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 PLA2G2A 5320 broad.mit.edu 37 1 20304528 20304528 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:20304528G>A uc001bcu.2 - 4 490 c.272C>T c.(271-273)TCG>TTG p.S91L PLA2G2A_uc001bcv.2_Missense_Mutation_p.S91L|PLA2G2A_uc010oda.1_Missense_Mutation_p.S91L|PLA2G2A_uc010odb.1_Missense_Mutation_p.S91L NM_001161729 NP_001155201 P14555 PA2GA_HUMAN phospholipase A2, group IIA precursor 91 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCTGCTCCCCGAGTTGCTAAA 0.448 14 69 --- --- --- --- PASS MYOM3 127294 broad.mit.edu 37 1 24426202 24426202 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:24426202G>T uc001bin.3 - 6 787 c.624C>A c.(622-624)AAC>AAA p.N208K MYOM3_uc001bio.2_Missense_Mutation_p.N208K|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 208 Ig-like C2-type 1. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCCCGTAGTTGTTGGTGATTC 0.542 34 84 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34209097 34209097 + Nonsense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:34209097C>A uc001bxn.1 - 14 1866 c.1837G>T c.(1837-1839)GAG>TAG p.E613* CSMD2_uc001bxm.1_Nonsense_Mutation_p.E653* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 613 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATGCGGCTCTCAGGCCTGGCC 0.607 29 102 --- --- --- --- PASS RIMS3 9783 broad.mit.edu 37 1 41107406 41107406 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:41107406C>G uc001cfu.1 - 3 661 c.192G>C c.(190-192)AAG>AAC p.K64N RIMS3_uc001cfv.1_Missense_Mutation_p.K64N NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 64 neurotransmitter transport cell junction|synapse 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) GGAGTGTGCTCTTGCTCCACT 0.662 20 71 --- --- --- --- PASS SLC2A1 6513 broad.mit.edu 37 1 43392786 43392786 + Nonsense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:43392786G>A uc001cik.2 - 10 1930 c.1405C>T c.(1405-1407)CAG>TAG p.Q469* NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 469 Cytoplasmic (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GCTCCCCCCTGCCGGAAGCCG 0.577 58 79 --- --- --- --- PASS DNAJC6 9829 broad.mit.edu 37 1 65851519 65851519 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:65851519C>A uc001dcd.1 + 7 918 c.754C>A c.(754-756)CGC>AGC p.R252S DNAJC6_uc001dcc.1_Missense_Mutation_p.R283S|DNAJC6_uc010opc.1_Missense_Mutation_p.R239S|DNAJC6_uc001dce.1_Missense_Mutation_p.R309S NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 252 C2 tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 GAATGGATGTCGCCCTTACTG 0.418 57 55 --- --- --- --- PASS PTGFR 5737 broad.mit.edu 37 1 79002200 79002200 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:79002200T>A uc001din.2 + 3 1174 c.908T>A c.(907-909)GTA>GAA p.V303E PTGFR_uc001dim.2_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 303 Helical; Name=7; (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GATCCTTGGGTATATATTCTT 0.398 39 169 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103453275 103453275 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:103453275G>A uc001dul.2 - 30 2734 c.2416C>T c.(2416-2418)CCA>TCA p.P806S COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P818S|COL11A1_uc001dun.2_Missense_Mutation_p.P767S|COL11A1_uc009weh.2_Missense_Mutation_p.P690S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 806 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCCCTCTTGGGCCAATTTGA 0.388 31 100 --- --- --- --- PASS SARS 6301 broad.mit.edu 37 1 109779170 109779170 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:109779170G>A uc001dwu.1 + 9 1332 c.1257G>A c.(1255-1257)AAG>AAA p.K419K SARS_uc001dwv.1_Silent_p.K419K|SARS_uc001dww.1_Silent_p.K352K|SARS_uc001dwx.1_Silent_p.K371K|SARS_uc009wfa.1_Intron|SARS_uc001dwy.1_Silent_p.K244K|SARS_uc001dwz.1_Silent_p.K244K NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 419 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TGATGGACAAGGTAGATGGCC 0.557 15 69 --- --- --- --- PASS GSTM5 2949 broad.mit.edu 37 1 110254936 110254936 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:110254936T>A uc001dyn.2 + 1 73 c.2T>A c.(1-3)ATG>AAG p.M1K GSTM5_uc010ovu.1_5'UTR NM_000851 NP_000842 P46439 GSTM5_HUMAN glutathione S-transferase mu 5 1 xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity central_nervous_system(6) 6 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) ACCAGCACCATGCCCATGACT 0.667 82 250 --- --- --- --- PASS CD53 963 broad.mit.edu 37 1 111434971 111434971 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:111434971G>T uc001dzw.2 + 4 239 c.68G>T c.(67-69)TGT>TTT p.C23F CD53_uc001dzx.2_Missense_Mutation_p.C23F|CD53_uc010owa.1_Missense_Mutation_p.C23F|CD53_uc001dzy.2_Missense_Mutation_p.C23F NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 23 Helical; (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) TTTCAGATCTGTGGCTGCTGC 0.458 40 48 --- --- --- --- PASS BCL9 607 broad.mit.edu 37 1 147083634 147083634 + Translation_Start_Site SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:147083634C>G uc001epq.2 + 4 739 c.-1C>G c.(-3-1)ATCAA>ATGAA BCL9_uc010ozr.1_Translation_Start_Site NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) GGATTTCAATCAATGCATTCC 0.577 T IGH@|IGL@ B-ALL 35 74 --- --- --- --- PASS RPRD2 23248 broad.mit.edu 37 1 150443105 150443105 + Missense_Mutation SNP A C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:150443105A>C uc009wlr.2 + 11 1882 c.1681A>C c.(1681-1683)ACT>CCT p.T561P RPRD2_uc010pcc.1_Missense_Mutation_p.T535P|RPRD2_uc001eup.3_Missense_Mutation_p.T535P NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 561 Ser-rich. protein binding ovary(1) 1 CTCACAGAGCACTTCAGCCTC 0.478 14 27 --- --- --- --- PASS ZNF687 57592 broad.mit.edu 37 1 151260226 151260226 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:151260226G>C uc001exq.2 + 2 1557 c.1459G>C c.(1459-1461)GGC>CGC p.G487R ZNF687_uc001exp.1_Missense_Mutation_p.G496R|ZNF687_uc009wmo.2_Missense_Mutation_p.G487R|ZNF687_uc009wmp.2_Missense_Mutation_p.G487R NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TACAGGGGGCGGCACAGTGAT 0.607 39 97 --- --- --- --- PASS INTS3 65123 broad.mit.edu 37 1 153745435 153745435 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:153745435G>A uc009wom.2 + 30 3150 c.2929G>A c.(2929-2931)GAG>AAG p.E977K INTS3_uc001fct.2_Missense_Mutation_p.E977K|INTS3_uc001fcu.2_Missense_Mutation_p.E669K|INTS3_uc001fcv.2_Missense_Mutation_p.E771K|INTS3_uc010peb.1_Missense_Mutation_p.E837K|INTS3_uc001fcw.2_Missense_Mutation_p.E490K|INTS3_uc010pec.1_Missense_Mutation_p.E490K|INTS3_uc001fcy.2_Missense_Mutation_p.E340K|INTS3_uc001fcx.2_Missense_Mutation_p.E274K NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 978 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGAGGAATATGAGGACTCTTC 0.562 58 143 --- --- --- --- PASS GATAD2B 57459 broad.mit.edu 37 1 153782741 153782741 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:153782741C>T uc001fdb.3 - 11 1938 c.1694G>A c.(1693-1695)GGC>GAC p.G565D NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 565 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAAACTGGGGCCTTTGTGTCC 0.488 44 64 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 153973458 153973458 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:153973458C>T uc001fdw.2 - 37 5332 c.5260G>A c.(5260-5262)GTA>ATA p.V1754I NUP210L_uc009woq.2_Missense_Mutation_p.V663I|NUP210L_uc010peh.1_Intron NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1754 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ACCACTCTTACAGAGTAAATG 0.488 75 150 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158596725 158596725 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:158596725G>A uc001fst.1 - 41 5936 c.5737C>T c.(5737-5739)CTG>TTG p.L1913L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1913 Spectrin 18. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GCCTTAGCCAGAGAAGGGGTC 0.438 87 179 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 172051015 172051015 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:172051015A>G uc001gie.2 + 12 1642 c.1466A>G c.(1465-1467)AAC>AGC p.N489S DNM3_uc001gid.3_Missense_Mutation_p.N489S|DNM3_uc009wwb.2_Missense_Mutation_p.N489S|DNM3_uc001gif.2_Missense_Mutation_p.N489S NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 489 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 ATCAACACCAACCATGAAGAC 0.363 47 127 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179561943 179561943 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:179561943C>A uc001gnf.1 + 2 443 c.193C>A c.(193-195)CGT>AGT p.R65S TDRD5_uc010pnp.1_Missense_Mutation_p.R65S|uc010pno.1_5'Flank NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 65 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 TGATGTTGTTCGTGTCTGCCC 0.423 43 103 --- --- --- --- PASS NAV1 89796 broad.mit.edu 37 1 201687762 201687762 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:201687762A>G uc001gwu.2 + 3 1452 c.1105A>G c.(1105-1107)ATC>GTC p.I369V NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 369 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 GCTCAGCCATATCTCCCGCCT 0.642 70 111 --- --- --- --- PASS PRELP 5549 broad.mit.edu 37 1 203452317 203452317 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:203452317G>A uc001gzs.2 + 2 205 c.5G>A c.(4-6)AGG>AAG p.R2K PRELP_uc001gzt.2_Missense_Mutation_p.R2K NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 2 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) TGGATCATGAGGTCACCCCTC 0.572 83 220 --- --- --- --- PASS PM20D1 148811 broad.mit.edu 37 1 205801751 205801751 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:205801751G>A uc001hdj.2 - 11 1305 c.1260C>T c.(1258-1260)TTC>TTT p.F420F PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 420 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TGACTTCCGGGAAGACGGACT 0.562 40 95 --- --- --- --- PASS C1orf107 27042 broad.mit.edu 37 1 210012355 210012355 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:210012355C>A uc001hhr.1 + 7 1240 c.1164C>A c.(1162-1164)AAC>AAA p.N388K C1orf107_uc009xcu.1_Missense_Mutation_p.N103K NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 388 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) TTGTGAGCAACAAAAAGAGGT 0.493 60 138 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211192563 211192563 + Nonsense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:211192563G>C uc001hib.2 - 6 764 c.594C>G c.(592-594)TAC>TAG p.Y198* KCNH1_uc001hic.2_Nonsense_Mutation_p.Y198* NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 198 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCTCTTGCTTGTACTGGGGAA 0.428 30 108 --- --- --- --- PASS MOSC1 64757 broad.mit.edu 37 1 220970070 220970070 + Missense_Mutation SNP C T T rs144056103 TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:220970070C>T uc001hms.2 + 3 783 c.535C>T c.(535-537)CGC>TGC p.R179C MOSC1_uc001hmt.2_Missense_Mutation_p.R179C NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN MOCO sulphurase C-terminal domain containing 1 179 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.0358) ACAGCCCTACCGCCTGGTGCA 0.602 29 37 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226924191 226924191 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:226924191G>A uc010pvo.1 - 2 1309 c.969C>T c.(967-969)CTC>CTT p.L323L ITPKB_uc001hqh.2_Silent_p.L323L NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 323 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) ACGGCTCAGTGAGGGCAAGAT 0.627 48 69 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228529182 228529182 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:228529182C>T uc009xez.1 + 74 17945 c.17901C>T c.(17899-17901)CGC>CGT p.R5967R OBSCN_uc001hsn.2_Silent_p.R5967R|OBSCN_uc001hsr.1_Silent_p.R596R NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5967 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGGATGACCGCGCCTTCGAGG 0.637 8 19 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237777821 237777821 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:237777821C>A uc001hyl.1 + 37 5513 c.5393C>A c.(5392-5394)GCT>GAT p.A1798D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1798 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGACAGAAGCTGTTAAAGAG 0.463 118 261 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343407 248343407 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:248343407G>T uc010pzf.1 + 1 120 c.120G>T c.(118-120)ATG>ATT p.M40I NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGCCTTCATGGGAAACTCTG 0.522 39 415 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248737448 248737448 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr1:248737448G>T uc001iep.1 - 1 611 c.611C>A c.(610-612)ACG>AAG p.T204K NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCACAGGTACGTGAGCATCTT 0.517 64 308 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1507739 1507739 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:1507739C>A uc002qww.2 + 14 2497 c.2406C>A c.(2404-2406)GAC>GAA p.D802E TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D745E|TPO_uc002qwr.2_Missense_Mutation_p.D802E|TPO_uc002qwx.2_Missense_Mutation_p.D745E|TPO_uc010yio.1_Missense_Mutation_p.D629E|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 802 Extracellular (Potential).|EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AGTGTGCAGACGGTGCCCACC 0.642 29 41 --- --- --- --- PASS ASAP2 8853 broad.mit.edu 37 2 9490936 9490936 + Splice_Site SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:9490936G>A uc002qzh.2 + 12 1364 c.1024_splice c.e12-1 p.A342_splice ASAP2_uc002qzi.2_Splice_Site_p.A342_splice NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 CTTTTAAACAGGCTAACCGGC 0.468 8 58 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11780490 11780490 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:11780490C>G uc002rbk.1 + 33 6060 c.5760C>G c.(5758-5760)GAC>GAG p.D1920E GREB1_uc002rbp.1_Missense_Mutation_p.D918E NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1920 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AGCTCGAGGACGAGTGGCAGT 0.627 7 40 --- --- --- --- PASS DDX1 1653 broad.mit.edu 37 2 15767206 15767206 + Silent SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:15767206A>T uc002rce.2 + 20 1911 c.1623A>T c.(1621-1623)TCA>TCT p.S541S DDX1_uc010yjq.1_Silent_p.S449S NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 541 Helicase C-terminal.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.|Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) ACCAGTTCTCATGTGTTTGTC 0.343 38 52 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27802598 27802598 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:27802598G>C uc002rkz.3 + 1 3210 c.3159G>C c.