96P|ABCD3_uc010oto.1_Missense_Mutation_p.R120P|ABCD3_uc010otp.1_Missense_Mutation_p.R23P|ABCD3_uc009wdr.2_Missense_Mutation_p.R96P NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 96 ABC transmembrane type-1.|Targeting to peroxisomes.|Helical; (Potential).|Interaction with PEX19. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) CTGGTGTCTCGAACATATTGT 0.313 NaN 0 0 0 0.008291 0 7 55 COL11A1 1301 broad.mit.edu 37 1 103483426 103483426 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:103483426G>A uc001dul.2 - 11 1681 c.1363C>T c.(1363-1365)CCT>TCT p.P455S COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P467S|COL11A1_uc001dun.2_Missense_Mutation_p.P416S|COL11A1_uc009weh.2_Missense_Mutation_p.P339S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 455 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGACCTGGAGGACCCATAATA 0.418 NaN 0 0 0 0.01441 0 44 94 NTNG1 22854 broad.mit.edu 37 1 108023313 108023313 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:108023313G>T uc001dvh.3 + 8 2189 c.1471G>T c.(1471-1473)GCA>TCA p.A491S NTNG1_uc001dvf.3_Missense_Mutation_p.A432S|NTNG1_uc010out.1_Missense_Mutation_p.A457S|NTNG1_uc001dvc.3_Missense_Mutation_p.A390S|NTNG1_uc001dvi.2_Silent_p.P58P|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.R53L NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 491 axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GTGCCCGGCCGCATACACGGG 0.687 NaN 1 0 1.58986e-06 0.008291 1.67186e-06 7 50 SYT6 148281 broad.mit.edu 37 1 114640500 114640500 + Splice_Site SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:114640500C>G uc001eev.2 - 6 1360 c.1110_splice c.e6-1 p.R370_splice SYT6_uc001eeu.2_Splice_Site_p.R15_splice NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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) GTGGCCCACTCTGAGGGAGAA 0.577 NaN 0 0 0 0.010504 0 15 77 WDR3 10885 broad.mit.edu 37 1 118496158 118496158 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:118496158G>A uc010oxe.1 + 21 2328 c.2262G>A c.(2260-2262)GTG>GTA p.V754V WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 754 nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TTGAAACAGTGAAAGCAGTAA 0.333 NaN 0 0 0 0.010504 0 17 40 WDR3 10885 broad.mit.edu 37 1 118496687 118496687 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:118496687G>A uc010oxe.1 + 22 2392 c.2326G>A c.(2326-2328)GAA>AAA p.E776K WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 776 nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AAAAATGAAGGAACACAAAGC 0.398 NaN 0 0 0 0.017118 0 25 56 RUSC1 23623 broad.mit.edu 37 1 155291967 155291967 + Nonsense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:155291967C>T uc001fkj.2 + 2 632 c.403C>T c.(403-405)CAG>TAG p.Q135* RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Nonsense_Mutation_p.Q135*|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 135 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TGCCCACCCTCAGCCCAGTAT 0.622 NaN 0 0 0 0.016723 0 11 70 GON4L 54856 broad.mit.edu 37 1 155791331 155791331 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:155791331G>A uc001flz.2 - 5 994 c.897C>T c.(895-897)ATC>ATT p.I299I GON4L_uc001fly.1_Silent_p.I299I|GON4L_uc009wrh.1_Silent_p.I299I|GON4L_uc001fma.1_Silent_p.I299I|GON4L_uc001fmc.2_Silent_p.I299I|GON4L_uc001fmd.3_Silent_p.I299I|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Silent_p.I127I|GON4L_uc001fmf.2_5'UTR NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 299 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) GTTCATTTGTGATTACTTCCT 0.393 NaN 0 0 0 0.028581 0 16 72 TMCO1 54499 broad.mit.edu 37 1 165737466 165737466 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:165737466C>G uc001gdj.3 - 2 260 c.111G>C c.(109-111)AAG>AAC p.K37N TMCO1_uc001gdl.3_5'UTR|TMCO1_uc001gdm.3_5'UTR|TMCO1_uc001gdk.3_Missense_Mutation_p.K25N|TMCO1_uc001gdn.3_RNA|uc001gdo.2_5'Flank NM_019026 NP_061899 Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 37 Potential. endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCTTCAGTCTCTTGTACTTGT 0.363 NaN 0 0 0 0.00308 0 6 41 F5 2153 broad.mit.edu 37 1 169551671 169551671 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:169551671G>A uc001ggg.1 - 2 393 c.248C>T c.(247-249)TCA>TTA p.S83L F5_uc010plr.1_Intron NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 83 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGGCTTACCTGAAATGGTAGA 0.264 NaN 0 0 0 0.00308 0 8 16 PAPPA2 60676 broad.mit.edu 37 1 176564245 176564245 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:176564245C>T uc001gkz.2 + 3 2669 c.1505C>T c.(1504-1506)ACA>ATA p.T502I PAPPA2_uc001gky.1_Missense_Mutation_p.T502I|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 502 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGTGGGCAAACAGTCTGTGAC 0.522 NaN 0 0 0 0.014758 0 4 39 UCHL5 51377 broad.mit.edu 37 1 193020927 193020927 + Nonsense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:193020927C>A uc001gsm.2 - 2 228 c.97G>T c.(97-99)GAA>TAA p.E33* UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Nonsense_Mutation_p.E33*|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Nonsense_Mutation_p.E33*|UCHL5_uc001gsq.2_Nonsense_Mutation_p.E33*|UCHL5_uc010pow.1_5'UTR|UCHL5_uc010pox.1_5'UTR NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 33 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|ovary(1) 3 CATATTTCTTCTACTTGGGCT 0.249 NaN 1 0 3.90053e-15 0.012213 4.36431e-15 23 101 CRB1 23418 broad.mit.edu 37 1 197297651 197297651 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:197297651C>T uc001gtz.2 + 2 305 c.170C>T c.(169-171)TCA>TTA p.S57L CRB1_uc010poz.1_5'UTR|CRB1_uc001gty.1_Missense_Mutation_p.S57L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S57L|CRB1_uc010ppb.1_Missense_Mutation_p.S57L NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 57 Extracellular (Potential).|EGF-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 TGTTCTTGTTCAGACACAGCC 0.403 NaN 0 0 0 0.004482 0 9 44 ZNF281 23528 broad.mit.edu 37 1 200377122 200377122 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:200377122C>T uc001gve.2 - 2 1819 c.1712G>A c.(1711-1713)GGT>GAT p.G571D ZNF281_uc001gvf.1_Missense_Mutation_p.G571D|ZNF281_uc001gvg.1_Missense_Mutation_p.G535D NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 571 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 AACACTGACACCTGCAGACTG 0.413 NaN 0 0 0 0.02938 0 5 18 MYOG 4656 broad.mit.edu 37 1 203054922 203054922 + Silent SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:203054922C>A uc001gzd.2 - 1 456 c.168G>T c.(166-168)GGG>GGT p.G56G NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 56 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 GCTCGGGGGTCCCCAGCCCCT 0.697 NaN 1 0 1.28384e-07 0.012319 1.37769e-07 17 48 OPTC 26254 broad.mit.edu 37 1 203465269 203465269 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:203465269C>T uc001gzu.1 + 2 252 c.136C>T c.(136-138)CTG>TTG p.L46L NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 46 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) AGTTCTGCCTCTGCGGAATGA 0.542 NaN 0 0 0 0.007413 0 16 51 NFASC 23114 broad.mit.edu 37 1 204985457 204985457 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:204985457G>A uc001hbj.2 + 30 3841 c.3513G>A c.(3511-3513)CTG>CTA p.L1171L NFASC_uc010pra.1_Silent_p.L1105L|NFASC_uc001hbi.2_Silent_p.L1100L|NFASC_uc010prb.1_Silent_p.L1120L|NFASC_uc010prc.1_Silent_p.L671L|NFASC_uc001hbl.1_Silent_p.L247L|NFASC_uc001hbm.1_Silent_p.L194L|NFASC_uc009xbh.1_Missense_Mutation_p.C26Y|NFASC_uc001hbo.1_Missense_Mutation_p.C47Y NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1278 Cytoplasmic (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACAAGCCCCTGCAGGGCAGTC 0.592 NaN 0 0 0 0.01441 0 54 156 FAIM3 9214 broad.mit.edu 37 1 207087417 207087417 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:207087417G>A uc001hey.2 - 2 239 c.60C>T c.(58-60)CTC>CTT p.L20L FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_5'UTR|FAIM3_uc010psb.1_Silent_p.L20L NM_005449 NP_005440 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 isoform a 20 Extracellular (Potential). anti-apoptosis|cellular defense response integral to membrane central_nervous_system(1) 1 Breast(84;0.201) TTACTTCTGGGAGGATCCTCA 0.418 NaN 0 0 0 0.008871 0 19 86 CR2 1380 broad.mit.edu 37 1 207640030 207640030 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:207640030G>T uc001hfw.2 + 2 312 c.218G>T c.(217-219)GGA>GTA p.G73V CR2_uc001hfv.2_Missense_Mutation_p.G73V|CR2_uc009xch.2_Missense_Mutation_p.G73V NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 73 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 AAAGTGGATGGAACCTGGGAT 0.408 NaN 1 0 3.27435e-08 0.020292 3.5448e-08 14 60 MARK1 4139 broad.mit.edu 37 1 220792050 220792050 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:220792050C>A uc001hmn.3 + 9 1459 c.862C>A c.(862-864)CTG>ATG p.L288M MARK1_uc009xdw.2_Missense_Mutation_p.L288M|MARK1_uc010pun.1_Missense_Mutation_p.L288M|MARK1_uc001hmm.3_Missense_Mutation_p.L266M NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 288 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TGAAAATCTTCTGAAGAAATT 0.328 NaN 1 0 0.00010058 0.013537 0.000103688 10 52 TTC13 79573 broad.mit.edu 37 1 231076227 231076227 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:231076227G>A uc001huf.3 - 7 779 c.748C>T c.(748-750)CGG>TGG p.R250W TTC13_uc009xfi.2_Missense_Mutation_p.R197W|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R197W|TTC13_uc009xfk.1_Missense_Mutation_p.R140W NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 250 TPR 3. binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CTGTACAGCCGTGCTGAGGGC 0.423 NaN 0 0 0 0.020292 0 12 52 KCNK1 3775 broad.mit.edu 37 1 233807173 233807173 + Missense_Mutation SNP C C T rs149408317 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:233807173C>T uc010pxo.1 + 3 1076 c.908C>T c.(907-909)TCG>TTG p.S303L KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA NM_002245 NP_002236 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 303 Cytoplasmic (Potential). voltage-gated potassium channel complex inward rectifier potassium channel activity central_nervous_system(1) 1 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCCTTCTCCTCGATCACAGAC 0.493 NaN 0 0 0 0.024245 0 15 31 CEP170 9859 broad.mit.edu 37 1 243349256 243349256 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:243349256G>A uc001hzs.2 - 10 1799 c.1391C>T c.(1390-1392)TCA>TTA p.S464L CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 464 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) AAGACTCCCTGAACTTCTTAA 0.418 NaN 0 0 0 0.009096 0 4 43 KIF26B 55083 broad.mit.edu 37 1 245582962 245582962 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:245582962G>A uc001ibf.1 + 4 1521 c.1081G>A c.(1081-1083)GCC>ACC p.A361T KIF26B_uc010pyq.1_Missense_Mutation_p.A361T NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 361 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CAAGCCTTCCGCCTGCAGTGT 0.572 NaN 0 0 0 0.007413 0 15 56 KIF26B 55083 broad.mit.edu 37 1 245865906 245865906 + Nonstop_Mutation SNP T T C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:245865906T>C uc001ibf.1 + 15 6765 c.6325T>C c.(6325-6327)TAG>CAG p.*2109Q NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 2109 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CAGGCGCCGGTAGATGAGCCA 0.597 NaN 0 0 0 0.037714 0 19 55 OR2W3 343171 broad.mit.edu 37 1 248059565 248059565 + Nonsense_Mutation SNP T T G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr1:248059565T>G uc001idp.1 + 3 946 c.677T>G c.(676-678)TTA>TGA p.L226* OR2W3_uc010pzb.1_Nonsense_Mutation_p.L226* NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGGGCTGTGTTACAAATTCGG 0.532 NaN 0 0 0 0.011902 0 35 108 ADARB2 105 broad.mit.edu 37 10 1405318 1405318 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:1405318G>A uc009xhq.2 - 3 1356 c.982C>T c.(982-984)CGG>TGG p.R328W NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 328 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCCTGACCCCGGGCCAGCTTC 0.726 NaN 0 0 0 0.00308 0 5 9 SVIL 6840 broad.mit.edu 37 10 29840096 29840096 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:29840096G>A uc001iut.1 - 6 1010 c.257C>T c.(256-258)TCA>TTA p.S86L SVIL_uc001iuu.1_Missense_Mutation_p.S86L|SVIL_uc009xld.1_Missense_Mutation_p.S86L NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 86 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) ACCATAGGGTGAGTCACCGTG 0.493 NaN 0 0 0 0.007413 0 16 95 SVIL 6840 broad.mit.edu 37 10 29840154 29840154 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:29840154G>T uc001iut.1 - 6 952 c.199C>A c.(199-201)CTA>ATA p.L67I SVIL_uc001iuu.1_Missense_Mutation_p.L67I|SVIL_uc009xld.1_Missense_Mutation_p.L67I NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 67 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TGCTTTTCTAGAGAAGAATCA 0.463 NaN 1 0 4.7546e-09 0.028581 5.20878e-09 12 47 LRRTM3 347731 broad.mit.edu 37 10 68687354 68687354 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:68687354G>C uc001jmz.1 + 2 1230 c.680G>C c.(679-681)AGG>ACG p.R227T CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R227T NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 227 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CTTTTTCCAAGGTTGGTCAGC 0.453 NaN 0 0 0 0.024334 0 20 107 TSPAN15 23555 broad.mit.edu 37 10 71265936 71265936 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:71265936C>G uc001jpo.1 + 7 800 c.675C>G c.(673-675)ATC>ATG p.I225M NM_012339 NP_036471 O95858 TSN15_HUMAN transmembrane 4 superfamily member 15 225 Extracellular (Potential). integral to plasma membrane|membrane fraction 0 CCGTGATCATCTGGTTCATGG 0.597 NaN 0 0 0 0.01441 0 102 76 COL13A1 1305 broad.mit.edu 37 10 71562459 71562459 + Nonsense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:71562459C>T uc001jpr.1 + 1 816 c.280C>T c.(280-282)CAA>TAA p.Q94* COL13A1_uc001jqj.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jps.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpt.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpu.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpv.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpx.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpw.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpy.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpz.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqa.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqc.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqb.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jql.2_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqd.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqe.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqf.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqg.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqh.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqi.1_Nonsense_Mutation_p.Q94* NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 94 Extracellular (Potential).|Nonhelical region 1 (NC1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) ACGAGTCAATCAACTGCTGGA 0.662 NaN 0 0 0 0.015359 0 32 404 KCNMA1 3778 broad.mit.edu 37 10 78729810 78729810 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:78729810G>A uc001jxn.2 - 20 2459 c.2282C>T c.(2281-2283)CCG>CTG p.P761L KCNMA1_uc001jxj.2_Missense_Mutation_p.P707L|KCNMA1_uc001jxk.1_Missense_Mutation_p.P379L|KCNMA1_uc009xrt.1_Missense_Mutation_p.P552L|KCNMA1_uc001jxl.1_Missense_Mutation_p.P386L|KCNMA1_uc001jxo.2_Missense_Mutation_p.P703L|KCNMA1_uc001jxm.2_Missense_Mutation_p.P703L|KCNMA1_uc001jxq.2_Missense_Mutation_p.P706L NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 761 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TAGTGTTGACGGCTGCTCATC 0.483 NaN 0 0 0 0.014758 0 4 67 BTAF1 9044 broad.mit.edu 37 10 93749199 93749199 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:93749199C>A uc001khr.2 + 20 2814 c.2716C>A c.(2716-2718)CAG>AAG p.Q906K BTAF1_uc001khs.1_Missense_Mutation_p.Q576K|BTAF1_uc001kht.1_Missense_Mutation_p.Q344K NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 906 HEAT 6. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TAAACTCCTTCAGCAGTGCAC 0.378 NaN 1 0 1.58986e-06 0.008291 1.67186e-06 9 41 C10orf76 79591 broad.mit.edu 37 10 103783474 103783474 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:103783474G>A uc009xwy.1 - 7 642 c.540C>T c.(538-540)CTC>CTT p.L180L NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 180 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TTACATACTCGAGAATAGTGT 0.383 NaN 0 0 0 0.012213 0 26 149 SORCS3 22986 broad.mit.edu 37 10 106737176 106737176 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:106737176C>T uc001kyi.1 + 4 1106 c.879C>T c.(877-879)CTC>CTT p.L293L NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 293 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGTATCGGCTCACCTTCTATA 0.443 NaN 0 0 0 0.007413 0 17 42 NRIP3 56675 broad.mit.edu 37 11 9009806 9009807 + Missense_Mutation DNP CC CC AA TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:9009806_9009807CC>AA uc001mhg.2 - 2 311_312 c.197_198GG>TT c.(196-198)AGG>ATT p.R66I NRIP3_uc010rbu.1_Missense_Mutation_p.R66I NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 66 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) CCATGAGGCGCCTCTGCAGAAT 0.51 NaN 0 0 0 0.004672 0 17 56 GTF2H1 2965 broad.mit.edu 37 11 18362845 18362845 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:18362845G>C uc001moi.2 + 7 1339 c.645G>C c.