Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter DEPDC1 55635 broad.mit.edu 37 1 68948029 68948029 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:68948029T>C uc001dem.3 - 8 1579 c.1462A>G c.(1462-1464)ACT>GCT p.T488A DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 488 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) ACAGTCAAAGTAGAGGTTCTC 0.378 16 43 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75107143 75107143 + Nonsense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:75107143C>A uc001dgg.2 - 5 535 c.316G>T c.(316-318)GGA>TGA p.G106* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 106 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GTGTGCTCTCCCTAGAATAAG 0.393 5 49 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75107144 75107144 + Splice_Site SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:75107144C>G uc001dgg.2 - 5 535 c.316_splice c.e5-1 p.G106_splice NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGTGCTCTCCCTAGAATAAGA 0.393 5 49 --- --- --- --- PASS FAM73A 374986 broad.mit.edu 37 1 78324687 78324687 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:78324687A>G uc001dhx.2 + 9 1093 c.1061A>G c.(1060-1062)TAC>TGC p.Y354C FAM73A_uc010ork.1_Missense_Mutation_p.Y354C|FAM73A_uc010orl.1_Missense_Mutation_p.Y316C|FAM73A_uc001dhy.1_Missense_Mutation_p.Y143C NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 354 integral to membrane ovary(1) 1 Colorectal(170;0.226) TGCCCATTTTACGAGGAAGCC 0.403 5 79 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154316660 154316660 + Silent SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:154316660G>T uc001fex.2 + 19 2064 c.2064G>T c.(2062-2064)GGG>GGT p.G688G NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 674 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TTCAGCAAGGGGTTCCAGAGA 0.557 7 66 --- --- --- --- PASS DCST1 149095 broad.mit.edu 37 1 155014074 155014074 + Missense_Mutation SNP A C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:155014074A>C uc001fgn.1 + 7 829 c.733A>C c.(733-735)AAG>CAG p.K245Q DCST1_uc010per.1_Missense_Mutation_p.K270Q|DCST1_uc010pes.1_Missense_Mutation_p.K220Q NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 245 Extracellular (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GCTGAAGACCAAGCTGCGTTG 0.612 17 71 --- --- --- --- PASS DARC 2532 broad.mit.edu 37 1 159175347 159175347 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:159175347G>C uc001fto.2 + 2 358 c.118G>C c.(118-120)GAC>CAC p.D40H DARC_uc001ftp.3_Missense_Mutation_p.D42H NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 40 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) CCCAGATGGAGACTATGGTGC 0.537 8 89 --- --- --- --- PASS SLAMF8 56833 broad.mit.edu 37 1 159799706 159799706 + Missense_Mutation SNP G A A rs138614766 TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:159799706G>A uc001fue.3 + 2 301 c.91G>A c.(91-93)GGC>AGC p.G31S NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN SLAM family member 8 precursor 31 Extracellular (Potential). integral to membrane 0 all_hematologic(112;0.0597) CAAAGTCGGGGGCTCGGTGCT 0.597 9 229 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169489877 169489877 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:169489877G>T uc001ggg.1 - 22 6219 c.6074C>A c.(6073-6075)TCT>TAT p.S2025Y NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 2025 F5/8 type C 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) TTTTATTGTAGAGGCATCTGA 0.333 8 58 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169511269 169511269 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:169511269A>G uc001ggg.1 - 13 3204 c.3059T>C c.(3058-3060)CTG>CCG p.L1020P NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1020 B. 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) GCTTTTCTTCAGTCTACTCTT 0.433 45 260 --- --- --- --- PASS SERPINC1 462 broad.mit.edu 37 1 173880956 173880956 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:173880956A>G uc001gjt.2 - 3 724 c.605T>C c.(604-606)CTC>CCC p.L202P NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 202 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) CAGGGGCTGGAGCTTGGCTCC 0.493 32 117 --- --- --- --- PASS SERPINC1 462 broad.mit.edu 37 1 173880990 173880990 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:173880990G>C uc001gjt.2 - 3 690 c.571C>G c.(571-573)CAG>GAG p.Q191E NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 191 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) CTGATGTCCTGGTAGGTCTCA 0.488 34 125 --- --- --- --- PASS RC3H1 149041 broad.mit.edu 37 1 173962058 173962058 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:173962058G>A uc001gju.3 - 1 153 c.66C>T c.(64-66)GAC>GAT p.D22D RC3H1_uc010pms.1_Silent_p.D22D|RC3H1_uc001gjv.2_Silent_p.D22D|RC3H1_uc010pmt.1_Silent_p.D22D NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 22 RING-type; degenerate. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GAATTGTTTCGTCGAAAGTCT 0.478 4 111 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179460734 179460734 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:179460734C>T uc001gmo.2 + 19 2280 c.2153C>T c.(2152-2154)CCC>CTC p.P718L C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.P718L|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 718 0 TTAATGATACCCAACTTTACT 0.378 7 92 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197026480 197026480 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:197026480C>T uc001gtt.1 - 6 965 c.921G>A c.(919-921)GAG>GAA p.E307E NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 307 Sushi 5. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ACCCATGGATCTCAAAATTAA 0.378 21 126 --- --- --- --- PASS SYT2 127833 broad.mit.edu 37 1 202572227 202572227 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:202572227G>A uc001gye.2 - 4 558 c.365C>T c.(364-366)ACA>ATA p.T122I SYT2_uc010pqb.1_Missense_Mutation_p.T122I|SYT2_uc009xaf.2_5'UTR NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 122 Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) AGTCAGGCCTGTCTCTGCGTC 0.552 4 129 --- --- --- --- PASS PLXNA2 5362 broad.mit.edu 37 1 208390594 208390594 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:208390594A>G uc001hgz.2 - 2 1432 c.674T>C c.(673-675)CTC>CCC p.L225P PLXNA2_uc001hha.3_Missense_Mutation_p.L279P NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 225 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GATCTTGATGAGAGAGGAGAC 0.542 16 301 --- --- --- --- PASS INTS7 25896 broad.mit.edu 37 1 212149931 212149931 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:212149931G>T uc001hiw.1 - 12 1706 c.1601C>A c.(1600-1602)TCC>TAC p.S534Y INTS7_uc009xdb.1_Missense_Mutation_p.S534Y|INTS7_uc001hix.1_Missense_Mutation_p.S410Y|INTS7_uc001hiy.1_Missense_Mutation_p.S534Y|INTS7_uc010pta.1_Missense_Mutation_p.S485Y NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 534 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TACCATTCTGGAAGCCTGTCT 0.403 5 135 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216737588 216737588 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:216737588T>C uc001hkw.1 - 5 1001 c.835A>G c.(835-837)ATC>GTC p.I279V ESRRG_uc001hky.1_Missense_Mutation_p.I256V|ESRRG_uc009xdp.1_Missense_Mutation_p.I256V|ESRRG_uc001hkz.1_Missense_Mutation_p.I217V|ESRRG_uc010puc.1_Missense_Mutation_p.I256V|ESRRG_uc001hla.1_Missense_Mutation_p.I256V|ESRRG_uc001hlb.1_Missense_Mutation_p.I256V|ESRRG_uc010pud.1_Missense_Mutation_p.I87V|ESRRG_uc001hlc.1_Missense_Mutation_p.I256V|ESRRG_uc001hld.1_Missense_Mutation_p.I256V|ESRRG_uc001hkx.1_Missense_Mutation_p.I291V|ESRRG_uc009xdo.1_Missense_Mutation_p.I256V|ESRRG_uc001hle.1_Missense_Mutation_p.I256V NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 279 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CATCCAATGATAACCACCAAC 0.443 15 58 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232649736 232649736 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:232649736G>A uc001hvg.2 - 1 1508 c.1350C>T c.(1348-1350)TGC>TGT p.C450C NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 450 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTGCATTTGTGCAGTGAGAGC 0.527 33 224 --- --- --- --- PASS HEATR1 55127 broad.mit.edu 37 1 236736089 236736089 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:236736089G>C uc001hyd.1 - 25 3624 c.3499C>G c.(3499-3501)CCA>GCA p.P1167A HEATR1_uc009xgh.1_Missense_Mutation_p.P329A NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1167 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTATCTGGTGGCTCCAGTTCT 0.383 40 346 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236889288 236889288 + Silent SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:236889288T>C uc001hyf.2 + 5 708 c.504T>C c.(502-504)TAT>TAC p.Y168Y ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.Y168Y NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 168 CH 2.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CTGCTCCTTATAGAAATGTGA 0.483 25 179 --- --- --- --- PASS KIF26B 55083 broad.mit.edu 37 1 245850124 245850124 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:245850124C>G uc001ibf.1 + 12 4279 c.3839C>G c.(3838-3840)TCC>TGC p.S1280C KIF26B_uc001ibg.1_Missense_Mutation_p.S898C|KIF26B_uc001ibh.1_Missense_Mutation_p.S522C NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1280 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) TCCATCAGCTCCTGGCTGAGC 0.612 4 35 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248005145 248005145 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:248005145C>T uc001idn.1 - 1 54 c.54G>A c.(52-54)CAG>CAA p.Q18Q NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAAGAAGGTTCTGGAATCCTA 0.483 8 61 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37259800 37259800 + Missense_Mutation SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:37259800A>T uc002rpp.1 - 22 3429 c.3333T>A c.(3331-3333)AAT>AAA p.N1111K NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1111 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) TGTCCCCTGTATTTTTTGCCA 0.388 19 89 --- --- --- --- PASS DHX57 90957 broad.mit.edu 37 2 39025486 39025486 + Silent SNP T G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:39025486T>G uc002rrf.2 - 24 4215 c.4116A>C c.(4114-4116)GGA>GGC p.G1372G DHX57_uc002rrd.3_Silent_p.G711G|DHX57_uc002rre.2_Silent_p.G805G NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1372 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) TGATCCGGGATCCTCGAGGAC 0.453 6 134 --- --- --- --- PASS CHAC2 494143 broad.mit.edu 37 2 54001452 54001452 + Silent SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:54001452T>C uc002rxk.1 + 3 440 c.345T>C c.(343-345)AAT>AAC p.N115N ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron NM_001008708 NP_001008708 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator-like 2 115 0 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CATGTGATAATCCTGATTATC 0.368 5 127 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530036 80530036 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:80530036C>G uc002sok.1 - 2 1179 c.909G>C c.(907-909)TGG>TGC p.W303C CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 303 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TCAGGGACTTCCAAGAGTTGA 0.627 HNSCC(69;0.2) 12 46 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80874960 80874960 + Missense_Mutation SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:80874960A>T uc010ysh.1 + 18 2830 c.2825A>T c.(2824-2826)CAG>CTG p.Q942L CTNNA2_uc010yse.1_Missense_Mutation_p.Q894L|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q894L|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q849L|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q526L|CTNNA2_uc010ysj.1_Missense_Mutation_p.Q223L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 942 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TCGCCTGTACAGGCTTTAAGT 0.353 38 149 --- --- --- --- PASS SMYD1 150572 broad.mit.edu 37 2 88396294 88396294 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:88396294C>G uc002ssr.2 + 6 881 c.879C>G c.