(3157-3159)CAG>CAC p.Q1053H NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1053 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) AGGACTCACAGAGTGATTCCC 0.473 90 131 --- --- --- --- PASS MAP4K3 8491 broad.mit.edu 37 2 39485729 39485729 + Splice_Site SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:39485729C>T uc002rro.2 - 30 2400 c.2309_splice c.e30-1 p.D770_splice MAP4K3_uc002rrp.2_Splice_Site_p.D749_splice|MAP4K3_uc010yns.1_Splice_Site_p.D323_splice NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TGTGGGGTATCTACAATACAA 0.333 10 98 --- --- --- --- PASS ZFP36L2 678 broad.mit.edu 37 2 43452461 43452461 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:43452461G>C uc002rsv.3 - 2 773 c.482C>G c.(481-483)CCC>CGC p.P161R LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 161 C3H1-type 1. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CTCCTCGAAGGGCCGGCACAG 0.652 21 28 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55601952 55601952 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:55601952G>A uc002ryv.2 - 4 1183 c.341C>T c.(340-342)TCT>TTT p.S114F CCDC88A_uc010yoz.1_Missense_Mutation_p.S114F|CCDC88A_uc010ypa.1_Missense_Mutation_p.S114F|CCDC88A_uc010ypb.1_Missense_Mutation_p.S16F NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 114 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 ATACTTACCAGAAAAGGGATT 0.194 13 128 --- --- --- --- PASS FANCL 55120 broad.mit.edu 37 2 58459241 58459241 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:58459241C>A uc002rzw.3 - 2 170 c.103G>T c.(103-105)GAC>TAC p.D35Y FANCL_uc002rzx.3_Missense_Mutation_p.D35Y|FANCL_uc010fce.2_Missense_Mutation_p.D35Y|FANCL_uc010fcf.1_Intron NM_018062 NP_060532 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L isoform 35 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 AGGTGGAAGTCTCTTCCCTGT 0.348 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 47 47 --- --- --- --- PASS AFTPH 54812 broad.mit.edu 37 2 64780404 64780404 + Missense_Mutation SNP G C C rs145180972 byFrequency TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:64780404G>C uc002sdc.2 + 1 1828 c.1796G>C c.(1795-1797)CGA>CCA p.R599P AFTPH_uc002scz.2_Missense_Mutation_p.R599P|AFTPH_uc002sda.2_Missense_Mutation_p.R599P|AFTPH_uc002sdb.2_Missense_Mutation_p.R599P NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 599 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 TCTCATCATCGAAAGGAAGCC 0.448 29 183 --- --- --- --- PASS AFTPH 54812 broad.mit.edu 37 2 64780445 64780445 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:64780445G>C uc002sdc.2 + 1 1869 c.1837G>C c.(1837-1839)GAT>CAT p.D613H AFTPH_uc002scz.2_Missense_Mutation_p.D613H|AFTPH_uc002sda.2_Missense_Mutation_p.D613H|AFTPH_uc002sdb.2_Missense_Mutation_p.D613H NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 613 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 TGAAAATATTGATACTCCAGG 0.463 28 163 --- --- --- --- PASS TIA1 7072 broad.mit.edu 37 2 70457920 70457920 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:70457920C>G uc002sgj.3 - 3 407 c.190G>C c.(190-192)GCT>CCT p.A64P TIA1_uc002sgk.3_Missense_Mutation_p.A64P|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Missense_Mutation_p.A64P|TIA1_uc010yqt.1_Missense_Mutation_p.A64P NM_022173 NP_071505 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding 64 RRM 1. apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding 0 TTCATAGCAGCTAATGCTGCA 0.383 40 111 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73679497 73679497 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:73679497G>T uc002sje.1 + 10 5957 c.5846G>T c.(5845-5847)AGT>ATT p.S1949I ALMS1_uc002sjf.1_Missense_Mutation_p.S1905I|ALMS1_uc002sjg.2_Missense_Mutation_p.S1335I|ALMS1_uc002sjh.1_Missense_Mutation_p.S1335I NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1947 34 X 47 AA approximate tandem repeat.|30. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GAGAAGCCCAGTGTTATCTCT 0.443 43 69 --- --- --- --- PASS TACR1 6869 broad.mit.edu 37 2 75425883 75425883 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:75425883G>C uc002sng.2 - 1 763 c.178C>G c.(178-180)CAC>GAC p.H60D TACR1_uc002snh.2_Missense_Mutation_p.H60D NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 60 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) ATTCTTTTGTGGGCTAAGATG 0.522 22 36 --- --- --- --- PASS ASTL 431705 broad.mit.edu 37 2 96795863 96795863 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:96795863T>A uc010yui.1 - 7 659 c.659A>T c.(658-660)AAG>ATG p.K220M NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 220 proteolysis metalloendopeptidase activity|zinc ion binding 0 GCTCTGAGACTTGATGAAGTT 0.483 44 99 --- --- --- --- PASS SEPT10 151011 broad.mit.edu 37 2 110350640 110350640 + Missense_Mutation SNP A C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:110350640A>C uc002tew.2 - 2 466 c.87T>G c.(85-87)GAT>GAG p.D29E SEPT10_uc010ywu.1_Missense_Mutation_p.D29E|SEPT10_uc002tex.2_Intron|SEPT10_uc002tey.2_Missense_Mutation_p.D29E|SEPT10_uc010ywv.1_5'UTR NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 29 cell cycle|cell division septin complex GTP binding 0 TCTGTTCATCATCTGATCCTT 0.323 24 151 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116066869 116066869 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:116066869C>A uc002tla.1 + 2 572 c.115C>A c.(115-117)CTG>ATG p.L39M DPP10_uc002tlb.1_Translation_Start_Site|DPP10_uc002tlc.1_Missense_Mutation_p.L35M|DPP10_uc002tle.2_Missense_Mutation_p.L43M|DPP10_uc002tlf.1_Missense_Mutation_p.L32M NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 39 Mediates effects on KCND2.|Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TGCTATTGCTCTGCTGGTGAT 0.403 46 93 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135745727 135745727 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:135745727G>C uc002tue.1 - 7 746 c.715C>G c.(715-717)CCA>GCA p.P239A YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P126A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Missense_Mutation_p.P256A NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 239 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GTGAGACTTGGAATGTTTCTT 0.468 102 196 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141032062 141032062 + Missense_Mutation SNP A C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:141032062A>C uc002tvj.1 - 85 14045 c.13073T>G c.(13072-13074)GTT>GGT p.V4358G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4358 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACACTTGTCAACCTCACATTT 0.413 TSP Lung(27;0.18) 55 131 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141072664 141072664 + Silent SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:141072664A>G uc002tvj.1 - 83 13617 c.12645T>C c.(12643-12645)GAT>GAC p.D4215D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4215 Extracellular (Potential).|EGF-like 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTTACATGAATCATCTGTTT 0.308 TSP Lung(27;0.18) 14 79 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141201916 141201916 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:141201916T>A uc002tvj.1 - 65 11249 c.10277A>T c.(10276-10278)GAA>GTA p.E3426V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3426 Extracellular (Potential).|LDL-receptor class A 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTTTCATCTTCCTCATCACC 0.358 TSP Lung(27;0.18) 19 195 --- --- --- --- PASS NMI 9111 broad.mit.edu 37 2 152139423 152139423 + Nonsense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:152139423C>A uc002txi.2 - 2 370 c.40G>T c.(40-42)GAG>TAG p.E14* NMI_uc010zbx.1_Nonsense_Mutation_p.E14*|NMI_uc002txj.2_Nonsense_Mutation_p.E14* NM_004688 NP_004679 Q13287 NMI_HUMAN N-myc and STAT interactor 14 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity 0 BRCA - Breast invasive adenocarcinoma(221;0.0571) GGCGAATGCTCCTTAAGAATT 0.249 37 68 --- --- --- --- PASS KBTBD10 10324 broad.mit.edu 37 2 170374740 170374740 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:170374740G>A uc002ueu.1 + 4 1494 c.1417G>A c.(1417-1419)GGA>AGA p.G473R KBTBD10_uc010zdh.1_Missense_Mutation_p.G411R NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 473 Kelch 3. striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 CCCCAAAAAAGGAGATTGGAA 0.378 42 58 --- --- --- --- PASS AGPS 8540 broad.mit.edu 37 2 178346847 178346847 + Missense_Mutation SNP A C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:178346847A>C uc002ull.2 + 11 1213 c.1166A>C c.(1165-1167)AAG>ACG p.K389T AGPS_uc010zfb.1_Missense_Mutation_p.K299T NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 389 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) GAATACCAAAAGTATGGCTCA 0.323 8 64 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179667021 179667021 + Missense_Mutation SNP A C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:179667021A>C uc002und.2 - 3 364 c.139T>G c.(139-141)TCC>GCC p.S47A TTN_uc010zfg.1_Missense_Mutation_p.S47A|TTN_uc010zfh.1_Missense_Mutation_p.S47A|TTN_uc010zfi.1_Missense_Mutation_p.S47A|TTN_uc010zfj.1_Missense_Mutation_p.S47A|TTN_uc002unb.2_Missense_Mutation_p.S47A Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 47 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) GTGGAAGTGGAAATCACCTGG 0.517 22 55 --- --- --- --- PASS SSFA2 6744 broad.mit.edu 37 2 182766798 182766798 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:182766798G>T uc002uoi.2 + 8 1340 c.1018G>T c.(1018-1020)GAT>TAT p.D340Y SSFA2_uc002uoh.2_Missense_Mutation_p.D340Y|SSFA2_uc002uoj.2_Missense_Mutation_p.D340Y|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.D187Y|SSFA2_uc002uol.2_Missense_Mutation_p.D187Y NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 340 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CAATAAAAACGATCAAAAGTC 0.353 12 70 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196741338 196741338 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:196741338T>A uc002utj.3 - 37 6148 c.6047A>T c.(6046-6048)CAG>CTG p.Q2016L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2016 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GACAATATTCTGAGTTTGAGC 0.358 41 111 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196883987 196883987 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:196883987G>T uc002utj.3 - 9 877 c.776C>A c.(775-777)TCT>TAT p.S259Y NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 259 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGCTAAAAAAGATTTCCTCCA 0.333 26 110 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227924179 227924179 + Silent SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:227924179A>G uc010zlt.1 - 28 2979 c.2325T>C c.(2323-2325)CTT>CTC p.L775L NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 775 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCACTCCTGAAAGACCCCTCT 0.602 83 146 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1320115 1320115 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:1320115C>G uc003boz.2 + 5 644 c.377C>G c.(376-378)ACT>AGT p.T126S CNTN6_uc010hbo.2_Missense_Mutation_p.T121S|CNTN6_uc011asj.1_Missense_Mutation_p.T54S|CNTN6_uc003bpa.2_Missense_Mutation_p.T126S NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 126 Ig-like C2-type 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GACTTTGAAACTAAAACAAGA 0.368 51 65 --- --- --- --- PASS HRH1 3269 broad.mit.edu 37 3 11301811 11301811 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:11301811C>T uc010hdr.2 + 2 1430 c.1088C>T c.(1087-1089)TCA>TTA p.S363L HRH1_uc010hds.2_Missense_Mutation_p.S363L|HRH1_uc010hdt.2_Missense_Mutation_p.S363L|HRH1_uc003bwb.3_Missense_Mutation_p.S363L NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 363 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CGAACGGACTCAGATACCACC 0.517 55 50 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19295285 19295285 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:19295285G>T uc003cbk.1 + 2 411 c.216G>T c.(214-216)GGG>GGT p.G72G KCNH8_uc011awe.1_Silent_p.G72G|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 72 Cytoplasmic (Potential).|PAS. integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TCTTATTTGGGGTTGAAACCA 0.423 109 98 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38770244 38770244 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:38770244C>A uc003ciq.2 - 15 2429 c.2429G>T c.(2428-2430)GGG>GTG p.G810V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 810 Helical; Name=S5 of repeat II; (Potential).|II. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTAGTTTTCCCCTAGGAGCTG 0.517 41 54 --- --- --- --- PASS KBTBD5 131377 broad.mit.edu 37 3 42727965 42727965 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:42727965G>A uc003clv.1 + 1 955 c.855G>A c.(853-855)AAG>AAA p.K285K NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 285 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) AGGCTGATAAGGGCACAAGCA 0.582 91 107 --- --- --- --- PASS KBTBD5 131377 broad.mit.edu 37 3 42729743 42729743 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:42729743A>T uc003clv.1 + 2 1362 c.1262A>T c.(1261-1263)GAG>GTG p.E421V NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 421 Kelch 2. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) GGTGGCAGAGAGATCAAGGAC 0.652 27 63 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52538859 52538859 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:52538859G>T uc003dej.2 + 12 1418 c.1344G>T c.(1342-1344)GGG>GGT p.G448G STAB1_uc003dei.1_Silent_p.G448G NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 448 Extracellular (Potential).|FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CGCTGGCCGGGCAGGAGATCA 0.607 26 19 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52551966 52551966 + Missense_Mutation SNP G A A rs147254311 byFrequency TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:52551966G>A uc003dej.2 + 45 4782 c.4708G>A c.(4708-4710)GAC>AAC p.D1570N STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1570 Extracellular (Potential).|EGF-like 13. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ATGTACCTGCGACACAGCCCA 0.607 33 29 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64554154 64554154 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:64554154C>G uc003dmg.2 - 29 4446 c.4414G>C c.(4414-4416)GAT>CAT p.D1472H ADAMTS9_uc011bfo.1_Missense_Mutation_p.D1444H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D1301H|ADAMTS9_uc011bfp.1_Missense_Mutation_p.D383H|uc003dmi.1_Intron NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1472 TSP type-1 11. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGGCTTCCATCTTTTGCCATG 0.443 11 91 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77607259 77607259 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:77607259A>G uc003dpy.3 + 9 2039 c.1396A>G c.(1396-1398)ACA>GCA p.T466A ROBO2_uc003dpz.2_Missense_Mutation_p.T470A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T470A NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 466 Ig-like C2-type 5.