(643-645)ATG>ATC p.M215I GTF2H1_uc001moh.2_Missense_Mutation_p.M215I|GTF2H1_uc009yhm.2_Missense_Mutation_p.M99I NM_001142307 NP_001135779 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 215 BSD 2. mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|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|viral reproduction holo TFIIH complex protein binding 0 CCCACAACATGACAGAGAAGG 0.358 NaN NER 0 0 0 0.01892 0 22 59 NAV2 89797 broad.mit.edu 37 11 20089894 20089894 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:20089894G>A uc010rdm.1 + 24 5462 c.5101G>A c.(5101-5103)GAT>AAT p.D1701N NAV2_uc001mpp.2_Missense_Mutation_p.D1581N|NAV2_uc001mpr.3_Missense_Mutation_p.D1645N|NAV2_uc001mpt.2_Missense_Mutation_p.D694N|NAV2_uc009yhx.2_Missense_Mutation_p.D709N|NAV2_uc009yhy.1_Missense_Mutation_p.D607N|NAV2_uc009yhz.2_Missense_Mutation_p.D290N|NAV2_uc001mpu.2_Missense_Mutation_p.D83N NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1701 Potential. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GCGGGAACTGGATGCCTCCCA 0.502 NaN 0 0 0 0.01441 0 63 127 EXT2 2132 broad.mit.edu 37 11 44097105 44097105 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:44097105C>G uc010rfo.1 + 1 30 c.17C>G c.(16-18)TCT>TGT p.S6C ACCS_uc010rfm.1_Silent_p.L100L|ACCS_uc009yks.1_Silent_p.L173L|ACCS_uc010rfn.1_Missense_Mutation_p.L150V|ACCS_uc001mxx.2_Silent_p.L173L NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 GTGCCTCGCTCTTCTCTGCTC 0.602 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 0 0 0 0.024245 0 12 74 CKAP5 9793 broad.mit.edu 37 11 46783565 46783565 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:46783565G>A uc001ndi.1 - 32 4316 c.4206C>T c.(4204-4206)TTC>TTT p.F1402F CKAP5_uc009ylg.1_Silent_p.F1288F|CKAP5_uc001ndj.1_Silent_p.F1402F|CKAP5_uc001ndh.1_Silent_p.F331F NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1402 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 CAATCAGTTTGAACACCTGAT 0.443 NaN 0 0 0 0.034045 0 26 100 OR4C13 283092 broad.mit.edu 37 11 49974700 49974700 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:49974700C>G uc010rhz.1 + 1 726 c.726C>G c.(724-726)ATC>ATG p.I242M NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TCTCCCACATCACAGTTGTCA 0.463 NaN 0 0 0 0.01892 0 21 122 MARK2 2011 broad.mit.edu 37 11 63668461 63668461 + Nonsense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:63668461G>T uc001nxw.2 + 11 1600 c.1021G>T c.(1021-1023)GAG>TAG p.E341* MARK2_uc001nxx.2_Nonsense_Mutation_p.E341*|MARK2_uc001nxy.2_Nonsense_Mutation_p.E341*|MARK2_uc001nxv.3_Nonsense_Mutation_p.E341*|MARK2_uc001nxz.3_Nonsense_Mutation_p.E308*|MARK2_uc009yoy.2_Nonsense_Mutation_p.E308* NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 341 UBA. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 TACACGGGAAGAGATCCAGGA 0.577 NaN 1 0 1.08611e-07 0.010729 1.16892e-07 10 96 SUV420H1 51111 broad.mit.edu 37 11 67957497 67957497 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:67957497C>G uc001onm.1 - 2 303 c.47G>C c.(46-48)AGA>ACA p.R16T SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.R16T|SUV420H1_uc001onp.2_Missense_Mutation_p.R16T|SUV420H1_uc010rqa.1_Missense_Mutation_p.R16T|SUV420H1_uc001onq.2_Missense_Mutation_p.R16T NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GCCTCCATTTCTCCTGCCATT 0.478 NaN 0 0 0 0.01441 0 58 292 ARAP1 116985 broad.mit.edu 37 11 72418281 72418281 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:72418281C>T uc001osu.2 - 12 1851 c.1662G>A c.(1660-1662)GGG>GGA p.G554G ARAP1_uc001osv.2_Silent_p.G554G|ARAP1_uc001osr.2_Silent_p.G314G|ARAP1_uc001oss.2_Silent_p.G309G|ARAP1_uc009yth.2_Silent_p.G309G|ARAP1_uc010rre.1_Silent_p.G309G NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 554 C4-type.|Arf-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 GCTGAGGAGCCCCGCAGTCAG 0.647 NaN 0 0 0 0.00308 0 7 10 THRSP 7069 broad.mit.edu 37 11 77775045 77775045 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:77775045G>A uc001oyx.2 + 1 139 c.118G>A c.(118-120)GTG>ATG p.V40M NM_003251 NP_003242 Q92748 THRSP_HUMAN thyroid hormone-responsive protein 40 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(1) 1 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) TCTGCGGGACGTGCAGCTGAG 0.617 NaN 0 0 0 0.014323 0 21 110 PRCP 5547 broad.mit.edu 37 11 82560964 82560964 + Nonsense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:82560964G>C uc001ozs.2 - 5 856 c.743C>G c.(742-744)TCA>TGA p.S248* PRCP_uc001ozr.2_Nonsense_Mutation_p.S269* NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 248 SKS domain. blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 ACCAGTATTTGAGAGTCGATT 0.338 NaN 0 0 0 0.016723 0 9 99 CCDC81 60494 broad.mit.edu 37 11 86133623 86133623 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:86133623G>A uc001pbx.1 + 15 2253 c.1825G>A c.(1825-1827)GAC>AAC p.D609N CCDC81_uc001pbw.1_Missense_Mutation_p.D519N|CCDC81_uc010rtq.1_Missense_Mutation_p.D392N|CCDC81_uc001pby.1_Missense_Mutation_p.D344N NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 isoform 1 609 skin(1) 1 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) CAGGGCTTCAGACAAGCTGTT 0.562 NaN 0 0 0 0.013726 0 28 76 FAT3 120114 broad.mit.edu 37 11 92616453 92616453 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:92616453G>A uc001pdj.3 + 23 12848 c.12831G>A c.(12829-12831)CGG>CGA p.R4277R FAT3_uc001pdi.3_Silent_p.R717R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4277 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGACAGCCCGGCGGGGCGTGG 0.662 NaN TCGA Ovarian(4;0.039) 0 0 0 0.012213 0 28 96 KIAA1377 57562 broad.mit.edu 37 11 101857622 101857622 + Nonsense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:101857622G>T uc001pgm.2 + 9 3364 c.3094G>T c.(3094-3096)GAG>TAG p.E1032* KIAA1377_uc001pgn.2_Nonsense_Mutation_p.E988*|KIAA1377_uc010run.1_Nonsense_Mutation_p.E833* NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 1032 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) ATCAGTGCCGGAGGATGAGAT 0.363 NaN 1 0 8.73484e-25 0.01441 9.95555e-25 54 144 ALG9 79796 broad.mit.edu 37 11 111680410 111680410 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:111680410C>G uc001pmb.2 - 15 1768 c.1669G>C c.(1669-1671)GAA>CAA p.E557Q ALG9_uc001ply.2_Missense_Mutation_p.E386Q|ALG9_uc001plz.2_Missense_Mutation_p.E393Q|ALG9_uc010rwm.1_Missense_Mutation_p.E564Q|ALG9_uc010rwn.1_Missense_Mutation_p.E511Q|ALG9_uc010rwo.1_Missense_Mutation_p.E385Q NM_001077690 NP_001071158 Q9H6U8 ALG9_HUMAN asparagine-linked glycosylation 9 protein 557 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity large_intestine(1)|ovary(1) 2 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) CTGATCCATTCTTCTTTATTG 0.388 NaN 0 0 0 0.028581 0 14 70 DSCAML1 57453 broad.mit.edu 37 11 117391942 117391942 + Silent SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:117391942G>T uc001prh.1 - 6 1298 c.1296C>A c.(1294-1296)CTC>CTA p.L432L DSCAML1_uc001pri.1_Silent_p.L236L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 372 Extracellular (Potential).|Ig-like C2-type 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCGAGGTGATGAGCAGCGTCT 0.637 NaN 1 0 2.27781e-18 0.01441 2.58011e-18 44 117 ETS1 2113 broad.mit.edu 37 11 128354930 128354930 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:128354930G>A uc010sbs.1 - 5 834 c.518C>T c.(517-519)TCG>TTG p.S173L ETS1_uc001qej.2_Missense_Mutation_p.S217L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S173L NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 173 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TGAGAACTCCGATGGTGGAAC 0.483 NaN 0 0 0 0.023175 0 29 179 ARHGAP32 9743 broad.mit.edu 37 11 128842725 128842725 + Nonsense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:128842725G>A uc009zcp.2 - 21 3634 c.3634C>T c.(3634-3636)CAG>TAG p.Q1212* ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Nonsense_Mutation_p.Q171*|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.Q863* NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1212 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GAAGGAGGCTGATCTCCACTG 0.453 NaN 0 0 0 0.0333 0 16 37 IGSF9B 22997 broad.mit.edu 37 11 133814125 133814125 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:133814125G>A uc001qgx.3 - 3 630 c.399C>T c.(397-399)CTC>CTT p.L133L IGSF9B_uc001qgz.2_RNA NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 133 Extracellular (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CGTTGATGGTGAGGTGGACCC 0.602 NaN 0 0 0 0.006214 0 7 25 GLB1L3 112937 broad.mit.edu 37 11 134162074 134162074 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:134162074G>A uc009zdf.2 + 8 1138 c.778G>A c.(778-780)GAG>AAG p.E260K GLB1L3_uc010scs.1_Missense_Mutation_p.E260K|GLB1L3_uc010sct.1_Missense_Mutation_p.E112K|GLB1L3_uc010scu.1_5'UTR NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 260 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CTCTGATGGTGAGAAACATGT 0.473 NaN 0 0 0 0.008871 0 15 26 CACNA1C 775 broad.mit.edu 37 12 2676892 2676892 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:2676892G>C uc009zdu.1 + 13 2140 c.1827G>C c.(1825-1827)AAG>AAC p.K609N CACNA1C_uc009zdv.1_Missense_Mutation_p.K606N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkc.2_Missense_Mutation_p.K609N|CACNA1C_uc001qke.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K609N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K609N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K609N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K609N|CACNA1C_uc001qko.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K609N|CACNA1C_uc001qku.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K609N|CACNA1C_uc001qks.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K609N|CACNA1C_uc001qka.1_Missense_Mutation_p.K144N|CACNA1C_uc001qki.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkj.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkk.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkm.1_Missense_Mutation_p.K345N NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 609 II.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGGAGACCAAGATCATGTCCC 0.587 NaN 0 0 0 0.009096 0 4 39 GNB3 2784 broad.mit.edu 37 12 6952355 6952355 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:6952355C>T uc001qrd.2 + 6 626 c.221C>T c.(220-222)TCG>TTG p.S74L GNB3_uc001qrc.2_Missense_Mutation_p.S30L|GNB3_uc009zfe.2_Missense_Mutation_p.S74L NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 74 WD 1. cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 GTAAGTGCCTCGCAAGATGGG 0.612 NaN 0 0 0 0.023175 0 33 219 SLC2A3 6515 broad.mit.edu 37 12 8078455 8078455 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:8078455G>C uc001qtr.2 - 7 1213 c.951C>G c.(949-951)ATC>ATG p.I317M NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 317 Helical; Name=8; (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) CTACAGTGAAGATAGTATTAA 0.433 NaN 0 0 0 0.008871 0 16 163 ABCC9 10060 broad.mit.edu 37 12 22068679 22068679 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:22068679C>A uc001rfi.1 - 5 759 c.739G>T c.(739-741)GCA>TCA p.A247S ABCC9_uc001rfh.2_Missense_Mutation_p.A247S|ABCC9_uc001rfj.1_Missense_Mutation_p.A247S NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 247 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTCCAATTGCCTTCAGATCA 0.363 NaN 1 0 9.24413e-38 0.01441 1.07361e-37 92 72 FGD4 121512 broad.mit.edu 37 12 32729320 32729320 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:32729320C>G uc001rkz.2 + 3 506 c.29C>G c.(28-30)TCT>TGT p.S10C FGD4_uc001rlc.2_Missense_Mutation_p.S95C|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.S122C|FGD4_uc001rkx.3_Missense_Mutation_p.S10C NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 10 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GCCTCTGCTTCTTGTGTCTCA 0.443 NaN 0 0 0 0.014323 0 18 68 ADAMTS20 80070 broad.mit.edu 37 12 43750291 43750291 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:43750291G>A uc010skx.1 - 38 5639 c.5639C>T c.(5638-5640)TCA>TTA p.S1880L NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1880 GON. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACTTACCTCTGATCTTCGTAT 0.408 NaN 0 0 0 0.021553 0 5 9 ADAMTS20 80070 broad.mit.edu 37 12 43822323 43822323 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:43822323G>A uc010skx.1 - 26 3666 c.3666C>T c.(3664-3666)TCC>TCT p.S1222S ADAMTS20_uc001rno.1_Silent_p.S340S|ADAMTS20_uc001rnp.1_Silent_p.S376S NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1222 TSP type-1 8. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CATGGCCACAGGAAGCTGAAC 0.308 NaN 0 0 0 0.00308 0 7 15 SENP1 29843 broad.mit.edu 37 12 48482596 48482596 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:48482596C>T uc001rqx.2 - 5 814 c.368G>A c.(367-369)CGA>CAA p.R123Q SENP1_uc001rqw.2_Missense_Mutation_p.R123Q|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.R123Q NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 123 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TGAGGTCTTTCGGGTTTCGAG 0.403 NaN 0 0 0 0.02938 0 5 6 METTL7A 25840 broad.mit.edu 37 12 51319031 51319031 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:51319031G>A uc001rxb.2 + 1 498 c.210G>A c.(208-210)GGG>GGA p.G70G METTL7A_uc010smv.1_Silent_p.G70G NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 70 endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 GCCCCTCCGGGAAACTCTCCC 0.562 NaN 0 0 0 0.014758 0 4 24 METTL7A 25840 broad.mit.edu 37 12 51319142 51319142 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:51319142G>A uc001rxb.2 + 1 609 c.321G>A c.(319-321)TTG>TTA p.L107L METTL7A_uc010smv.1_Intron NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 107 endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 AGAAGTTTTTGATCAAGAGCA 0.557 NaN 0 0 0 0.013537 0 11 44 ZNF740 283337 broad.mit.edu 37 12 53579200 53579200 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:53579200G>A uc001scb.3 + 4 583 c.189G>A c.(187-189)CGG>CGA p.R63R NM_001004304 NP_001004304 Q8NDX6 ZN740_HUMAN zinc finger protein 740 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|protein binding|zinc ion binding 0 ATAAGTCCCGGAGCCGCAAAG 0.453 NaN 0 0 0 0.013537 0 10 22 ERBB3 2065 broad.mit.edu 37 12 56482341 56482341 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:56482341G>T uc001sjh.2 + 8 1082 c.889G>T c.(889-891)GAT>TAT p.D297Y ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 297 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTTTGTGGTGGATCAAACATC 0.512 NaN 1 0 4.0181e-32 0.01441 4.65187e-32 41 169 CS 1431 broad.mit.edu 37 12 56667506 56667506 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:56667506C>T uc001sks.1 - 10 1285 c.1095G>A c.(1093-1095)CTG>CTA p.L365L CS_uc010sql.1_Silent_p.L352L|CS_uc001skr.1_Silent_p.L299L|CS_uc001skt.1_Silent_p.L320L|CS_uc010sqm.1_3'UTR NM_004077 NP_004068 O75390 CISY_HUMAN citrate synthase precursor 365 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity 0 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) GCAGGTGTTTCAGAGCAAACT 0.468 NaN 0 0 0 0.009535 0 25 86 GLIPR1 11010 broad.mit.edu 37 12 75875733 75875733 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:75875733G>C uc001sxs.2 + 2 442 c.294G>C c.(292-294)GAG>GAC p.E98D GLIPR1_uc009zsb.1_Missense_Mutation_p.E98D NM_006851 NP_006842 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 precursor 98 cellular lipid metabolic process extracellular region|integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 CACTGGGAGAGAACATCTGGA 0.483 NaN 0 0 0 0.01892 0 19 78 NAV3 89795 broad.mit.edu 37 12 78513485 78513485 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:78513485C>G uc001syp.2 + 15 3682 c.3509C>G c.(3508-3510)TCT>TGT p.S1170C NAV3_uc001syo.2_Missense_Mutation_p.S1170C|NAV3_uc010sub.1_Missense_Mutation_p.S670C|NAV3_uc009zsf.2_Missense_Mutation_p.S178C NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1170 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGCAGCAAGTCTGCTGGGGCC 0.537 NaN HNSCC(70;0.22) 0 0 0 0.004482 0 8 41 ACSS3 79611 broad.mit.edu 37 12 81503360 81503360 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:81503360C>T uc001szl.1 + 2 424 c.333C>T c.(331-333)AAC>AAT p.N111N ACSS3_uc001szm.1_Silent_p.N110N NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 111 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GAATGCTTAACATTTGTTACA 0.313 NaN 0 0 0 0.006214 0 7 61 TMTC3 160418 broad.mit.edu 37 12 88584258 88584258 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:88584258G>A uc001tau.2 + 12 1785 c.1565G>A c.(1564-1566)AGA>AAA p.R522K NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 522 integral to membrane binding skin(1) 1 TATGCAGCCAGAATTGCCCCT 0.373 NaN 0 0 0 0.028581 0 11 68 MTERFD3 80298 broad.mit.edu 37 12 107372423 107372423 + Missense_Mutation SNP G G C rs139694986 byFrequency TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:107372423G>C uc001tme.1 - 2 1889 c.70C>G c.(70-72)CCA>GCA p.P24A MTERFD3_uc001tmf.1_Missense_Mutation_p.P24A|MTERFD3_uc001tmg.1_Missense_Mutation_p.P24A|MTERFD3_uc001tmh.1_Missense_Mutation_p.P24A NM_025198 NP_079474 Q49AM1 MTER3_HUMAN transcription termination factor-like protein 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding 0 CTGTATTTTGGAGGTGATCGC 0.433 NaN 0 0 0 0.021553 0 6 47 ACACB 32 broad.mit.edu 37 12 109702924 109702924 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:109702924G>C uc001tob.2 + 51 7071 c.6952G>C c.