(877-879)GAC>GAG p.D293E SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 GGGTGAAAGACAACCCCAAGG 0.527 9 57 --- --- --- --- PASS TRIM43 129868 broad.mit.edu 37 2 96260870 96260870 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:96260870G>A uc002suv.2 + 3 620 c.484G>A c.(484-486)GGA>AGA p.G162R NM_138800 NP_620155 Q96BQ3 TRI43_HUMAN tripartite motif-containing 43 162 intracellular zinc ion binding ovary(1) 1 ATATGAGGAGGGAAGAACAGC 0.398 5 50 --- --- --- --- PASS SMPD4 55627 broad.mit.edu 37 2 130929950 130929950 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:130929950C>T uc002tqq.1 - 8 1268 c.748G>A c.(748-750)GGG>AGG p.G250R SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Missense_Mutation_p.G250R|SMPD4_uc002tqs.1_Missense_Mutation_p.G118R|SMPD4_uc002tqt.1_Missense_Mutation_p.G128R|SMPD4_uc010zaa.1_Missense_Mutation_p.G137R|SMPD4_uc010zab.1_Missense_Mutation_p.G177R|SMPD4_uc010zac.1_Intron|SMPD4_uc010zad.1_Intron NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 211 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) CTGGTCCCCCCTGGGCTGGAG 0.617 14 58 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136566975 136566975 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:136566975G>T uc002tuu.1 - 8 2953 c.2942C>A c.(2941-2943)TCT>TAT p.S981Y NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 981 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) GAAAATCCGAGACCAGGAGAT 0.498 16 101 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155098562 155098562 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:155098562C>G uc002tyr.3 + 5 898 c.331C>G c.(331-333)CCT>GCT p.P111A GALNT13_uc002tyt.3_Missense_Mutation_p.P111A|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 111 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AAAAGTCTACCCTGATGAACT 0.328 5 56 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155711690 155711690 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:155711690G>T uc002tyv.1 + 3 1566 c.1371G>T c.(1369-1371)AAG>AAT p.K457N KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 457 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) AAACCACCAAGATGTTATCTG 0.473 4 74 --- --- --- --- PASS RAPGEF4 11069 broad.mit.edu 37 2 173853511 173853511 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:173853511G>A uc002uhv.3 + 14 1505 c.1318G>A c.(1318-1320)GAA>AAA p.E440K RAPGEF4_uc002uhw.3_Missense_Mutation_p.E296K|RAPGEF4_uc010zec.1_Missense_Mutation_p.E287K|RAPGEF4_uc010zed.1_Missense_Mutation_p.E269K|RAPGEF4_uc010zee.1_Missense_Mutation_p.E287K|RAPGEF4_uc010fqo.2_Missense_Mutation_p.E269K|RAPGEF4_uc010zef.1_Missense_Mutation_p.E220K|RAPGEF4_uc010zeg.1_Missense_Mutation_p.E267K|RAPGEF4_uc010fqp.1_Missense_Mutation_p.E220K|RAPGEF4_uc010zeh.1_Missense_Mutation_p.E220K NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 440 cAMP 2. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) CGTCTTACGAGAAGATAACTG 0.483 17 77 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098804 178098804 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:178098804C>T uc002ulh.3 - 2 796 c.241G>A c.(241-243)GGT>AGT p.G81S NFE2L2_uc002ulg.3_Missense_Mutation_p.G65S|NFE2L2_uc010zfa.1_Missense_Mutation_p.G65S|NFE2L2_uc002uli.3_Missense_Mutation_p.G65S|NFE2L2_uc010fra.2_Missense_Mutation_p.G65S|NFE2L2_uc010frb.2_Missense_Mutation_p.G65S NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 81 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AGAAATTCACCTGTCTCTTCA 0.438 Mis NSCLC|HNSCC HNSCC(56;0.16) 23 79 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179427766 179427766 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:179427766G>A uc010zfg.1 - 275 75613 c.75389C>T c.(75388-75390)ACT>ATT p.T25130I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18825I|TTN_uc010zfi.1_Missense_Mutation_p.T18758I|TTN_uc010zfj.1_Missense_Mutation_p.T18633I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26057 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) ACCTTTGATAGTGACAAATAA 0.468 7 237 --- --- --- --- PASS ASNSD1 54529 broad.mit.edu 37 2 190535246 190535246 + Nonsense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:190535246C>T uc002uqt.2 + 6 2160 c.1726C>T c.(1726-1728)CGA>TGA p.R576* NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 576 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GACTTTACCCCGAGGAATTGG 0.413 19 88 --- --- --- --- PASS WDFY1 57590 broad.mit.edu 37 2 224759044 224759044 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:224759044C>G uc002vnq.2 - 8 789 c.738G>C c.(736-738)CAG>CAC p.Q246H NM_020830 NP_065881 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 246 WD 6. cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding lung(1) 1 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) AGCACAGCGACTGCACCTTGT 0.502 5 47 --- --- --- --- PASS NR1D2 9975 broad.mit.edu 37 3 24001171 24001171 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:24001171C>G uc003ccs.2 + 4 701 c.382C>G c.(382-384)CGG>GGG p.R128G NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R53G NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 128 Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 GGGTTTCTTTCGGAGAAGTAT 0.353 5 73 --- --- --- --- PASS EPM2AIP1 9852 broad.mit.edu 37 3 37033875 37033875 + Nonsense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:37033875G>A uc003cgk.2 - 1 921 c.694C>T c.(694-696)CAG>TAG p.Q232* MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 232 endoplasmic reticulum 0 CCTGCTGTCTGCAGGGACTCT 0.498 5 195 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62570895 62570895 + Silent SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:62570895G>T uc003dll.2 - 8 1902 c.1542C>A c.(1540-1542)GTC>GTA p.V514V CADPS_uc003dlk.1_Silent_p.V18V|CADPS_uc003dlm.2_Silent_p.V514V|CADPS_uc003dln.2_Silent_p.V514V NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 514 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TATCCATTCGGACAGCAAGTT 0.448 23 107 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62570972 62570972 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:62570972G>T uc003dll.2 - 8 1825 c.1465C>A c.(1465-1467)CCC>ACC p.P489T CADPS_uc003dlk.1_5'UTR|CADPS_uc003dlm.2_Missense_Mutation_p.P489T|CADPS_uc003dln.2_Missense_Mutation_p.P489T NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 489 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GACTGTTTGGGGCTGTTCGGG 0.398 25 104 --- --- --- --- PASS TMF1 7110 broad.mit.edu 37 3 69097101 69097101 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:69097101C>A uc003dnn.2 - 2 1002 c.755G>T c.(754-756)GGT>GTT p.G252V TMF1_uc011bfx.1_Missense_Mutation_p.G252V NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 252 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GGTAGAAGTACCTGATGAAAA 0.403 14 75 --- --- --- --- PASS OR5H2 79310 broad.mit.edu 37 3 98002546 98002546 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:98002546C>T uc003dsj.1 + 1 815 c.815C>T c.(814-816)GCA>GTA p.A272V NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 272 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 TCTCCACAAGCAGATGACCAA 0.378 11 79 --- --- --- --- PASS CLDND1 56650 broad.mit.edu 37 3 98235705 98235705 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:98235705G>A uc003dsp.2 - 5 1440 c.560C>T c.(559-561)TCA>TTA p.S187L CLDND1_uc003dso.2_Intron|CLDND1_uc003dsq.2_Missense_Mutation_p.S187L|CLDND1_uc003dss.2_Missense_Mutation_p.S187L|CLDND1_uc003dsr.2_Missense_Mutation_p.S92L|CLDND1_uc003dst.2_Missense_Mutation_p.S210L|CLDND1_uc003dsu.2_Missense_Mutation_p.S187L|CLDND1_uc003dsv.2_Missense_Mutation_p.S187L NM_019895 NP_063948 Q9NY35 CLDN1_HUMAN claudin domain containing 1 protein isoform a 187 Helical; (Potential). integral to membrane ovary(1) 1 ACAACTTACTGAGCCCAGTGT 0.443 14 68 --- --- --- --- PASS COL8A1 1295 broad.mit.edu 37 3 99509692 99509692 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:99509692C>A uc003dtg.1 + 4 411 c.166C>A c.(166-168)CAG>AAG p.Q56K COL8A1_uc003dth.1_Missense_Mutation_p.Q56K|COL8A1_uc003dti.1_Missense_Mutation_p.Q56K NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 56 Nonhelical region (NC2). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 GCCCCTGGGTCAGCAAGTACC 0.537 7 81 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128288 147128288 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:147128288G>C uc003ewe.2 + 1 1108 c.389G>C c.(388-390)GGC>GCC p.G130A NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 130 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGCTTCGGGGGCCCACACGGC 0.711 4 32 --- --- --- --- PASS MFSD1 64747 broad.mit.edu 37 3 158539385 158539385 + Splice_Site SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:158539385G>C uc003fcl.1 + 10 894 c.864_splice c.e10-1 p.K288_splice MFSD1_uc003fcm.1_Splice_Site|MFSD1_uc003fcn.1_Splice_Site_p.K191_splice|MFSD1_uc011bow.1_Splice_Site_p.K249_splice|MFSD1_uc011box.1_Splice_Site_p.K215_splice NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTTAATTTTAGAGTTTTCTTT 0.284 3 114 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180328168 180328168 + Silent SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:180328168T>C uc003fkk.2 + 12 2283 c.2151T>C c.(2149-2151)AAT>AAC p.N717N TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 717 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GAGAGGACAATTATGGGGAGG 0.358 8 147 --- --- --- --- PASS HTR3E 285242 broad.mit.edu 37 3 183824055 183824055 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr3:183824055C>G uc010hxq.2 + 8 1531 c.1065C>G c.(1063-1065)AAC>AAG p.N355K HTR3E_uc003fml.3_Missense_Mutation_p.N340K|HTR3E_uc003fmm.2_Missense_Mutation_p.N370K|HTR3E_uc010hxr.2_Missense_Mutation_p.N381K|HTR3E_uc003fmn.2_Missense_Mutation_p.N355K NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 355 Cytoplasmic (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TCCACTGCAACAGCCCGGGGA 0.637 6 70 --- --- --- --- PASS STK32B 55351 broad.mit.edu 37 4 5170131 5170131 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr4:5170131C>T uc003gih.1 + 3 278 c.214C>T c.(214-216)CTG>TTG p.L72L STK32B_uc010ida.1_Silent_p.L25L NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 72 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 TTTCCGGGAGCTGCAGATCAT 0.532 3 40 --- --- --- --- PASS NFXL1 152518 broad.mit.edu 37 4 47905311 47905311 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr4:47905311T>C uc010igh.2 - 5 723 c.546A>G c.(544-546)ATA>ATG p.I182M NFXL1_uc003gxp.2_Missense_Mutation_p.I182M|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.I182M NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 182 RING-type; atypical. integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GCATGTGAAATATACAGAAAC 0.343 12 54 --- --- --- --- PASS C4orf51 646603 broad.mit.edu 37 4 146651106 146651106 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr4:146651106G>T uc003ikk.2 + 5 490 c.490G>T c.(490-492)GTC>TTC p.V164F NM_001080531 NP_001074000 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 164 0 AGGGAAAGGTGTCCTAAAGCA 0.498 12 62 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24498560 24498560 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:24498560G>T uc003jgr.1 - 9 1794 c.1462C>A c.(1462-1464)CAG>AAG p.Q488K CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 488 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ACAGCAAACTGTGGGGCATTG 0.408 HNSCC(23;0.051) 14 83 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382481 41382481 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:41382481G>T uc003jmm.1 - 2 361 c.259C>A c.(259-261)CAG>AAG p.Q87K NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 87 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 GCTCCTAGCTGGCCAGTAAAA 0.448 12 78 --- --- --- --- PASS MRPS30 10884 broad.mit.edu 37 5 44815184 44815184 + Silent SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:44815184T>C uc003joh.2 + 5 1238 c.1200T>C c.(1198-1200)CCT>CCC p.P400P NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 400 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) AAAGTAAGCCTCTTTATGAAA 0.333 8 58 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66429345 66429345 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:66429345G>T uc003jut.1 + 16 1598 c.1530G>T c.