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCCAAGAGCAACAATTCAAGA 0.398 20 76 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 78706414 78706414 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:78706414C>A uc003dqe.2 - 18 2656 c.2448G>T c.(2446-2448)TGG>TGT p.W816C ROBO1_uc003dqb.2_Missense_Mutation_p.W777C|ROBO1_uc003dqc.2_Missense_Mutation_p.W780C|ROBO1_uc003dqd.2_Missense_Mutation_p.W780C|ROBO1_uc010hoh.2_Missense_Mutation_p.W8C|ROBO1_uc011bgl.1_Missense_Mutation_p.W388C NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 816 Extracellular (Potential).|Fibronectin type-III 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGCCCAGACACCAAACCTGTA 0.428 10 23 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 78706415 78706415 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:78706415C>G uc003dqe.2 - 18 2655 c.2447G>C c.(2446-2448)TGG>TCG p.W816S ROBO1_uc003dqb.2_Missense_Mutation_p.W777S|ROBO1_uc003dqc.2_Missense_Mutation_p.W780S|ROBO1_uc003dqd.2_Missense_Mutation_p.W780S|ROBO1_uc010hoh.2_Missense_Mutation_p.W8S|ROBO1_uc011bgl.1_Missense_Mutation_p.W388S NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 816 Extracellular (Potential).|Fibronectin type-III 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GCCCAGACACCAAACCTGTAA 0.423 10 23 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134880897 134880897 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:134880897A>T uc003eqt.2 + 7 1680 c.1460A>T c.(1459-1461)CAG>CTG p.Q487L EPHB1_uc003equ.2_Missense_Mutation_p.Q48L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 487 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GCCAGGAGTCAGACCAACACA 0.547 16 162 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173996793 173996793 + Silent SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:173996793A>G uc003fio.1 + 6 1425 c.1002A>G c.(1000-1002)CTA>CTG p.L334L NLGN1_uc010hww.1_Silent_p.L374L|NLGN1_uc003fip.1_Silent_p.L334L NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 351 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGGAATGCCTACAGAAGAAGC 0.423 38 500 --- --- --- --- PASS ZNF639 51193 broad.mit.edu 37 3 179051541 179051541 + Silent SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr3:179051541A>G uc003fjq.1 + 6 1132 c.789A>G c.(787-789)AAA>AAG p.K263K ZNF639_uc003fjr.1_Silent_p.K263K NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 263 C2H2-type 3. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ACATTTGTAAATACTGTGATT 0.393 93 207 --- --- --- --- PASS LRPAP1 4043 broad.mit.edu 37 4 3521853 3521853 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:3521853A>T uc003ghi.2 - 3 502 c.417T>A c.(415-417)AGT>AGA p.S139R NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 139 negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) CCTGGGTGCCACTGAGGGAGT 0.537 28 40 --- --- --- --- PASS COX7B2 170712 broad.mit.edu 37 4 46737167 46737167 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:46737167T>A uc003gxf.2 - 3 223 c.43A>T c.(43-45)ATT>TTT p.I15F COX7B2_uc010ige.2_RNA NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 precursor 15 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity 0 ATGCTTTGAATCTTGAGACTG 0.428 11 115 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47559926 47559926 + Silent SNP T G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:47559926T>G uc003gxk.1 + 12 2234 c.2070T>G c.(2068-2070)GCT>GCG p.A690A ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 690 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GTAGCTCAGCTTGCTGCACAG 0.552 28 91 --- --- --- --- PASS UGT2B11 10720 broad.mit.edu 37 4 70070204 70070204 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:70070204G>C uc003heh.2 - 5 1263 c.1254C>G c.(1252-1254)AAC>AAG p.N418K uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 418 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 TCGACATTGTGTTGAAGTCCA 0.428 77 259 --- --- --- --- PASS GC 2638 broad.mit.edu 37 4 72634150 72634150 + Silent SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:72634150C>A uc003hge.2 - 3 282 c.129G>T c.(127-129)CTG>CTT p.L43L GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Silent_p.L43L|GC_uc010iif.2_Silent_p.L62L NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 43 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GGACTAGTGACCTGAGGGGAA 0.323 21 45 --- --- --- --- PASS GC 2638 broad.mit.edu 37 4 72634151 72634151 + Splice_Site SNP C A A rs112961993 TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:72634151C>A uc003hge.2 - 3 282 c.129_splice c.e3-1 p.L43_splice GC_uc003hgd.2_Splice_Site|GC_uc010iie.2_Splice_Site_p.L43_splice|GC_uc010iif.2_Splice_Site_p.L62_splice NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GACTAGTGACCTGAGGGGAAA 0.318 21 44 --- --- --- --- PASS MRPL1 65008 broad.mit.edu 37 4 78870974 78870974 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:78870974A>G uc003hku.2 + 8 999 c.801A>G c.(799-801)ATA>ATG p.I267M MRPL1_uc010iji.1_Intron NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 267 RNA binding 0 GTGACCAGATAGCTGCCAATC 0.358 52 83 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79322022 79322022 + Silent SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:79322022A>G uc003hlb.2 + 30 4550 c.4110A>G c.(4108-4110)ACA>ACG p.T1370T FRAS1_uc003hkw.2_Silent_p.T1370T NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1369 CSPG 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ACAAGATTACACAAGACTACC 0.483 21 33 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79418102 79418102 + Silent SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:79418102C>A uc003hlb.2 + 60 9542 c.9102C>A c.(9100-9102)TCC>TCA p.S3034S FRAS1_uc003hlc.1_Silent_p.S36S NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3029 Calx-beta 5.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCACCATATCCAATGATGAAG 0.388 25 103 --- --- --- --- PASS ABCG2 9429 broad.mit.edu 37 4 89052313 89052313 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:89052313G>T uc003hrg.2 - 5 924 c.431C>A c.(430-432)GCA>GAA p.A144E ABCG2_uc003hrh.2_Missense_Mutation_p.A144E|ABCG2_uc003hrf.2_Missense_Mutation_p.A14E NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 144 ABC transporter.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CCGAAGAGCTGCTGAGAACTG 0.403 53 186 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102942683 102942683 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:102942683G>A uc003hvy.3 + 8 1493 c.1219G>A c.(1219-1221)GAC>AAC p.D407N BANK1_uc003hvx.3_Missense_Mutation_p.D392N|BANK1_uc010ill.2_Missense_Mutation_p.D274N|BANK1_uc003hvz.3_Missense_Mutation_p.D377N NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 407 ANK 2. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CCAAGAAATTGACATAAATAA 0.239 18 37 --- --- --- --- PASS TACR3 6870 broad.mit.edu 37 4 104577502 104577502 + Splice_Site SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:104577502C>G uc003hxe.1 - 3 881 c.738_splice c.e3-1 p.T246_splice NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AATATGGTAACTATGAAAAAT 0.353 24 93 --- --- --- --- PASS HSPA4L 22824 broad.mit.edu 37 4 128725004 128725004 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:128725004T>C uc003ifm.2 + 7 1137 c.884T>C c.(883-885)CTT>CCT p.L295P HSPA4L_uc010iny.1_Missense_Mutation_p.L254P|HSPA4L_uc011cgr.1_Missense_Mutation_p.L262P NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 295 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 ATGAATGACCTTGATGTTTCT 0.323 24 81 --- --- --- --- PASS GYPE 2996 broad.mit.edu 37 4 144797984 144797984 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr4:144797984G>A uc003ijj.2 - 3 217 c.161C>T c.(160-162)GCG>GTG p.A54V GYPE_uc010ion.2_Intron|GYPE_uc003ijk.3_Missense_Mutation_p.A54V NM_198682 NP_941391 P15421 GLPE_HUMAN glycophorin E precursor 54 Helical; (Potential). integral to plasma membrane 0 all_hematologic(180;0.158) ACGAGCCATCGCCCACCAATT 0.348 26 9 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26906871 26906871 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:26906871G>T uc003jgs.1 - 4 769 c.600C>A c.(598-600)AGC>AGA p.S200R CDH9_uc010iug.2_Missense_Mutation_p.S200R NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 200 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CTTGCAATATGCTATAGACCA 0.383 16 94 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33936966 33936966 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:33936966G>T uc003jic.1 + 1 478 c.121G>T c.(121-123)GCG>TCG p.A41S NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 41 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GAGTGGTAACGCGTCGCTGCA 0.667 40 159 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36038083 36038083 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:36038083C>G uc003jjz.1 - 6 1204 c.1111G>C c.(1111-1113)GGG>CGG p.G371R UGT3A2_uc011cos.1_Missense_Mutation_p.G337R|UGT3A2_uc011cot.1_Missense_Mutation_p.G69R NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 371 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTATTCTGCCCGCCGTGGGTG 0.502 34 148 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36049408 36049408 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:36049408C>T uc003jjz.1 - 4 519 c.426G>A c.(424-426)GTG>GTA p.V142V UGT3A2_uc011cos.1_Silent_p.V108V|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 142 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTTCAACTATCACCATGTCGA 0.378 19 198 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38931986 38931986 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:38931986C>T uc003jln.1 + 16 2581 c.2214C>T c.(2212-2214)TCC>TCT p.S738S OSMR_uc011cpj.1_Intron NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 738 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) CTCGTTCAGCCTCGATGCTGA 0.373 49 255 --- --- --- --- PASS ZNF131 7690 broad.mit.edu 37 5 43122223 43122223 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:43122223G>T uc011cpw.1 + 2 104 c.68G>T c.(67-69)CGA>CTA p.R23L ZNF131_uc010ivl.1_Missense_Mutation_p.R23L|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.R23L|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_RNA|ZNF131_uc010ivm.1_RNA|ZNF131_uc003jnm.2_Missense_Mutation_p.R23L NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 23 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATCCTCGACCGATTGAATGAA 0.512 39 202 --- --- --- --- PASS F2R 2149 broad.mit.edu 37 5 76029116 76029116 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:76029116T>C uc003ken.3 + 2 1331 c.1066T>C c.(1066-1068)TGT>CGT p.C356R NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 356 Helical; Name=7; (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) CTACCTCCTCTGTGTCTGTGT 0.493 87 86 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90052867 90052867 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:90052867G>T uc003kju.2 + 57 11925 c.11829G>T c.(11827-11829)CGG>CGT p.R3943R GPR98_uc003kjt.2_Silent_p.R1649R|GPR98_uc003kjv.2_Silent_p.R1543R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3943 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTGTAGTCCGGCTGGCTGGAA 0.453 36 49 --- --- --- --- PASS SLC27A6 28965 broad.mit.edu 37 5 128365396 128365396 + Missense_Mutation SNP T G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:128365396T>G uc003kuy.2 + 10 2075 c.1679T>G c.(1678-1680)ATT>AGT p.I560S SLC27A6_uc003kuz.2_Missense_Mutation_p.I560S NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 560 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TTTTTAAGAATTCAGGTAATT 0.279 41 38 --- --- --- --- PASS C5orf56 441108 broad.mit.edu 37 5 131796410 131796410 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:131796410C>T uc003kwy.1 + 4 376 c.245C>T c.(244-246)TCG>TTG p.S82L C5orf56_uc003kwz.1_Intron|C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron NM_001013717 NP_001013739 Q8N8D9 CE056_HUMAN hypothetical protein LOC441108 82 0 CCTTTTTCCTCGTCATCAACC 0.050 29 36 --- --- --- --- PASS SIL1 64374 broad.mit.edu 37 5 138362594 138362594 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:138362594C>T uc003ldm.2 - 5 558 c.541G>A c.(541-543)GAC>AAC p.D181N SIL1_uc003ldn.2_Missense_Mutation_p.D180N|SIL1_uc003ldo.2_Missense_Mutation_p.D181N|SIL1_uc003ldp.2_Missense_Mutation_p.D181N|SIL1_uc003ldq.1_Intron NM_022464 NP_071909 Q9H173 SIL1_HUMAN SIL1 protein precursor 181 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATCTGCATGTCAGTCTCAATG 0.463 Marinesco-Sj_gren_syndrome 44 44 --- --- --- --- PASS PCDHA5 56143 broad.mit.edu 37 5 140201816 140201816 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:140201816G>A uc003lhl.2 + 1 456 c.456G>A c.(454-456)CCG>CCA p.P152P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.P152P|PCDHA5_uc003lhj.1_Silent_p.P152P NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 152 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGTTTCCGCTAGAGGGCG 0.413 10 58 --- --- --- --- PASS GABRP 2568 broad.mit.edu 37 5 170239249 170239249 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:170239249A>G uc003mau.2 + 10 1508 c.1310A>G c.(1309-1311)TAC>TGC p.Y437C GABRP_uc011dev.1_3'UTR NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 437 Helical; (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGGCATACTACATGTATTTT 0.348 39 48 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176002375 176002375 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:176002375C>A uc003mem.1 + 9 782 c.716C>A c.(715-717)CCC>CAC p.P239H CDHR2_uc003men.1_Missense_Mutation_p.P239H NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 239 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GACCTTGACCCCCAGTTTGTC 0.632 40 26 --- --- --- --- PASS BTNL3 10917 broad.mit.edu 37 5 180424256 180424256 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr5:180424256C>A uc003mmr.2 + 3 569 c.441C>A c.(439-441)GAC>GAA p.D147E NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 147 Ig-like V-type.|Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GATATGTTGACGGAGGTATCC 0.498 75 31 --- --- --- --- PASS RANBP9 10048 broad.mit.edu 37 6 13711172 13711172 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:13711172T>C uc003nbb.2 - 1 625 c.566A>G c.(565-567)TAC>TGC p.Y189C NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 189 B30.2/SPRY. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) AGTACCTTTGTAGTGCACCCG 0.692 10 13 --- --- --- --- PASS JARID2 3720 broad.mit.edu 37 6 15496958 15496958 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:15496958G>A uc003nbj.2 + 7 1746 c.1502G>A c.(1501-1503)CGG>CAG p.R501Q JARID2_uc011diu.1_Missense_Mutation_p.R365Q|JARID2_uc011div.1_Missense_Mutation_p.R329Q|JARID2_uc011diw.1_Missense_Mutation_p.R463Q NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 501 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CGGCCGAAGCGGGCCACGGCC 0.642 25 33 --- --- --- --- PASS CUTA 51596 broad.mit.edu 37 6 33385345 33385345 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:33385345G>A uc003oej.1 - 2 458 c.170C>T c.