(6952-6954)GAG>CAG p.E2318Q ACACB_uc001toc.2_Missense_Mutation_p.E2318Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E984Q NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2318 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GGACATCCTGGAGTGGAAGAC 0.647 NaN 0 0 0 0.01441 0 51 131 GCN1L1 10985 broad.mit.edu 37 12 120576588 120576588 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:120576588C>T uc001txo.2 - 46 6080 c.6067G>A c.(6067-6069)GAG>AAG p.E2023K NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2023 HEAT 17. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTGCCGCCTCTCTGACCTCC 0.547 NaN 0 0 0 0.01441 0 63 151 RILPL1 353116 broad.mit.edu 37 12 123970241 123970241 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:123970241C>T uc001ufe.2 - 5 1149 c.913G>A c.(913-915)GAG>AAG p.E305K RILPL1_uc001ufd.2_Missense_Mutation_p.E154K|RILPL1_uc010tas.1_Missense_Mutation_p.E305K NM_178314 NP_847884 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 305 RILP-like. neuroprotection cytosol 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) TCGTTCCTCTCGTGCAGCACG 0.622 NaN 0 0 0 0.004482 0 6 47 TMEM132B 114795 broad.mit.edu 37 12 125834138 125834138 + Missense_Mutation SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:125834138A>G uc001uhe.1 + 2 201 c.193A>G c.(193-195)AGT>GGT p.S65G NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 65 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AAGGAACTCCAGTCTGCAGGC 0.522 NaN 0 0 0 0.037714 0 22 137 POLE 5426 broad.mit.edu 37 12 133252767 133252767 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:133252767C>G uc001uks.1 - 10 977 c.933G>C c.(931-933)GAG>GAC p.E311D POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E284D NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 311 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CTGAAACAATCTCCCTGTTGG 0.478 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.004482 0 7 68 CHFR 55743 broad.mit.edu 37 12 133433181 133433181 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:133433181C>G uc001ulf.2 - 10 1222 c.1138G>C c.(1138-1140)GAT>CAT p.D380H CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.D368H|CHFR_uc010tbs.1_Missense_Mutation_p.D380H|CHFR_uc001uld.2_Missense_Mutation_p.D339H|CHFR_uc010tbt.1_Missense_Mutation_p.D288H NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 380 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TTTCTGGCATCCATACTTTGC 0.493 NaN 0 0 0 0.01441 0 61 199 IFT88 8100 broad.mit.edu 37 13 21212522 21212522 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr13:21212522G>C uc001unh.2 + 19 1861 c.1465G>C c.(1465-1467)GAT>CAT p.D489H IFT88_uc001uni.2_Missense_Mutation_p.D480H|IFT88_uc001unj.2_Missense_Mutation_p.D479H|IFT88_uc010tcq.1_Missense_Mutation_p.D460H|IFT88_uc001unk.2_Missense_Mutation_p.D235H NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 489 TPR 6. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TGTGAACTCTGATAGATATAA 0.338 NaN 0 0 0 0.020292 0 10 108 FRY 10129 broad.mit.edu 37 13 32841395 32841395 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr13:32841395G>A uc001utx.2 + 55 8531 c.8035G>A c.(8035-8037)GAT>AAT p.D2679N FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.D234N|FRY_uc001utz.2_Missense_Mutation_p.D204N|FRY_uc010tdx.1_Missense_Mutation_p.D49N NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2679 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGCCTGTGACGATGCCGAGGA 0.547 NaN 0 0 0 0.01892 0 25 118 MED4 29079 broad.mit.edu 37 13 48660459 48660459 + Nonsense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr13:48660459G>A uc001vby.1 - 3 348 c.322C>T c.(322-324)CAG>TAG p.Q108* MED4_uc010tge.1_Nonsense_Mutation_p.Q108*|MED4_uc010tgf.1_Nonsense_Mutation_p.Q62* NM_014166 NP_054885 Q9NPJ6 MED4_HUMAN mediator complex subunit 4 108 Potential. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;5.18e-07) TGTAGCTGCTGAATATCACTG 0.338 NaN 0 0 0 0.012319 0 18 99 RB1 5925 broad.mit.edu 37 13 49027133 49027133 + Missense_Mutation SNP C C T rs137853292 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr13:49027133C>T uc001vcb.2 + 18 1866 c.1700C>T c.(1699-1701)TCA>TTA p.S567L NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 567 Domain A.|Pocket; binds T and E1A. S -> L (in RB). 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.?(6)|p.S567*(1) 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) ATATAGGATTCACCTTTATTT 0.333 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 0.0333 0 16 34 RB1 5925 broad.mit.edu 37 13 49027219 49027219 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr13:49027219C>G uc001vcb.2 + 18 1952 c.1786C>G c.(1786-1788)CTC>GTC p.L596V NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 596 Pocket; binds T and E1A.|Spacer. 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.?(6) 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) TAATCTTCCTCTCCAGAATAA 0.338 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 0.010818 0 27 50 OLFM4 10562 broad.mit.edu 37 13 53602986 53602986 + Silent SNP C C T rs149259735 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr13:53602986C>T uc001vhl.2 + 1 15 c.15C>T c.(13-15)CTC>CTT p.L5L OLFM4_uc001vhk.1_Silent_p.L5L NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 5 cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GGCCCGGCCTCTCATTTCTCC 0.592 NaN 0 0 0 0.01441 0 56 121 MYCBP2 23077 broad.mit.edu 37 13 77786175 77786175 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr13:77786175G>T uc001vkf.2 - 23 3155 c.3064C>A c.(3064-3066)CAA>AAA p.Q1022K MYCBP2_uc010aev.2_Missense_Mutation_p.Q426K NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1022 RCC1 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AAAAAAGTTTGGTCCCCACTT 0.358 NaN 1 0 0.000602214 0.014758 0.000617354 5 57 ADCY4 196883 broad.mit.edu 37 14 24801042 24801042 + Silent SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr14:24801042G>T uc001wov.2 - 4 627 c.621C>A c.(619-621)CTC>CTA p.L207L ADCY4_uc001wow.2_Silent_p.L207L|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.L207L|ADCY4_uc001woy.2_Silent_p.L207L NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 207 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GCAGGGAGCTGAGTGCCTCCC 0.567 NaN 1 0 5.9392e-07 0.021553 6.31793e-07 4 30 NFKBIA 4792 broad.mit.edu 37 14 35873730 35873730 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr14:35873730C>T uc001wtf.3 - 1 231 c.121G>A c.(121-123)GAG>AAG p.E41K NFKBIA_uc001wte.3_5'Flank|NFKBIA_uc001wtg.3_Missense_Mutation_p.E41K|NFKBIA_uc010amo.2_RNA NM_020529 NP_065390 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene 41 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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 cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(2) 2 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) TGCTCGTACTCCTCGTCTTTC 0.687 NaN 0 0 0 0.021553 0 6 16 TXNDC16 57544 broad.mit.edu 37 14 52922155 52922155 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr14:52922155G>A uc001wzs.2 - 18 2178 c.1729C>T c.(1729-1731)CCA>TCA p.P577S TXNDC16_uc010tqu.1_Missense_Mutation_p.P572S|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 577 cell redox homeostasis extracellular region 0 Breast(41;0.0716) AGCAGGGCTGGAAGACTTGCA 0.418 NaN 0 0 0 0.01441 0 57 54 DLGAP5 9787 broad.mit.edu 37 14 55618599 55618599 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr14:55618599G>C uc001xbs.2 - 17 2399 c.2182C>G c.(2182-2184)CTT>GTT p.L728V DLGAP5_uc001xbt.2_Missense_Mutation_p.L728V NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 728 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 CCAGCAAGAAGAGGCAAACTC 0.328 NaN 0 0 0 0.011902 0 43 43 DAAM1 23002 broad.mit.edu 37 14 59835468 59835468 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr14:59835468G>T uc001xdz.1 + 26 3253 c.3128G>T c.(3127-3129)GGA>GTA p.G1043V DAAM1_uc001xea.1_Missense_Mutation_p.G1033V|DAAM1_uc001xec.1_RNA NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 1043 DAD. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) TTACGCTCAGGAGAAGTGTTT 0.403 NaN 1 0 2.54651e-27 0.027894 2.92968e-27 38 27 MTMR10 54893 broad.mit.edu 37 15 31233969 31233969 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr15:31233969G>A uc001zfh.1 - 16 2136 c.2038C>T c.(2038-2040)CAC>TAC p.H680Y MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.H94Y|MTMR10_uc001zfg.1_Missense_Mutation_p.H261Y|MTMR10_uc010azx.1_Missense_Mutation_p.H432Y|MTMR10_uc001zfi.1_3'UTR NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 680 phosphatase activity ovary(1) 1 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) GAGAGCTTGTGAAAGGCTGTG 0.602 NaN 0 0 0 0.028581 0 14 19 STRC 161497 broad.mit.edu 37 15 43910137 43910137 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr15:43910137C>T uc001zsf.2 - 2 560 c.482G>A c.(481-483)TGC>TAC p.C161Y STRC_uc010bdl.2_5'UTR|STRC_uc010udz.1_RNA|STRC_uc001zsg.1_Missense_Mutation_p.C87Y NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 161 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ATCACGGGTGCATGGGGGCCG 0.637 NaN 0 0 0 0.007413 0 13 122 SEMA6D 80031 broad.mit.edu 37 15 48052505 48052505 + Silent SNP A A T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr15:48052505A>T uc010bek.2 + 3 474 c.114A>T c.(112-114)TCA>TCT p.S38S SEMA6D_uc001zvw.2_Silent_p.S38S|SEMA6D_uc001zvx.1_Silent_p.S38S|SEMA6D_uc001zvy.2_Silent_p.S38S|SEMA6D_uc001zvz.2_Silent_p.S38S|SEMA6D_uc001zwa.2_Silent_p.S38S|SEMA6D_uc001zwb.2_Silent_p.S38S|SEMA6D_uc001zwc.2_Silent_p.S38S NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 38 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TTGCAGATTCAAGGCAATATC 0.413 NaN 0 0 0 0.010729 0 11 54 ITGA11 22801 broad.mit.edu 37 15 68649637 68649637 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr15:68649637C>A uc002ari.2 - 7 688 c.601G>T c.(601-603)GTT>TTT p.V201F ITGA11_uc010bib.2_Missense_Mutation_p.V201F NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 201 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) ACAACTCCAACCTGCAAGGGA 0.498 NaN 1 0 2.27525e-19 0.021523 2.5852e-19 17 76 PTPN9 5780 broad.mit.edu 37 15 75819584 75819584 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr15:75819584C>T uc002bal.2 - 2 590 c.82G>A c.(82-84)GAA>AAA p.E28K NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 28 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 TTAATCTCTTCGAGAAACTGC 0.398 NaN 0 0 0 0.02938 0 6 63 SGK269 79834 broad.mit.edu 37 15 77472021 77472021 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr15:77472021C>T uc002bcm.2 - 3 2556 c.2248G>A c.(2248-2250)GAG>AAG p.E750K SGK269_uc002bcn.2_Missense_Mutation_p.E750K NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 750 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) ATCTGAGACTCCTGAGTGCCT 0.527 NaN 0 0 0 0.006214 0 8 77 TM6SF1 53346 broad.mit.edu 37 15 83776476 83776476 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr15:83776476C>T uc002bjp.2 + 1 153 c.44C>T c.(43-45)TCG>TTG p.S15L TM6SF1_uc010bmq.2_Missense_Mutation_p.S15L|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15L|TM6SF1_uc010bmr.2_RNA NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 15 Helical; (Potential). integral to membrane ovary(1) 1 CTGTCCCTCTCGGCCATCCCG 0.567 NaN 0 0 0 0.004672 0 3 15 ITFG3 83986 broad.mit.edu 37 16 304468 304468 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:304468G>C uc002cgf.2 + 3 251 c.56G>C c.(55-57)AGA>ACA p.R19T ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.R19T|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.R19T NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 19 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) AATGAAGAAAGAAAATCGCAG 0.502 NaN OREG0003695 type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.01441 0 43 138 ITFG3 83986 broad.mit.edu 37 16 304632 304632 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:304632G>A uc002cgf.2 + 3 415 c.220G>A c.(220-222)GAC>AAC p.D74N ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.D74N|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.D74N NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 74 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) CCCGTGTCCAGACCGGCCGGC 0.607 NaN 0 0 0 0.01441 0 59 287 GRIN2A 2903 broad.mit.edu 37 16 9862756 9862756 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:9862756G>T uc002czo.3 - 12 3095 c.2547C>A c.(2545-2547)TTC>TTA p.F849L GRIN2A_uc010uym.1_Missense_Mutation_p.F849L|GRIN2A_uc010uyn.1_Missense_Mutation_p.F692L|GRIN2A_uc002czr.3_Missense_Mutation_p.F849L NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 849 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACACGCCCGTGAAACAGAAGC 0.572 NaN 1 0 7.41877e-09 0.012319 8.0792e-09 20 57 UQCRC2 7385 broad.mit.edu 37 16 21985248 21985248 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:21985248C>G uc002djx.2 + 11 1134 c.998C>G c.(997-999)TCT>TGT p.S333C UQCRC2_uc002djy.2_Missense_Mutation_p.S333C|UQCRC2_uc010bxa.2_Intron|UQCRC2_uc002djz.1_Missense_Mutation_p.S200C NM_003366 NP_003357 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 333 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding large_intestine(2) 2 GBM - Glioblastoma multiforme(48;0.0264) TACTCAGATTCTGGACTCTTT 0.388 NaN 0 0 0 0.024245 0 14 57 GTF3C1 2975 broad.mit.edu 37 16 27518439 27518439 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:27518439C>G uc002dov.1 - 9 1321 c.1281G>C c.(1279-1281)AAG>AAC p.K427N GTF3C1_uc002dou.2_Missense_Mutation_p.K427N NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 427 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 AGGAAATGTACTTGGTGGTTC 0.552 NaN 0 0 0 0.016522 0 18 80 SNX20 124460 broad.mit.edu 37 16 50709713 50709713 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:50709713G>C uc002egk.2 - 3 423 c.250C>G c.(250-252)CGC>GGC p.R84G SNX20_uc010vgp.1_Missense_Mutation_p.R84G|SNX20_uc002egi.3_Missense_Mutation_p.R84G NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 84 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 TCCTCGATGCGAGCTGAAGCG 0.418 NaN 0 0 0 0.012319 0 17 115 CHD9 80205 broad.mit.edu 37 16 53288443 53288443 + Nonsense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:53288443C>T uc002ehb.2 + 17 4119 c.3955C>T c.(3955-3957)CGA>TGA p.R1319* CHD9_uc002egy.2_Nonsense_Mutation_p.R1319*|CHD9_uc002ehc.2_Nonsense_Mutation_p.R1319*|CHD9_uc002ehf.2_Nonsense_Mutation_p.R433*|CHD9_uc002ehd.2_Nonsense_Mutation_p.R845* NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1319 Helicase C-terminal. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) GATGTTTGACCGAGCCAGTTT 0.413 NaN 0 0 0 0.012213 0 31 176 SETD6 79918 broad.mit.edu 37 16 58552747 58552747 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:58552747G>C uc002ens.2 + 8 1295 c.1236G>C c.(1234-1236)TGG>TGC p.W412C SETD6_uc002enr.2_Missense_Mutation_p.W388C|SETD6_uc010cdm.2_RNA NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN SET domain containing 6 isoform a 412 negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity ovary(1) 1 AAGCATCGTGGAGACAGCTGC 0.453 NaN 0 0 0 0.016522 0 19 64 EDC4 23644 broad.mit.edu 37 16 67912685 67912685 + Silent SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:67912685C>G uc002eur.2 + 11 1396 c.1230C>G c.(1228-1230)CTC>CTG p.L410L EDC4_uc010cer.2_Silent_p.L29L|EDC4_uc010vkg.1_Silent_p.L342L|EDC4_uc010ces.1_Silent_p.L253L|EDC4_uc002eus.2_Silent_p.L140L NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 410 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CCCCTAGCCTCAAGGTTTGCT 0.517 NaN 0 0 0 0.01441 0 38 252 EDC4 23644 broad.mit.edu 37 16 67912931 67912931 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:67912931C>A uc002eur.2 + 12 1525 c.1359C>A c.(1357-1359)TTC>TTA p.F453L EDC4_uc010cer.2_Missense_Mutation_p.F72L|EDC4_uc010vkg.1_Missense_Mutation_p.F385L|EDC4_uc010ces.1_Missense_Mutation_p.F296L|EDC4_uc002eus.2_Missense_Mutation_p.F183L NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 453 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TCTCGGAGTTCCTGCTCACCC 0.592 NaN 1 0 1.3612e-06 0.024245 1.43966e-06 14 53 HYDIN 54768 broad.mit.edu 37 16 71004428 71004428 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:71004428C>T uc002ezr.2 - 36 5739 c.5611G>A c.(5611-5613)GAA>AAA p.E1871K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1872 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CTCACCTTTTCTTCTATGAGA 0.418 NaN 0 0 0 0.007413 0 13 40 ANKRD11 29123 broad.mit.edu 37 16 89351727 89351727 + Nonsense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr16:89351727G>C uc002fmx.1 - 9 1684 c.1223C>G c.(1222-1224)TCA>TGA p.S408* ANKRD11_uc002fmy.1_Nonsense_Mutation_p.S408*|ANKRD11_uc002fnc.1_Nonsense_Mutation_p.S408*|ANKRD11_uc002fnb.1_Nonsense_Mutation_p.S365* NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 408 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CGACGTGTCTGACAGGATACG 0.468 NaN 0 0 0 0.00308 0 7 62 MYO1C 4641 broad.mit.edu 37 17 1386204 1386204 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:1386204C>T uc002fsp.2 - 4 717 c.497G>A c.(496-498)CGC>CAC p.R166H MYO1C_uc002fsn.2_Missense_Mutation_p.R147H|MYO1C_uc002fso.2_Missense_Mutation_p.R131H|MYO1C_uc010vqj.1_Missense_Mutation_p.R131H|MYO1C_uc010vqk.1_Missense_Mutation_p.R142H NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 166 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGCACCTCCGCGCTCGGGGGC 0.617 NaN 0 0 0 0.024245 0 14 29 ATP2A3 489 broad.mit.edu 37 17 3831578 3831578 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:3831578C>G uc002fxb.1 - 21 3175 c.3024G>C c.