(1528-1530)TTG>TTT p.L510F MAST4_uc003juu.1_Missense_Mutation_p.L520F|MAST4_uc011cra.1_Missense_Mutation_p.L493F|MAST4_uc003juv.2_Missense_Mutation_p.L505F|MAST4_uc003juw.2_Missense_Mutation_p.L505F NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 702 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CTCATAGCTTGTTGGTTACCT 0.408 6 150 --- --- --- --- PASS AP3B1 8546 broad.mit.edu 37 5 77521374 77521374 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:77521374T>C uc003kfj.2 - 6 720 c.595A>G c.(595-597)AAA>GAA p.K199E NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 199 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) ACTGTGCTTTTATCTTTCAGA 0.229 Hermansky-Pudlak_syndrome 5 30 --- --- --- --- PASS LOC153328 153328 broad.mit.edu 37 5 135188282 135188282 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:135188282C>A uc003laz.1 + 4 365 c.193C>A c.(193-195)CCC>ACC p.P65T LOC153328_uc003lba.2_Missense_Mutation_p.P65T Q6ZT89 S2548_HUMAN RecName: Full=Putative mitochondrial carrier protein FLJ44862; 65 Solcar 1.|Helical; Name=2; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CATGTCCTTCCCCCTCGCCAG 0.627 5 162 --- --- --- --- PASS PKD2L2 27039 broad.mit.edu 37 5 137241999 137241999 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:137241999C>T uc003lby.2 + 6 907 c.851C>T c.(850-852)TCC>TTC p.S284F PKD2L2_uc010jep.1_Missense_Mutation_p.S224F|PKD2L2_uc003lbw.1_Missense_Mutation_p.S284F|PKD2L2_uc003lbx.2_Missense_Mutation_p.S284F|PKD2L2_uc011cyi.1_5'UTR NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 284 Helical; (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTTATTGCTTCCTGTGAAATC 0.343 18 96 --- --- --- --- PASS ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139876442 139876442 + Missense_Mutation SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:139876442A>T uc003lfs.1 + 15 2707 c.2583A>T c.(2581-2583)AAA>AAT p.K861N ANKHD1_uc003lfq.1_Missense_Mutation_p.K880N|ANKHD1_uc003lfr.2_Missense_Mutation_p.K861N|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.K341N|ANKHD1_uc003lfv.1_Intron NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 861 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAAACCAAAGGTCAGAAAG 0.433 16 109 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140475898 140475898 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:140475898C>G uc003lil.2 + 1 1662 c.1524C>G c.(1522-1524)ATC>ATG p.I508M PCDHB2_uc003lim.1_Missense_Mutation_p.I169M NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 508 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTCTCCATCAACGCGGACA 0.701 24 142 --- --- --- --- PASS ARAP3 64411 broad.mit.edu 37 5 141039405 141039405 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:141039405C>T uc003llm.2 - 22 3286 c.3208G>A c.(3208-3210)GGG>AGG p.G1070R ARAP3_uc003lll.2_Missense_Mutation_p.G21R|ARAP3_uc011dbe.1_Missense_Mutation_p.G732R|ARAP3_uc003lln.2_Missense_Mutation_p.G901R NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1070 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 TCGTGCTCCCCTCGCCCATCC 0.567 4 35 --- --- --- --- PASS ITK 3702 broad.mit.edu 37 5 156638380 156638380 + Splice_Site SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:156638380G>T uc003lwo.1 + 3 407 c.325_splice c.e3+1 p.E109_splice NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell 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) CTTAAAGAAGGTAATTAAACT 0.493 T SYK peripheral T-cell lymphoma 18 98 --- --- --- --- PASS PROP1 5626 broad.mit.edu 37 5 177422872 177422872 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr5:177422872C>T uc003mif.1 - 1 372 c.63G>A c.(61-63)CTG>CTA p.L21L NM_006261 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 21 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCAGGCAACAGGTTGCTGC 0.657 9 77 --- --- --- --- PASS HIST1H2AH 85235 broad.mit.edu 37 6 27115231 27115231 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:27115231C>T uc003niz.2 + 1 324 c.324C>T c.(322-324)GTC>GTT p.V108V HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 108 nucleosome assembly nucleosome|nucleus DNA binding 0 AGGGTGGTGTCTTGCCCAATA 0.547 4 98 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57512544 57512544 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:57512544G>C uc003pdx.2 + 15 1459 c.1372G>C c.(1372-1374)GGT>CGT p.G458R NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 458 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TCTAAATGGTGGTAAAGACAT 0.388 5 222 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66200499 66200499 + Nonsense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:66200499C>A uc011dxu.1 - 5 1388 c.850G>T c.(850-852)GAG>TAG p.E284* EYS_uc003peq.2_Nonsense_Mutation_p.E284*|EYS_uc003per.1_Nonsense_Mutation_p.E284*|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 284 EGF-like 3. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 GAAAATTGCTCATCACATTCA 0.289 35 31 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75828897 75828897 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:75828897C>T uc003phs.2 - 46 7382 c.7216G>A c.(7216-7218)GCC>ACC p.A2406T COL12A1_uc003pht.2_Missense_Mutation_p.A1242T NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2406 VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 AACGTGAGGGCCTTGCCTACA 0.473 5 60 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90353767 90353767 + Missense_Mutation SNP A C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:90353767A>C uc003pnn.1 - 102 16864 c.16748T>G c.(16747-16749)CTC>CGC p.L5583R NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5583 VWFA. protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCACTGTCTGAGGGCATCGCT 0.463 3 108 --- --- --- --- PASS BEND3 57673 broad.mit.edu 37 6 107391975 107391975 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:107391975C>G uc003prs.2 - 5 1070 c.420G>C c.(418-420)GAG>GAC p.E140D NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 140 ovary(3) 3 GATTCTTCTTCTCCATGATCT 0.577 16 132 --- --- --- --- PASS MCM9 254394 broad.mit.edu 37 6 119232904 119232904 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:119232904G>C uc003pyh.2 - 7 1324 c.1061C>G c.(1060-1062)CCT>CGT p.P354R NM_153255 NP_694987 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 354 MCM.|ATP (Potential). DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity ovary(1) 1 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) CCCTGTGCCAGGATCCCCAAC 0.378 13 51 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143092297 143092297 + Silent SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:143092297T>C uc003qjd.2 - 5 4322 c.3579A>G c.(3577-3579)CAA>CAG p.Q1193Q NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GAATTGTCTCTTGATGTGGAA 0.433 5 210 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152671350 152671350 + Nonsense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr6:152671350C>A uc010kiw.2 - 72 12456 c.11854G>T c.(11854-11856)GAG>TAG p.E3952* SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Nonsense_Mutation_p.E3952*|SYNE1_uc010kja.1_Nonsense_Mutation_p.E657* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3952 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGCTTGTCTCCAGGAGGTCA 0.522 HNSCC(10;0.0054) 28 79 --- --- --- --- PASS EIF3B 8662 broad.mit.edu 37 7 2402714 2402714 + Silent SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:2402714G>T uc003slx.2 + 4 905 c.822G>T c.(820-822)ACG>ACT p.T274T EIF3B_uc003sly.2_Silent_p.T274T|EIF3B_uc003slz.1_Silent_p.T235T|EIF3B_uc003sma.2_Silent_p.T2T NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 274 Sufficient for interaction with EIF3E.|Sufficient for interaction with EIF3J. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GGTATATGACGATCAGTGACG 0.502 23 293 --- --- --- --- PASS CARD11 84433 broad.mit.edu 37 7 2956965 2956965 + Missense_Mutation SNP G A A rs142828146 TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:2956965G>A uc003smv.2 - 20 3066 c.2662C>T c.(2662-2664)CGT>TGT p.R888C NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 888 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.R881C(1) haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGCGAGAGACGGGGGCTGACC 0.557 Mis DLBCL 13 90 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4247876 4247876 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:4247876G>T uc003smx.2 + 37 5499 c.5360G>T c.(5359-5361)GGA>GTA p.G1787V SDK1_uc010kso.2_Missense_Mutation_p.G1043V|SDK1_uc003smy.2_Missense_Mutation_p.G274V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1787 Fibronectin type-III 11. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCCGGAGATGGACCTAAGAGT 0.617 4 60 --- --- --- --- PASS SNX13 23161 broad.mit.edu 37 7 17874389 17874389 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:17874389T>C uc003stw.1 - 14 1672 c.1459A>G c.(1459-1461)AGA>GGA p.R487G SNX13_uc003stv.2_Missense_Mutation_p.R487G|SNX13_uc010kuc.2_Missense_Mutation_p.R284G Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 487 RGS. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) AATACCTTTCTTTGAATGTCA 0.279 5 46 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31690783 31690783 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:31690783A>G uc003tcj.1 + 12 3604 c.2611A>G c.(2611-2613)AAG>GAG p.K871E CCDC129_uc011kad.1_Missense_Mutation_p.K881E|CCDC129_uc003tci.1_Missense_Mutation_p.K722E|CCDC129_uc011kae.1_Missense_Mutation_p.K897E|CCDC129_uc003tck.1_Missense_Mutation_p.K779E NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 871 0 GGAAGCCATGAAGACGATATG 0.478 3 130 --- --- --- --- PASS ELMO1 9844 broad.mit.edu 37 7 37264597 37264597 + Silent SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:37264597C>A uc003tfk.1 - 9 895 c.588G>T c.(586-588)TCG>TCT p.S196S ELMO1_uc011kbc.1_Silent_p.S100S|ELMO1_uc010kxg.1_Silent_p.S196S NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 196 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GCTGCAGGATCGAGATGTCTA 0.502 12 67 --- --- --- --- PASS AEBP1 165 broad.mit.edu 37 7 44150570 44150570 + Missense_Mutation SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:44150570T>A uc003tkb.2 + 13 1849 c.1544T>A c.(1543-1545)GTG>GAG p.V515E AEBP1_uc003tkc.3_Missense_Mutation_p.V58E|AEBP1_uc003tkd.2_5'Flank NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 515 Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCAGAGCCGGTGGTGGCTCGT 0.632 11 69 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48313943 48313943 + Silent SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:48313943T>C uc003toq.2 + 17 4705 c.4680T>C c.(4678-4680)GGT>GGC p.G1560G ABCA13_uc010kyr.2_Silent_p.G1063G NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1560 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTGTAAAAGGTATTTACTTTA 0.313 17 117 --- --- --- --- PASS CRCP 27297 broad.mit.edu 37 7 65617275 65617275 + Silent SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:65617275A>G uc003tus.2 + 6 523 c.378A>G c.(376-378)GCA>GCG p.A126A CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Silent_p.A119A|CRCP_uc003tut.2_Silent_p.A93A|CRCP_uc003tuu.2_Silent_p.A49A NM_014478 NP_055293 O75575 RPC9_HUMAN calcitonin gene-related peptide-receptor 126 acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter DNA polymerase III complex|nucleus|plasma membrane calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding 0 TTCTGCCTGCAGAGCCAGAGG 0.527 10 39 --- --- --- --- PASS TYW1 55253 broad.mit.edu 37 7 66463151 66463151 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:66463151G>T uc003tvn.2 + 2 253 c.104G>T c.(103-105)TGG>TTG p.W35L SBDS_uc003tvm.1_5'Flank|TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 35 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) ATTAGCCTTTGGATTTGTGTC 0.348 17 159 --- --- --- --- PASS TYW1 55253 broad.mit.edu 37 7 66463152 66463152 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:66463152G>T uc003tvn.2 + 2 254 c.105G>T c.