(169-171)TCG>TTG p.S57L CUTA_uc003oek.1_Missense_Mutation_p.S34L|CUTA_uc003oel.1_Missense_Mutation_p.S34L|CUTA_uc003oem.1_Missense_Mutation_p.S34L|CUTA_uc003oen.1_Missense_Mutation_p.S76L|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.1_5'Flank|SYNGAP1_uc010juy.2_5'Flank NM_001014840 NP_001014840 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog isoform 57 protein localization|response to metal ion membrane enzyme binding 0 GCCGGAATCCGAGGCCGGCGA 0.647 45 150 --- --- --- --- PASS SRPK1 6732 broad.mit.edu 37 6 35837429 35837429 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:35837429C>T uc003olj.2 - 11 1364 c.1241G>A c.(1240-1242)TGT>TAT p.C414Y SRPK1_uc011dtg.1_Missense_Mutation_p.C398Y|SRPK1_uc003olh.2_Missense_Mutation_p.C307Y|SRPK1_uc003oli.2_Missense_Mutation_p.C307Y NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN SFRS protein kinase 1 414 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 TATAGGTGTACAAGAGTCTGT 0.418 9 79 --- --- --- --- PASS BYSL 705 broad.mit.edu 37 6 41899507 41899507 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:41899507C>T uc003orl.2 + 6 1243 c.907C>T c.(907-909)CGG>TGG p.R303W NM_004053 NP_004044 Q13895 BYST_HUMAN bystin 303 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TTGTACCCTCCGGGAAGCCAT 0.552 29 159 --- --- --- --- PASS HSP90AB1 3326 broad.mit.edu 37 6 44221330 44221330 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:44221330G>A uc003oxa.1 + 12 2254 c.2170G>A c.(2170-2172)GAT>AAT p.D724N HSP90AB1_uc011dvr.1_Missense_Mutation_p.D714N|HSP90AB1_uc003oxb.1_Missense_Mutation_p.D724N|HSP90AB1_uc011dvs.1_Missense_Mutation_p.D544N|HSP90AB1_uc003oxc.1_Missense_Mutation_p.D362N NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 724 TPR repeat-binding. axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGAAGAAGTCGATTAGGTTAG 0.557 OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 63 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47847001 47847001 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:47847001G>A uc011dwm.1 - 3 1613 c.1528C>T c.(1528-1530)CTA>TTA p.L510L C6orf138_uc011dwn.1_Silent_p.L274L NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 527 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 CAGTACTCTAGGGGCTCATAG 0.478 13 20 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70098745 70098745 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:70098745C>A uc003pev.3 + 32 4979 c.4531C>A c.(4531-4533)CTG>ATG p.L1511M BAI3_uc010kak.2_Missense_Mutation_p.L1511M|BAI3_uc011dxx.1_Missense_Mutation_p.L717M NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1511 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GAATTTGCCTCTGGATGTGCA 0.418 25 58 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70900022 70900022 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:70900022G>A uc003pfc.1 + 48 3148 c.3031G>A c.(3031-3033)GAT>AAT p.D1011N NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1011 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TCTTCAGGCTGATGCAGTTTC 0.284 25 87 --- --- --- --- PASS TTK 7272 broad.mit.edu 37 6 80715595 80715595 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:80715595C>G uc003pjc.2 + 2 109 c.35C>G c.(34-36)ACA>AGA p.T12R TTK_uc003pjb.3_Missense_Mutation_p.T12R NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 12 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AGAGAATTGACAATTGATTCC 0.303 23 96 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84930778 84930778 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:84930778C>T uc010kbp.2 - 3 266 c.169G>A c.(169-171)GAT>AAT p.D57N KIAA1009_uc003pkj.3_5'UTR|KIAA1009_uc003pkk.2_Missense_Mutation_p.D57N NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 57 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTACCATCATCTTTAAAA 0.308 41 111 --- --- --- --- PASS SPACA1 81833 broad.mit.edu 37 6 88768510 88768510 + Silent SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:88768510A>G uc003pmn.2 + 4 561 c.444A>G c.(442-444)AAA>AAG p.K148K NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor 148 Extracellular (Potential). integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) ATCGTTTCAAATATATGTGGA 0.343 11 79 --- --- --- --- PASS ANKRD6 22881 broad.mit.edu 37 6 90327746 90327746 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:90327746C>T uc003pni.3 + 9 1129 c.788C>T c.(787-789)CCC>CTC p.P263L ANKRD6_uc003pne.3_Missense_Mutation_p.P263L|ANKRD6_uc003pnf.3_Missense_Mutation_p.P263L|ANKRD6_uc011dzy.1_Missense_Mutation_p.P263L|ANKRD6_uc010kcd.2_Intron|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 263 ANK 8. protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) ACTAAAGCTCCCCAGGTAGGA 0.517 59 84 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128176300 128176300 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:128176300C>A uc003qbi.2 - 3 444 c.125G>T c.(124-126)TGT>TTT p.C42F THEMIS_uc010kfa.2_5'UTR|THEMIS_uc011ebt.1_Missense_Mutation_p.C42F|THEMIS_uc010kfb.2_Missense_Mutation_p.C7F NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 42 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 TGTTGAAAAACAGCATTCATT 0.318 15 65 --- --- --- --- PASS MTRF1L 54516 broad.mit.edu 37 6 153316325 153316325 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:153316325C>G uc003qpi.3 - 3 574 c.469G>C c.(469-471)GCT>CCT p.A157P MTRF1L_uc003qpl.3_Missense_Mutation_p.A157P|MTRF1L_uc011efa.1_Intron|MTRF1L_uc003qpj.3_Missense_Mutation_p.A15P|MTRF1L_uc003qpk.3_Intron NM_019041 NP_061914 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 157 mitochondrion translation release factor activity, codon specific 0 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) TTAAATGCAGCATATTGCTGA 0.353 18 40 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160412337 160412337 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:160412337C>G uc003qta.2 + 2 419 c.271C>G c.(271-273)CGC>GGC p.R91G NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 91 1.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CTTGAAGACACGCACTTATCA 0.378 43 86 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 160999556 160999556 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:160999556T>A uc003qtl.2 - 28 4590 c.4470A>T c.(4468-4470)CAA>CAT p.Q1490H NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3998 Kringle 35. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ATTTCTTACCTTGTTCAGAAG 0.483 29 149 --- --- --- --- PASS C6orf118 168090 broad.mit.edu 37 6 165715563 165715563 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr6:165715563G>C uc003qum.3 - 2 284 c.248C>G c.(247-249)GCC>GGC p.A83G C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 83 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GGGCCGGTGGGCATTGGGCCA 0.637 36 88 --- --- --- --- PASS PRKAR1B 5575 broad.mit.edu 37 7 720311 720311 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:720311G>A uc003siu.1 - 4 336 c.230C>T c.(229-231)TCC>TTC p.S77F PRKAR1B_uc003siv.2_Missense_Mutation_p.S77F|PRKAR1B_uc003siw.1_Missense_Mutation_p.S77F NM_002735 NP_002726 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type 77 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CTCATCATGGGAGTCCGACTG 0.602 22 109 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4009032 4009032 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:4009032G>A uc003smx.2 + 11 1829 c.1690G>A c.(1690-1692)GCA>ACA p.A564T NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 564 Ig-like C2-type 5. 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) CTCCCTGAATGCATCGGCCAC 0.577 78 98 --- --- --- --- PASS RADIL 55698 broad.mit.edu 37 7 4855864 4855864 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:4855864T>C uc003snj.1 - 8 2134 c.1961A>G c.(1960-1962)GAC>GGC p.D654G RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.D159G|RADIL_uc011jwc.1_Missense_Mutation_p.D414G|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 654 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CTCACCCCTGTCGAGGAGCTG 0.667 15 54 --- --- --- --- PASS PAPOLB 56903 broad.mit.edu 37 7 4901019 4901019 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:4901019C>T uc003snk.2 - 1 607 c.423G>A c.(421-423)CAG>CAA p.Q141Q RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 140 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TCACTTCCTCCTGTAGTTTCA 0.413 28 40 --- --- --- --- PASS RADIL 55698 broad.mit.edu 37 7 4917420 4917420 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:4917420G>A uc003snj.1 - 2 524 c.351C>T c.(349-351)GGC>GGT p.G117G RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 117 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CGCCGGCTTGGCCCACCACGT 0.672 37 68 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103206771 103206771 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:103206771G>A uc003vca.2 - 33 4996 c.4836C>T c.(4834-4836)GGC>GGT p.G1612G RELN_uc010liz.2_Silent_p.G1612G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1612 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) AATCTATAGAGCCATCAAATT 0.408 60 112 --- --- --- --- PASS COPG2 26958 broad.mit.edu 37 7 130295938 130295938 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:130295938C>A uc003vqh.1 - 9 713 c.623G>T c.(622-624)CGA>CTA p.R208L NM_012133 NP_036265 Q9UBF2 COPG2_HUMAN coatomer protein complex, subunit gamma 2 208 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat protein binding|structural molecule activity 0 Melanoma(18;0.0435) AACAGCAAGTCGATCATTCTT 0.373 9 66 --- --- --- --- PASS UBN2 254048 broad.mit.edu 37 7 138943252 138943252 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:138943252G>T uc011kqr.1 + 4 682 c.682G>T c.(682-684)GCT>TCT p.A228S UBN2_uc003vuv.2_5'UTR NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 228 ovary(1)|skin(1) 2 ATTAGTTCCCGCTTCTCTAAC 0.353 32 102 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141765165 141765165 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:141765165G>T uc003vwy.2 + 38 4569 c.4515G>T c.(4513-4515)GGG>GGT p.G1505G NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1505 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GACAGCGAGGGGTCGTCATCA 0.592 6 18 --- --- --- --- PASS OR2A5 393046 broad.mit.edu 37 7 143747998 143747998 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:143747998C>T uc011ktw.1 + 1 504 c.504C>T c.(502-504)TTC>TTT p.F168F NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) GGCTGCCCTTCTGTGGGCCCC 0.547 96 254 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146825877 146825877 + Silent SNP C A A rs142122012 TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:146825877C>A uc003weu.1 + 7 1548 c.1032C>A c.(1030-1032)GGC>GGA p.G344G NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 344 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTACAATGGCGTCAACATTA 0.413 HNSCC(39;0.1) 89 183 --- --- --- --- PASS GIMAP4 55303 broad.mit.edu 37 7 150269805 150269805 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr7:150269805A>G uc003whl.2 + 3 729 c.647A>G c.(646-648)AAC>AGC p.N216S GIMAP4_uc011kuu.1_Missense_Mutation_p.N77S|GIMAP4_uc011kuv.1_Missense_Mutation_p.N230S NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 216 Potential. GTP binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGAGGGAGAACAAGGAAGGC 0.562 45 112 --- --- --- --- PASS EPHX2 2053 broad.mit.edu 37 8 27361174 27361174 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:27361174C>T uc003xfu.2 + 3 321 c.240C>T c.(238-240)GTC>GTT p.V80V EPHX2_uc010lut.1_Silent_p.V80V|EPHX2_uc010luu.2_Silent_p.V80V|EPHX2_uc010luv.2_Silent_p.V14V|EPHX2_uc003xfv.2_Silent_p.V27V|EPHX2_uc010luw.2_Silent_p.V14V|EPHX2_uc011lam.1_5'Flank NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 80 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) CCGCTAAAGTCTGCCTCCCCA 0.438 11 24 --- --- --- --- PASS KIF13B 23303 broad.mit.edu 37 8 29006249 29006249 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:29006249C>A uc003xhh.3 - 16 1717 c.1658G>T c.(1657-1659)CGA>CTA p.R553L KIF13B_uc003xhj.2_Missense_Mutation_p.R450L|KIF13B_uc010lvf.1_Missense_Mutation_p.R489L NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 553 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CTCATCCTCTCGTTCTGCTTT 0.398 77 75 --- --- --- --- PASS WRN 7486 broad.mit.edu 37 8 31015036 31015036 + Silent SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:31015036C>G uc003xio.3 + 33 4760 c.3972C>G c.(3970-3972)CCC>CCG p.P1324P WRN_uc010lvk.2_Silent_p.P791P NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1324 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GAAACCCTCCCGTCAACTCAG 0.473 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 21 27 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35542150 35542150 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:35542150T>A uc003xjr.1 + 6 1130 c.802T>A c.(802-804)TGT>AGT p.C268S UNC5D_uc003xjs.1_Missense_Mutation_p.C263S|UNC5D_uc003xjt.1_Missense_Mutation_p.C37S NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 268 TSP type-1 1.|Extracellular (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CAATGTTCGCTGTGGTAGAGG 0.507 70 81 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39602390 39602390 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:39602390G>C uc003xnj.2 - 20 2272 c.2197C>G c.(2197-2199)CCT>GCT p.P733A ADAM2_uc003xnk.2_Missense_Mutation_p.P714A|ADAM2_uc011lck.1_Missense_Mutation_p.P670A|ADAM2_uc003xnl.2_Missense_Mutation_p.P577A NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 733 Cytoplasmic (Potential). cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TACCCTTTAGGTTCACTCTCA 0.264 72 466 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87235224 87235224 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:87235224G>C uc003ydq.1 - 2 892 c.794C>G c.(793-795)ACA>AGA p.T265R SLC7A13_uc003ydr.1_Missense_Mutation_p.T256R NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 265 Extracellular (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 TTCCCTGGGTGTCAGAACAGT 0.393 35 76 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110457007 110457007 + Missense_Mutation SNP G A A rs116863919 by1000genomes TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:110457007G>A uc003yne.2 + 38 5013 c.4909G>A c.(4909-4911)GTC>ATC p.V1637I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1637 Extracellular (Potential).|IPT/TIG 8. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CACTTTGACTGTCTACAACCT 0.423 HNSCC(38;0.096) 38 344 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135524758 135524758 + Silent SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:135524758C>A uc003yup.2 - 14 3496 c.3321G>T c.