(3022-3024)TGG>TGC p.W1008C ATP2A3_uc010ckn.1_Intron|ATP2A3_uc002fwx.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fwy.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fwz.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fxa.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fxc.1_Intron|ATP2A3_uc002fxd.1_Intron NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 1008 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GCTGCCTACTCCAGGCCTGCG 0.612 NaN 0 0 0 0.006122 0 14 57 CYB5D2 124936 broad.mit.edu 37 17 4060176 4060176 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:4060176G>A uc002fxm.3 + 4 1183 c.595G>A c.(595-597)GAC>AAC p.D199N CYB5D2_uc010cko.2_Missense_Mutation_p.D87N|CYB5D2_uc002fxl.3_Missense_Mutation_p.D87N NM_144611 NP_653212 Q8WUJ1 NEUFC_HUMAN cytochrome b5 domain containing 2 199 nervous system development extracellular region heme binding large_intestine(2)|ovary(1) 3 TGTGAGCAGAGACTGGATTGG 0.572 NaN OREG0024097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.028581 0 13 42 CAMTA2 23125 broad.mit.edu 37 17 4873702 4873702 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:4873702C>G uc002gah.1 - 17 3046 c.2938G>C c.(2938-2940)GAG>CAG p.E980Q SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.E1003Q|CAMTA2_uc002gag.1_Missense_Mutation_p.E979Q|CAMTA2_uc002gai.1_Missense_Mutation_p.E982Q|CAMTA2_uc010ckv.1_Missense_Mutation_p.E627Q NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 980 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GACATGGTCTCACTGAGCCCC 0.607 NaN 0 0 0 0.010504 0 20 132 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C A rs121912656 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:7577547C>A uc002gim.2 - 7 928 c.734G>T c.(733-735)GGC>GTC p.G245V TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; 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.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582 111 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) 1 0 1.66031e-10 0.021523 1.83534e-10 21 62 DNAH2 146754 broad.mit.edu 37 17 7643863 7643863 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:7643863G>A uc002giu.1 + 9 1516 c.1502G>A c.(1501-1503)CGC>CAC p.R501H DNAH2_uc002git.2_Missense_Mutation_p.R583H|DNAH2_uc010vuk.1_Missense_Mutation_p.R501H NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 501 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTTGCCTCCCGCGAGGTGCGG 0.672 NaN 0 0 0 0.007413 0 14 107 DNAH2 146754 broad.mit.edu 37 17 7673955 7673955 + Silent SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:7673955C>G uc002giu.1 + 25 4193 c.4179C>G c.(4177-4179)CTC>CTG p.L1393L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1393 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ATCATCGGCTCAGGTCAGGGG 0.542 NaN 0 0 0 0.006122 0 17 104 WDR16 146845 broad.mit.edu 37 17 9489122 9489122 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:9489122G>A uc002gly.2 + 2 172 c.103G>A c.(103-105)GAC>AAC p.D35N WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Missense_Mutation_p.D45N NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 35 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 ATGCCATCCTGACCAGGAGCA 0.433 NaN 0 0 0 0.013726 0 31 140 NCOR1 9611 broad.mit.edu 37 17 16040727 16040727 + Splice_Site SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:16040727C>G uc002gpo.2 - 14 1648 c.1408_splice c.e14-1 p.S470_splice NCOR1_uc002gpn.2_Splice_Site_p.S470_splice|NCOR1_uc002gpp.1_Splice_Site_p.S361_splice|NCOR1_uc002gpr.2_Splice_Site_p.S361_splice|NCOR1_uc002gps.1_Splice_Site_p.S479_splice|NCOR1_uc010coz.1_Splice_Site_p.S286_splice|NCOR1_uc010cpb.1_Splice_Site_p.S479_splice|NCOR1_uc010cpa.1_Splice_Site_p.S470_splice NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAGGAACACTCTGTAAGAAAT 0.294 NaN 0 0 0 0.009096 0 4 18 ZNF287 57336 broad.mit.edu 37 17 16470799 16470799 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:16470799G>A uc002gqi.2 - 2 700 c.247C>T c.(247-249)CAC>TAC p.H83Y NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 76 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TCCTTTGAGTGAATCTCAGGT 0.493 NaN 0 0 0 0.024245 0 14 115 SUPT6H 6830 broad.mit.edu 37 17 27028139 27028139 + Nonsense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:27028139C>T uc002hby.2 + 36 5077 c.4987C>T c.(4987-4989)CAG>TAG p.Q1663* SUPT6H_uc010crt.2_Nonsense_Mutation_p.Q1663* NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1663 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) ACGGCAGCAGCAGCCAAAGTA 0.627 NaN 0 0 0 0.004482 0 7 76 KRTAP4-8 728224 broad.mit.edu 37 17 39253806 39253806 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:39253806G>A uc010wfo.1 - 1 570 c.531C>T c.(529-531)CCC>CCT p.P177P NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 177 keratin filament 0 CGCAGCACACGGGGCGGGGGC 0.542 NaN 0 0 0 0.00308 0 5 4 KCNH4 23415 broad.mit.edu 37 17 40315336 40315336 + Nonsense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:40315336C>A uc002hzb.2 - 14 2827 c.2494G>T c.(2494-2496)GAG>TAG p.E832* NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 832 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCAGAGTCCTCAATGCCATCC 0.632 NaN 1 0 3.59834e-05 0.021553 3.77311e-05 6 25 KCNH4 23415 broad.mit.edu 37 17 40315715 40315715 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:40315715G>A uc002hzb.2 - 13 2719 c.2386C>T c.(2386-2388)CAC>TAC p.H796Y NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 796 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGGGGGCCGTGAGGGGAGGCA 0.672 NaN 0 0 0 0.006214 0 6 20 KCNH4 23415 broad.mit.edu 37 17 40323897 40323897 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:40323897G>A uc002hzb.2 - 7 1437 c.1104C>T c.(1102-1104)GTC>GTT p.V368V NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 368 Helical; Name=Segment S5; (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGAGCGCAAAGACCGACATGA 0.507 NaN 0 0 0 0.00308 0 6 62 ABCC3 8714 broad.mit.edu 37 17 48753883 48753883 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:48753883C>G uc002isl.2 + 23 3392 c.3312C>G c.(3310-3312)ATC>ATG p.I1104M ABCC3_uc002isn.2_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1104 ABC transmembrane type-1 2.|Helical; Name=14; (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TTGTGGTCATCATGGCCAGCA 0.567 NaN 0 0 0 0.009535 0 26 122 TEX14 56155 broad.mit.edu 37 17 56665024 56665024 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:56665024C>G uc010dcz.1 - 17 2842 c.2724G>C c.(2722-2724)ATG>ATC p.M908I TEX14_uc002iwr.1_Missense_Mutation_p.M902I|TEX14_uc002iws.1_Missense_Mutation_p.M902I|TEX14_uc010dda.1_Missense_Mutation_p.M682I NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 908 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTTCCACACTCATCCTGAATT 0.438 NaN OREG0024616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009535 0 22 39 PRR11 55771 broad.mit.edu 37 17 57275120 57275120 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:57275120G>A uc002ixf.1 + 9 1063 c.984G>A c.(982-984)GTG>GTA p.V328V PRR11_uc002ixg.1_RNA NM_018304 NP_060774 Q96HE9 PRR11_HUMAN proline rich 11 328 ovary(2) 2 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGACTCCAGTGATGACGCAGG 0.358 NaN 0 0 0 0.016522 0 21 130 ACOX1 51 broad.mit.edu 37 17 73974647 73974647 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:73974647G>A uc002jqf.2 - 2 527 c.237C>T c.(235-237)ATC>ATT p.I79I ACOX1_uc010wsq.1_Silent_p.I41I|ACOX1_uc002jqe.2_Silent_p.I79I|ACOX1_uc010wsr.1_5'UTR|C17orf106_uc010dgs.1_5'Flank|CDK3_uc002jqg.3_5'Flank NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 79 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 CAGGGTCAGCGATGCCAAACT 0.473 NaN 0 0 0 0.009535 0 26 132 NOTUM 147111 broad.mit.edu 37 17 79911122 79911122 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:79911122C>T uc010wvg.1 - 11 1478 c.1206G>A c.(1204-1206)GTG>GTA p.V402V NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 402 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ACGTCCCCTTCACCTGGACAT 0.617 NaN 0 0 0 0.009096 0 4 17 KIAA1632 57724 broad.mit.edu 37 18 43510647 43510647 + Missense_Mutation SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr18:43510647A>G uc002lbm.2 - 12 2507 c.2407T>C c.(2407-2409)TAT>CAT p.Y803H KIAA1632_uc002lbo.1_Missense_Mutation_p.Y803H NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 803 autophagy 0 CTAACCTCATATATCTCCAGA 0.358 NaN 0 0 0 0.034045 0 23 29 MAPK4 5596 broad.mit.edu 37 18 48241459 48241459 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr18:48241459C>T uc002lev.2 + 3 1557 c.557C>T c.(556-558)TCA>TTA p.S186L MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Missense_Mutation_p.S186L NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 186 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) GGTTATCTGTCAGAAGGGTTG 0.512 NaN 0 0 0 0.024334 0 21 117 SERPINB11 89778 broad.mit.edu 37 18 61377511 61377511 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr18:61377511C>G uc002ljk.3 + 2 146 c.84C>G c.(82-84)ATC>ATG p.I28M SERPINB11_uc010xes.1_Translation_Start_Site|SERPINB11_uc010dqd.2_Translation_Start_Site|SERPINB11_uc002ljj.3_Translation_Start_Site|SERPINB11_uc010dqe.2_Translation_Start_Site|SERPINB11_uc010dqf.2_Missense_Mutation_p.I28M NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 28 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) GAGATAACATCTTCTTTTCTT 0.448 NaN 0 0 0 0.016522 0 21 27 CDH19 28513 broad.mit.edu 37 18 64212042 64212043 + Missense_Mutation DNP CC CC TT TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr18:64212042_64212043CC>TT uc002lkc.1 - 6 1011_1012 c.873_874GG>AA c.(871-876)ATGGAT>ATAAAT p.291_292MD>IN CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.291_292MD>IN|CDH19_uc002lkd.2_Missense_Mutation_p.291_292MD>IN NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 291_292 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) ATGCTGTAATCCATTTCTGCAT 0.351 NaN 0 0 0 0.004672 0 33 30 CYB5A 1528 broad.mit.edu 37 18 71920849 71920849 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr18:71920849C>G uc002lli.2 - 5 486 c.375G>C c.(373-375)TTG>TTC p.L125F CYB5A_uc002llh.2_3'UTR NM_148923 NP_683725 P00167 CYB5_HUMAN cytochrome b-5 isoform 1 125 Helical; (Potential). electron transport chain|water-soluble vitamin metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding 0 Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211) Methoxyflurane(DB01028) GGCGATACATCAAGGCGACGG 0.512 NaN 0 0 0 0.004672 0 3 55 MIER2 54531 broad.mit.edu 37 19 325674 325674 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:325674C>T uc002lok.1 - 7 625 c.616G>A c.(616-618)GAC>AAC p.D206N NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 206 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) TTGCTGAGGTCAGCTTGGAAC 0.607 NaN 0 0 0 0.012319 0 15 73 SAFB2 9667 broad.mit.edu 37 19 5613501 5613501 + Nonsense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:5613501G>T uc002mcd.2 - 5 793 c.581C>A c.(580-582)TCA>TAA p.S194* SAFB2_uc010xio.1_Nonsense_Mutation_p.S194*|SAFB2_uc010xip.1_RNA NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) GTTCAACGATGAAGTTTCCAA 0.423 NaN 1 0 7.41877e-09 0.012319 8.0792e-09 17 59 LRRC8E 80131 broad.mit.edu 37 19 7965381 7965381 + Silent SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:7965381C>G uc002mir.2 + 3 2075 c.1974C>G c.(1972-1974)CTC>CTG p.L658L NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 658 LRR 7. integral to membrane lung(1)|pancreas(1) 2 TGGAGCAGCTCTACCTCAGCT 0.632 NaN 0 0 0 0.02938 0 7 24 MUC16 94025 broad.mit.edu 37 19 9086461 9086461 + Nonsense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:9086461G>T uc002mkp.2 - 1 5558 c.5354C>A c.(5353-5355)TCA>TAA p.S1785* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1785 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTCCTTGCTGAAGACTTGGA 0.468 NaN 1 0 3.57192e-18 0.006122 4.03353e-18 15 55 MUC16 94025 broad.mit.edu 37 19 9088659 9088659 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:9088659C>T uc002mkp.2 - 1 3360 c.3156G>A c.(3154-3156)TTG>TTA p.L1052L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1052 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGCTTGTGTCCAATCTTCCTT 0.478 NaN 0 0 0 0.008871 0 19 65 TNPO2 30000 broad.mit.edu 37 19 12829859 12829859 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:12829859G>A uc002muo.2 - 4 494 c.309C>T c.(307-309)CTC>CTT p.L103L TNPO2_uc002mup.2_Silent_p.L195L|TNPO2_uc002muq.2_Silent_p.L103L|TNPO2_uc002mur.2_Silent_p.L103L NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 103 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 TGGCTCGGATGAGCGAGGAGG 0.463 NaN 0 0 0 0.021022 0 31 131 RFX1 5989 broad.mit.edu 37 19 14079426 14079426 + Silent SNP C C T rs150138140 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:14079426C>T uc002mxv.2 - 12 1955 c.1683G>A c.(1681-1683)ACG>ACA p.T561T NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 561 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CCGACAGCCCCGTGCTCGGCT 0.662 NaN 0 0 0 0.034045 0 21 64 CYP4F12 66002 broad.mit.edu 37 19 15794528 15794528 + Silent SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:15794528C>G uc002nbl.2 + 7 934 c.873C>G c.(871-873)GCC>GCG p.A291A NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) AAGACAAAGCCAAGTCCAAGA 0.488 NaN 0 0 0 0.021523 0 21 85 RAB3A 5864 broad.mit.edu 37 19 18311177 18311177 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:18311177C>A uc002nie.2 - 3 476 c.307G>T c.(307-309)GAC>TAC p.D103Y NM_002866 NP_002857 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 103 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity 0 TTGGTGATGTCATACATGAGG 0.443 NaN 1 0 3.5997e-14 0.014323 4.01547e-14 18 96 ZNF100 163227 broad.mit.edu 37 19 21909652 21909652 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:21909652C>G uc002nqi.2 - 5 1661 c.1462G>C c.(1462-1464)GAG>CAG p.E488Q ZNF100_uc002nqh.2_Missense_Mutation_p.E424Q NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 488 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCACATTCCTCACATTTGTAG 0.398 NaN 0 0 0 0.028581 0 11 85 WTIP 126374 broad.mit.edu 37 19 34983976 34983976 + Silent SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:34983976G>C uc002nvm.2 + 3 804 c.804G>C c.(802-804)GTG>GTC p.V268V NM_001080436 NP_001073905 Wilms tumor 1 interacting protein 0 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TCTACAACGTGGGTGAGAAAG 0.627 NaN 0 0 0 0.027356 0 23 134 ZNF382 84911 broad.mit.edu 37 19 37117266 37117266 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:37117266C>A uc002oek.2 + 5 580 c.467C>A c.(466-468)CCC>CAC p.P156H ZNF382_uc010efa.2_Missense_Mutation_p.P107H|ZNF382_uc010efb.2_Missense_Mutation_p.P155H|ZNF382_uc002oel.2_Missense_Mutation_p.P155H NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 156 Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AATATAAGCCCCATAAAAGAG 0.343 NaN 1 0 3.62473e-10 0.012319 3.99482e-10 15 140 SIPA1L3 23094 broad.mit.edu 37 19 38673330 38673330 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:38673330G>C uc002ohk.2 + 16 4889 c.4380G>C c.(4378-4380)AAG>AAC p.K1460N NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1460 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CAGGGTGGAAGAGAACGGAGG 0.642 NaN 0 0 0 0.010504 0 17 61 PSG1 5669 broad.mit.edu 37 19 43382064 43382064 + Splice_Site SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:43382064C>T uc002ovb.2 - 2 568 c.430_splice c.e2+1 p.L144_splice PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Splice_Site_p.L144_splice|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Splice_Site|PSG1_uc002our.1_Splice_Site_p.L144_splice|PSG1_uc010eio.1_Splice_Site_p.L144_splice|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Splice_Site_p.L144_splice|PSG1_uc002ouz.1_Splice_Site_p.L144_splice|PSG1_uc002ova.1_Splice_Site_p.P144_splice|PSG1_uc002ovc.2_Splice_Site_p.P144_splice|PSG1_uc002ovd.1_Splice_Site_p.L144_splice NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) GAATCACTTACGGTGTAAGGT 0.517 NaN 0 0 0 0.01441 0 127 204 PSG2 5670 broad.mit.edu 37 19 43575870 43575870 + Silent SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:43575870A>G uc002ovr.2 - 4 1039 c.946T>C c.(946-948)TTG>CTG p.L316L PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.L316L|PSG2_uc010eiq.1_Silent_p.L316L|PSG2_uc002ovs.3_Silent_p.L316L|PSG2_uc002ovt.3_Silent_p.L316L NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 316 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) TTGACTGTCAACGATGTGGAG 0.458 NaN 0 0 0 0.036044 0 37 243 XRCC1 7515 broad.mit.edu 37 19 44050093 44050093 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:44050093C>T uc002owt.2 - 14 1618 c.1498G>A c.(1498-1500)GAA>AAA p.E500K XRCC1_uc010xwp.1_Missense_Mutation_p.E469K NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 500 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) AGTCTGTGTTCCTTCTGCTCT 0.627 NaN Other_BER_factors 0 0 0 0.014758 0 4 35 XRCC1 7515 broad.mit.edu 37 19 44050097 44050097 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:44050097C>T uc002owt.2 - 14 1614 c.1494G>A c.(1492-1494)CAG>CAA p.Q498Q XRCC1_uc010xwp.1_Silent_p.Q467Q NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 498 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) TGTGTTCCTTCTGCTCTGCCA 0.632 NaN Other_BER_factors 0 0 0 0.021553 0 5 34 XRCC1 7515 broad.mit.edu 37 19 44051059 44051059 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:44051059C>T uc002owt.2 - 11 1390 c.1270G>A c.