(103-105)TGG>TGT p.W35C SBDS_uc003tvm.1_5'Flank|TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 35 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) TTAGCCTTTGGATTTGTGTCC 0.343 18 160 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81589146 81589146 + Splice_Site SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:81589146C>A uc003uhr.1 - 37 3223 c.2967_splice c.e37-1 p.R989_splice CACNA2D1_uc011kgy.1_Splice_Site_p.R201_splice NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATGAAAGATTCTGCAAAATAA 0.313 8 31 --- --- --- --- PASS MCM7 4176 broad.mit.edu 37 7 99694927 99694927 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:99694927G>A uc003usw.1 - 10 1708 c.1198C>T c.(1198-1200)CGC>TGC p.R400C MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 400 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TACTTACTGCGAGGCGCCAGT 0.473 5 45 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100682143 100682143 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:100682143C>T uc003uxp.1 + 3 7499 c.7446C>T c.(7444-7446)GAC>GAT p.D2482D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2482 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|39. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCTGTTGACACCAGCACAC 0.517 48 476 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103113314 103113314 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:103113314T>C uc003vca.2 - 66 10488 c.10328A>G c.(10327-10329)CAT>CGT p.H3443R RELN_uc010liz.2_Missense_Mutation_p.H3441R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3443 Arg-rich (basic). axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCTGAGCCCATGTTGTCGTGA 0.383 13 93 --- --- --- --- PASS C7orf58 79974 broad.mit.edu 37 7 120629925 120629925 + Splice_Site SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:120629925G>T uc003vjq.3 + 2 696 c.249_splice c.e2+1 p.K83_splice C7orf58_uc003vjr.1_Splice_Site_p.K83_splice|C7orf58_uc003vjs.3_Splice_Site_p.K83_splice NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AACCAGAAAGGTAAGACTCTC 0.428 5 177 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121684484 121684484 + Nonsense_Mutation SNP T G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:121684484T>G uc003vjy.2 + 23 6341 c.5946T>G c.(5944-5946)TAT>TAG p.Y1982* PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.Y1115*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.Y572* NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1982 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. 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 AGGAGCAATATGTCTTCATTC 0.388 19 74 --- --- --- --- PASS GPR37 2861 broad.mit.edu 37 7 124386948 124386948 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:124386948G>A uc003vli.2 - 2 2124 c.1473C>T c.(1471-1473)AAC>AAT p.N491N NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 491 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 CTACTGTACAGTTCATCTGAC 0.448 10 108 --- --- --- --- PASS CTAGE6 340307 broad.mit.edu 37 7 143453398 143453398 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:143453398G>C uc003wdk.3 - 1 1446 c.1354C>G c.(1354-1356)CAA>GAA p.Q452E uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron NM_178561 NP_848656 Q86UF2 CTGE6_HUMAN CTAGE family, member 6 452 Potential. integral to membrane 0 Melanoma(164;0.0903) ACCTGCTTTTGATAAAAATGA 0.413 4 198 --- --- --- --- PASS OR2A5 393046 broad.mit.edu 37 7 143748079 143748079 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:143748079C>G uc011ktw.1 + 1 585 c.585C>G c.(583-585)AAC>AAG p.N195K NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) CCTGGCTCAACCAGGTGGTCA 0.572 27 238 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149500666 149500666 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:149500666C>T uc010lpk.2 + 55 8067 c.8067C>T c.(8065-8067)TCC>TCT p.S2689S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2689 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGGGGTGTCCTTCCTCCTGG 0.682 3 21 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 152007083 152007083 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr7:152007083C>A uc003wla.2 - 6 1036 c.817G>T c.(817-819)GTG>TTG p.V273L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 273 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCTTTGTCCACGTTCACTAAC 0.393 N medulloblastoma 6 81 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3266999 3266999 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:3266999C>A uc011kwk.1 - 13 2083 c.1693G>T c.(1693-1695)GTT>TTT p.V565F CSMD1_uc011kwj.1_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 565 Extracellular (Potential).|Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGGTGATAACTCTCTCCCCC 0.552 4 24 --- --- --- --- PASS SGCZ 137868 broad.mit.edu 37 8 13959960 13959960 + Silent SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:13959960G>T uc003wwq.2 - 7 1329 c.669C>A c.(667-669)GTC>GTA p.V223V SGCZ_uc010lss.2_Silent_p.V176V NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 210 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CACTCACCTGGACCCCACGGG 0.478 5 44 --- --- --- --- PASS BIN3 55909 broad.mit.edu 37 8 22481752 22481752 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:22481752G>A uc003xcl.2 - 7 560 c.463C>T c.(463-465)CTG>TTG p.L155L BIN3_uc003xck.2_Silent_p.L107L|BIN3_uc010ltw.2_Silent_p.L101L NM_018688 NP_061158 Q9NQY0 BIN3_HUMAN bridging integrator 3 155 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity 0 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) AGCTTGGCCAGCACTGGCCCC 0.622 3 45 --- --- --- --- PASS DPYSL2 1808 broad.mit.edu 37 8 26510758 26510758 + Missense_Mutation SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:26510758T>A uc003xfb.1 + 13 1822 c.1472T>A c.(1471-1473)CTG>CAG p.L491Q DPYSL2_uc003xfa.2_Missense_Mutation_p.L596Q|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.L455Q NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 491 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) CTGGCTGAGCTGAGAGGGGTT 0.602 16 176 --- --- --- --- PASS TRIM55 84675 broad.mit.edu 37 8 67047300 67047300 + Silent SNP C T T rs150385092 by1000genomes TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:67047300C>T uc003xvv.2 + 3 643 c.417C>T c.(415-417)TGC>TGT p.C139C TRIM55_uc003xvu.2_Silent_p.C139C|TRIM55_uc003xvw.2_Silent_p.C139C|TRIM55_uc003xvx.2_Silent_p.C139C NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 139 B box-type. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GTCTGAACTGCGAAGTACCCA 0.527 4 109 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767552 77767552 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:77767552G>T uc003yav.2 + 10 8647 c.8260G>T c.(8260-8262)GAT>TAT p.D2754Y ZFHX4_uc003yau.1_Missense_Mutation_p.D2799Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2754Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2754 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATAAAACCGATTTTGATGA 0.443 HNSCC(33;0.089) 6 50 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113326816 113326816 + Missense_Mutation SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:113326816T>A uc003ynu.2 - 48 7550 c.7391A>T c.(7390-7392)GAT>GTT p.D2464V CSMD3_uc003yns.2_Missense_Mutation_p.D1666V|CSMD3_uc003ynt.2_Missense_Mutation_p.D2424V|CSMD3_uc011lhx.1_Missense_Mutation_p.D2360V|CSMD3_uc003ynw.1_Missense_Mutation_p.D175V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2464 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCCAGTAGAATCTAGCCGTAA 0.388 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 49 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113702181 113702181 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:113702181G>T uc003ynu.2 - 14 2230 c.2071C>A c.(2071-2073)CAG>AAG p.Q691K CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.Q651K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q587K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 691 Extracellular (Potential).|Sushi 3. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AACCCAAACTGGCATTCAAAC 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 257 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164043 139164043 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr8:139164043C>A uc003yuy.2 - 13 2846 c.2675G>T c.(2674-2676)AGG>ATG p.R892M FAM135B_uc003yux.2_Missense_Mutation_p.R793M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R454M|FAM135B_uc003yvb.2_Missense_Mutation_p.R454M NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 892 p.R892G(1) ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGATCTGGTCCTGGGGTTTTC 0.473 HNSCC(54;0.14) 11 159 --- --- --- --- PASS GDA 9615 broad.mit.edu 37 9 74838057 74838057 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr9:74838057G>A uc004aiq.2 + 7 811 c.628G>A c.(628-630)GTG>ATG p.V210M GDA_uc011lse.1_Missense_Mutation_p.V136M|GDA_uc011lsf.1_Missense_Mutation_p.V136M|GDA_uc004air.2_Missense_Mutation_p.V210M|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Missense_Mutation_p.V136M NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 210 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GAAGCCCATAGTGACACCACG 0.308 36 136 --- --- --- --- PASS C9orf170 401535 broad.mit.edu 37 9 89771592 89771592 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr9:89771592C>G uc004apa.1 + 2 360 c.273C>G c.(271-273)AAC>AAG p.N91K NM_001001709 NP_001001709 A2RU37 CI170_HUMAN hypothetical protein LOC401535 91 0 attggaaaaacctCTTGATAG 0.184 6 32 --- --- --- --- PASS CTSL2 1515 broad.mit.edu 37 9 99797855 99797855 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr9:99797855C>T uc004awt.2 - 6 939 c.742G>A c.(742-744)GTT>ATT p.V248I CTSL2_uc010msi.2_Missense_Mutation_p.V248I|CTSL2_uc004awu.2_Missense_Mutation_p.V193I|CTSL2_uc010msj.1_Missense_Mutation_p.V193I NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein 248 lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) TCCATAGCAACGGAGATGGGC 0.468 10 51 --- --- --- --- PASS ZBTB34 403341 broad.mit.edu 37 9 129642902 129642902 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr9:129642902C>T uc004bqm.3 + 2 1309 c.1212C>T c.(1210-1212)TTC>TTT p.F404F NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 404 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTGCAAGTTCTGTGGGAAGA 0.493 9 34 --- --- --- --- PASS SPTAN1 6709 broad.mit.edu 37 9 131339714 131339714 + Missense_Mutation SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr9:131339714A>T uc004bvl.3 + 8 1127 c.1014A>T c.(1012-1014)GAA>GAT p.E338D SPTAN1_uc011mbg.1_Missense_Mutation_p.E338D|SPTAN1_uc011mbh.1_Missense_Mutation_p.E350D|SPTAN1_uc004bvm.3_Missense_Mutation_p.E338D|SPTAN1_uc004bvn.3_Missense_Mutation_p.E338D NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 338 Spectrin 4. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AGCGAGAGGAACTGATTACAA 0.517 25 96 --- --- --- --- PASS DIP2C 22982 broad.mit.edu 37 10 468780 468780 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr10:468780C>A uc001ifp.2 - 5 678 c.588G>T c.(586-588)ATG>ATT p.M196I DIP2C_uc009xhk.1_Missense_Mutation_p.W198L NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 196 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GGGTCTGAGCCATGACGTCCG 0.612 13 68 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15600082 15600082 + Silent SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr10:15600082T>C uc001ioc.1 - 26 2757 c.2757A>G c.(2755-2757)GCA>GCG p.A919A ITGA8_uc010qcb.1_Silent_p.A904A NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 919 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CCAGTATTTTTGCAGGGCTCT 0.448 7 160 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27306536 27306536 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr10:27306536C>G uc001ith.2 - 30 4570 c.4398G>C c.(4396-4398)AGG>AGC p.R1466S ANKRD26_uc001itg.2_Missense_Mutation_p.R1153S|ANKRD26_uc009xku.1_Missense_Mutation_p.R1467S NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1466 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 CTACCATATTCCTTTCTATAT 0.308 5 79 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27366456 27366456 + Silent SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr10:27366456A>G uc001ith.2 - 9 1060 c.888T>C c.