(3319-3321)GCG>GCT p.A1107A ZFAT_uc011ljj.1_Silent_p.A226A|ZFAT_uc003yun.2_Silent_p.A1095A|ZFAT_uc003yuo.2_Silent_p.A1095A|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A1095A|ZFAT_uc010mej.2_Silent_p.A1045A NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 1107 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GCGCGGCCACCGCTGCCTGTG 0.532 65 339 --- --- --- --- PASS ZNF623 9831 broad.mit.edu 37 8 144732380 144732380 + Missense_Mutation SNP T G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:144732380T>G uc003yzd.2 + 1 427 c.338T>G c.(337-339)CTT>CGT p.L113R ZNF623_uc011lkp.1_Missense_Mutation_p.L73R|ZNF623_uc003yzc.2_Missense_Mutation_p.L73R NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTTCTTCTGCTTCAGAGAGAG 0.473 29 211 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144887289 144887289 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:144887289C>A uc003yzp.1 - 19 2670 c.2663G>T c.(2662-2664)GGT>GTT p.G888V SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.G888V NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 888 PDZ 2.|Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACCGCATCACCAGCCCTGTA 0.711 10 26 --- --- --- --- PASS C8orf33 65265 broad.mit.edu 37 8 146278499 146278499 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr8:146278499G>A uc003zfc.3 + 3 424 c.370G>A c.(370-372)GGC>AGC p.G124S C8orf33_uc003zfd.2_RNA NM_023080 NP_075568 Q9H7E9 CH033_HUMAN hypothetical protein LOC65265 124 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) ACTGGAGCTGGGCCTCAAGAG 0.572 22 84 --- --- --- --- PASS RGP1 9827 broad.mit.edu 37 9 35752037 35752037 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr9:35752037C>T uc011lpf.1 + 8 988 c.847C>T c.(847-849)CAT>TAT p.H283Y GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.H323Y NM_001080496 NP_001073965 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog 283 ovary(1) 1 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTCTGTGTCACATGTGACTCA 0.587 19 19 --- --- --- --- PASS PGM5 5239 broad.mit.edu 37 9 71094442 71094442 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr9:71094442C>T uc004agr.2 + 8 1497 c.1268C>T c.(1267-1269)GCC>GTC p.A423V NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 423 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 GATCACTGGGCCAAATTTGGC 0.527 44 72 --- --- --- --- PASS NAA35 60560 broad.mit.edu 37 9 88633621 88633621 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr9:88633621C>G uc004aoi.3 + 21 2059 c.1922C>G c.(1921-1923)TCT>TGT p.S641C NAA35_uc004aoj.3_Missense_Mutation_p.S641C NM_024635 NP_078911 Q5VZE5 NAA35_HUMAN corneal wound healing-related protein 641 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane skin(2)|central_nervous_system(1) 3 TAGGAAATGTCTGACCTCAAT 0.328 46 158 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15648376 15648376 + Missense_Mutation SNP A C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:15648376A>C uc001ioc.1 - 18 1810 c.1810T>G c.(1810-1812)TTG>GTG p.L604V ITGA8_uc010qcb.1_Missense_Mutation_p.L589V NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 604 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 CTGTAATTCAAACTAATGTTG 0.363 34 68 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25886839 25886839 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:25886839C>A uc001isj.2 + 11 2344 c.2284C>A c.(2284-2286)CCA>ACA p.P762T GPR158_uc001isk.2_Missense_Mutation_p.P137T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 762 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TACGGAGATCCCAGAGACAGT 0.547 89 115 --- --- --- --- PASS ZNF33B 7582 broad.mit.edu 37 10 43090054 43090054 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:43090054G>A uc001jaf.1 - 5 459 c.344C>T c.(343-345)ACT>ATT p.T115I ZNF33B_uc009xmg.1_Missense_Mutation_p.T115I|ZNF33B_uc001jae.1_RNA|ZNF33B_uc001jag.1_Missense_Mutation_p.T3I|ZNF33B_uc001jad.2_RNA NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 115 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTGTTCCTTAGTCAGCATTTC 0.368 45 88 --- --- --- --- PASS TMEM72 643236 broad.mit.edu 37 10 45430567 45430567 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:45430567C>T uc001jbn.2 + 5 1010 c.813C>T c.(811-813)GCC>GCT p.A271A uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.A153A NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 271 integral to membrane 0 CTCTTACAGCCACCGGCCTGT 0.602 18 37 --- --- --- --- PASS ERCC6 2074 broad.mit.edu 37 10 50732520 50732520 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:50732520C>G uc001jhs.3 - 5 1110 c.956G>C c.(955-957)AGA>ACA p.R319T PGBD3_uc001jht.2_5'Flank|PGBD3_uc009xoe.2_Missense_Mutation_p.R319T|PGBD3_uc001jhu.2_Missense_Mutation_p.R319T NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 319 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GGACAGAACTCTGGCTTTCTT 0.463 Direct_reversal_of_damage|NER 40 186 --- --- --- --- PASS DKK1 22943 broad.mit.edu 37 10 54074381 54074381 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:54074381G>T uc001jjr.2 + 1 341 c.187G>T c.(187-189)GCG>TCG p.A63S uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 63 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 AGTCAGCGCCGCGCCGGGAAT 0.622 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 56 --- --- --- --- PASS ADO 84890 broad.mit.edu 37 10 64565180 64565180 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:64565180C>T uc001jmg.2 + 1 665 c.361C>T c.(361-363)CTC>TTC p.L121F NM_032804 NP_116193 Q96SZ5 AEDO_HUMAN 2-aminoethanethiol (cysteamine) dioxygenase 121 cysteamine dioxygenase activity|metal ion binding 0 Prostate(12;0.0297)|all_hematologic(501;0.228) GCACGGCATGCTCAAGGTGCT 0.672 6 7 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68686994 68686994 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:68686994G>T uc001jmz.1 + 2 870 c.320G>T c.(319-321)GGA>GTA p.G107V CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.G107V NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 107 Extracellular (Potential).|LRR 2. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GCTTTTAATGGAATACGCAGA 0.363 96 141 --- --- --- --- PASS GHITM 27069 broad.mit.edu 37 10 85901279 85901279 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:85901279G>T uc001kcs.1 + 2 227 c.23G>T c.(22-24)TGT>TTT p.C8F GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 8 apoptosis integral to membrane|mitochondrial inner membrane 0 AGGCTGGTGTGTCTCCGGACA 0.468 32 115 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96602608 96602608 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:96602608G>C uc010qnz.1 + 7 976 c.976G>C c.(976-978)GAG>CAG p.E326Q CYP2C19_uc010qny.1_Missense_Mutation_p.E304Q NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 326 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AGTCCAGGAAGAGATTGAACG 0.483 56 98 --- --- --- --- PASS PPRC1 23082 broad.mit.edu 37 10 103898671 103898671 + Silent SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:103898671A>G uc001kum.2 + 4 564 c.525A>G c.(523-525)CCA>CCG p.P175P PPRC1_uc001kun.2_Silent_p.P55P|PPRC1_uc010qqj.1_Silent_p.P175P|PPRC1_uc009xxa.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GGACACCCCCAGAACGTGACC 0.542 17 65 --- --- --- --- PASS TRIM8 81603 broad.mit.edu 37 10 104404661 104404661 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:104404661G>A uc001kvz.2 + 1 410 c.287G>A c.(286-288)CGC>CAC p.R96H NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 96 B box-type 1. cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GTGTTCTGCCGCCGCGGCCCC 0.701 3 2 --- --- --- --- PASS C10orf120 399814 broad.mit.edu 37 10 124457280 124457280 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr10:124457280C>A uc001lgn.2 - 3 1009 c.977G>T c.(976-978)CGC>CTC p.R326L NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 326 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) TTTACGCATGCGCTCTTTCCA 0.438 49 102 --- --- --- --- PASS OR51A4 401666 broad.mit.edu 37 11 4968319 4968319 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:4968319G>T uc010qys.1 - 1 12 c.12C>A c.(10-12)ATC>ATA p.I4I NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGATGTGTTGATAATGGACA 0.383 37 39 --- --- --- --- PASS OR52A5 390054 broad.mit.edu 37 11 5153430 5153430 + Missense_Mutation SNP A C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:5153430A>C uc010qyx.1 - 1 443 c.443T>G c.(442-444)CTT>CGT p.L148R NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TGTCACCCCAAGTCCAATATG 0.473 12 60 --- --- --- --- PASS OR56A4 120793 broad.mit.edu 37 11 6023986 6023986 + Silent SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:6023986G>C uc010qzv.1 - 1 393 c.393C>G c.(391-393)ACC>ACG p.T131T NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGGATGACGGTGAGGCAGA 0.572 34 46 --- --- --- --- PASS ST5 6764 broad.mit.edu 37 11 8751741 8751741 + Nonsense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:8751741C>A uc001mgt.2 - 3 1282 c.1096G>T c.(1096-1098)GGA>TGA p.G366* ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Nonsense_Mutation_p.G366*|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Nonsense_Mutation_p.G366* NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 366 Pro-rich. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GGGCTATTTCCAGGGGTCCCG 0.652 44 56 --- --- --- --- PASS KIF18A 81930 broad.mit.edu 37 11 28080680 28080680 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:28080680T>C uc001msc.2 - 13 1923 c.1741A>G c.(1741-1743)AGA>GGA p.R581G NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 581 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 TATTGTTTTCTTAGGGTTGGA 0.328 92 185 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033239 30033239 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:30033239C>A uc001msk.2 - 2 2139 c.987G>T c.(985-987)TTG>TTT p.L329F NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 329 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TAAACTCAGGCAAGGTTTCCA 0.512 63 129 --- --- --- --- PASS C1QTNF4 114900 broad.mit.edu 37 11 47612180 47612180 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:47612180G>T uc001ngc.2 - 2 450 c.183C>A c.(181-183)TTC>TTA p.F61L NM_031909 NP_114115 Q9BXJ3 C1QT4_HUMAN C1q and tumor necrosis factor related protein 4 61 C1q 1. extracellular region 0 TGGCCACATCGAAGTCGCCCC 0.672 8 19 --- --- --- --- PASS OR4A5 81318 broad.mit.edu 37 11 51412301 51412301 + Missense_Mutation SNP G T T rs150350902 TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:51412301G>T uc001nhi.1 - 1 95 c.95C>A c.(94-96)ACA>AAA p.T32K NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) CACCAAGTATGTGAGTAAAAA 0.433 16 56 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135858 55135858 + Silent SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:55135858C>A uc010rif.1 + 1 499 c.499C>A c.(499-501)CGA>AGA p.R167R NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 167 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CATGAATCGTCGAGTCTGTGT 0.438 77 241 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541616 55541616 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:55541616G>T uc010ril.1 + 1 703 c.703G>T c.(703-705)GGG>TGG p.G235W NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) ATCTGCAAGTGGGCGCCAGAA 0.408 53 82 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890035 55890035 + Missense_Mutation SNP T G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:55890035T>G uc001nii.1 + 1 187 c.187T>G c.(187-189)TTC>GTC p.F63V NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CATGTATTTTTTCCTTACTCA 0.423 36 459 --- --- --- --- PASS OR5M11 219487 broad.mit.edu 37 11 56310580 56310580 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:56310580C>A uc010rjl.1 - 1 154 c.154G>T c.(154-156)GAC>TAC p.D52Y NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGCGAGAGTCCAGTCTCATT 0.468 54 149 --- --- --- --- PASS OR5AP2 338675 broad.mit.edu 37 11 56409179 56409179 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:56409179G>T uc001njb.1 - 1 737 c.737C>A c.(736-738)ACC>AAC p.T246N NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 AGAGGCACAGGTGGAGAAGGC 0.468 40 122 --- --- --- --- PASS OR1S2 219958 broad.mit.edu 37 11 57971013 57971013 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:57971013A>G uc010rkb.1 - 1 641 c.641T>C c.(640-642)ATT>ACT p.I214T NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) TAAACCCACAATAAACAACAC 0.448 30 77 --- --- --- --- PASS OR5A2 219981 broad.mit.edu 37 11 59190101 59190101 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:59190101C>A uc010rkt.1 - 1 326 c.326G>T c.(325-327)GGG>GTG p.G109V NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCAGTCAGCCCCATCCCACA 0.498 37 48 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68204451 68204451 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:68204451C>T uc001ont.2 + 19 4170 c.4095C>T c.(4093-4095)TCC>TCT p.S1365S LRP5_uc009ysg.2_Silent_p.S775S NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1365 LDL-receptor class A 3.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 TCGACGGCTCCGACGAGCTCA 0.627 12 84 --- --- --- --- PASS KRTAP5-8 57830 broad.mit.edu 37 11 71249616 71249616 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:71249616G>T uc001oqr.1 + 1 546 c.515G>T c.(514-516)TGT>TTT p.C172F NM_021046 NP_066384 O75690 KRA58_HUMAN keratin associated protein 5-8 172 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis 0 AAGCCCTGCTGTTCCCAGTCC 0.587 72 144 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92257851 92257851 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:92257851G>C uc001pdj.3 + 2 3361 c.3344G>C c.(3343-3345)TGG>TCG p.W1115S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1115 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGTCATACTGGCTAACAGTG 0.483 TCGA Ovarian(4;0.039) 8 67 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92715453 92715453 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:92715453T>A uc001pdk.1 + 2 1167 c.1064T>A c.(1063-1065)GTG>GAG p.V355E NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 355 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) ATCATTGGTGTGCAGCACCAG 0.582 22 45 --- --- --- --- PASS MED17 9440 broad.mit.edu 37 11 93529669 93529669 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:93529669A>G uc001pem.3 + 7 1381 c.1106A>G c.(1105-1107)TAT>TGT p.Y369C NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 369 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GACCACCTTTATGTCCTAGAG 0.393 40 154 --- --- --- --- PASS NCAM1 4684 broad.mit.edu 37 11 113102895 113102895 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:113102895C>G uc009yyq.1 + 12 1662 c.968C>G c.