(1270-1272)GAA>AAA p.E424K XRCC1_uc010xwp.1_Missense_Mutation_p.E393K NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 424 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) TTGGGGGCTTCATCTCCGCTG 0.607 NaN Other_BER_factors 0 0 0 0.021523 0 22 97 MYPOP 339344 broad.mit.edu 37 19 46393972 46393972 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:46393972G>A uc002pdt.2 - 3 1196 c.1109C>T c.(1108-1110)CCA>CTA p.P370L NM_001012643 NP_001012661 Q86VE0 MYPOP_HUMAN Myb protein P42POP 370 Pro-rich. nucleus DNA binding 0 GAGCGGGGCTGGGGGGGGCCG 0.662 NaN 0 0 0 0.004672 0 3 9 TRPM4 54795 broad.mit.edu 37 19 49674990 49674990 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:49674990C>G uc002pmw.2 + 8 1086 c.1014C>G c.(1012-1014)TTC>TTG p.F338L TRPM4_uc010emu.2_Missense_Mutation_p.F338L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.F164L|TRPM4_uc010emv.2_Missense_Mutation_p.F223L|TRPM4_uc010yal.1_Missense_Mutation_p.F55L NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 338 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCAGGCGTTTCTTTCCCAAAG 0.463 NaN 0 0 0 0.007413 0 17 24 ETFB 2109 broad.mit.edu 37 19 51856530 51856530 + Silent SNP G G A rs147509776 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:51856530G>A uc002pwh.2 - 3 323 c.231C>T c.(229-231)ACC>ACT p.T77T ETFB_uc002pwg.2_Silent_p.T168T NM_001985 NP_001976 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 77 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) TGGCCAGGGCGGTACGAATCG 0.512 NaN 0 0 0 0.016723 0 10 93 NKG7 4818 broad.mit.edu 37 19 51875508 51875508 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:51875508C>T uc002pwj.2 - 2 382 c.211G>A c.(211-213)GTG>ATG p.V71M NKG7_uc002pwk.2_Intron NM_005601 NP_005592 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 71 Helical; (Potential). integral to plasma membrane central_nervous_system(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CTCACGGACACCAGGGCCCAC 0.617 NaN 0 0 0 0.01441 0 47 117 ZNF845 91664 broad.mit.edu 37 19 53854452 53854452 + Nonsense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:53854452C>G uc010ydv.1 + 4 641 c.524C>G c.(523-525)TCA>TGA p.S175* ZNF845_uc010ydw.1_Nonsense_Mutation_p.S175* NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCGTTGGTTTCAACATCCCAA 0.388 NaN 0 0 0 0.0333 0 17 55 ZIK1 284307 broad.mit.edu 37 19 58101751 58101751 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr19:58101751G>A uc002qpg.2 + 4 669 c.572G>A c.(571-573)GGC>GAC p.G191D ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.G136D|ZIK1_uc002qpi.2_Missense_Mutation_p.G178D|ZIK1_uc002qpj.2_Missense_Mutation_p.G88D NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTCCTGGAGGCAAGAAACCC 0.498 NaN 0 0 0 0.011902 0 39 57 PDIA6 10130 broad.mit.edu 37 2 10952816 10952816 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:10952816G>A uc002rau.2 - 1 145 c.7C>T c.(7-9)CTC>TTC p.L3F PDIA6_uc010yjg.1_5'UTR|PDIA6_uc002rav.2_Intron|PDIA6_uc010yjh.1_Intron|PDIA6_uc002raw.2_Intron NM_005742 NP_005733 Q15084 PDIA6_HUMAN protein disulfide isomerase A6 precursor 3 cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) AGCACCAGGAGAGCCATGCCG 0.687 NaN 0 0 0 0.014758 0 3 11 OTOF 9381 broad.mit.edu 37 2 26706500 26706500 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:26706500C>T uc002rhk.2 - 13 1349 c.1222G>A c.(1222-1224)GAG>AAG p.E408K NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 408 Cytoplasmic (Potential).|C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCACCCCCTCGGGGAGCAGC 0.602 NaN 0 0 0 0.004482 0 7 23 VIT 5212 broad.mit.edu 37 2 36982074 36982074 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:36982074G>C uc002rpl.2 + 5 507 c.286G>C c.(286-288)GAT>CAT p.D96H VIT_uc002rpk.2_Missense_Mutation_p.D89H|VIT_uc010ynf.1_Missense_Mutation_p.D89H|VIT_uc002rpm.2_Missense_Mutation_p.D89H|VIT_uc010ezv.2_Missense_Mutation_p.D89H|VIT_uc010ezw.2_Missense_Mutation_p.D89H NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 96 LCCL. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) TGGTGTGCTTGATAATTCAGG 0.393 NaN 0 0 0 0.036044 0 34 40 CALM2 805 broad.mit.edu 37 2 47389450 47389450 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:47389450C>G uc002rvt.2 - 4 418 c.260G>C c.(259-261)AGA>ACA p.R87T C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Intron NM_001743 NP_001734 P62158 CALM_HUMAN calmodulin 2 87 EF-hand 3. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding p.0?(2) 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) GAATGCTTCTCTAATTTCTTC 0.368 NaN 0 0 0 0.004482 0 6 43 FAM176A 84141 broad.mit.edu 37 2 75720637 75720637 + Missense_Mutation SNP C C G rs150035696 byFrequency TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:75720637C>G uc002sni.2 - 4 662 c.184G>C c.(184-186)GAC>CAC p.D62H FAM176A_uc002snj.1_Missense_Mutation_p.D49H|FAM176A_uc002snk.1_Missense_Mutation_p.D62H NM_001135032 NP_001128504 Q9H8M9 F176A_HUMAN family with sequence similarity 176, member A 62 apoptosis|autophagy endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane 0 CGCCTGCAGTCTGTGTGGCAA 0.587 NaN 0 0 0 0.010729 0 12 54 SEMA4C 54910 broad.mit.edu 37 2 97531659 97531659 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:97531659C>A uc002sxh.3 - 4 426 c.266G>T c.(265-267)TGG>TTG p.W89L SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Missense_Mutation_p.W142L NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 89 Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 GGGGGCCTCCCAGGAGATCTG 0.597 NaN 1 0 7.93312e-07 0.020292 8.41461e-07 11 113 TMEM87B 84910 broad.mit.edu 37 2 112838657 112838657 + Missense_Mutation SNP C C T rs151250123 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:112838657C>T uc002thm.2 + 7 985 c.616C>T c.(616-618)CAT>TAT p.H206Y TMEM87B_uc010fkg.2_Missense_Mutation_p.H189Y|TMEM87B_uc010fkh.2_3'UTR NM_032824 NP_116213 Q96K49 TM87B_HUMAN transmembrane protein 87B precursor 206 integral to membrane 0 GATTGGGCCTCATGGATATAT 0.333 NaN 0 0 0 0.036044 0 25 46 TMEM87B 84910 broad.mit.edu 37 2 112838676 112838676 + Nonsense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:112838676C>G uc002thm.2 + 7 1004 c.635C>G c.(634-636)TCA>TGA p.S212* TMEM87B_uc010fkg.2_Nonsense_Mutation_p.S195*|TMEM87B_uc010fkh.2_3'UTR NM_032824 NP_116213 Q96K49 TM87B_HUMAN transmembrane protein 87B precursor 212 integral to membrane 0 ATCTCTGCATCAGATTGGCCC 0.328 NaN 0 0 0 0.011902 0 27 44 TMEM87B 84910 broad.mit.edu 37 2 112839041 112839041 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:112839041G>C uc002thm.2 + 8 1153 c.784G>C c.(784-786)GAA>CAA p.E262Q TMEM87B_uc010fkg.2_Missense_Mutation_p.E245Q|TMEM87B_uc010fkh.2_3'UTR NM_032824 NP_116213 Q96K49 TM87B_HUMAN transmembrane protein 87B precursor 262 Helical; (Potential). integral to membrane 0 GGGAATGCTTGAAAAAGCAGT 0.358 NaN 0 0 0 0.01441 0 44 77 SCTR 6344 broad.mit.edu 37 2 120231035 120231035 + Missense_Mutation SNP C C G rs142755533 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:120231035C>G uc002tma.2 - 4 625 c.399G>C c.(397-399)GAG>GAC p.E133D SCTR_uc002tlz.2_5'UTR NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 133 Extracellular (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) TTACCCGCTTCTCGTTGGAAG 0.592 NaN 0 0 0 0.016723 0 12 28 SMPD4 55627 broad.mit.edu 37 2 130911366 130911366 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:130911366G>C uc002tqq.1 - 17 2439 c.1919C>G c.(1918-1920)GCC>GGC p.A640G SMPD4_uc002tqo.1_Missense_Mutation_p.A172G|SMPD4_uc002tqp.1_Missense_Mutation_p.A379G|SMPD4_uc010yzy.1_Missense_Mutation_p.A389G|SMPD4_uc010yzz.1_Missense_Mutation_p.A304G|SMPD4_uc002tqr.1_Missense_Mutation_p.A611G|SMPD4_uc002tqs.1_Missense_Mutation_p.A508G|SMPD4_uc002tqt.1_Missense_Mutation_p.A489G|SMPD4_uc010zaa.1_Missense_Mutation_p.A498G|SMPD4_uc010zab.1_Missense_Mutation_p.A538G|SMPD4_uc010zac.1_Missense_Mutation_p.A381G|SMPD4_uc010zad.1_Missense_Mutation_p.A276G NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 601 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) CAGGTCGTTGGCTGTGTAGGA 0.592 NaN 0 0 0 0.01441 0 196 129 LCT 3938 broad.mit.edu 37 2 136566130 136566130 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:136566130C>T uc002tuu.1 - 8 3798 c.3787G>A c.(3787-3789)GAG>AAG p.E1263K NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1263 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TCACCATACTCTTCCTTGATC 0.537 NaN 0 0 0 0.01441 0 85 76 PKP4 8502 broad.mit.edu 37 2 159481626 159481626 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:159481626C>T uc002tzv.2 + 7 1100 c.840C>T c.(838-840)GCC>GCT p.A280A PKP4_uc002tzt.1_Silent_p.A132A|PKP4_uc002tzu.2_Silent_p.A280A|PKP4_uc002tzw.2_Silent_p.A280A|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.A278A|PKP4_uc002uaa.2_Silent_p.A132A NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 280 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 AGAGACCCGCCTCCCCAACAG 0.612 NaN HNSCC(62;0.18) 0 0 0 0.008291 0 10 48 HOXD3 3232 broad.mit.edu 37 2 177034235 177034235 + Silent SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:177034235C>A uc002ukt.1 + 2 569 c.393C>A c.(391-393)CCC>CCA p.P131P NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 131 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) catcttcacccACCAATCCTG 0.463 NaN 1 0 3.86212e-05 0.008291 4.0267e-05 10 61 PDE11A 50940 broad.mit.edu 37 2 178936390 178936390 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:178936390C>G uc002ulq.2 - 1 1093 c.775G>C c.(775-777)GAT>CAT p.D259H PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 259 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GCATGCACATCAAAGAATTTG 0.532 NaN Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 0 0 0 0.020292 0 14 32 TTN 7273 broad.mit.edu 37 2 179587610 179587610 + Missense_Mutation SNP G G A rs72648966 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:179587610G>A uc010zfg.1 - 73 18508 c.18284C>T c.(18283-18285)TCG>TTG p.S6095L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2756L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7022 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) TAAAGAAACCGAATCTCCAAC 0.438 NaN 0 0 0 0.02938 0 5 24 TTN 7273 broad.mit.edu 37 2 179605206 179605206 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:179605206G>C uc010zfh.1 - 46 12465 c.12241C>G c.(12241-12243)CTT>GTT p.L4081V TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L4014V|TTN_uc010zfj.1_Missense_Mutation_p.L3889V|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TGCTTTTGAAGAGTCACTCTT 0.463 NaN 0 0 0 0.004482 0 7 37 BARD1 580 broad.mit.edu 37 2 215609878 215609878 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:215609878G>C uc002veu.2 - 9 1951 c.1816C>G c.(1816-1818)CAT>GAT p.H606D BARD1_uc010zjm.1_Missense_Mutation_p.H462D NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 606 BRCT 1. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACAACAACATGAGTTACTAAA 0.338 NaN Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 0 0 0 0.020292 0 11 36 TNS1 7145 broad.mit.edu 37 2 218683208 218683208 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr2:218683208G>C uc002vgt.2 - 24 3933 c.3535C>G c.(3535-3537)CAG>GAG p.Q1179E TNS1_uc002vgr.2_Missense_Mutation_p.Q1166E|TNS1_uc002vgs.2_Missense_Mutation_p.Q1158E|TNS1_uc010zjv.1_Missense_Mutation_p.Q1158E NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1179 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGGCGCGCCTGAGGGCTCCCA 0.637 NaN 0 0 0 0.016723 0 11 79 PCSK2 5126 broad.mit.edu 37 20 17445975 17445975 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr20:17445975G>A uc002wpm.2 + 11 1527 c.1207G>A c.(1207-1209)GGT>AGT p.G403S PCSK2_uc002wpl.2_Missense_Mutation_p.G384S|PCSK2_uc010zrm.1_Missense_Mutation_p.G368S|PCSK2_uc002wpn.2_Missense_Mutation_p.G57S NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 403 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCCAGCCTGGGTCTGACCTG 0.562 NaN 0 0 0 0.016522 0 21 42 CST1 1469 broad.mit.edu 37 20 23731323 23731323 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr20:23731323C>G uc002wtp.2 - 1 252 c.181G>C c.(181-183)GAT>CAT p.D61H NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 61 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) TAGTAGTCATCTTTGGTGGCC 0.567 NaN 0 0 0 0.033182 0 35 65 PTPRT 11122 broad.mit.edu 37 20 40748574 40748574 + Splice_Site SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr20:40748574C>T uc002xkg.2 - 20 3068 c.2884_splice c.e20+1 p.G962_splice PTPRT_uc010ggj.2_Splice_Site_p.G981_splice|PTPRT_uc010ggi.2_Splice_Site_p.G165_splice NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGGCACTTACCTTGAGTCGC 0.512 NaN 0 0 0 0.01441 0 49 104 SERINC3 10955 broad.mit.edu 37 20 43129871 43129871 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr20:43129871C>T uc002xme.2 - 9 1260 c.1126G>A c.(1126-1128)GAT>AAT p.D376N SERINC3_uc002xmf.1_Missense_Mutation_p.D376N|SERINC3_uc010ggs.1_Missense_Mutation_p.D369N|SERINC3_uc010zwp.1_Missense_Mutation_p.D321N NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 376 Extracellular (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GTAGTTGTATCACCAAGGATG 0.507 NaN 0 0 0 0.017118 0 25 158 ACOT8 10005 broad.mit.edu 37 20 44477114 44477114 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr20:44477114C>G uc002xqa.1 - 3 544 c.463G>C c.(463-465)GAG>CAG p.E155Q ACOT8_uc010zxe.1_Missense_Mutation_p.E155Q|ACOT8_uc002xqc.1_Missense_Mutation_p.E102Q|ACOT8_uc010zxf.1_Intron NM_005469 NP_005460 O14734 ACOT8_HUMAN peroxisomal acyl-CoA thioesterase 1 isoform a 155 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding skin(1) 1 Myeloproliferative disorder(115;0.0122) ATGAGGGTCTCACAGTCAAGC 0.453 NaN 0 0 0 0.01441 0 48 312 RAE1 8480 broad.mit.edu 37 20 55948726 55948726 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr20:55948726G>C uc002xyg.2 + 10 1098 c.757G>C c.(757-759)GAT>CAT p.D253H RAE1_uc010gis.1_Missense_Mutation_p.D206H|RAE1_uc010git.1_Missense_Mutation_p.D253H|RAE1_uc002xyh.2_Missense_Mutation_p.D253H|RAE1_uc002xyi.2_Missense_Mutation_p.D253H NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 253 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) CAGCGCCAAAGATAACTTCAC 0.418 NaN 0 0 0 0.01441 0 65 151 DONSON 29980 broad.mit.edu 37 21 34951767 34951767 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr21:34951767C>T uc002ysk.2 - 9 1519 c.1452G>A c.(1450-1452)CTG>CTA p.L484L DONSON_uc002ysi.1_Silent_p.L244L|DONSON_uc002ysj.2_Silent_p.L117L|DONSON_uc002ysl.2_Silent_p.L117L|DONSON_uc010gme.2_Silent_p.L457L|DONSON_uc002ysm.2_Silent_p.L484L NM_017613 NP_060083 Q9NYP3 DONS_HUMAN downstream neighbor of SON 484 multicellular organismal development nucleus ovary(1)|central_nervous_system(1) 2 GCAGCATGGTCAGTGAATGCA 0.443 NaN 0 0 0 0.030593 0 23 134 PRDM15 63977 broad.mit.edu 37 21 43222983 43222983 + Silent SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr21:43222983C>G uc002yzq.1 - 30 4041 c.3930G>C c.(3928-3930)GCG>GCC p.A1310A PRDM15_uc002yzo.2_Silent_p.A981A|PRDM15_uc002yzp.2_Silent_p.A1001A|PRDM15_uc002yzr.1_Silent_p.A1001A NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 1310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCGGAGCACCCGCCTCCTCTT 0.577 NaN 0 0 0 0.01441 0 47 294 UMODL1 89766 broad.mit.edu 37 21 43504216 43504216 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr21:43504216C>T uc002zaf.1 + 3 342 c.342C>T c.(340-342)TTC>TTT p.F114F UMODL1_uc002zad.1_Silent_p.F42F|UMODL1_uc002zae.1_Silent_p.F42F|UMODL1_uc002zag.1_Silent_p.F114F|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 114 Extracellular (Potential).|WAP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CCGGGCAGTTCACGTCAAGAC 0.562 NaN 0 0 0 0.01441 0 75 200 PKNOX1 5316 broad.mit.edu 37 21 44427655 44427655 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr21:44427655G>C uc002zcq.1 + 3 294 c.106G>C c.(106-108)GAT>CAT p.D36H PKNOX1_uc002zcp.1_Missense_Mutation_p.D36H|PKNOX1_uc011aex.1_5'UTR|PKNOX1_uc002zcr.2_Missense_Mutation_p.D36H NM_004571 NP_004562 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 36 sequence-specific DNA binding large_intestine(2) 2 CTCTGAACCCGATGCAGAAGG 0.493 NaN 0 0 0 0.025465 0 35 190 ENTHD1 150350 broad.mit.edu 37 22 40139982 40139982 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr22:40139982G>C uc003ayg.2 - 7 1777 c.1526C>G c.(1525-1527)TCT>TGT p.S509C NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 509 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GTGACTACTAGAAATGTGACT 0.433 NaN 0 0 0 0.004482 0 9 35 ENTHD1 150350 broad.mit.edu 37 22 40140187 40140187 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr22:40140187G>A uc003ayg.2 - 7 1572 c.1321C>T c.(1321-1323)CTG>TTG p.L441L NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 441 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GGTCCGGCCAGAATTGGTGAT 0.458 NaN 0 0 0 0.013537 0 12 35 ENTHD1 150350 broad.mit.edu 37 22 40140202 40140202 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr22:40140202G>C uc003ayg.2 - 7 1557 c.1306C>G c.(1306-1308)CTC>GTC p.L436V NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 436 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GGTGATAAGAGATGAGCTGAC 0.438 NaN 0 0 0 0.006214 0 9 33 GRAMD4 23151 broad.mit.edu 37 22 47073091 47073091 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr22:47073091C>T uc003bhx.2 + 18 1719 c.1680C>T c.