(886-888)TAT>TAC p.Y296Y ANKRD26_uc001itg.2_Silent_p.Y15Y|ANKRD26_uc009xku.1_Silent_p.Y296Y NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 296 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TCACAGTGCCATATGTTGCTT 0.323 6 81 --- --- --- --- PASS RBP4 5950 broad.mit.edu 37 10 95351849 95351849 + Nonsense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr10:95351849C>A uc001kit.2 - 6 673 c.589G>T c.(589-591)GAA>TAA p.E197* NM_006744 NP_006735 P02753 RET4_HUMAN retinol-binding protein 4, plasma precursor 197 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding 0 Colorectal(252;0.122) Vitamin A(DB00162) AGGTTTCTTTCTGATCTGCCA 0.363 7 56 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105201613 105201613 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr10:105201613C>T uc001kwy.1 + 31 4675 c.4588C>T c.(4588-4590)CGG>TGG p.R1530W NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1530 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGAAGCGCCCCGGCTGCAGCT 0.607 3 53 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1281021 1281021 + Nonsense_Mutation SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:1281021T>A uc009ycr.1 + 67 17886 c.17760T>A c.(17758-17760)TGT>TGA p.C5920* MUC5B_uc001ltb.2_Nonsense_Mutation_p.C5586* NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5583 VWFC 3. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGCAGTGCTGTGGGGAGTGCG 0.667 21 75 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26556100 26556100 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:26556100T>C uc001mqt.3 + 9 1112 c.967T>C c.(967-969)TCA>CCA p.S323P ANO3_uc010rdr.1_Missense_Mutation_p.S307P|ANO3_uc010rds.1_Missense_Mutation_p.S162P|ANO3_uc010rdt.1_Missense_Mutation_p.S177P NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 323 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAATGGAATATCAAAAGTGGG 0.323 15 81 --- --- --- --- PASS NUP160 23279 broad.mit.edu 37 11 47808037 47808037 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:47808037C>A uc001ngm.2 - 32 3901 c.3816G>T c.(3814-3816)CAG>CAT p.Q1272H NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 1272 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 CAGATGAGAGCTGATTGGCTG 0.463 4 136 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55405936 55405936 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:55405936G>T uc010rij.1 + 1 103 c.103G>T c.(103-105)GCT>TCT p.A35S NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TTGCTACATTGCTATTTGGAT 0.368 4 105 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406141 55406141 + Missense_Mutation SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:55406141A>T uc010rij.1 + 1 308 c.308A>T c.(307-309)CAT>CTT p.H103L NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TTTACCACCCATTTTTTTGGA 0.433 4 80 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579077 55579077 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:55579077G>C uc001nhw.1 + 1 135 c.135G>C c.(133-135)ATG>ATC p.M45I NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) ACCTGGGCATGATTGCACTGA 0.488 51 250 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587917 55587917 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:55587917C>A uc010rin.1 + 1 812 c.812C>A c.(811-813)ACA>AAA p.T271K NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TCCAGGCACACAGTCAAAGTG 0.507 19 96 --- --- --- --- PASS SERPING1 710 broad.mit.edu 37 11 57379296 57379296 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:57379296T>C uc001nkp.1 + 7 1327 c.1136T>C c.(1135-1137)TTC>TCC p.F379S SERPING1_uc001nkq.1_Intron|SERPING1_uc010rju.1_Missense_Mutation_p.F327S|SERPING1_uc010rjv.1_Missense_Mutation_p.F384S|SERPING1_uc001nkr.1_Missense_Mutation_p.F379S|SERPING1_uc009ymi.1_Missense_Mutation_p.F388S|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Missense_Mutation_p.F70S NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 379 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 CCTTCTGTTTTCAAGGCCATC 0.512 Hereditary_Angioedema 5 159 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58207460 58207460 + Silent SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:58207460G>T uc010rkh.1 - 1 165 c.165C>A c.(163-165)ACC>ACA p.T55T NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGTACATGGGGGTGTGGAGAC 0.483 10 49 --- --- --- --- PASS MS4A6E 245802 broad.mit.edu 37 11 60107344 60107344 + Silent SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:60107344T>A uc001npd.2 + 3 374 c.360T>A c.(358-360)ACT>ACA p.T120T NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 120 Extracellular (Potential). integral to membrane receptor activity 0 TTCAGGGAACTCTGTCTCTGA 0.478 6 265 --- --- --- --- PASS MS4A12 54860 broad.mit.edu 37 11 60269474 60269474 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:60269474C>A uc001npr.2 + 4 490 c.433C>A c.(433-435)CTC>ATC p.L145I NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 145 Cytoplasmic (Potential). integral to membrane receptor activity 0 CTCTGGCTCTCTCTCTGTGTC 0.393 8 184 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82881007 82881007 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:82881007G>T uc001ozx.3 + 8 3975 c.3630G>T c.(3628-3630)ATG>ATT p.M1210I PCF11_uc010rsu.1_Missense_Mutation_p.M1341I NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 1210 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 CTGCTCCAATGACAGTAGGAA 0.348 4 24 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85445732 85445732 + Nonsense_Mutation SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:85445732T>A uc010rth.1 - 6 913 c.637A>T c.(637-639)AAG>TAG p.K213* SYTL2_uc010rtg.1_Nonsense_Mutation_p.K214*|SYTL2_uc010rti.1_Nonsense_Mutation_p.K213*|SYTL2_uc010rtj.1_Nonsense_Mutation_p.K165*|SYTL2_uc001pbf.3_Nonsense_Mutation_p.K213*|SYTL2_uc010rtf.1_Nonsense_Mutation_p.K71* NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 213 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTCTCTAACTTTTGGATTGAA 0.373 9 89 --- --- --- --- PASS PRSS23 11098 broad.mit.edu 37 11 86519238 86519238 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:86519238A>G uc001pcb.2 + 2 769 c.553A>G c.(553-555)AAA>GAA p.K185E PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.K153E NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 185 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AACCTATGTGAAAGGAACCCA 0.537 6 64 --- --- --- --- PASS NOX4 50507 broad.mit.edu 37 11 89075240 89075240 + Splice_Site SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:89075240A>G uc001pct.2 - 14 1576 c.1337_splice c.e14+1 p.L446_splice NOX4_uc009yvr.2_Splice_Site_p.L421_splice|NOX4_uc001pcu.2_Splice_Site_p.L372_splice|NOX4_uc001pcw.2_Splice_Site_p.L139_splice|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Intron|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.L280_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Intron|NOX4_uc009yvq.2_Splice_Site_p.L422_splice NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AAAATGACATACAACAGGGTG 0.358 5 59 --- --- --- --- PASS ATM 472 broad.mit.edu 37 11 108235917 108235917 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:108235917G>T uc001pkb.1 + 62 9344 c.8959G>T c.(8959-8961)GAT>TAT p.D2987Y ATM_uc009yxr.1_Missense_Mutation_p.D2987Y|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.D1639Y NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2987 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCTGAATGCAGATGACCAAGA 0.403 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 7 63 --- --- --- --- PASS VWA5A 4013 broad.mit.edu 37 11 123993736 123993736 + Missense_Mutation SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:123993736A>T uc001pzu.2 + 8 1039 c.830A>T c.(829-831)AAT>ATT p.N277I VWA5A_uc001pzr.2_Missense_Mutation_p.N277I|VWA5A_uc001pzs.2_Missense_Mutation_p.N277I|VWA5A_uc010sae.1_Missense_Mutation_p.N293I|VWA5A_uc001pzt.2_Missense_Mutation_p.N277I NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 277 upper_aerodigestive_tract(1)|ovary(1) 2 CAACCATCAAATACCTGTGGA 0.463 4 72 --- --- --- --- PASS HEPACAM 220296 broad.mit.edu 37 11 124792701 124792701 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:124792701G>T uc001qbk.2 - 5 1223 c.817C>A c.(817-819)CTA>ATA p.L273I HEPACAM_uc009zbj.2_5'UTR|HEPACAM_uc001qbl.1_Missense_Mutation_p.L273I NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN hepatocyte cell adhesion molecule precursor 273 Cytoplasmic (Potential). cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane pancreas(1) 1 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGCTTTTCTAGCTTCTTCTGT 0.483 6 156 --- --- --- --- PASS ST3GAL4 6484 broad.mit.edu 37 11 126277527 126277527 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:126277527G>C uc001qds.2 + 6 558 c.339G>C c.(337-339)CAG>CAC p.Q113H ST3GAL4_uc001qdt.2_Missense_Mutation_p.Q109H|ST3GAL4_uc009zcc.2_Intron|ST3GAL4_uc009zcd.2_Missense_Mutation_p.Q102H|ST3GAL4_uc001qdu.2_Missense_Mutation_p.Q109H|ST3GAL4_uc001qdv.2_Missense_Mutation_p.Q113H|ST3GAL4_uc009zce.2_Missense_Mutation_p.Q109H|ST3GAL4_uc001qdw.2_Missense_Mutation_p.Q102H|ST3GAL4_uc001qdx.1_Missense_Mutation_p.Q102H|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'UTR NM_006278 NP_006269 Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 113 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) AGAACATCCAGAGGTAAGGCG 0.607 24 151 --- --- --- --- PASS ARHGAP32 9743 broad.mit.edu 37 11 128844054 128844054 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr11:128844054T>C uc009zcp.2 - 20 2996 c.2996A>G c.(2995-2997)CAG>CGG p.Q999R ARHGAP32_uc009zcq.1_Missense_Mutation_p.Q959R|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.Q650R NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 999 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 AGCCTTACTCTGACTGCTTGA 0.478 9 124 --- --- --- --- PASS ATN1 1822 broad.mit.edu 37 12 7050104 7050104 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:7050104C>T uc001qrw.1 + 8 3513 c.3276C>T c.(3274-3276)ATC>ATT p.I1092I ATN1_uc001qrx.1_Silent_p.I1092I|C12orf57_uc009zfj.1_5'Flank NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 1092 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TTACCCGGATCCCCTACCCAG 0.592 10 74 --- --- --- --- PASS AICDA 57379 broad.mit.edu 37 12 8757847 8757847 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:8757847G>C uc001qur.2 - 3 470 c.391C>G c.(391-393)CGC>GGC p.R131G AICDA_uc001qup.1_Missense_Mutation_p.R126G|AICDA_uc001quq.1_Missense_Mutation_p.R126G|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 131 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) ACCCCGGCGCGGTGCAGCCGC 0.642 Immune_Deficiency_with_Hyper-IgM 12 36 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13761674 13761674 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:13761674C>T uc001rbt.2 - 9 2052 c.1873G>A c.(1873-1875)GGG>AGG p.G625R NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 625 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAGGTGGTCCCCTTTGGGTTC 0.532 19 91 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13761675 13761675 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:13761675C>T uc001rbt.2 - 9 2051 c.1872G>A c.(1870-1872)AAG>AAA p.K624K NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 624 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGGTGGTCCCCTTTGGGTTCT 0.532 19 93 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21032524 21032524 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:21032524C>T uc001rek.2 + 10 1416 c.1290C>T c.(1288-1290)TGC>TGT p.C430C SLCO1B3_uc001rel.2_Silent_p.C430C|SLCO1B3_uc010sil.1_Silent_p.C430C|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.C255C NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 430 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) CTCTAATCTGCGAAAGCAAAT 0.299 4 80 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40704330 40704330 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:40704330A>G uc001rmg.3 + 31 4536 c.4415A>G c.(4414-4416)GAA>GGA p.E1472G LRRK2_uc009zjw.2_Missense_Mutation_p.E310G|LRRK2_uc001rmi.2_Missense_Mutation_p.E305G NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1472 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATCACCAAGGAACTCCTGAAT 0.473 37 201 --- --- --- --- PASS KRT1 3848 broad.mit.edu 37 12 53074075 53074075 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:53074075C>A uc001sau.1 - 1 117 c.58G>T c.