(967-969)GCC>GGC p.A323G NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 415 Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) ATTGCAGATGCCCCAAAGCTA 0.532 11 29 --- --- --- --- PASS ZBTB16 7704 broad.mit.edu 37 11 113934218 113934218 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:113934218A>G uc001pop.2 + 2 460 c.196A>G c.(196-198)AAT>GAT p.N66D ZBTB16_uc001poo.1_Missense_Mutation_p.N66D|ZBTB16_uc001poq.2_Missense_Mutation_p.N66D NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 66 BTB. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CTTCCACCGCAATAGTCAACA 0.542 23 56 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810646 123810646 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:123810646G>A uc001pzk.1 + 1 323 c.323G>A c.(322-324)GGA>GAA p.G108E NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CACTTCATTGGAGGCATCAAG 0.498 32 106 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124252379 124252379 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:124252379G>A uc010sai.1 - 1 861 c.861C>T c.(859-861)CTC>CTT p.L287L NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AACTGTAGATGAGGGGATTGA 0.378 78 126 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124749437 124749437 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:124749437G>T uc001qbc.2 + 25 3954 c.3762G>T c.(3760-3762)AAG>AAT p.K1254N ROBO3_uc001qbd.2_Missense_Mutation_p.K179N|ROBO3_uc010sar.1_Missense_Mutation_p.K303N|ROBO3_uc001qbe.2_Missense_Mutation_p.K179N|ROBO3_uc001qbf.1_Missense_Mutation_p.K138N NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1254 Cytoplasmic (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) AGAAACCCAAGGCTCTTCCCT 0.602 18 25 --- --- --- --- PASS ST3GAL4 6484 broad.mit.edu 37 11 126278334 126278334 + Silent SNP A C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:126278334A>C uc001qds.2 + 8 789 c.570A>C c.(568-570)GTA>GTC p.V190V ST3GAL4_uc001qdt.2_Silent_p.V186V|ST3GAL4_uc009zcc.2_Silent_p.V26V|ST3GAL4_uc009zcd.2_Silent_p.V179V|ST3GAL4_uc001qdu.2_Silent_p.V186V|ST3GAL4_uc001qdv.2_Silent_p.V190V|ST3GAL4_uc009zce.2_Silent_p.V186V|ST3GAL4_uc001qdw.2_Silent_p.V179V|ST3GAL4_uc001qdx.1_Silent_p.V147V|ST3GAL4_uc001qdy.2_Silent_p.V26V|ST3GAL4_uc001qdz.2_Silent_p.V26V NM_006278 NP_006269 Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 190 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) TCGTCCTGGTAGCTTTCAAGG 0.562 26 75 --- --- --- --- PASS ZBTB44 29068 broad.mit.edu 37 11 130106942 130106942 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr11:130106942C>A uc001qga.2 - 5 1708 c.1314G>T c.(1312-1314)AGG>AGT p.R438S ZBTB44_uc001qgb.3_Missense_Mutation_p.R438S|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qfz.2_Missense_Mutation_p.R438S NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 438 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) GCGAGTAAGCCCTGGTGAACT 0.388 46 81 --- --- --- --- PASS ADIPOR2 79602 broad.mit.edu 37 12 1895206 1895206 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:1895206G>A uc001qjm.2 + 8 1326 c.1129G>A c.(1129-1131)GGC>AGC p.G377S ADIPOR2_uc001qjn.2_Missense_Mutation_p.G377S NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 377 Extracellular (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) TTTCATGATCGGCGGGGGCTG 0.537 149 103 --- --- --- --- PASS EFCAB4B 84766 broad.mit.edu 37 12 3782628 3782628 + Nonsense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:3782628C>A uc001qmj.2 - 7 1227 c.655G>T c.(655-657)GAG>TAG p.E219* EFCAB4B_uc010sen.1_Nonsense_Mutation_p.E219*|EFCAB4B_uc010seo.1_Nonsense_Mutation_p.E219*|EFCAB4B_uc001qmi.1_RNA NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 219 Potential. activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) AGGGCACACTCCAGTTCATTC 0.478 78 77 --- --- --- --- PASS FGF23 8074 broad.mit.edu 37 12 4479706 4479706 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:4479706G>A uc001qmq.1 - 3 705 c.559C>T c.(559-561)CGG>TGG p.R187W NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 187 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) AGGGGGTCCCGCTCCGAGTCG 0.682 39 35 --- --- --- --- PASS FGF6 2251 broad.mit.edu 37 12 4543478 4543478 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:4543478T>A uc001qmr.1 - 3 574 c.530A>T c.(529-531)CAA>CTA p.Q177L NM_020996 NP_066276 P10767 FGF6_HUMAN fibroblast growth factor 6 precursor 177 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity lung(2)|ovary(1) 3 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) GTAGGTCCCTTGGTACAAGTC 0.512 31 156 --- --- --- --- PASS CHD4 1108 broad.mit.edu 37 12 6703741 6703741 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:6703741C>A uc001qpo.2 - 15 2361 c.2197G>T c.(2197-2199)GGC>TGC p.G733C CHD4_uc001qpn.2_Missense_Mutation_p.G726C|CHD4_uc001qpp.2_Missense_Mutation_p.G730C NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 733 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CAATTCAGGCCCTCCATTTGA 0.522 22 123 --- --- --- --- PASS FAM90A1 55138 broad.mit.edu 37 12 8374731 8374731 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:8374731C>G uc001qui.2 - 7 1641 c.1082G>C c.(1081-1083)CGG>CCG p.R361P FAM90A1_uc001quh.2_Missense_Mutation_p.R361P NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 361 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) CGGAGGCTGCCGGTCGCCGCT 0.667 31 29 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21196275 21196275 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:21196275C>T uc010sin.1 + 6 594 c.594C>T c.(592-594)ATC>ATT p.I198I SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.I245I NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 198 membrane transporter activity 0 TAGGCACTATCAGGATAACTC 0.373 82 150 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41587941 41587941 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:41587941G>A uc010skn.1 + 3 265 c.197G>A c.(196-198)GGA>GAA p.G66E NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 265 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTAGAAAATGGACCTGCTGAC 0.338 19 32 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48380194 48380194 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:48380194G>A uc001rqu.2 - 23 1633 c.1452C>T c.(1450-1452)CCC>CCT p.P484P COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.P415P NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 484 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTTCACCAGCGGGTCCAGGGG 0.612 6 6 --- --- --- --- PASS TUBA1C 84790 broad.mit.edu 37 12 49666042 49666042 + Nonsense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:49666042C>T uc001rtt.1 + 4 482 c.382C>T c.(382-384)CAG>TAG p.Q128* TUBA1C_uc001rts.2_Nonsense_Mutation_p.Q93*|TUBA1C_uc010smh.1_Nonsense_Mutation_p.Q198* NM_032704 NP_116093 Q9BQE3 TBA1C_HUMAN tubulin alpha 6 128 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 GCAGGCTGACCAGTGCACCGG 0.438 21 99 --- --- --- --- PASS ACCN2 41 broad.mit.edu 37 12 50471005 50471005 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:50471005C>T uc001rvw.2 + 4 797 c.568C>T c.(568-570)CGC>TGC p.R190C ACCN2_uc001rvv.2_Missense_Mutation_p.R190C|ACCN2_uc009zln.2_Translation_Start_Site|ACCN2_uc009zlo.2_Missense_Mutation_p.R190C NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 190 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) GGTCTTCACACGCTATGGAAA 0.597 23 158 --- --- --- --- PASS SLC4A8 9498 broad.mit.edu 37 12 51851168 51851168 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:51851168A>T uc001rys.1 + 6 786 c.608A>T c.(607-609)GAC>GTC p.D203V SLC4A8_uc010sni.1_Missense_Mutation_p.D150V|SLC4A8_uc001rym.2_Missense_Mutation_p.D150V|SLC4A8_uc001ryn.2_Missense_Mutation_p.D150V|SLC4A8_uc001ryo.2_Missense_Mutation_p.D150V|SLC4A8_uc001ryp.1_Missense_Mutation_p.D150V|SLC4A8_uc010snj.1_Missense_Mutation_p.D230V|SLC4A8_uc001ryq.3_Missense_Mutation_p.D203V|SLC4A8_uc001ryr.2_Missense_Mutation_p.D203V|SLC4A8_uc010snk.1_Missense_Mutation_p.D150V NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 203 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) CTGTCCAGTGACCTGAATGAC 0.463 19 75 --- --- --- --- PASS TENC1 23371 broad.mit.edu 37 12 53449424 53449424 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:53449424G>C uc001sbp.2 + 9 781 c.646G>C c.(646-648)GAG>CAG p.E216Q uc001sbk.1_5'Flank|TENC1_uc001sbl.2_Missense_Mutation_p.E92Q|TENC1_uc001sbm.2_Missense_Mutation_p.E226Q|TENC1_uc001sbn.2_Missense_Mutation_p.E226Q|TENC1_uc001sbo.1_Missense_Mutation_p.E216Q|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 216 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 CAAAGCCATGGAGACATGGCT 0.607 36 124 --- --- --- --- PASS OR10P1 121130 broad.mit.edu 37 12 56030764 56030764 + Missense_Mutation SNP T G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:56030764T>G uc010spq.1 + 1 89 c.89T>G c.(88-90)GTG>GGG p.V30G NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 CTGTTCTGGGTGGTGCTTCTG 0.577 37 158 --- --- --- --- PASS ESYT1 23344 broad.mit.edu 37 12 56522358 56522358 + Silent SNP C T T rs80169445 by1000genomes TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:56522358C>T uc001sjq.2 + 1 305 c.255C>T c.(253-255)CTC>CTT p.L85L ESYT1_uc001sjr.2_Silent_p.L85L NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 85 integral to membrane ovary(4)|skin(1) 5 TCTTCGGCCTCGCCCTCTACC 0.632 16 14 --- --- --- --- PASS ACAD10 80724 broad.mit.edu 37 12 112174718 112174718 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:112174718C>T uc001tsq.2 + 12 1824 c.1624C>T c.(1624-1626)CCT>TCT p.P542S ACAD10_uc001tsp.2_Missense_Mutation_p.P542S|ACAD10_uc009zvx.2_Missense_Mutation_p.P573S|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 542 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 AATGGGGCTCCCTCCCACTGA 0.483 25 96 --- --- --- --- PASS ACAD10 80724 broad.mit.edu 37 12 112184962 112184962 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:112184962G>A uc001tsq.2 + 15 2566 c.2366G>A c.(2365-2367)CGC>CAC p.R789H ACAD10_uc001tsp.2_Missense_Mutation_p.R789H|ACAD10_uc009zvx.2_Missense_Mutation_p.R820H|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 789 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 GGGAAAGCCCGCTCCTGTTTT 0.637 18 48 --- --- --- --- PASS HSPB8 26353 broad.mit.edu 37 12 119617367 119617367 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:119617367G>C uc001txb.2 + 1 773 c.250G>C c.(250-252)GAG>CAG p.E84Q HSPB8_uc001txc.2_Missense_Mutation_p.E84Q NM_014365 NP_055180 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 84 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGCCTGCCGAGGGCAGGAC 0.657 12 24 --- --- --- --- PASS CAMKK2 10645 broad.mit.edu 37 12 121686468 121686468 + Nonsense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:121686468C>A uc001tzu.2 - 14 1517 c.1393G>T c.(1393-1395)GAA>TAA p.E465* CAMKK2_uc001tzt.2_Nonsense_Mutation_p.E465*|CAMKK2_uc001tzv.2_Nonsense_Mutation_p.E465*|CAMKK2_uc001tzw.2_Intron|CAMKK2_uc001tzx.2_Nonsense_Mutation_p.E465*|CAMKK2_uc001tzy.2_Intron|CAMKK2_uc001tzz.1_Nonsense_Mutation_p.E252*|CAMKK2_uc001uaa.1_Nonsense_Mutation_p.E465*|CAMKK2_uc001uab.2_Nonsense_Mutation_p.E465*|CAMKK2_uc001uac.2_Intron NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase 465 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCAGTCACTTCGACCAGCGTG 0.612 49 136 --- --- --- --- PASS WDR66 144406 broad.mit.edu 37 12 122359576 122359576 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr12:122359576C>T uc009zxk.2 + 2 507 c.365C>T c.(364-366)TCA>TTA p.S122L NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 122 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TCAATCACATCAGGAATTTTC 0.303 37 86 --- --- --- --- PASS RASL11A 387496 broad.mit.edu 37 13 27847445 27847445 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr13:27847445C>G uc001urd.1 + 4 1161 c.543C>G c.(541-543)AAC>AAG p.N181K NM_206827 NP_996563 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 181 Small GTPase-like. positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(1) 1 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) CTAGCGAAAACTACGAAGATG 0.527 16 36 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28623578 28623578 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr13:28623578A>G uc001urw.2 - 8 1061 c.979T>C c.(979-981)TAC>CAC p.Y327H FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.Y327H NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 327 Extracellular (Potential).|Ig-like C2-type. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CAAGTGTAGTATCCGGTGTCG 0.408 Mis|O AML|ALL 171 95 --- --- --- --- PASS STARD13 90627 broad.mit.edu 37 13 33684169 33684169 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr13:33684169G>T uc001uuw.2 - 12 3014 c.2888C>A c.(2887-2889)CCC>CAC p.P963H STARD13_uc001uuu.2_Missense_Mutation_p.P955H|STARD13_uc001uuv.2_Missense_Mutation_p.P845H|STARD13_uc001uux.2_Missense_Mutation_p.P928H|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 963 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GACCACTGAGGGGGGTGCTTC 0.577 OREG0022359 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 41 --- --- --- --- PASS AKAP11 11215 broad.mit.edu 37 13 42875329 42875329 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr13:42875329C>G uc001uys.1 + 8 2622 c.2447C>G c.(2446-2448)TCT>TGT p.S816C NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 816 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AATGGTGATTCTGCCCAAGTG 0.408 41 89 --- --- --- --- PASS ZC3H13 23091 broad.mit.edu 37 13 46549424 46549424 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr13:46549424T>A uc010tfw.1 - 11 2468 c.2462A>T c.(2461-2463)AAA>ATA p.K821I ZC3H13_uc001vas.1_Missense_Mutation_p.K821I|ZC3H13_uc001vat.1_Missense_Mutation_p.K821I NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 821 Arg/Glu-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TTACTTTGATTTTCTTTCATC 0.333 185 103 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70681661 70681661 + Silent SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr13:70681661G>C uc001vip.2 - 1 965 c.171C>G c.(169-171)CTC>CTG p.L57L KLHL1_uc010thm.1_Silent_p.L57L|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 57 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTGGCTTTTGAGCAGGCGAC 0.473 44 37 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101828722 101828722 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr13:101828722G>T uc001vox.1 - 15 1957 c.1768C>A c.(1768-1770)CTC>ATC p.L590I NALCN_uc001voy.2_Missense_Mutation_p.L305I NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 590 Helical; Name=S6 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) AAACTCAGGAGGATCTATAAA 0.289 65 54 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110853789 110853789 + Silent SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr13:110853789T>A uc001vqw.3 - 19 1202 c.1080A>T c.