(1678-1680)ACC>ACT p.T560T GRAMD4_uc010had.2_Silent_p.T476T|GRAMD4_uc003bhy.2_Silent_p.T83T NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 560 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CCTTCGAGACCATTCTCAGCC 0.552 NaN 0 0 0 0.014323 0 17 95 HDAC10 83933 broad.mit.edu 37 22 50684743 50684743 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr22:50684743G>C uc003bkg.2 - 17 2007 c.1634C>G c.(1633-1635)TCC>TGC p.S545C TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.S271C|HDAC10_uc003bkf.2_Missense_Mutation_p.S271C|HDAC10_uc010hav.2_Missense_Mutation_p.S525C|HDAC10_uc003bkh.2_Missense_Mutation_p.S338C|HDAC10_uc003bki.2_Missense_Mutation_p.S495C|HDAC10_uc003bkj.2_RNA NM_032019 NP_114408 Q969S8 HDA10_HUMAN histone deacetylase 10 isoform 1 545 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGTGGCGTGGAGACATGGAA 0.582 NaN 0 0 0 0.010504 0 16 130 C3orf32 51066 broad.mit.edu 37 3 8667307 8667307 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:8667307G>T uc003bqu.2 - 10 974 c.728C>A c.(727-729)TCT>TAT p.S243Y C3orf32_uc003bqz.2_Missense_Mutation_p.S243Y|C3orf32_uc003bqt.2_Missense_Mutation_p.S192Y|C3orf32_uc011atg.1_Missense_Mutation_p.S265Y|C3orf32_uc003bqv.2_Missense_Mutation_p.S192Y|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.S243Y NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN hypothetical protein LOC51066 243 skin(1) 1 CCGGTGCTCAGACACAAACTC 0.398 NaN 1 0 1.99824e-07 0.0333 2.13805e-07 14 92 FANCD2 2177 broad.mit.edu 37 3 10094121 10094121 + Silent SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:10094121C>G uc003buw.2 + 18 1674 c.1596C>G c.(1594-1596)CTC>CTG p.L532L FANCD2_uc003bux.1_Silent_p.L532L|FANCD2_uc003buy.1_Silent_p.L532L|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 532 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) TACGAAAACTCTTCTATGTTC 0.388 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.0333 0 13 120 NGLY1 55768 broad.mit.edu 37 3 25775404 25775404 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:25775404C>T uc003cdl.2 - 8 1327 c.1219G>A c.(1219-1221)GAA>AAA p.E407K NGLY1_uc010hfg.2_Missense_Mutation_p.E389K|NGLY1_uc003cdm.2_Missense_Mutation_p.E407K|NGLY1_uc011awo.1_Missense_Mutation_p.E365K|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 407 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 AGTAATGCTTCTTTAACCTTA 0.343 NaN 0 0 0 0.016723 0 11 112 MLH1 4292 broad.mit.edu 37 3 37056000 37056000 + Nonsense_Mutation SNP C C G rs121912956 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:37056000C>G uc003cgl.2 + 9 815 c.755C>G c.(754-756)TCA>TGA p.S252* MLH1_uc011aye.1_Nonsense_Mutation_p.S11*|MLH1_uc011ayb.1_Nonsense_Mutation_p.S11*|MLH1_uc010hge.2_Nonsense_Mutation_p.S252*|MLH1_uc003cgn.3_Nonsense_Mutation_p.S11*|MLH1_uc011ayc.1_Nonsense_Mutation_p.S154*|MLH1_uc011ayd.1_Nonsense_Mutation_p.S11*|MLH1_uc003cgo.2_Nonsense_Mutation_p.S11*|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'UTR NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 252 Missing (in HNPCC2). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.S252*(2)|p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 GCAAACTACTCAGTGAAGAAG 0.378 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 0 0 0 0.00308 0 6 70 ANO10 55129 broad.mit.edu 37 3 43640099 43640099 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:43640099C>G uc003cmv.2 - 4 568 c.397G>C c.(397-399)GAA>CAA p.E133Q ANO10_uc011azs.1_Missense_Mutation_p.E133Q|ANO10_uc003cmw.2_Missense_Mutation_p.E67Q|ANO10_uc010hil.2_Missense_Mutation_p.E133Q|ANO10_uc011azt.1_Intron NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 133 Cytoplasmic (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 CTAAGATTTTCAAGTTCATGT 0.313 NaN 0 0 0 0.004672 0 3 42 DALRD3 55152 broad.mit.edu 37 3 49055271 49055271 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:49055271C>T uc003cvk.1 - 3 513 c.493G>A c.(493-495)GAT>AAT p.D165N DALRD3_uc003cvl.1_Missense_Mutation_p.D165N|DALRD3_uc003cvm.1_5'UTR|DALRD3_uc010hko.1_5'UTR|DALRD3_uc011bca.1_Missense_Mutation_p.D165N|NDUFAF3_uc003cvn.2_5'Flank NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 165 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATGTGCGGATCCCGCACAGCT 0.672 NaN 0 0 0 0.021553 0 5 20 GNAT1 2779 broad.mit.edu 37 3 50231304 50231304 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:50231304C>T uc003cym.2 + 5 684 c.568C>T c.(568-570)CTC>TTC p.L190F GNAT1_uc003cyl.2_Missense_Mutation_p.L190F NM_144499 NP_653082 P11488 GNAT1_HUMAN rod-type transducin alpha subunit 190 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CTTCAAGGATCTCAACTTCCG 0.657 NaN 0 0 0 0.025465 0 30 72 ALAS1 211 broad.mit.edu 37 3 52233298 52233298 + Missense_Mutation SNP T T G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:52233298T>G uc003dcy.1 + 3 378 c.41T>G c.(40-42)GTC>GGC p.V14G ALAS1_uc003dcx.1_Missense_Mutation_p.V14G|ALAS1_uc003dcz.1_Missense_Mutation_p.V14G|ALAS1_uc011bec.1_Missense_Mutation_p.V31G NM_000688 NP_000679 P13196 HEM1_HUMAN 5-aminolevulinate synthase 1 precursor 14 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(2)|upper_aerodigestive_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TTATCCCGAGTCCCCCAGGCC 0.527 NaN 0 0 0 0.008871 0 14 73 ADAMTS9 56999 broad.mit.edu 37 3 64617494 64617494 + Silent SNP T T C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:64617494T>C uc003dmg.2 - 15 2315 c.2283A>G c.(2281-2283)ACA>ACG p.T761T ADAMTS9_uc011bfo.1_Silent_p.T733T|ADAMTS9_uc003dmh.1_Silent_p.T590T|ADAMTS9_uc003dmk.1_Silent_p.T761T NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 761 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CATAATGTACTGTATTAAATG 0.358 NaN 0 0 0 0.010504 0 18 86 CBLB 868 broad.mit.edu 37 3 105377939 105377939 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:105377939C>G uc003dwc.2 - 19 3146 c.2824G>C c.(2824-2826)GAG>CAG p.E942Q CBLB_uc003dwa.2_Missense_Mutation_p.E157Q|CBLB_uc011bhi.1_Missense_Mutation_p.E920Q NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 942 UBA. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 GCATAACCCTCTCCCATGAGT 0.512 NaN Mis S AML 0 0 0 0.028581 0 13 122 C3orf1 51300 broad.mit.edu 37 3 119222468 119222468 + Splice_Site SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:119222468G>A uc003ecn.2 + 3 662 c.449_splice c.e3+1 p.N150_splice C3orf1_uc003eco.2_Splice_Site|C3orf1_uc003ecp.2_Splice_Site NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) CTATATTCAAGTAAGTTCACT 0.418 NaN 0 0 0 0.004482 0 7 11 PARP14 54625 broad.mit.edu 37 3 122437553 122437553 + Nonsense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:122437553C>T uc003efq.3 + 14 4614 c.4555C>T c.(4555-4557)CGA>TGA p.R1519* PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.R1236*|PARP14_uc003efs.1_Nonsense_Mutation_p.R1236* NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1519 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) CAAGAGAGTTCGATTGGCCAA 0.398 NaN 0 0 0 0.01441 0 49 263 RASA2 5922 broad.mit.edu 37 3 141326559 141326559 + Missense_Mutation SNP T T A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:141326559T>A uc003etz.1 + 20 1973 c.1973T>A c.(1972-1974)CTT>CAT p.L658H RASA2_uc010huq.1_Missense_Mutation_p.L662H|RASA2_uc003eua.1_Missense_Mutation_p.L659H NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 658 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 AAAAACATTCTTGCTGTGGAA 0.264 NaN 0 0 0 0.010729 0 8 46 SERPINI2 5276 broad.mit.edu 37 3 167183420 167183420 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:167183420G>C uc003fer.1 - 3 578 c.520C>G c.(520-522)CTG>GTG p.L174V SERPINI2_uc003fes.1_Missense_Mutation_p.L184V|SERPINI2_uc003fet.1_Missense_Mutation_p.L174V NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 174 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 AGCCGAGTCAGAGGGCCAAAT 0.383 NaN 0 0 0 0.007413 0 14 37 LRRC31 79782 broad.mit.edu 37 3 169572606 169572606 + Nonsense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:169572606G>T uc003fgc.1 - 6 1063 c.986C>A c.(985-987)TCA>TAA p.S329* LRRC31_uc010hwp.1_Nonsense_Mutation_p.S273* NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 329 LRR 4. ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CTTACTCAGTGACATCACGTC 0.398 NaN 1 0 4.15321e-07 0.009535 4.4309e-07 24 98 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G C rs104886003 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:178936091G>C uc003fjk.2 + 10 1790 c.1633G>C c.(1633-1635)GAG>CAG p.E545Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.010504 0 17 58 EPHB3 2049 broad.mit.edu 37 3 184298213 184298213 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:184298213C>T uc003foz.2 + 12 2633 c.2196C>T c.(2194-2196)GTC>GTT p.V732V NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 732 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) AGTTCACGGTCATCCAGCTGG 0.612 NaN 0 0 0 0.030593 0 23 176 FAM13A 10144 broad.mit.edu 37 4 89660243 89660243 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:89660243G>A uc003hse.1 - 20 2708 c.2500C>T c.(2500-2502)CTA>TTA p.L834L FAM13A_uc011cdp.1_5'Flank|FAM13A_uc003hsa.1_Silent_p.L305L|FAM13A_uc003hsb.1_Silent_p.L508L|FAM13A_uc003hsd.1_Silent_p.L508L|FAM13A_uc003hsc.1_Silent_p.L494L|FAM13A_uc011cdq.1_Silent_p.L480L|FAM13A_uc003hsf.1_Silent_p.L420L|FAM13A_uc003hsg.1_Silent_p.L305L NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 834 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CTGTCGTATAGTGGCTTCATC 0.498 NaN 0 0 0 0.012213 0 23 62 TMSL3 7117 broad.mit.edu 37 4 91760120 91760120 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:91760120C>T uc003hsy.2 - 1 150 c.69G>A c.(67-69)ACG>ACA p.T23T FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron NM_183049 NP_898870 thymosin-like 3 0 all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411) Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201) TTTTCTCTTGCGTCTCTGTCT 0.507 NaN 0 0 0 0.006214 0 9 127 C4orf21 55345 broad.mit.edu 37 4 113508784 113508784 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:113508784C>G uc003iau.2 - 12 3640 c.3429G>C c.(3427-3429)CAG>CAC p.Q1143H C4orf21_uc003iav.2_RNA NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GCCACTTGCTCTGAGTAGATA 0.403 NaN 0 0 0 0.010729 0 12 41 ANK2 287 broad.mit.edu 37 4 114275328 114275328 + Nonsense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:114275328G>T uc003ibe.3 + 38 5654 c.5554G>T c.(5554-5556)GAG>TAG p.E1852* ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Nonsense_Mutation_p.E1867* NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1819 Repeat A.|Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGTAAAACTGAGAAACACTC 0.478 NaN 1 0 3.40343e-31 0.01441 3.92785e-31 46 137 ANK2 287 broad.mit.edu 37 4 114275400 114275400 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:114275400G>A uc003ibe.3 + 38 5726 c.5626G>A c.(5626-5628)GAG>AAG p.E1876K ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E1891K NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1843 Repeat A.|Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGTAAAACTGAGAAACACTC 0.458 NaN 0 0 0 0.01441 0 43 128 EXOSC9 5393 broad.mit.edu 37 4 122735121 122735121 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:122735121G>A uc003iea.2 + 10 1183 c.1075G>A c.(1075-1077)GAA>AAA p.E359K EXOSC9_uc003idz.2_Missense_Mutation_p.E359K|EXOSC9_uc003ieb.2_Missense_Mutation_p.E343K|EXOSC9_uc010inp.1_RNA NM_005033 NP_005024 Q06265 EXOS9_HUMAN exosome component 9 isoform 2 359 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 GGAAGATGATGAAGGCGGTGG 0.453 NaN 0 0 0 0.017118 0 32 87 BBS7 55212 broad.mit.edu 37 4 122766713 122766713 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:122766713G>A uc003ied.2 - 11 1350 c.1176C>T c.(1174-1176)GCC>GCT p.A392A BBS7_uc003iee.1_Silent_p.A392A NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 392 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 GGCTGTAACTGGCATCATCTT 0.313 NaN Bardet-Biedl_syndrome 0 0 0 0.020292 0 12 44 C4orf51 646603 broad.mit.edu 37 4 146653608 146653608 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:146653608C>T uc003ikk.2 + 6 505 c.505C>T c.(505-507)CAT>TAT p.H169Y NM_001080531 NP_001074000 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 169 0 TCTCCAGCTTCATGGACGGTG 0.473 NaN 0 0 0 0.02938 0 6 23 DCLK2 166614 broad.mit.edu 37 4 151124998 151124998 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:151124998C>G uc003ilm.3 + 5 1113 c.1013C>G c.(1012-1014)TCC>TGC p.S338C DCLK2_uc003iln.3_Missense_Mutation_p.S338C|DCLK2_uc003ilo.3_Missense_Mutation_p.S355C|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 338 Ser-rich. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) ACGAAATCCTCCAGTTCCTCT 0.393 NaN 0 0 0 0.012319 0 18 109 FHDC1 85462 broad.mit.edu 37 4 153893636 153893636 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:153893636G>A uc003inf.2 + 10 1401 c.1326G>A c.(1324-1326)CTG>CTA p.L442L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 442 FH2. actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) CCATGAAACTGGATGAATGCT 0.393 NaN 0 0 0 0.010504 0 19 81 GUCY1A3 2982 broad.mit.edu 37 4 156638380 156638380 + Nonsense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr4:156638380C>T uc003iov.2 + 9 2178 c.1642C>T c.(1642-1644)CAG>TAG p.Q548* GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc003iow.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc010iqd.2_Nonsense_Mutation_p.Q547*|GUCY1A3_uc003iox.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc003ioz.2_Nonsense_Mutation_p.Q313*|GUCY1A3_uc003ioy.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc010iqe.2_Nonsense_Mutation_p.Q313*|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Nonsense_Mutation_p.Q548* NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 548 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TCATGCTGTTCAGATAGCGCT 0.423 NaN 0 0 0 0.0333 0 14 54 EXOC3 11336 broad.mit.edu 37 5 453801 453801 + Silent SNP T T A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:453801T>A uc003jba.2 + 4 809 c.681T>A c.(679-681)CTT>CTA p.L227L NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 238 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGCGCATACTTGACCGGAAAA 0.507 NaN 0 0 0 0.01892 0 21 91 ADCY2 108 broad.mit.edu 37 5 7773096 7773096 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:7773096C>T uc003jdz.1 + 18 2333 c.2266C>T c.(2266-2268)CGG>TGG p.R756W ADCY2_uc011cmo.1_Missense_Mutation_p.R576W NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 756 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CGTGTTCCTGCGGGTAAACTA 0.502 NaN 0 0 0 0.037714 0 26 126 SEMA5A 9037 broad.mit.edu 37 5 9197325 9197325 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:9197325C>T uc003jek.2 - 10 1735 c.1023G>A c.(1021-1023)TCG>TCA p.S341S NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 341 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AGGCCGAGCGCGAGTTTTCTT 0.592 NaN 0 0 0 0.007413 0 18 64 TRIO 7204 broad.mit.edu 37 5 14387596 14387596 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:14387596G>C uc003jff.2 + 22 3626 c.3620G>C c.(3619-3621)TGT>TCT p.C1207S TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.C1158S|TRIO_uc003jfh.1_Missense_Mutation_p.C856S NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1207 Spectrin 4. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GATGGCTTTTGTGAAAAAGGG 0.448 NaN 0 0 0 0.014323 0 19 73 ITGA2 3673 broad.mit.edu 37 5 52377489 52377489 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:52377489C>T uc003joy.2 + 26 3250 c.3107C>T c.(3106-3108)TCT>TTT p.S1036F ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.S960F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 1036 Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TCTTCTGTATCTTTCAAAAGT 0.398 NaN 0 0 0 0.00308 0 6 20 MAP1B 4131 broad.mit.edu 37 5 71490041 71490041 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:71490041G>A uc003kbw.3 + 5 1100 c.859G>A c.(859-861)GGA>AGA p.G287R MAP1B_uc010iyw.1_Missense_Mutation_p.G304R|MAP1B_uc010iyx.1_Missense_Mutation_p.G161R|MAP1B_uc010iyy.1_Missense_Mutation_p.G161R NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 287 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CATCAATGGCGGATCAGAGAG 0.483 NaN 0 0 0 0.0333 0 17 95 ANKRD34B 340120 broad.mit.edu 37 5 79854455 79854455 + Missense_Mutation SNP C C A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:79854455C>A uc010jam.2 - 4 1734 c.1384G>T c.(1384-1386)GAT>TAT p.D462Y ANKRD34B_uc003kgw.2_Missense_Mutation_p.D462Y|ANKRD34B_uc010jan.2_Missense_Mutation_p.D462Y NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 462 cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) ACATTGATATCTGAGATGGGA 0.413 NaN 1 0 6.97489e-18 0.021022 7.8521e-18 31 160 YTHDC2 64848 broad.mit.edu 37 5 112915339 112915339 + Missense_Mutation SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:112915339A>G uc003kqn.2 + 24 3484 c.3301A>G c.(3301-3303)AAT>GAT p.N1101D NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1101 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AACTACAGCTAATTTGGCAGC 0.373 NaN 0 0 0 0.01441 0 61 138 PAIP2 51247 broad.mit.edu 37 5 138700267 138700267 + Missense_Mutation SNP A A T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:138700267A>T uc003led.2 + 3 330 c.153A>T c.(151-153)TTA>TTT p.L51F PAIP2_uc003lee.2_Missense_Mutation_p.L51F|PAIP2_uc003lef.2_Missense_Mutation_p.L51F NM_016480 NP_057564 Q9BPZ3 PAIP2_HUMAN poly(A) binding protein interacting protein 2 51 Glu-rich.