(58-60)GGC>TGC p.G20C KRT1_uc001sav.1_Missense_Mutation_p.G20C NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 20 Head.|Gly/Phe/Ser-rich. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 CCAGCAGAGCCAGAGCTGAAG 0.512 17 87 --- --- --- --- PASS ARHGAP9 64333 broad.mit.edu 37 12 57872974 57872974 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:57872974G>A uc001sod.2 - 5 622 c.429C>T c.(427-429)ACC>ACT p.T143T ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Silent_p.T72T|ARHGAP9_uc001soc.2_Silent_p.T72T|ARHGAP9_uc001soe.1_Silent_p.T151T|ARHGAP9_uc010sro.1_Silent_p.T72T NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 72 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) TGGGTCGAGAGGTGGAGGGAG 0.562 4 109 --- --- --- --- PASS SLC26A10 65012 broad.mit.edu 37 12 58014145 58014145 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:58014145G>A uc001spe.2 + 1 453 c.142G>A c.(142-144)GCC>ACC p.A48T uc001spc.2_5'Flank|SLC26A10_uc001spf.2_RNA NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 48 Helical; (Potential). integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) TGCTCTCCTGGCCTCCGTGCC 0.562 106 678 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81839428 81839428 + Silent SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:81839428C>A uc001szo.1 - 6 638 c.477G>T c.(475-477)CGG>CGT p.R159R PPFIA2_uc010sue.1_Silent_p.R59R|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 85 ovary(3)|lung(2)|pancreas(1) 6 ACTGGGCTTGCCGTTTTACCA 0.428 8 67 --- --- --- --- PASS TMTC2 160335 broad.mit.edu 37 12 83290168 83290168 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:83290168C>G uc001szt.2 + 3 1658 c.1226C>G c.(1225-1227)ACG>AGG p.T409R TMTC2_uc001szr.1_Missense_Mutation_p.T409R|TMTC2_uc001szs.1_Missense_Mutation_p.T409R|TMTC2_uc010suk.1_Missense_Mutation_p.T164R NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 409 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 GTTCCTGCCACGAACCTGTTT 0.418 4 183 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101555837 101555837 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:101555837G>T uc001thz.3 - 13 1935 c.1545C>A c.(1543-1545)AAC>AAA p.N515K NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 515 Extracellular (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 AAGAATACCAGTTATCCATCA 0.378 19 199 --- --- --- --- PASS PAH 5053 broad.mit.edu 37 12 103237440 103237440 + Missense_Mutation SNP C A A rs62516103 TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:103237440C>A uc001tjq.1 - 12 1655 c.1183G>T c.(1183-1185)GCC>TCC p.A395S NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 395 A -> P (in PKU; haplotype 1).|A -> G (in PKU). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TTCTCCTTGGCATCATTAAAA 0.542 3 40 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104031865 104031865 + Missense_Mutation SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:104031865A>T uc001tjw.2 + 8 967 c.781A>T c.(781-783)AGT>TGT p.S261C NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 261 Extracellular (Potential).|EGF-like 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AAATCGGCACAGTTGTACATG 0.493 13 154 --- --- --- --- PASS UBC 7316 broad.mit.edu 37 12 125397618 125397618 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:125397618T>C uc001ugs.3 - 2 1148 c.700A>G c.(700-702)AAG>GAG p.K234E UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.K234E|UBC_uc001ugt.2_Missense_Mutation_p.K234E|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.K82E NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 234 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GTGAGTGTCTTCACGAAGATT 0.512 5 232 --- --- --- --- PASS DHX37 57647 broad.mit.edu 37 12 125473469 125473469 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:125473469G>T uc001ugy.2 - 1 199 c.100C>A c.(100-102)CTG>ATG p.L34M NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 34 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TTACCCTCCAGTTCCAGCTGC 0.706 4 27 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126135332 126135332 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr12:126135332G>A uc001uhe.1 + 7 1740 c.1732G>A c.(1732-1734)GCC>ACC p.A578T TMEM132B_uc001uhf.1_Missense_Mutation_p.A90T NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 578 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) CCAGTTTGTGGCCGAGTCACC 0.592 7 64 --- --- --- --- PASS POU4F1 5457 broad.mit.edu 37 13 79175769 79175769 + Silent SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr13:79175769A>G uc001vkv.2 - 2 1275 c.1041T>C c.(1039-1041)CCT>CCC p.P347P uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 347 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TGAAGAGCTCAGGCTTGTTCA 0.662 3 37 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101890232 101890232 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr13:101890232C>A uc001vox.1 - 12 1497 c.1308G>T c.(1306-1308)AAG>AAT p.K436N NALCN_uc001voy.2_Missense_Mutation_p.K151N|NALCN_uc001voz.2_Missense_Mutation_p.K436N|NALCN_uc001vpa.2_Missense_Mutation_p.K436N NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 436 Helical; Name=S2 of repeat II; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AACACCATATCTTCAGAAGTG 0.318 12 164 --- --- --- --- PASS KIAA0586 9786 broad.mit.edu 37 14 58896152 58896152 + Splice_Site SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr14:58896152G>T uc001xdv.3 + 2 543 c.270_splice c.e2+1 p.S90_splice KIAA0586_uc010trr.1_Splice_Site_p.S90_splice|KIAA0586_uc001xdt.3_Splice_Site_p.S5_splice|KIAA0586_uc001xdu.3_Splice_Site_p.S75_splice|KIAA0586_uc010trs.1_Splice_Site_p.S5_splice|TIMM9_uc010aph.2_5'Flank|TIMM9_uc001xds.2_5'Flank|TIMM9_uc010api.2_5'Flank NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein ovary(1) 1 GTCAGAAAGTGTAAGCAAAAG 0.313 4 131 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 62948154 62948154 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr15:62948154G>T uc002alb.3 + 5 529 c.529G>T c.(529-531)GAT>TAT p.D177Y NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 177 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AAATTGGCTGGATCACAGCCG 0.378 12 46 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 64021766 64021766 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr15:64021766T>C uc002amp.2 - 15 3099 c.2951A>G c.(2950-2952)CAT>CGT p.H984R HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 984 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TTCATGAAGATGAGCAGGCTG 0.368 13 146 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65489813 65489813 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr15:65489813C>A uc002aon.2 - 9 2992 c.2811G>T c.(2809-2811)TGG>TGT p.W937C NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 937 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 AGTCTTCAGTCCAGCTCATAG 0.532 8 122 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65489814 65489814 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr15:65489814C>A uc002aon.2 - 9 2991 c.2810G>T c.(2809-2811)TGG>TTG p.W937L NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 937 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 GTCTTCAGTCCAGCTCATAGG 0.532 10 124 --- --- --- --- PASS CD276 80381 broad.mit.edu 37 15 73996674 73996674 + Silent SNP G T T rs143706609 byFrequency TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr15:73996674G>T uc002avv.1 + 6 1464 c.1230G>T c.(1228-1230)ACG>ACT p.T410T CD276_uc010bjd.1_Silent_p.T264T|CD276_uc002avu.1_Silent_p.T410T|CD276_uc002avw.1_Silent_p.T192T|CD276_uc010ulb.1_Silent_p.T356T|CD276_uc002avx.2_RNA NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN CD276 antigen isoform a 410 Extracellular (Potential).|Ig-like C2-type 2. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding skin(1) 1 ACGTGACCACGTCGCAGATGG 0.642 OREG0023265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 55 --- --- --- --- PASS CCDC33 80125 broad.mit.edu 37 15 74565187 74565187 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr15:74565187G>T uc002axo.2 + 7 1108 c.714G>T c.(712-714)ATG>ATT p.M238I CCDC33_uc002axp.2_Missense_Mutation_p.M60I NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 441 protein binding ovary(3)|skin(2) 5 TCCCGTCCATGATGAACTTTG 0.602 27 87 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90347784 90347784 + Missense_Mutation SNP G A A rs8179199 by1000genomes TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr15:90347784G>A uc002bop.3 - 5 1254 c.962C>T c.(961-963)ACG>ATG p.T321M NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 321 Extracellular.|Interaction with HCoV-229E.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GATGGGGCCCGTCACGTTCAG 0.602 12 119 --- --- --- --- PASS ASPHD1 253982 broad.mit.edu 37 16 29917137 29917137 + Silent SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr16:29917137C>A uc002dut.2 + 3 1238 c.1092C>A c.(1090-1092)GTC>GTA p.V364V uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA|KCTD13_uc010vee.1_Intron NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 364 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity 0 CTCGAGTGGTCTTCATCGTGG 0.602 4 71 --- --- --- --- PASS MYST1 84148 broad.mit.edu 37 16 31141397 31141397 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr16:31141397C>T uc002eay.2 + 7 849 c.831C>T c.(829-831)TAC>TAT p.Y277Y MYST1_uc002eax.2_Silent_p.Y277Y|MYST1_uc002eaz.2_Silent_p.Y119Y|MYST1_uc002eba.2_Silent_p.Y61Y|MYST1_uc002ebb.2_RNA NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN MYST histone acetyltransferase 1 isoform 1 277 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding ovary(1) 1 AGACACTGTACTTTGACGTGG 0.557 10 308 --- --- --- --- PASS PHKB 5257 broad.mit.edu 37 16 47695636 47695636 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr16:47695636A>G uc002eev.3 + 23 2255 c.2203A>G c.(2203-2205)AGT>GGT p.S735G PHKB_uc002eeu.3_Missense_Mutation_p.S728G NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 735 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TCAGGATTGCAGTTGTCTGGC 0.448 19 85 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61747850 61747850 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr16:61747850C>G uc002eog.1 - 10 1801 c.1549G>C c.(1549-1551)GTT>CTT p.V517L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 517 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATGGCGCTAACAGTTTGAATG 0.393 11 75 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72828130 72828130 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr16:72828130G>A uc002fck.2 - 9 9124 c.8451C>T c.(8449-8451)TCC>TCT p.S2817S ZFHX3_uc002fcl.2_Silent_p.S1903S NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2817 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CTGAGGACATGGAGGGGCTTT 0.463 4 130 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10315735 10315735 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr17:10315735C>A uc002gmm.2 - 14 1463 c.1368G>T c.(1366-1368)AGG>AGT p.R456S uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 456 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TGAAGTACTGCCTGGGCTGCT 0.483 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 35 206 --- --- --- --- PASS KAT2A 2648 broad.mit.edu 37 17 40269416 40269416 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr17:40269416C>T uc002hyx.2 - 10 1687 c.1627G>A c.(1627-1629)GTC>ATC p.V543I NM_021078 NP_066564 Q92830 KAT2A_HUMAN general control of amino acid synthesis 5-like 543 N-acetyltransferase. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity upper_aerodigestive_tract(1)|lung(1) 2 GGGTCAAAGACGAGGCGGGCG 0.637 6 64 --- --- --- --- PASS DCAKD 79877 broad.mit.edu 37 17 43111557 43111557 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr17:43111557C>A uc002ihx.2 - 2 570 c.314G>T c.(313-315)CGG>CTG p.R105L DCAKD_uc010daa.1_Missense_Mutation_p.R105L|DCAKD_uc010dab.1_Missense_Mutation_p.R105L|DCAKD_uc002ihy.2_Missense_Mutation_p.R105L NM_024819 NP_079095 Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 105 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity 0 Prostate(33;0.155) GCACTTACCCCGGAGGAAGTA 0.622 15 42 --- --- --- --- PASS FMNL1 752 broad.mit.edu 37 17 43321333 43321333 + Missense_Mutation SNP C A A rs138140582 TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr17:43321333C>A uc002iin.2 + 18 2589 c.2389C>A c.