(1078-1080)CCA>CCT p.P360P COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 360 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AGCTACCTTTTGGGCCTGGCT 0.343 22 31 --- --- --- --- PASS HNRNPC 3183 broad.mit.edu 37 14 21681153 21681153 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:21681153C>G uc001vzy.2 - 6 772 c.528G>C c.(526-528)AAG>AAC p.K176N HNRNPC_uc001vzw.2_Missense_Mutation_p.K163N|HNRNPC_uc001wad.2_Missense_Mutation_p.K96N|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.K163N|HNRNPC_uc001waa.2_Missense_Mutation_p.K176N|HNRNPC_uc010ail.2_Missense_Mutation_p.K176N|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.K163N|HNRNPC_uc001wac.2_Intron|HNRNPC_uc010tlr.1_Missense_Mutation_p.K41N|HNRNPC_uc001waf.2_Missense_Mutation_p.K163N|HNRNPC_uc001wae.2_Missense_Mutation_p.K163N NM_031314 NP_112604 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C 176 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding 0 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) GCTGTCCACTCTTAGAATTGA 0.453 52 103 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23855703 23855703 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:23855703G>T uc001wjv.2 - 33 4847 c.4780C>A c.(4780-4782)CGG>AGG p.R1594R NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1594 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCCACCACCCGCTGGTGGTTG 0.592 37 214 --- --- --- --- PASS CPNE6 9362 broad.mit.edu 37 14 24544799 24544799 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:24544799C>A uc001wll.2 + 9 962 c.863C>A c.(862-864)ACG>AAG p.T288K CPNE6_uc010tnv.1_Missense_Mutation_p.T343K|CPNE6_uc001wlm.2_Missense_Mutation_p.T113K|CPNE6_uc001wln.2_5'UTR NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 288 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) GCCCAGTGCACGGTAAATTTC 0.532 6 18 --- --- --- --- PASS HECTD1 25831 broad.mit.edu 37 14 31602498 31602498 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:31602498C>G uc001wrc.1 - 24 4357 c.3868G>C c.(3868-3870)GAT>CAT p.D1290H HECTD1_uc001wrd.1_Missense_Mutation_p.D805H NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1290 MIB/HERC2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CCATCCTGATCTCGCCATTTC 0.483 10 76 --- --- --- --- PASS SLC35F4 341880 broad.mit.edu 37 14 58060795 58060795 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:58060795G>A uc001xdb.1 - 2 259 c.259C>T c.(259-261)CCC>TCC p.P87S SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 TGTGAACTGGGGCAGTTGGCT 0.483 24 38 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63483642 63483642 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:63483642A>T uc001xfx.2 - 2 155 c.104T>A c.(103-105)ATT>AAT p.I35N KCNH5_uc001xfy.2_Missense_Mutation_p.I35N|KCNH5_uc001xfz.1_Translation_Start_Site|KCNH5_uc001xga.2_Translation_Start_Site NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 35 Cytoplasmic (Potential).|PAS. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CCAATCCACAATCTGGGCATT 0.378 40 86 --- --- --- --- PASS GPHB5 122876 broad.mit.edu 37 14 63784564 63784564 + Splice_Site SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:63784564G>T uc010apu.2 - 1 1 c.1_splice c.e1-1 p.M1_splice GPHB5_uc001xgc.2_Splice_Site NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN glycoprotein beta 5 extracellular region hormone activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) CCAGCTTCATGCTGCTCTTCC 0.562 14 18 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71555146 71555146 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:71555146A>T uc001xmo.2 + 29 5883 c.5437A>T c.(5437-5439)AGT>TGT p.S1813C PCNX_uc010are.1_Missense_Mutation_p.S1702C|PCNX_uc010arf.1_Missense_Mutation_p.S601C NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1813 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCATATGTCCAGGTAAAGAAG 0.438 18 62 --- --- --- --- PASS ALDH6A1 4329 broad.mit.edu 37 14 74539005 74539005 + Silent SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:74539005A>T uc001xpo.2 - 4 348 c.249T>A c.(247-249)ATT>ATA p.I83I C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Silent_p.I83I NM_005589 NP_005580 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6A1 precursor 83 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) TGCAGGAAGCAATGGCTGCAT 0.488 25 46 --- --- --- --- PASS EIF2B2 8892 broad.mit.edu 37 14 75471540 75471540 + Silent SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:75471540C>G uc001xrc.1 + 4 616 c.534C>G c.(532-534)CTC>CTG p.L178L NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 178 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) AGGCCTTCCTCAAAGAGGCTG 0.493 47 68 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75513760 75513760 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:75513760C>G uc001xrd.1 - 2 2815 c.2599G>C c.(2599-2601)GAG>CAG p.E867Q MLH3_uc001xre.1_Missense_Mutation_p.E867Q|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 867 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) GATGACTTCTCAAGGTCCAAA 0.393 MMR 42 219 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94069606 94069606 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:94069606A>T uc001ybv.1 + 23 3148 c.3065A>T c.(3064-3066)AAT>ATT p.N1022I KIAA1409_uc001ybs.1_Missense_Mutation_p.N1022I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1199 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GTGAGGACCAATGTTGCTAAC 0.463 56 146 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103410592 103410592 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:103410592C>T uc001ymi.1 - 30 4276 c.4044G>A c.(4042-4044)GTG>GTA p.V1348V CDC42BPB_uc001ymj.1_Silent_p.V450V NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1348 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TCAGCCGTTTCACGGCCACAA 0.557 8 62 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104251219 104251219 + Nonsense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:104251219C>A uc001yof.1 - 3 473 c.190G>T c.(190-192)GAA>TAA p.E64* PPP1R13B_uc001yog.1_5'UTR NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 64 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TGAAGATGTTCGTACATCATA 0.398 26 93 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106322129 106322129 + RNA SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:106322129G>T uc010tyt.1 - 3598 c.55357C>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron Parts of antibodies, mostly variable regions. 0 AGGTGGCTGCGTACTTGCCCC 0.557 21 32 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811655 23811655 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr15:23811655G>T uc001ywh.3 + 1 1202 c.726G>T c.(724-726)CGG>CGT p.R242R MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.R242R NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 242 C3H1-type 2. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GTGGGTTGCGGTTTTGCTATT 0.587 27 20 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931488 23931488 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr15:23931488G>C uc001ywk.2 - 1 963 c.877C>G c.(877-879)CGA>GGA p.R293G NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 293 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCTCTGTATCGGGAGGGCCAG 0.587 Prader-Willi_syndrome 53 39 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931639 23931639 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr15:23931639C>T uc001ywk.2 - 1 812 c.726G>A c.(724-726)ATG>ATA p.M242I NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 242 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCAGGTAATTCATTTGGACGA 0.592 Prader-Willi_syndrome 30 30 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26812811 26812811 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr15:26812811T>C uc001zaz.2 - 7 894 c.752A>G c.(751-753)TAT>TGT p.Y251C GABRB3_uc010uae.1_Missense_Mutation_p.Y166C|GABRB3_uc001zba.2_Missense_Mutation_p.Y251C|GABRB3_uc001zbb.2_Missense_Mutation_p.Y307C NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 251 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGAGGGCATATAAGTCTGAAG 0.433 37 26 --- --- --- --- PASS FBXL22 283807 broad.mit.edu 37 15 63893515 63893515 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr15:63893515C>A uc002amn.2 + 2 370 c.356C>A c.(355-357)CCA>CAA p.P119Q uc002amj.2_5'Flank|uc002amk.2_5'Flank|uc002aml.2_5'Flank NM_203373 NP_976307 Q6P050 FXL22_HUMAN F-box and leucine-rich repeat protein 22 119 0 GTGCGCTCCCCACGGAGGCGG 0.612 30 27 --- --- --- --- PASS MAP2K1 5604 broad.mit.edu 37 15 66727571 66727571 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr15:66727571G>A uc010bhq.2 + 2 762 c.287G>A c.(286-288)AGA>AAA p.R96K MAP2K1_uc010ujp.1_Missense_Mutation_p.R74K NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 96 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GTCATGGCCAGAAAGGTGAGT 0.493 Cardiofaciocutaneous_syndrome 67 66 --- --- --- --- PASS LASS3 204219 broad.mit.edu 37 15 101009683 101009683 + Nonsense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr15:101009683T>A uc002bvz.2 - 11 1247 c.745A>T c.(745-747)AAG>TAG p.K249* LASS3_uc002bwa.2_Nonsense_Mutation_p.K260*|LASS3_uc002bwb.2_Nonsense_Mutation_p.K249* NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 249 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) GAAAACATCTTAGCAGACTGC 0.308 46 59 --- --- --- --- PASS TSC2 7249 broad.mit.edu 37 16 2106196 2106196 + Splice_Site SNP G T T rs45517117 TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:2106196G>T uc002con.2 + 7 706 c.600_splice c.e7-1 p.Q200_splice TSC2_uc010bsd.2_Splice_Site_p.Q200_splice|TSC2_uc002coo.2_Splice_Site_p.Q200_splice|TSC2_uc010uvv.1_Splice_Site_p.Q163_splice|TSC2_uc010uvw.1_Splice_Site_p.Q151_splice|TSC2_uc002cop.2_Splice_Site NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) GCTCCCTGCAGGATGATCTGT 0.607 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 20 30 --- --- --- --- PASS CORO7 79585 broad.mit.edu 37 16 4391372 4391372 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:4391372C>T uc002cwf.2 - 29 3434 c.2991G>A c.(2989-2991)CAG>CAA p.Q997Q CORO7_uc002cwe.2_RNA|TIMM16_uc002cwd.2_Silent_p.Q74Q NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 Error:Variant_position_missing_in_P57737_after_alignment cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 GCCTCACCTTCTGGACCTCCT 0.637 5 5 --- --- --- --- PASS ACSM3 6296 broad.mit.edu 37 16 20803421 20803421 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:20803421C>T uc002dhr.2 + 11 1611 c.1424C>T c.(1423-1425)GCA>GTA p.A475V ACSM3_uc010vba.1_Missense_Mutation_p.A504V|ERI2_uc002dhs.2_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 475 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 TGGTTTGTTGCAAGAGCAGAT 0.393 86 123 --- --- --- --- PASS ITFG1 81533 broad.mit.edu 37 16 47493054 47493054 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:47493054T>C uc002eet.2 - 2 303 c.241A>G c.(241-243)AAT>GAT p.N81D ITFG1_uc010vgh.1_5'UTR|PHKB_uc010vgi.1_5'Flank|PHKB_uc002eeu.3_5'Flank|PHKB_uc002eev.3_5'Flank|ITFG1_uc010cbf.1_5'UTR NM_030790 NP_110417 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 81 extracellular region|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) TAGGGTGCATTCTGGTCTGCC 0.269 27 135 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51173329 51173329 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:51173329G>C uc010vgs.1 - 2 2835 c.2804C>G c.(2803-2805)ACG>AGG p.T935R SALL1_uc010vgr.1_Missense_Mutation_p.T838R|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 935 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GAACTCCTGCGTGCTGTTGGA 0.567 58 77 --- --- --- --- PASS DUS2L 54920 broad.mit.edu 37 16 68090271 68090271 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:68090271A>T uc002evi.2 + 7 462 c.313A>T c.(313-315)AAT>TAT p.N105Y DUS2L_uc002evj.2_Missense_Mutation_p.N105Y|DUS2L_uc010vkk.1_Intron|DUS2L_uc010cez.2_Missense_Mutation_p.N18Y NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 105 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) TTCCAGAGAAAATGATGTGGC 0.378 67 84 --- --- --- --- PASS NFATC3 4775 broad.mit.edu 37 16 68224873 68224873 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:68224873G>T uc002evo.1 + 9 2511 c.2301G>T c.(2299-2301)TTG>TTT p.L767F NFATC3_uc010vkl.1_Missense_Mutation_p.L288F|NFATC3_uc010vkm.1_Missense_Mutation_p.L288F|NFATC3_uc010vkn.1_Missense_Mutation_p.L288F|NFATC3_uc010vko.1_Missense_Mutation_p.L288F|NFATC3_uc010vkp.1_Missense_Mutation_p.L288F|NFATC3_uc010vkq.1_Missense_Mutation_p.L288F|NFATC3_uc002evl.2_Missense_Mutation_p.L288F|NFATC3_uc002evk.2_Missense_Mutation_p.L767F|NFATC3_uc002evm.1_Missense_Mutation_p.L767F|NFATC3_uc002evn.1_Missense_Mutation_p.L767F|NFATC3_uc010vkr.1_Missense_Mutation_p.L288F|NFATC3_uc010vks.1_Missense_Mutation_p.L288F|NFATC3_uc010vkt.1_Missense_Mutation_p.L288F|NFATC3_uc010vku.1_Missense_Mutation_p.L288F|NFATC3_uc010vkv.1_Missense_Mutation_p.L288F|NFATC3_uc010vkw.1_Missense_Mutation_p.L288F|NFATC3_uc010vkx.1_Missense_Mutation_p.L288F|NFATC3_uc010vky.1_Missense_Mutation_p.L288F|NFATC3_uc010vkz.1_Missense_Mutation_p.L288F|NFATC3_uc010vla.1_Missense_Mutation_p.L288F|NFATC3_uc010vlb.1_Missense_Mutation_p.L288F|NFATC3_uc010vlc.1_Missense_Mutation_p.L288F NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 767 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TGCCACAGTTGCAGTGTAGAG 0.458 35 183 --- --- --- --- PASS PRMT7 54496 broad.mit.edu 37 16 68373738 68373738 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:68373738G>T uc002evy.1 + 9 1070 c.794G>T c.(793-795)AGG>ATG p.R265M PRMT7_uc002evx.1_Missense_Mutation_p.R265M|PRMT7_uc010vlg.1_Missense_Mutation_p.R215M|PRMT7_uc002evz.1_Missense_Mutation_p.R111M NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 265 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) TGCCATAGCAGGCGGTTTGAA 0.507 29 116 --- --- --- --- PASS PRMT7 54496 broad.mit.edu 37 16 68373740 68373740 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:68373740C>T uc002evy.1 + 9 1072 c.796C>T c.(796-798)CGG>TGG p.R266W PRMT7_uc002evx.1_Missense_Mutation_p.R266W|PRMT7_uc010vlg.1_Missense_Mutation_p.R216W|PRMT7_uc002evz.1_Missense_Mutation_p.R112W NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 266 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CCATAGCAGGCGGTTTGAACC 0.507 31 116 --- --- --- --- PASS C16orf46 123775 broad.mit.edu 37 16 81095228 81095228 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:81095228A>T uc002fgc.3 - 4 985 c.726T>A c.(724-726)GAT>GAA p.D242E C16orf46_uc010chf.2_Missense_Mutation_p.D242E|C16orf46_uc010vno.1_5'UTR NM_152337 NP_689550 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 2 242 0 CCTTTTCCACATCCAGCACCT 0.463 51 274 --- --- --- --- PASS BANP 54971 broad.mit.edu 37 16 88066787 88066787 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:88066787A>G uc002fkr.2 + 9 1333 c.1109A>G c.