|PABPC1-interacting motif-1 (PAM1). negative regulation of translational initiation cytoplasm protein binding|translation repressor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAGAGGAGTTATGGGAAGAAG 0.348 NaN 0 0 0 0.008291 0 7 49 PCDHA8 56140 broad.mit.edu 37 5 140222772 140222772 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:140222772C>T uc003lhs.2 + 1 1866 c.1866C>T c.(1864-1866)TTC>TTT p.F622F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F622F NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 622 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCCCGTTCCGCGTGGGGC 0.647 NaN 0 0 0 0.01441 0 49 109 PCDHB14 56122 broad.mit.edu 37 5 140603436 140603436 + Missense_Mutation SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:140603436A>G uc003ljb.2 + 1 359 c.359A>G c.(358-360)GAG>GGG p.E120G PCDHB14_uc011dal.1_Intron NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 120 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCGGTTTGAGCTGTGTGTC 0.423 NaN 0 0 0 0.009535 0 24 85 POU4F3 5459 broad.mit.edu 37 5 145719138 145719138 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:145719138G>C uc003loa.2 + 2 237 c.148G>C c.(148-150)GAT>CAT p.D50H NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 50 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAAGCTTTGATGAGAGCCT 0.537 NaN 0 0 0 0.017118 0 31 46 KIF4B 285643 broad.mit.edu 37 5 154395261 154395261 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:154395261G>A uc010jih.1 + 1 2002 c.1842G>A c.(1840-1842)AAG>AAA p.K614K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 614 Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATCTGAAGAAGAAACTGAATG 0.463 NaN 0 0 0 0.019004 0 29 54 ITK 3702 broad.mit.edu 37 5 156679642 156679642 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:156679642C>T uc003lwo.1 + 17 1899 c.1817C>T c.(1816-1818)TCC>TTC p.S606F NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 606 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCAGCCTTCTCCAGACTGCTG 0.468 NaN T SYK peripheral T-cell lymphoma 0 0 0 0.01441 0 37 67 TFAP2A 7020 broad.mit.edu 37 6 10404842 10404842 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:10404842G>A uc003myr.2 - 4 915 c.663C>T c.(661-663)CTC>CTT p.L221L TFAP2A_uc003myq.2_Silent_p.L215L|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.L221L|TFAP2A_uc003myt.2_Silent_p.L217L|TFAP2A_uc003myu.1_Silent_p.L221L NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 221 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AGGTGGAGCTGAGGAGCGAGA 0.622 NaN 0 0 0 0.0333 0 14 29 HSPA1L 3305 broad.mit.edu 37 6 31777967 31777967 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:31777967C>T uc003nxh.2 - 2 1966 c.1783G>A c.(1783-1785)GAT>AAT p.D595N HSPA1L_uc010jte.2_Missense_Mutation_p.D595N NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 595 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 CTCTTATGATCAAACTCATCT 0.448 NaN 0 0 0 0.030466 0 32 97 GPSM3 63940 broad.mit.edu 37 6 32159216 32159216 + Missense_Mutation SNP T T C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:32159216T>C uc003oay.3 - 4 803 c.410A>G c.(409-411)GAG>GGG p.E137G PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.E114G|GPSM3_uc003oaz.2_Missense_Mutation_p.E137G NM_022107 NP_071390 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 (AGS3-like, C. 137 GoLoco 3. signal transduction cytoplasm GTPase activator activity|protein binding 0 CAGCAGCAACTCCAGGAGCTC 0.642 NaN 0 0 0 0.010818 0 31 51 COL21A1 81578 broad.mit.edu 37 6 56006588 56006588 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:56006588C>G uc003pcs.2 - 12 1769 c.1537G>C c.(1537-1539)GAC>CAC p.D513H COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.D513H|COL21A1_uc003pcu.1_Missense_Mutation_p.D510H NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 513 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TTTACCTTGTCACCATCTCGC 0.388 NaN 0 0 0 0.01892 0 19 59 ZNF292 23036 broad.mit.edu 37 6 87971379 87971379 + Missense_Mutation SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:87971379A>G uc003plm.3 + 8 8073 c.8032A>G c.(8032-8034)ACT>GCT p.T2678A NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2678 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAAAGATTGCACTGAGCTTGT 0.348 NaN 0 0 0 0.02938 0 7 16 AIM1 202 broad.mit.edu 37 6 106975304 106975304 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:106975304G>C uc003prh.2 + 5 3800 c.3313G>C c.(3313-3315)GAT>CAT p.D1105H NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1105 Beta/gamma crystallin 'Greek key' 2. 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) AGCAGAGTCTGATAAGCCAGT 0.403 NaN 0 0 0 0.01441 0 52 258 LAMA2 3908 broad.mit.edu 37 6 129573422 129573422 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:129573422G>A uc003qbn.2 + 14 2183 c.2078G>A c.(2077-2079)GGG>GAG p.G693E LAMA2_uc003qbo.2_Missense_Mutation_p.G693E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 693 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TACAGCTTTGGGATGGATGCC 0.448 NaN 0 0 0 0.00308 0 7 62 EPB41L2 2037 broad.mit.edu 37 6 131190961 131190961 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:131190961C>T uc003qch.2 - 15 2531 c.2349G>A c.(2347-2349)CCG>CCA p.P783P EPB41L2_uc003qce.1_Silent_p.P161P|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Silent_p.P713P|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Silent_p.P713P|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Silent_p.P180P NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 783 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CCTTGGCTGCCGGGCGGGGTT 0.577 NaN 0 0 0 0.01441 0 47 220 TAAR9 134860 broad.mit.edu 37 6 132860331 132860331 + Nonsense_Mutation SNP T T A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:132860331T>A uc011eci.1 + 2 905 c.903T>A c.(901-903)TAT>TAA p.Y301* NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 301 Helical; Name=7; (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) GGTGTGTTTATTATAATTCAG 0.348 NaN 0 0 0 0.014758 0 4 12 SHPRH 257218 broad.mit.edu 37 6 146256489 146256489 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:146256489C>G uc003qlf.2 - 12 3057 c.2658G>C c.(2656-2658)AAG>AAC p.K886N SHPRH_uc003qld.2_Missense_Mutation_p.K886N|SHPRH_uc003qle.2_Missense_Mutation_p.K886N|SHPRH_uc003qlg.1_Missense_Mutation_p.K442N|SHPRH_uc003qlj.1_Missense_Mutation_p.K775N|SHPRH_uc003qlh.2_5'Flank NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 886 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GAGGATTCTTCTTGCAGTAAG 0.393 NaN 0 0 0 0.020292 0 14 47 IPCEF1 26034 broad.mit.edu 37 6 154521101 154521101 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:154521101G>T uc003qpx.2 - 10 764 c.608C>A c.(607-609)ACA>AAA p.T203K OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Missense_Mutation_p.T74K|IPCEF1_uc003qpw.2_Missense_Mutation_p.T204K|IPCEF1_uc010kjh.2_Missense_Mutation_p.T204K NM_015553 NP_056368 Q8WWN9 ICEF1_HUMAN phosphoinositide-binding protein PIP3-E isoform 203 Ser-rich. response to oxidative stress cytoplasm|plasma membrane oxygen transporter activity|peroxidase activity 0 TGTCTTCACTGTATTTTCCAG 0.433 NaN 1 0 0.00621372 0.006214 0.00631699 8 91 FNDC1 84624 broad.mit.edu 37 6 159653694 159653694 + Nonsense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr6:159653694C>G uc010kjv.2 + 11 2350 c.2150C>G c.(2149-2151)TCA>TGA p.S717* FNDC1_uc010kjw.1_Nonsense_Mutation_p.S602* NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 717 Ser-rich. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCCCACCCTCAAGACTTTCT 0.657 NaN 0 0 0 0.02938 0 7 16 ZNF12 7559 broad.mit.edu 37 7 6730643 6730643 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:6730643G>A uc003sqt.1 - 5 2484 c.1930C>T c.(1930-1932)CGG>TGG p.R644W ZNF12_uc011jxa.1_Missense_Mutation_p.R482W|ZNF12_uc003sqs.1_Missense_Mutation_p.R606W NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 644 C2H2-type 14. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TATGACATCCGAGAGAAGGCT 0.393 NaN 0 0 0 0.01441 0 46 95 ZNF12 7559 broad.mit.edu 37 7 6730858 6730858 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:6730858G>A uc003sqt.1 - 5 2269 c.1715C>T c.(1714-1716)TCA>TTA p.S572L ZNF12_uc011jxa.1_Missense_Mutation_p.S410L|ZNF12_uc003sqs.1_Missense_Mutation_p.S534L NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 572 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CTTCTCTCCTGAATGAATTCT 0.413 NaN 0 0 0 0.012319 0 16 65 ZNF12 7559 broad.mit.edu 37 7 6730881 6730881 + Silent SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:6730881G>C uc003sqt.1 - 5 2246 c.1692C>G c.(1690-1692)CTC>CTG p.L564L ZNF12_uc011jxa.1_Silent_p.L402L|ZNF12_uc003sqs.1_Silent_p.L526L NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 564 C2H2-type 11. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GATGTATAGTGAGGTATGACA 0.408 NaN 0 0 0 0.008871 0 15 58 DGKB 1607 broad.mit.edu 37 7 14724975 14724975 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:14724975C>T uc003ssz.2 - 9 911 c.724G>A c.(724-726)GAT>AAT p.D242N DGKB_uc011jxt.1_Missense_Mutation_p.D235N|DGKB_uc003sta.2_Missense_Mutation_p.D242N|DGKB_uc011jxu.1_Missense_Mutation_p.D242N|DGKB_uc011jxv.1_Missense_Mutation_p.D242N NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 242 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TGCTGTCCATCATCCTTCACG 0.463 NaN 0 0 0 0.021523 0 19 72 DNAH11 8701 broad.mit.edu 37 7 21723453 21723453 + Nonsense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:21723453G>T uc003svc.2 + 33 5564 c.5533G>T c.(5533-5535)GAG>TAG p.E1845* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1845 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCACCGATGGGAGGATACCCA 0.458 NaN Kartagener_syndrome 1 0 3.28156e-27 0.01441 3.76353e-27 50 279 STK31 56164 broad.mit.edu 37 7 23802426 23802426 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:23802426G>A uc003sws.3 + 11 1367 c.1300G>A c.(1300-1302)GGG>AGG p.G434R STK31_uc003swt.3_Missense_Mutation_p.G411R|STK31_uc011jze.1_Missense_Mutation_p.G434R|STK31_uc010kuq.2_Missense_Mutation_p.G411R NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 434 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CCAGAGTGAAGGGAATATTTT 0.333 NaN 0 0 0 0.027894 0 37 66 ADCYAP1R1 117 broad.mit.edu 37 7 31132288 31132288 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:31132288G>T uc003tca.1 + 13 1208 c.985G>T c.(985-987)GTC>TTC p.V329F ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.V308F|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.V31F NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 329 Helical; Name=5; (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 TGGCATTATCGTCATCCTTGT 0.428 NaN 1 0 4.7546e-09 0.028581 5.20878e-09 15 73 OGDH 4967 broad.mit.edu 37 7 44734097 44734097 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:44734097C>T uc003tln.2 + 12 1699 c.1590C>T c.(1588-1590)ATC>ATT p.I530I OGDH_uc011kbx.1_Silent_p.I526I|OGDH_uc011kby.1_Silent_p.I380I|OGDH_uc003tlp.2_Silent_p.I541I|OGDH_uc011kbz.1_Silent_p.I325I|OGDH_uc003tlo.1_Silent_p.I363I NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 530 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) ACAAGCAGATCCGCAAGCAGA 0.572 NaN 0 0 0 0.037714 0 25 61 HUS1 3364 broad.mit.edu 37 7 48004979 48004979 + Nonsense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:48004979G>A uc003tod.1 - 8 947 c.817C>T c.(817-819)CAG>TAG p.Q273* HUS1_uc003toe.1_Nonsense_Mutation_p.Q273*|HUS1_uc011kce.1_RNA NM_004507 NP_004498 O60921 HUS1_HUMAN HUS1 checkpoint protein 273 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding ovary(2)|lung(2)|kidney(1) 5 Breast(660;0.00139) ATGAAATACTGAAGGGACACG 0.483 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 0 0 0 0.025465 0 33 115 CCT6A 908 broad.mit.edu 37 7 56126340 56126340 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:56126340C>G uc003trl.1 + 8 1077 c.913C>G c.(913-915)CTT>GTT p.L305V PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.L260V|CCT6A_uc011kcu.1_Missense_Mutation_p.L274V|SNORA15_uc003trn.1_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 305 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTTAGATGCTCTTTCAAAAGA 0.343 NaN 0 0 0 0.0333 0 14 45 CROT 54677 broad.mit.edu 37 7 87020948 87020948 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:87020948C>T uc003uit.2 + 14 1590 c.1345C>T c.(1345-1347)CAT>TAT p.H449Y CROT_uc003uiu.2_Missense_Mutation_p.H477Y NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 449 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) ACATTTTTATCATGGCCGTAC 0.388 NaN 0 0 0 0.037714 0 23 46 DBF4 10926 broad.mit.edu 37 7 87529553 87529553 + Missense_Mutation SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:87529553A>G uc003ujf.1 + 9 1202 c.698A>G c.(697-699)TAT>TGT p.Y233C DBF4_uc003ujh.1_Intron|DBF4_uc003ujg.1_Missense_Mutation_p.Y9C|DBF4_uc011khf.1_Intron NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 233 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) AGGCCATTTTATCTTCAGCTG 0.299 NaN 0 0 0 0.008291 0 9 66 MTERF 7978 broad.mit.edu 37 7 91503486 91503486 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:91503486G>C uc003ulb.1 - 2 666 c.622C>G c.(622-624)CTT>GTT p.L208V MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.L208V|MTERF_uc011khm.1_Missense_Mutation_p.L188V|MTERF_uc010leu.1_Missense_Mutation_p.L188V NM_006980 NP_008911 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 208 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding 0 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) TTCAGATCAAGACTATTGGAG 0.383 NaN 0 0 0 0.013537 0 12 66 COL1A2 1278 broad.mit.edu 37 7 94053674 94053674 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:94053674G>A uc003ung.1 + 41 3063 c.2592G>A c.(2590-2592)CAG>CAA p.Q864Q COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 864 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CAGGTCCTCAGGGTCTTCTTG 0.498 NaN HNSCC(75;0.22) 0 0 0 0.020292 0 10 94 TMEM130 222865 broad.mit.edu 37 7 98449087 98449087 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:98449087G>C uc003upo.2 - 6 1152 c.963C>G c.(961-963)ATC>ATG p.I321M TMEM130_uc011kiq.1_Missense_Mutation_p.I302M|TMEM130_uc011kir.1_Missense_Mutation_p.I321M|TMEM130_uc003upn.2_Missense_Mutation_p.I219M NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN transmembrane protein 130 isoform a 321 Extracellular (Potential). Golgi membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTGTCTTGCTGATGATATTCT 0.582 NaN 0 0 0 0.016723 0 11 106 ZKSCAN5 23660 broad.mit.edu 37 7 99123756 99123756 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:99123756C>T uc003uqv.2 + 6 1217 c.1093C>T c.(1093-1095)CGG>TGG p.R365W ZKSCAN5_uc010lfx.2_Missense_Mutation_p.R365W|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.R365W|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.R292W|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.R101W NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 365 C2H2-type 1. 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) TATTCAGCATCGGCGCATCCA 0.537 NaN 0 0 0 0.020292 0 14 82 VGF 7425 broad.mit.edu 37 7 100806828 100806828 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:100806828C>T uc003uxx.3 - 2 1515 c.1297G>A c.(1297-1299)GAG>AAG p.E433K NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 433 Asp/Glu-rich (acidic). response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) tctgtcccctcggcctccttc 0.493 NaN 0 0 0 0.004482 0 9 9 PTPRZ1 5803 broad.mit.edu 37 7 121650934 121650934 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:121650934G>A uc003vjy.2 + 12 2229 c.1834G>A c.(1834-1836)GAA>AAA p.E612K PTPRZ1_uc003vjz.2_Missense_Mutation_p.E612K|PTPRZ1_uc011knt.1_Missense_Mutation_p.E62K NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 612 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ATTTTCCTCCGAAAACCCAGA 0.418 NaN 0 0 0 0.024245 0 12 33 PLXNA4 91584 broad.mit.edu 37 7 131866328 131866328 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:131866328C>T uc003vra.3 - 18 3533 c.3304G>A c.(3304-3306)GCT>ACT p.A1102T NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1102 Extracellular (Potential).|IPT/TIG 3. integral to membrane|intracellular|plasma membrane ovary(1) 1 GGACCCAGAGCGAGGGCGGGC 0.577 NaN 0 0 0 0.014323 0 21 36 DGKI 9162 broad.mit.edu 37 7 137150661 137150661 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:137150661C>T uc003vtt.2 - 27 2630 c.2629G>A c.(2629-2631)GCC>ACC p.A877T DGKI_uc003vtu.2_Missense_Mutation_p.A587T NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 877 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CACCCCGAGGCTTGTTCCACC 0.542 NaN 0 0 0 0.013537 0 10 59 FAM115C 285966 broad.mit.edu 37 7 143417071 143417071 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:143417071C>G uc003wdf.2 + 3 1002 c.919C>G c.(919-921)CTA>GTA p.L307V FAM115C_uc003wdg.2_Missense_Mutation_p.L26V|FAM115C_uc011ktk.1_Missense_Mutation_p.L307V|FAM115C_uc003wdh.2_Missense_Mutation_p.L307V|FAM115C_uc011ktm.1_Missense_Mutation_p.L307V|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Missense_Mutation_p.L143V|FAM115C_uc003wdi.1_Missense_Mutation_p.L26V NM_001130025 NP_001123497 A6NFQ2 F115C_HUMAN hypothetical protein LOC285966 isoform A 307 0 GAACACAAATCTAAAAGATCT 0.572 NaN 0 0 0 0.014758 0 5 26 ANK1 286 broad.mit.edu 37 8 41554068 41554068 + Missense_Mutation SNP A A T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:41554068A>T uc003xok.2 - 26 2857 c.2773T>A c.