(2389-2391)CGC>AGC p.R797S FMNL1_uc002iiq.2_Missense_Mutation_p.R375S|FMNL1_uc010dag.2_RNA NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 797 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 CCTGCCGGAGCGCATGACCAC 0.662 7 101 --- --- --- --- PASS MAP2K6 5608 broad.mit.edu 37 17 67515558 67515558 + Silent SNP C T T rs55977235 TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr17:67515558C>T uc002jij.2 + 5 639 c.351C>T c.(349-351)GGC>GGT p.G117G MAP2K6_uc002jii.2_Silent_p.G117G|MAP2K6_uc002jik.2_Silent_p.G147G NM_002758 NP_002749 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 117 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|pancreas(1) 5 Breast(10;6.05e-10) CCTTTTATGGCGCACTGTTTC 0.433 5 212 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73727038 73727038 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr17:73727038C>A uc002jpg.2 + 9 1272 c.1085C>A c.(1084-1086)GCC>GAC p.A362D ITGB4_uc002jph.2_Missense_Mutation_p.A362D|ITGB4_uc010dgo.2_Missense_Mutation_p.A362D|ITGB4_uc002jpi.3_Missense_Mutation_p.A362D|ITGB4_uc010dgp.1_Missense_Mutation_p.A362D|ITGB4_uc002jpj.2_Missense_Mutation_p.A362D|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 362 Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGGAGGAGGCCTTCAATGTG 0.612 6 101 --- --- --- --- PASS RPTOR 57521 broad.mit.edu 37 17 78867568 78867568 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr17:78867568C>T uc002jyt.1 + 20 3109 c.2304C>T c.(2302-2304)ACC>ACT p.T768T RPTOR_uc010wug.1_Silent_p.T610T NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 768 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CCAGCAGCACCCTGGGCAGCC 0.667 12 68 --- --- --- --- PASS ROCK1 6093 broad.mit.edu 37 18 18533574 18533574 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr18:18533574G>A uc002kte.2 - 32 4967 c.4026C>T c.(4024-4026)TTC>TTT p.F1342F NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 1342 Auto-inhibitory. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CCACTTTCCGGAAAGACTGAT 0.358 5 247 --- --- --- --- PASS NPC1 4864 broad.mit.edu 37 18 21123435 21123435 + Silent SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr18:21123435A>T uc002kum.3 - 14 2503 c.2229T>A c.(2227-2229)ACT>ACA p.T743T NPC1_uc010xaz.1_Silent_p.T476T|NPC1_uc010xba.1_Silent_p.T588T NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 743 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAAATGCTACAGTCTCAGAAA 0.488 15 90 --- --- --- --- PASS ZNF532 55205 broad.mit.edu 37 18 56587032 56587032 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr18:56587032G>C uc002lho.2 + 4 2060 c.1513G>C c.(1513-1515)GTC>CTC p.V505L ZNF532_uc002lhp.2_Missense_Mutation_p.V503L|ZNF532_uc010xeg.1_Missense_Mutation_p.V503L|ZNF532_uc002lhr.2_Missense_Mutation_p.V503L|ZNF532_uc002lhs.2_Missense_Mutation_p.V503L NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 GCAGCAAACTGTCGTGGTGCC 0.572 5 49 --- --- --- --- PASS AES 166 broad.mit.edu 37 19 3055671 3055671 + Silent SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:3055671G>C uc002lwy.1 - 5 461 c.288C>G c.(286-288)CTC>CTG p.L96L AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Silent_p.L96L|AES_uc002lxa.1_Silent_p.L40L|AES_uc002lxb.1_Silent_p.L163L|AES_uc002lxc.2_Silent_p.L163L NM_001130 NP_001121 Q08117 AES_HUMAN amino-terminal enhancer of split isoform b 96 Gln-rich (Q domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCTTGGGAGAGGTAGGGCA 0.637 4 68 --- --- --- --- PASS TICAM1 148022 broad.mit.edu 37 19 4817415 4817415 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:4817415G>A uc002mbi.2 - 2 1226 c.975C>T c.(973-975)CCC>CCT p.P325P NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 325 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TGACAGAGCAGGGGTTTTTGA 0.567 15 88 --- --- --- --- PASS KIAA1543 57662 broad.mit.edu 37 19 7682718 7682718 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:7682718G>A uc002mgv.3 + 17 3626 c.3525G>A c.(3523-3525)CTG>CTA p.L1175L KIAA1543_uc002mgu.3_Silent_p.L1202L|KIAA1543_uc002mgw.2_Silent_p.L305L NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 1175 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 TCTACACGCTGTCGGGGGAGA 0.612 8 30 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9088858 9088858 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:9088858G>A uc002mkp.2 - 1 3161 c.2957C>T c.(2956-2958)TCA>TTA p.S986L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 986 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 GGCAGAGGTTGAAACAGTGGT 0.463 14 331 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9089167 9089167 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:9089167C>T uc002mkp.2 - 1 2852 c.2648G>A c.(2647-2649)AGA>AAA p.R883K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 883 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 GGTCCTTACTCTGGAAACAGA 0.483 3 38 --- --- --- --- PASS CYP4F8 11283 broad.mit.edu 37 19 15739591 15739591 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:15739591C>T uc002nbi.2 + 14 1399 c.1335C>T c.(1333-1335)TTC>TTT p.F445F CYP4F8_uc010xoj.1_Silent_p.F257F NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 445 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CCTTCCGCTTCGACCCAGAAA 0.602 8 83 --- --- --- --- PASS OR10H3 26532 broad.mit.edu 37 19 15853137 15853137 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:15853137G>T uc010xoq.1 + 1 935 c.935G>T c.(934-936)TGC>TTC p.C312F NM_013938 NP_039226 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGAAGGTTCTGCCCTCTAAGC 0.323 4 113 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22156774 22156774 + Silent SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:22156774T>A uc002nqp.2 - 4 1211 c.1062A>T c.(1060-1062)TCA>TCT p.S354S ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TAGTAAGGATTGAGAACTTAC 0.398 6 55 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22156775 22156775 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:22156775G>A uc002nqp.2 - 4 1210 c.1061C>T c.(1060-1062)TCA>TTA p.S354L ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGTAAGGATTGAGAACTTACT 0.403 6 55 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22942420 22942420 + Missense_Mutation SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:22942420T>A uc010xrh.1 - 4 354 c.354A>T c.(352-354)GAA>GAT p.E118D NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCAATATTATTTCTTGGAAAG 0.313 11 53 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30936147 30936147 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:30936147G>T uc002nsu.1 + 2 1816 c.1678G>T c.(1678-1680)GAT>TAT p.D560Y ZNF536_uc010edd.1_Missense_Mutation_p.D560Y NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGTTCTGTTTGATAAGGAGAA 0.537 6 136 --- --- --- --- PASS CEBPG 1054 broad.mit.edu 37 19 33870400 33870400 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:33870400G>A uc002nup.2 + 2 544 c.255G>A c.(253-255)CAG>CAA p.Q85Q NM_001806 NP_001797 P53567 CEBPG_HUMAN CCAAT/enhancer binding protein gamma 85 Basic motif. B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Esophageal squamous(110;0.137) AAAGCAAGCAGAAAGCACAAG 0.453 6 25 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38610493 38610493 + Missense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:38610493G>C uc002ohk.2 + 9 3348 c.2839G>C c.(2839-2841)GAC>CAC p.D947H NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 947 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) TTCTGTGGAGGACATAAGGGA 0.532 8 44 --- --- --- --- PASS CEACAM6 4680 broad.mit.edu 37 19 42265883 42265883 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:42265883C>G uc002orm.2 + 4 859 c.710C>G c.(709-711)CCA>CGA p.P237R NM_002483 NP_002474 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion 237 Ig-like C2-type 2. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CCAGATGGCCCAGATGGCCCC 0.557 4 136 --- --- --- --- PASS PSG7 5676 broad.mit.edu 37 19 43430857 43430857 + Nonsense_Mutation SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:43430857T>A uc002ovl.3 - 5 823 c.721A>T c.(721-723)AAG>TAG p.K241* PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Nonsense_Mutation_p.K119* NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 241 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) ATGTAGGGCTTGGGCAGCTTC 0.468 17 304 --- --- --- --- PASS PSG6 5675 broad.mit.edu 37 19 43585314 43585314 + Missense_Mutation SNP T A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:43585314T>A uc002ovi.2 - 2 242 c.149A>T c.(148-150)GAT>GTT p.D50V PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.D50V|PSG2_uc002ovq.3_Missense_Mutation_p.D50V|PSG2_uc010eiq.1_Missense_Mutation_p.D50V|PSG2_uc002ovs.3_Missense_Mutation_p.D50V|PSG2_uc002ovt.3_Missense_Mutation_p.D50V Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 50 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) TAGAAGAACATCCTTCCCCTC 0.468 13 249 --- --- --- --- PASS NANOS2 339345 broad.mit.edu 37 19 46417622 46417622 + Silent SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:46417622C>A uc002pdu.2 - 1 415 c.330G>T c.(328-330)ACG>ACT p.T110T NM_001029861 NP_001025032 P60321 NANO2_HUMAN nanos homolog 2 110 Nanos-type.|C2HC 2. germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding 0 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) AGTACTTGAGCGTATGGGCCT 0.657 6 41 --- --- --- --- PASS SIGLEC14 100049587 broad.mit.edu 37 19 52147135 52147135 + Silent SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:52147135G>T uc002pxf.3 - 5 1029 c.909C>A c.(907-909)ACC>ACA p.T303T NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 303 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GCAGCTCCAGGGTCCCAGACA 0.592 15 58 --- --- --- --- PASS HAS1 3036 broad.mit.edu 37 19 52220302 52220302 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:52220302G>T uc002pxo.1 - 3 882 c.847C>A c.(847-849)CTG>ATG p.L283M HAS1_uc010epc.1_Translation_Start_Site|HAS1_uc010epd.1_Missense_Mutation_p.L248M|HAS1_uc002pxn.1_Missense_Mutation_p.L290M|HAS1_uc002pxp.1_Missense_Mutation_p.L282M NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 283 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CAGTATCGCAGGCTGCTTAGG 0.597 16 94 --- --- --- --- PASS LILRA6 79168 broad.mit.edu 37 19 54744726 54744726 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:54744726G>A uc002qeu.1 - 5 1060 c.936C>T c.(934-936)CCC>CCT p.P312P LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.P312P|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.P312P|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.P312P|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.P312P|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.P312P|LILRA6_uc010yeq.1_Silent_p.P312P|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.P173P NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 312 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGATGTTCAGGGGGTCGCTGG 0.682 14 142 --- --- --- --- PASS KIR2DS4 3809 broad.mit.edu 37 19 55354355 55354355 + Missense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:55354355G>A uc002qhm.1 + 6 743 c.697G>A c.(697-699)GAA>AAA p.E233K KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 233 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) TTCACCCACTGAACCAAGCTC 0.498 6 296 --- --- --- --- PASS ZNF304 57343 broad.mit.edu 37 19 57868963 57868963 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr19:57868963C>A uc010ygw.1 + 3 2114 c.1726C>A c.(1726-1728)CAA>AAA p.Q576K ZNF304_uc010etw.2_Missense_Mutation_p.Q623K|ZNF304_uc010etx.2_Missense_Mutation_p.Q534K NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 576 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CCACCTTGTTCAACACAAGAA 0.483 3 53 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8628584 8628584 + Missense_Mutation SNP C T T rs142186851 TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr20:8628584C>T uc002wnb.2 + 6 505 c.502C>T c.