(2773-2775)TCC>ACC p.S925T NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S241T|ANK1_uc003xoi.2_Missense_Mutation_p.S925T|ANK1_uc003xoj.2_Missense_Mutation_p.S925T|ANK1_uc003xol.2_Missense_Mutation_p.S925T|ANK1_uc003xom.2_Missense_Mutation_p.S966T NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 925 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCTCTCATGGAACCACCCCGG 0.637 NaN 0 0 0 0.020292 0 14 25 KIAA0146 23514 broad.mit.edu 37 8 48309024 48309024 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:48309024C>T uc003xqd.2 + 6 623 c.614C>T c.(613-615)CCT>CTT p.P205L KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.P205L|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.P135L|KIAA0146_uc011ldd.1_Missense_Mutation_p.P145L|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 205 0 Lung NSC(58;0.175) TCAGAATCCCCTCACAAATAC 0.363 NaN 0 0 0 0.024245 0 14 87 TRAM1 23471 broad.mit.edu 37 8 71520314 71520314 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:71520314C>G uc003xyo.1 - 1 291 c.121G>C c.(121-123)GAG>CAG p.E41Q TRAM1_uc011lfc.1_Missense_Mutation_p.E10Q NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 41 Helical; (Potential). cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) GGGCTCACCTCAAACATGAGC 0.692 NaN 0 0 0 0.004672 0 3 33 ZNF572 137209 broad.mit.edu 37 8 125987911 125987911 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:125987911C>T uc003yrr.2 + 2 184 c.29C>T c.(28-30)TCA>TTA p.S10L NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CTGTTGGTCTCAGATTCTAAC 0.378 NaN HNSCC(60;0.17) 0 0 0 0.014323 0 16 117 ZNF572 137209 broad.mit.edu 37 8 125988884 125988884 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:125988884C>T uc003yrr.2 + 3 529 c.374C>T c.(373-375)TCA>TTA p.S125L NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CAGCAGAATTCATCCTTTGTA 0.428 NaN HNSCC(60;0.17) 0 0 0 0.020292 0 14 120 ZNF572 137209 broad.mit.edu 37 8 125989705 125989705 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:125989705C>G uc003yrr.2 + 3 1350 c.1195C>G c.(1195-1197)CTC>GTC p.L399V NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 399 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TAGCTCCCATCTCATTAGACA 0.428 NaN HNSCC(60;0.17) 0 0 0 0.008871 0 15 107 EFR3A 23167 broad.mit.edu 37 8 132991207 132991207 + Missense_Mutation SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:132991207G>T uc003yte.2 + 13 1641 c.1440G>T c.(1438-1440)TTG>TTT p.L480F NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 480 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) AGTTGGTCTTGGAAGTAATGC 0.418 NaN 1 0 3.65163e-15 0.030593 4.09831e-15 21 184 PLEC 5339 broad.mit.edu 37 8 144991923 144991923 + Silent SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:144991923G>T uc003zaf.1 - 32 12647 c.12477C>A c.(12475-12477)CTC>CTA p.L4159L PLEC_uc003zab.1_Silent_p.L4022L|PLEC_uc003zac.1_Silent_p.L4026L|PLEC_uc003zad.2_Silent_p.L4022L|PLEC_uc003zae.1_Silent_p.L3990L|PLEC_uc003zag.1_Silent_p.L4000L|PLEC_uc003zah.2_Silent_p.L4008L|PLEC_uc003zaj.2_Silent_p.L4049L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4159 Globular 2.|Plectin 24. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGAGGGAGATGAGCTTCCCAG 0.632 NaN 1 0 2.61681e-11 0.020292 2.91021e-11 12 54 MFSD3 113655 broad.mit.edu 37 8 145736008 145736008 + Silent SNP G G T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr8:145736008G>T uc003zdi.1 + 3 1023 c.858G>T c.(856-858)GTG>GTT p.V286V NM_138431 NP_612440 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 286 Leu-rich. transmembrane transport integral to membrane central_nervous_system(2) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGAGGTCGGTGCTGCGCTTCC 0.617 NaN 1 0 2.68985e-26 0.01441 3.07531e-26 36 190 DMRT2 10655 broad.mit.edu 37 9 1057268 1057268 + Nonsense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:1057268C>T uc003zha.2 + 4 1881 c.1681C>T c.(1681-1683)CAG>TAG p.Q561* DMRT2_uc003zgx.3_Nonsense_Mutation_p.Q328*|DMRT2_uc010mgz.2_Nonsense_Mutation_p.Q328*|DMRT2_uc003zgy.3_Nonsense_Mutation_p.Q405*|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Nonsense_Mutation_p.Q561* NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 561 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) TCGTGTCTCTCAGTGAAAGGC 0.383 NaN 0 0 0 0.012319 0 18 112 GLIS3 169792 broad.mit.edu 37 9 3898796 3898796 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:3898796C>G uc003zhw.1 - 6 1752 c.1558G>C c.(1558-1560)GAT>CAT p.D520H GLIS3_uc003zhx.1_Missense_Mutation_p.D675H|GLIS3_uc010mhf.1_Missense_Mutation_p.D69H|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.D453H|GLIS3_uc003zhz.1_Missense_Mutation_p.D453H|C9orf70_uc003zia.2_RNA NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 520 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GTGAGGCAATCTGTGAGCAGG 0.587 NaN 0 0 0 0.010818 0 29 55 KIAA1432 57589 broad.mit.edu 37 9 5746003 5746003 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:5746003G>A uc003zji.2 + 10 1024 c.931G>A c.(931-933)GAC>AAC p.D311N KIAA1432_uc003zjh.2_Missense_Mutation_p.D311N|KIAA1432_uc003zjl.3_Missense_Mutation_p.D311N|KIAA1432_uc003zjj.1_5'UTR NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 390 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AATTGAGTCTGACCTCAGGAG 0.408 NaN 0 0 0 0.024334 0 21 126 IFNA16 3449 broad.mit.edu 37 9 21216778 21216778 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:21216778G>C uc003zor.1 - 1 533 c.527C>G c.(526-528)TCT>TGT p.S176C IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN interferon, alpha 16 precursor 176 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding skin(1) 1 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGTTGAAAAAGAGAAGGATCT 0.373 NaN 0 0 0 0.01441 0 169 278 LINGO2 158038 broad.mit.edu 37 9 27950351 27950351 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:27950351G>A uc003zqu.1 - 2 513 c.319C>T c.(319-321)CTG>TTG p.L107L LINGO2_uc010mjf.1_Silent_p.L107L|LINGO2_uc003zqv.1_Silent_p.L107L NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 107 LRR 3.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) AGGGAACGCAGGTTAAAGAGA 0.448 NaN 0 0 0 0.01441 0 78 121 TAF1L 138474 broad.mit.edu 37 9 32632499 32632499 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:32632499G>A uc003zrg.1 - 1 3169 c.3079C>T c.(3079-3081)CGT>TGT p.R1027C uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1027 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCAAATTTACGTAGAAGTTGC 0.473 NaN 0 0 0 0.01441 0 42 275 TRPM6 140803 broad.mit.edu 37 9 77376712 77376712 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:77376712G>C uc004ajl.1 - 27 4923 c.4685C>G c.(4684-4686)TCT>TGT p.S1562C TRPM6_uc004ajk.1_Missense_Mutation_p.S1557C|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.S518C NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1562 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TATTTCTGAAGAGCCTGAAAG 0.428 NaN 0 0 0 0.008871 0 15 43 VPS13A 23230 broad.mit.edu 37 9 79898509 79898509 + Silent SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:79898509C>T uc004akr.2 + 31 3542 c.3282C>T c.(3280-3282)AAC>AAT p.N1094N VPS13A_uc004akp.3_Silent_p.N1094N|VPS13A_uc004akq.3_Silent_p.N1094N|VPS13A_uc004aks.2_Silent_p.N1055N NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1094 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 CTGAAATAAACGCAAAGCTAA 0.284 NaN 0 0 0 0.014323 0 18 28 TLE1 7088 broad.mit.edu 37 9 84230956 84230956 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:84230956G>C uc004aly.2 - 11 1300 c.859C>G c.(859-861)CCA>GCA p.P287A TLE1_uc004alz.2_Missense_Mutation_p.P297A|TLE1_uc011lsr.1_Missense_Mutation_p.P287A|TLE1_uc004ama.1_Missense_Mutation_p.P287A|TLE1_uc011lss.1_Missense_Mutation_p.P213A NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 287 Pro/Ser-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 GTGGAAGCTGGACTGCTAGAA 0.502 NaN 0 0 0 0.024245 0 15 75 MRPL50 54534 broad.mit.edu 37 9 104153059 104153059 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:104153059G>C uc004bbe.2 - 2 211 c.166C>G c.(166-168)CGA>GGA p.R56G MRPL50_uc011lvj.1_Missense_Mutation_p.R56G NM_019051 NP_061924 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 56 mitochondrion|ribosome 0 Acute lymphoblastic leukemia(62;0.0559) GCTCGGCTTCGTAAAGGTGGA 0.408 NaN 0 0 0 0.021523 0 18 58 OR13C5 138799 broad.mit.edu 37 9 107360932 107360932 + Missense_Mutation SNP T T C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr9:107360932T>C uc011lvp.1 - 1 763 c.763A>G c.(763-765)ATC>GTC p.I255V NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 ATGAGGAAGATGGTCCCACAG 0.438 NaN 0 0 0 0.017118 0 30 49 SRPX 8406 broad.mit.edu 37 X 38019289 38019289 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chrX:38019289G>A uc004ddy.1 - 7 1022 c.936C>T c.(934-936)GGC>GGT p.G312G SRPX_uc004ddz.1_Silent_p.G292G|SRPX_uc011mkh.1_Silent_p.G253G|SRPX_uc011mki.1_Silent_p.G312G NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 312 Sushi 3. cell adhesion cell surface|membrane 0 TGGGCTCCGTGCCAGACCAAG 0.567 NaN 0 0 0 0.014758 0 4 7 SMC1A 8243 broad.mit.edu 37 X 53438989 53438989 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chrX:53438989C>T uc004dsg.2 - 6 1138 c.1069G>A c.(1069-1071)GAG>AAG p.E357K SMC1A_uc011moe.1_Missense_Mutation_p.E335K|SMC1A_uc011mof.1_Intron NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 357 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 CTCTGACTCTCTTCTTCCATC 0.527 NaN 0 0 0 0.009096 0 4 6 USP51 158880 broad.mit.edu 37 X 55514287 55514287 + Silent SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chrX:55514287C>G uc004dun.1 - 2 1165 c.1086G>C c.(1084-1086)CTG>CTC p.L362L USP51_uc011moo.1_Silent_p.L66L NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 362 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 TTAGCCCTCTCAGGCCTACAG 0.403 NaN 0 0 0 0.014323 0 20 32 PHKA1 5255 broad.mit.edu 37 X 71840611 71840611 + Missense_Mutation SNP A A C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chrX:71840611A>C uc004eax.3 - 19 2402 c.2101T>G c.(2101-2103)TCC>GCC p.S701A PHKA1_uc004eay.3_Missense_Mutation_p.S701A|PHKA1_uc011mqi.1_Intron NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 701 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) GTCACCAAGGACATTAAGTCG 0.552 NaN 0 0 0 0.021553 0 5 38 L1CAM 3897 broad.mit.edu 37 X 153131202 153131202 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chrX:153131202G>A uc004fjb.2 - 19 2612 c.2504C>T c.(2503-2505)CCG>CTG p.P835L L1CAM_uc004fjc.2_Missense_Mutation_p.P835L|L1CAM_uc010nuo.2_Missense_Mutation_p.P830L NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 835 Extracellular (Potential).|Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGGTCCACCGGCCGCCACTT 0.587 NaN 0 0 0 0.01441 0 35 98 DNASE1L1 1774 broad.mit.edu 37 X 153631496 153631496 + Silent SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chrX:153631496G>A uc004fks.1 - 7 752 c.561C>T c.(559-561)TGC>TGT p.C187C RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Silent_p.C187C|DNASE1L1_uc004fku.1_Silent_p.C187C|DNASE1L1_uc004fkv.1_Silent_p.C187C|DNASE1L1_uc004fkw.1_Silent_p.C187C NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor 187 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCAGTGAAGCGCAGTCAGCAT 0.602 NaN 0 0 0 0.021553 0 5 84 CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:70509285_70509286delGA uc001joo.2 + 10 1080_1081 c.961_962delGA c.(961-963)GAGfs p.E321fs CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Frame_Shift_Del_p.E126fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.E295fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.E267fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 TTTCAGTCGTGAGAGAGAGAGA 0.391 NaN NaN NaN NaN NaN NaN 8 65 --- --- PLAU 5328 broad.mit.edu 37 10 75673458 75673459 + Frame_Shift_Del DEL GT GT - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr10:75673458_75673459delGT uc001jwa.2 + 7 768_769 c.622_623delGT c.(622-624)GTGfs p.V208fs C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Frame_Shift_Del_p.V191fs|PLAU_uc010qkx.1_Frame_Shift_Del_p.V122fs|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Frame_Shift_Del_p.V208fs|PLAU_uc009xrq.1_Frame_Shift_Del_p.V172fs NM_002658 NP_002649 P00749 UROK_HUMAN plasminogen activator, urokinase isoform 1 208 Peptidase S1. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity ovary(2)|kidney(1) 3 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) TGTCACCTACGTGTGTGGAGGC 0.599 NaN NaN NaN NaN NaN NaN 202 79 --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:76506673_76506675delCTG uc001oxt.2 + 2 185_187 c.13_15delCTG c.(13-15)CTGdel p.L9del NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 9 extracellular region 0 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 NaN NaN NaN NaN NaN NaN 9 108 --- --- MLL 4297 broad.mit.edu 37 11 118374297 118374298 + Frame_Shift_Ins INS - - CCTC TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 - CCTC - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr11:118374297_118374298insCCTC uc001pta.2 + 27 7704_7705 c.7681_7682insCCTC c.(7681-7683)GCCfs p.A2561fs MLL_uc001ptb.2_Frame_Shift_Ins_p.A2564fs NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2561 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) ACCAATTTCAGCCTCTGAAAAT 0.431 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 NaN NaN NaN NaN NaN 20 60 --- --- DNM1L 10059 broad.mit.edu 37 12 32861134 32861135 + Frame_Shift_Del DEL AG AG - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:32861134_32861135delAG uc001rld.2 + 4 506_507 c.345_346delAG c.(343-348)ACAGAAfs p.T115fs DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Frame_Shift_Del_p.T115fs|DNM1L_uc001rlf.2_Frame_Shift_Del_p.T115fs|DNM1L_uc010skh.1_Frame_Shift_Del_p.T181fs|DNM1L_uc001rlg.2_Frame_Shift_Del_p.T181fs|DNM1L_uc001rlh.2_Frame_Shift_Del_p.T168fs|DNM1L_uc010ski.1_Intron NM_012062 NP_036192 O00429 DNM1L_HUMAN dynamin 1-like isoform 1 115_116 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AAAATGAAACAGAAAGAATTTC 0.262 NaN NaN NaN NaN NaN NaN 45 49 --- --- ASCL1 429 broad.mit.edu 37 12 103352172 103352174 + In_Frame_Del DEL GCA GCA - rs72405287 TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr12:103352172_103352174delGCA uc001tjr.3 + 1 721_723 c.150_152delGCA c.(148-153)GCGCAG>GCG p.Q62del NM_004316 NP_004307 P50553 ASCL1_HUMAN achaete-scute complex homolog 1 62 Poly-Gln. Q -> QQQ (in Ref. 1). cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 cgcagagcgcgcagcagcagcag 0.443 NaN NaN NaN NaN NaN NaN 2 4 --- --- BEGAIN 57596 broad.mit.edu 37 14 101005271 101005273 + In_Frame_Del DEL CCT CCT - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr14:101005271_101005273delCCT uc010txa.1 - 6 961_963 c.815_817delAGG c.(814-819)GAGGCC>GCC p.E272del BEGAIN_uc001yhp.2_In_Frame_Del_p.E208del|BEGAIN_uc001yhq.2_In_Frame_Del_p.E272del NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 272 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) GCCGCCTCGGCCTCCTCCTCCTC 0.724 NaN NaN NaN NaN NaN NaN 7 18 --- --- MMP28 79148 broad.mit.edu 37 17 34093889 34093889 + Frame_Shift_Del DEL C C - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr17:34093889delC uc002hjy.1 - 10 1452 c.1193delG c.(1192-1194)GGCfs p.G398fs MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 398 Hemopexin-like 2. proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGGCTTGGGGCCCCGGAACCT 0.682 NaN OREG0024329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 2 4 --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr3:126178522delT uc003eiv.2 - 7 2240 c.2186delA c.(2185-2187)AAGfs p.K729fs ZXDC_uc010hsh.2_Intron|ZXDC_uc003eix.2_3'UTR NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 NaN NaN NaN NaN NaN NaN 10 890 --- --- PCDHA11 56138 broad.mit.edu 37 5 140249748 140249748 + Frame_Shift_Del DEL T T - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr5:140249748delT uc003lia.2 + 1 1918 c.1060delT c.(1060-1062)TTGfs p.L354fs PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Frame_Shift_Del_p.L354fs NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 354 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGACTTCCTTGTCCCTCCC 0.572 NaN NaN NaN NaN NaN NaN 43 66 --- --- PSPH 5723 broad.mit.edu 37 7 56087292 56087292 + Splice_Site DEL C C - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:56087292delC uc003trg.2 - 4 638 c.275_splice c.e4+1 p.R92_splice PSPH_uc003trh.2_Splice_Site_p.R92_splice|PSPH_uc003tri.2_Splice_Site_p.R92_splice|PSPH_uc003trj.2_Splice_Site_p.R121_splice NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTTCCTCTTACCTTATGCCGG 0.577 NaN NaN NaN NaN NaN NaN 9 98 --- --- ZNF777 27153 broad.mit.edu 37 7 149128965 149128966 + Frame_Shift_Del DEL GC GC - TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chr7:149128965_149128966delGC uc003wfv.2 - 6 2560_2561 c.2397_2398delGC c.(2395-2400)GCGCACfs p.A799fs NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 Error:Variant_position_missing_in_Q9ULD5_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCGCCCGTGTGCGCGCGCTGGT 0.668 NaN NaN NaN NaN NaN NaN 8 43 --- --- ITIH5L 347365 broad.mit.edu 37 X 54824559 54824560 + Frame_Shift_Ins INS - - G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36524c53-ac54-4a42-a982-bed2e4354268 c92207a3-53ed-4c88-9234-ade71d89f609 g.chrX:54824559_54824560insG uc004dtj.2 - 1 114_115 c.84_85insC c.(82-87)CCCGCTfs p.P28fs NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 28_29 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CTTGATGAAGCGGGGACAGGGG 0.48 NaN NaN NaN NaN NaN NaN 2 4 --- ---