(502-504)CGT>TGT p.R168C PLCB1_uc010zrb.1_Missense_Mutation_p.R67C|PLCB1_uc010gbv.1_Missense_Mutation_p.R168C|PLCB1_uc002wmz.1_Missense_Mutation_p.R168C|PLCB1_uc002wna.2_Missense_Mutation_p.R168C|PLCB1_uc002wnc.1_Missense_Mutation_p.R67C NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 168 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TCCAGAAGGGCGTATTCCTCT 0.323 4 116 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 41306584 41306584 + Nonsense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr20:41306584G>A uc002xkg.2 - 7 1259 c.1075C>T c.(1075-1077)CGA>TGA p.R359* PTPRT_uc010ggj.2_Nonsense_Mutation_p.R359* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 359 Extracellular (Potential).|Fibronectin type-III 1. 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) AGGAGCACTCGGATCTCATAC 0.567 18 104 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33067159 33067159 + Silent SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr21:33067159T>C uc002ypd.2 - 10 1629 c.1203A>G c.(1201-1203)CAA>CAG p.Q401Q SFRS15_uc002ype.2_Silent_p.Q401Q|SFRS15_uc010glu.2_Silent_p.Q386Q|SFRS15_uc002ypf.1_Silent_p.Q75Q NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 401 nucleus nucleotide binding|RNA binding 0 GTGGTTCATTTTGTGCCTGAA 0.433 11 56 --- --- --- --- PASS DYRK1A 1859 broad.mit.edu 37 21 38862490 38862490 + Silent SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr21:38862490C>G uc002ywk.2 + 6 753 c.678C>G c.(676-678)CGC>CGG p.R226R DYRK1A_uc002ywi.2_Silent_p.R226R|DYRK1A_uc002ywj.2_Silent_p.R217R|DYRK1A_uc002ywl.2_Silent_p.R226R|DYRK1A_uc002ywm.2_Silent_p.R226R|DYRK1A_uc011aei.1_5'UTR NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 226 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 ATTTGAAACGCCACTTTATGT 0.348 3 79 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47822383 47822383 + Missense_Mutation SNP A T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr21:47822383A>T uc002zji.3 + 27 5208 c.5101A>T c.(5101-5103)AAC>TAC p.N1701Y PCNT_uc002zjj.2_Missense_Mutation_p.N1583Y NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1701 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TGAGGAAGAGAACACGAGCTT 0.493 6 65 --- --- --- --- PASS PIWIL3 440822 broad.mit.edu 37 22 25115789 25115789 + Missense_Mutation SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr22:25115789C>T uc003abd.1 - 20 2875 c.2458G>A c.(2458-2460)GAC>AAC p.D820N PIWIL3_uc011ajx.1_Missense_Mutation_p.D702N|PIWIL3_uc011ajy.1_Missense_Mutation_p.D702N|PIWIL3_uc010gut.1_Missense_Mutation_p.D811N NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 820 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 CCAATCGTGTCATAGATGACG 0.378 8 63 --- --- --- --- PASS ISX 91464 broad.mit.edu 37 22 35478545 35478545 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr22:35478545C>T uc003anj.2 + 2 1215 c.264C>T c.(262-264)ACC>ACT p.T88T ISX_uc011amg.1_Silent_p.T76T NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 88 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 TTCGTACCACCTTCACCACTG 0.562 12 102 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 39994197 39994197 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr22:39994197G>T uc003ayc.2 + 2 278 c.278G>T c.(277-279)TGC>TTC p.C93F CACNA1I_uc003ayd.2_Missense_Mutation_p.C93F|CACNA1I_uc003aye.2_Missense_Mutation_p.C8F|CACNA1I_uc003ayf.2_Missense_Mutation_p.C8F NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 93 Helical; Name=S1 of repeat I; (Potential).|I. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTGCTGAACTGCGTGACACTT 0.542 3 16 --- --- --- --- PASS IL17REL 400935 broad.mit.edu 37 22 50438983 50438983 + Silent SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr22:50438983G>T uc003bje.1 - 6 490 c.258C>A c.(256-258)GCC>GCA p.A86A NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 86 pancreas(1) 1 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) AGAGGTGCTGGGCCACGCTCA 0.652 19 92 --- --- --- --- PASS MAPK11 5600 broad.mit.edu 37 22 50704662 50704662 + Nonsense_Mutation SNP G C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr22:50704662G>C uc003bkr.2 - 9 813 c.755C>G c.(754-756)TCA>TGA p.S252* MAPK11_uc010hax.2_Nonsense_Mutation_p.S74*|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_3'UTR NM_002751 NP_002742 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 252 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding lung(1)|breast(1) 2 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) CACGTGTTCTGAGGAGATTTT 0.607 4 11 --- --- --- --- PASS ARSA 410 broad.mit.edu 37 22 51065062 51065062 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr22:51065062C>G uc003bnb.3 - 5 1058 c.805G>C c.(805-807)GGG>CGG p.G269R ARSA_uc003bna.3_Missense_Mutation_p.G185R|ARSA_uc003bnc.3_Missense_Mutation_p.G269R|ARSA_uc003bnd.3_Missense_Mutation_p.G269R|ARSA_uc003bmz.3_Missense_Mutation_p.G269R|ARSA_uc010hbf.2_3'UTR NM_001085426 NP_001078895 P15289 ARSA_HUMAN arylsulfatase A isoform a precursor 269 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity pancreas(1)|skin(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) Micafungin(DB01141) TCAAGCAGCCCCAGGTCCCCT 0.642 4 44 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51117757 51117757 + Silent SNP C T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr22:51117757C>T uc003bne.1 + 7 786 c.786C>T c.(784-786)CAC>CAT p.H262H NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 262 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GCTTTGGGCACGTGCAGCATC 0.652 12 35 --- --- --- --- PASS CSF2RA 1438 broad.mit.edu 37 X 1409284 1409284 + Silent SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:1409284G>A uc010nct.2 + 8 850 c.528G>A c.(526-528)GTG>GTA p.V176V CSF2RA_uc011mhb.1_Silent_p.V176V|CSF2RA_uc004cpq.2_Silent_p.V176V|CSF2RA_uc004cpn.2_Silent_p.V176V|CSF2RA_uc004cpo.2_Silent_p.V176V|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.V43V|CSF2RA_uc004cpp.2_Silent_p.V176V|CSF2RA_uc010ncv.2_Silent_p.V176V|CSF2RA_uc004cpr.2_Silent_p.V176V NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 176 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GAACCCATGTGGGATGTCACC 0.353 41 263 --- --- --- --- PASS MAGEB2 4113 broad.mit.edu 37 X 30236741 30236741 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:30236741G>T uc004dbz.2 + 2 147 c.44G>T c.(43-45)CGC>CTC p.R15L NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 15 protein binding ovary(1) 1 CGTGAGAAACGCCGCAAGGCC 0.542 5 9 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37953630 37953630 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:37953630C>A uc004ddu.2 + 9 1448 c.914C>A c.(913-915)ACT>AAT p.T305N SYTL5_uc004ddv.2_Missense_Mutation_p.T305N|SYTL5_uc004ddx.2_Missense_Mutation_p.T305N NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 305 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 CGCAGAAACACTTCTGGCACA 0.423 9 35 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79945466 79945466 + Missense_Mutation SNP C A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:79945466C>A uc004edt.2 - 32 3991 c.3728G>T c.(3727-3729)GGG>GTG p.G1243V BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G839V|BRWD3_uc004edp.2_Missense_Mutation_p.G1072V|BRWD3_uc004edq.2_Missense_Mutation_p.G839V|BRWD3_uc010nmj.1_Missense_Mutation_p.G839V|BRWD3_uc004edr.2_Missense_Mutation_p.G913V|BRWD3_uc004eds.2_Missense_Mutation_p.G839V|BRWD3_uc004edu.2_Missense_Mutation_p.G913V|BRWD3_uc004edv.2_Missense_Mutation_p.G839V|BRWD3_uc004edw.2_Missense_Mutation_p.G839V|BRWD3_uc004edx.2_Missense_Mutation_p.G839V|BRWD3_uc004edy.2_Missense_Mutation_p.G839V|BRWD3_uc004edz.2_Missense_Mutation_p.G913V|BRWD3_uc004eea.2_Missense_Mutation_p.G913V|BRWD3_uc004eeb.2_Missense_Mutation_p.G839V NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1243 ovary(4) 4 TGCTTCTTACCCAATAAATCG 0.284 5 26 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91134254 91134254 + Silent SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:91134254G>T uc004efk.1 + 2 3860 c.3015G>T c.(3013-3015)GTG>GTT p.V1005V PCDH11X_uc004efl.1_Silent_p.V1005V|PCDH11X_uc004efo.1_Silent_p.V1005V|PCDH11X_uc010nmv.1_Silent_p.V1005V|PCDH11X_uc004efm.1_Silent_p.V1005V|PCDH11X_uc004efn.1_Silent_p.V1005V|PCDH11X_uc004efh.1_Silent_p.V1005V|PCDH11X_uc004efj.1_Silent_p.V1005V NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1005 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AGGTACCTGTGTCCGTACACA 0.413 33 83 --- --- --- --- PASS AMOT 154796 broad.mit.edu 37 X 112033995 112033995 + Nonsense_Mutation SNP G A A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:112033995G>A uc004epr.2 - 7 1942 c.1942C>T c.(1942-1944)CAG>TAG p.Q648* AMOT_uc004eps.2_Nonsense_Mutation_p.Q239* NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 648 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 TTGGTGGGCTGACAGTTGCCC 0.512 16 45 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123518273 123518273 + Missense_Mutation SNP A G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:123518273A>G uc004euj.2 - 29 6551 c.6487T>C c.(6487-6489)TCT>CCT p.S2163P ODZ1_uc011muj.1_Missense_Mutation_p.S2169P|ODZ1_uc010nqy.2_Missense_Mutation_p.S2170P NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2163 YD 17.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TCATTTACAGAAACAGTCTGA 0.433 3 89 --- --- --- --- PASS TMEM185A 84548 broad.mit.edu 37 X 148685677 148685677 + Missense_Mutation SNP G T T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:148685677G>T uc011mxq.1 - 5 794 c.483C>A c.(481-483)GAC>GAA p.D161E HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.D102E|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.D78E NM_032508 NP_115897 Q8NFB2 T185A_HUMAN transmembrane protein 185A 161 Helical; (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GGATGATCTTGTCCAGTCTTA 0.249 5 74 --- --- --- --- PASS MAGEA8 4107 broad.mit.edu 37 X 149013524 149013524 + Missense_Mutation SNP T C C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:149013524T>C uc004fdw.1 + 3 693 c.478T>C c.(478-480)TGC>CGC p.C160R NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 160 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) AGCCTCTGAGTGCATGCAGGT 0.483 5 67 --- --- --- --- PASS VAMP7 6845 broad.mit.edu 37 X 155127863 155127863 + Missense_Mutation SNP C G G TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chrX:155127863C>G uc004fnr.2 + 4 466 c.292C>G c.(292-294)CTT>GTT p.L98V VAMP7_uc004fnt.2_Missense_Mutation_p.L57V|VAMP7_uc011naa.1_Missense_Mutation_p.L59V|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Missense_Mutation_p.L98V|VAMP7_uc011nac.1_Missense_Mutation_p.L31V NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 98 Longin.|Cytoplasmic (Potential). L -> P (in Ref. 5; BAD96514). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACAGACAGCACTTCCATATGC 0.393 13 156 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 1 243251439 243251439 + RNA DEL T - - TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr1:243251439delT uc001hzq.1 - 8 c.1193delA Homo sapiens cDNA FLJ52610 complete cds. aaaaaaaaaaTTCCTTTGGGA 0.214 4 2 --- --- --- --- WNT6 7475 broad.mit.edu 37 2 219724790 219724792 + In_Frame_Del DEL GCT - - TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr2:219724790_219724792delGCT uc002vjc.1 + 1 245_247 c.30_32delGCT c.(28-33)GGGCTG>GGG p.L17del NM_006522 NP_006513 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, 17 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity ovary(2)|skin(1) 3 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCGCCTCGGGCTGCTGCTGCTG 0.773 4 2 --- --- --- --- KRTAP2-4 85294 broad.mit.edu 37 17 39221759 39221773 + In_Frame_Del DEL GCAGGGGGGCCGGCA - - rs349782 by1000genomes TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 4f321c92-ae27-4253-bd8b-4505ba8c7dc4 288537e6-f3c2-47bd-9597-72438bf457a7 g.chr17:39221759_39221773delGCAGGGGGGCCGGCA uc002hvy.2 - 1 359_373 c.325_339delTGCCGGCCCCCCTGC c.(325-339)TGCCGGCCCCCCTGCdel p.CRPPC109del NM_033184 NP_149440 Q9BYR9 KRA24_HUMAN keratin associated protein 2-4 109_113 keratin filament 0 Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204) STAD - Stomach adenocarcinoma(17;0.000371) TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC 0.660 4 2 --- --- --- ---