(1108-1110)TAC>TGC p.Y370C BANP_uc002fkp.2_Missense_Mutation_p.Y340C|BANP_uc002fkq.2_Missense_Mutation_p.Y340C|BANP_uc010vow.1_Missense_Mutation_p.Y378C|BANP_uc002fks.3_Missense_Mutation_p.Y339C|BANP_uc002fko.1_Missense_Mutation_p.Y276C|BANP_uc010vov.1_Missense_Mutation_p.Y345C NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b 371 DNA-binding (By similarity).|Gln-rich. cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 BRCA - Breast invasive adenocarcinoma(80;0.00551) GCCCTGCACTACGCGCTGGCC 0.642 10 10 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:7578457C>A uc002gim.2 - 5 667 c.473G>T c.(472-474)CGC>CTC p.R158L TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 37 37 --- --- --- --- PASS PFAS 5198 broad.mit.edu 37 17 8161209 8161209 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:8161209A>G uc002gkr.2 + 10 1301 c.1160A>G c.(1159-1161)AAT>AGT p.N387S PFAS_uc010vuv.1_5'UTR NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 387 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAGCCAGTAATGGAGCTTCT 0.572 48 33 --- --- --- --- PASS PIK3R5 23533 broad.mit.edu 37 17 8793402 8793402 + Silent SNP G T T rs150952108 by1000genomes TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:8793402G>T uc002glt.2 - 8 766 c.699C>A c.(697-699)ACC>ACA p.T233T PIK3R5_uc010vuz.1_Silent_p.T233T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Intron|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 233 AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GTGCCTCTGCGGTCTCCGTGA 0.627 44 43 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10352044 10352044 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:10352044G>T uc002gmn.2 - 32 4533 c.4422C>A c.(4420-4422)TCC>TCA p.S1474S uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1474 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 ACTCCTTCTGGGAGGCCTCAA 0.443 49 46 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10352088 10352088 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:10352088A>T uc002gmn.2 - 32 4489 c.4378T>A c.(4378-4380)TGG>AGG p.W1460R uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1460 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTCTGTTTCCATTCTGCCAGA 0.478 34 40 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10551951 10551951 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:10551951G>C uc002gmq.1 - 7 735 c.658C>G c.(658-660)CAA>GAA p.Q220E NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 220 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CTGATGATTTGATCTTCCAGA 0.353 51 39 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21319870 21319870 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:21319870C>T uc002gyv.1 + 3 1921 c.1216C>T c.(1216-1218)CCC>TCC p.P406S NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 406 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CGGCCTCAGCCCCCAGGCCAG 0.662 Prostate(3;0.18) 9 30 --- --- --- --- PASS AATF 26574 broad.mit.edu 37 17 35343921 35343921 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:35343921A>G uc002hni.2 + 5 1089 c.838A>G c.(838-840)AAG>GAG p.K280E AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 280 POLR2J binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) CCCAGGTCACAAGGCACTTAA 0.423 106 114 --- --- --- --- PASS WNK4 65266 broad.mit.edu 37 17 40937114 40937114 + Splice_Site SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:40937114G>C uc002ibj.2 + 5 1192 c.1171_splice c.e5-1 p.G391_splice WNK4_uc010wgx.1_Intron|WNK4_uc002ibk.1_Splice_Site_p.G163_splice|WNK4_uc010wgy.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCCTTCCCCAGGGCAGAAAGC 0.552 8 18 --- --- --- --- PASS HLF 3131 broad.mit.edu 37 17 53342907 53342907 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:53342907T>C uc002iug.1 + 1 587 c.62T>C c.(61-63)GTG>GCG p.V21A HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank NM_002126 NP_002117 Q16534 HLF_HUMAN hepatic leukemia factor 21 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 CCCTACGGCGTGCTCAGGTCC 0.607 T TCF3 ALL 7 61 --- --- --- --- PASS COIL 8161 broad.mit.edu 37 17 55027410 55027410 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:55027410T>C uc002iuu.2 - 2 1224 c.1193A>G c.(1192-1194)GAA>GGA p.E398G NM_004645 NP_004636 P38432 COIL_HUMAN coilin 398 2 X 4 AA repeats of S-L-P-A. Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) AAGGTTCTCTTCTCTACCCCA 0.547 65 163 --- --- --- --- PASS TANC2 26115 broad.mit.edu 37 17 61396404 61396404 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:61396404G>A uc002jal.3 + 9 1329 c.1306G>A c.(1306-1308)GAA>AAA p.E436K TANC2_uc010wpe.1_Missense_Mutation_p.E346K NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 436 binding ovary(2) 2 AGGAACTCCGGAAATGCGCAG 0.512 18 58 --- --- --- --- PASS FAM100B 283991 broad.mit.edu 37 17 74261643 74261643 + Silent SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:74261643G>A uc010wsy.1 + 1 358 c.57G>A c.(55-57)CTG>CTA p.L19L NM_182565 NP_872371 Q8IYN6 F100B_HUMAN hypothetical protein LOC283991 19 central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) AGTTCGTGCTGGCCGCGGGCT 0.448 8 31 --- --- --- --- PASS NOTUM 147111 broad.mit.edu 37 17 79914950 79914950 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:79914950G>T uc010wvg.1 - 7 968 c.696C>A c.(694-696)AGC>AGA p.S232R NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 232 Charge relay system (By similarity). extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGCCCCCCGCGCTGCAAGGAG 0.697 16 14 --- --- --- --- PASS RAB40B 10966 broad.mit.edu 37 17 80618872 80618872 + Silent SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr17:80618872C>A uc002kft.2 - 3 381 c.255G>T c.(253-255)CGG>CGT p.R85R RAB40B_uc002kfs.2_RNA NM_006822 NP_006813 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 85 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1) 1 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) CCTGTGCGCCCCGGGAGTAGG 0.448 27 36 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13048922 13048922 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:13048922C>G uc010xac.1 + 16 2212 c.2132C>G c.(2131-2133)TCT>TGT p.S711C CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S236C|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.S452C NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 711 ovary(4)|pancreas(1) 5 AGTGGTGATTCTATGCTTAGG 0.388 26 60 --- --- --- --- PASS ZNF519 162655 broad.mit.edu 37 18 14124406 14124406 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:14124406G>C uc002kst.1 - 2 226 c.73C>G c.(73-75)CAA>GAA p.Q25E ZNF519_uc002ksq.1_RNA|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_RNA NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAATTCTGTTGGGCAGGGTCT 0.423 69 135 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25565543 25565543 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:25565543G>T uc002kwg.2 - 12 2383 c.1924C>A c.(1924-1926)CCT>ACT p.P642T CDH2_uc010xbn.1_Missense_Mutation_p.P611T NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 642 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GGAGATAAAGGAAGATCAAAA 0.368 32 103 --- --- --- --- PASS RNF138 51444 broad.mit.edu 37 18 29693742 29693742 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:29693742C>G uc002kxg.2 + 4 750 c.311C>G c.(310-312)TCT>TGT p.S104C RNF138_uc002kxh.2_Intron NM_016271 NP_057355 Q8WVD3 RN138_HUMAN ring finger protein 138 isoform 1 104 Wnt receptor signaling pathway intracellular ligase activity|protein kinase binding|zinc ion binding 0 CATTACAAATCTTGTAAGAAG 0.294 22 73 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42532904 42532904 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:42532904T>C uc010dni.2 + 4 3895 c.3599T>C c.(3598-3600)GTG>GCG p.V1200A NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1200 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CTCCCGCTGGTGAGTGAGAAG 0.532 Schinzel-Giedion_syndrome 37 83 --- --- --- --- PASS CXXC1 30827 broad.mit.edu 37 18 47813213 47813213 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:47813213C>G uc002leq.3 - 2 752 c.19G>C c.(19-21)GAC>CAC p.D7H CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.D7H|CXXC1_uc010doy.2_Missense_Mutation_p.D7H|CXXC1_uc002les.2_Missense_Mutation_p.D7H NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 7 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GGCTCTGGGTCTGAACCATCT 0.597 18 111 --- --- --- --- PASS CPLX4 339302 broad.mit.edu 37 18 56963953 56963953 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:56963953C>G uc002lhy.2 - 3 647 c.460G>C c.(460-462)GAG>CAG p.E154Q NM_181654 NP_857637 Q7Z7G2 CPLX4_HUMAN complexin 4 precursor 154 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding ovary(1) 1 Colorectal(73;0.175) CACTTCTGCTCCGCTGTCTGC 0.502 28 19 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64197172 64197172 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:64197172C>T uc002lkc.1 - 9 1506 c.1368G>A c.(1366-1368)CTG>CTA p.L456L CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.L456L NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 456 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CTTGCACATACAGTGGGATCG 0.318 30 152 --- --- --- --- PASS CCDC102B 79839 broad.mit.edu 37 18 66678309 66678309 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:66678309C>A uc002lkk.2 + 9 1625 c.1402C>A c.(1402-1404)CTA>ATA p.L468I CCDC102B_uc002lki.2_Missense_Mutation_p.L468I NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 468 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AGTGGAAGAACTAAAGCAGGG 0.373 25 29 --- --- --- --- PASS TSHZ1 10194 broad.mit.edu 37 18 72999377 72999377 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr18:72999377C>A uc002lly.2 + 2 2443 c.1880C>A c.(1879-1881)CCC>CAC p.P627H NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 672 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GCTGCGTCCCCCATAGCAAAA 0.557 42 47 --- --- --- --- PASS TMPRSS9 360200 broad.mit.edu 37 19 2422036 2422036 + Missense_Mutation SNP C T T rs139183825 TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:2422036C>T uc010xgx.1 + 13 2237 c.2237C>T c.(2236-2238)TCG>TTG p.S746L NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 746 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) TCTCCCCCCTCGACCACAAGG 0.662 45 68 --- --- --- --- PASS FSD1 79187 broad.mit.edu 37 19 4311905 4311905 + Nonsense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:4311905G>A uc002lzy.2 + 7 710 c.557G>A c.(556-558)TGG>TAG p.W186* FSD1_uc002lzz.2_Nonsense_Mutation_p.W186*|FSD1_uc002maa.2_5'UTR NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 186 Fibronectin type-III. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCTGGTGTGGCGCATGCCG 0.637 35 72 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10080291 10080291 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:10080291C>A uc002mmq.1 - 56 4144 c.4058G>T c.(4057-4059)CGT>CTT p.R1353L NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1353 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) AGGCCCCACACGTCCAGGGGG 0.682 17 23 --- --- --- --- PASS ZNF763 284390 broad.mit.edu 37 19 12089390 12089390 + Silent SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:12089390C>T uc002msw.2 + 4 806 c.651C>T c.(649-651)ATC>ATT p.I217I ZNF763_uc010xmf.1_Silent_p.I237I|ZNF763_uc002msv.2_Silent_p.I220I|ZNF763_uc010xmg.1_Silent_p.I95I NM_001012753 NP_001012771 Q0D2J5 ZN763_HUMAN zinc finger protein 763 217 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 TATATCTTATCCATGAAAGAA 0.383 9 94 --- --- --- --- PASS TNPO2 30000 broad.mit.edu 37 19 12817544 12817544 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:12817544C>G uc002muo.2 - 13 1521 c.1336G>C c.(1336-1338)GAT>CAT p.D446H TNPO2_uc002mup.2_Missense_Mutation_p.D538H|TNPO2_uc002muq.2_Missense_Mutation_p.D446H|TNPO2_uc002mur.2_Missense_Mutation_p.D446H|SNORD41_uc002mut.1_5'Flank NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 446 HEAT 7. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 GCCTTCTTATCCGACAGGCAC 0.617 10 16 --- --- --- --- PASS ZNF486 90649 broad.mit.edu 37 19 20296798 20296798 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:20296798A>T uc002nou.2 + 3 217 c.160A>T c.(160-162)ATT>TTT p.I54F NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 54 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAACAGGTATTATTGTCTC 0.358 16 56 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154685 22154685 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:22154685G>T uc002nqp.2 - 6 2916 c.2767C>A c.(2767-2769)CAT>AAT p.H923N ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTCCAGCATGAGTTGCCTTA 0.458 35 154 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22364023 22364023 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:22364023C>T uc002nqs.1 - 3 814 c.496G>A c.(496-498)GAG>AAG p.E166K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TAGGAATTCTCTCTAGTATAA 0.343 53 75 --- --- --- --- PASS ZNF675 171392 broad.mit.edu 37 19 23836897 23836897 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:23836897C>G uc002nri.2 - 4 1020 c.838G>C c.(838-840)GGA>CGA p.G280R NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 280 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GGTTTCTCTCCTGTATGAATT 0.363 40 61 --- --- --- --- PASS KIAA0355 9710 broad.mit.edu 37 19 34791812 34791812 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:34791812A>G uc002nvd.3 + 2 1293 c.434A>G c.(433-435)GAA>GGA p.E145G KIAA0355_uc010edk.1_Missense_Mutation_p.E135G NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 145 ovary(1) 1 Esophageal squamous(110;0.162) ATGCTAATGGAACTTAGTGCT 0.473 32 80 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38968482 38968482 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:38968482G>T uc002oit.2 + 30 4556 c.4426G>T c.(4426-4428)GGG>TGG p.G1476W RYR1_uc002oiu.2_Missense_Mutation_p.G1476W NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1476 Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGTGACCATGGGGGATGAACA 0.672 23 277 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40411910 40411910 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:40411910C>G uc002omp.3 - 7 3726 c.3718G>C c.(3718-3720)GGC>CGC p.G1240R NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1240 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCCAAGCTGCCACCGGATGGC 0.672 24 17 --- --- --- --- PASS ZNF574 64763 broad.mit.edu 37 19 42584936 42584936 + Silent SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:42584936A>G uc002osm.3 + 2 2347 c.2178A>G c.(2176-2178)ACA>ACG p.T726T ZNF574_uc002osk.3_Silent_p.T816T NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 726 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GCACTGCTACAGCATCCCCTG 0.677 56 54 --- --- --- --- PASS NCR1 9437 broad.mit.edu 37 19 55421426 55421426 + Splice_Site SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr19:55421426G>T uc002qib.2 + 5 720 c.682_splice c.e5+1 p.A228_splice NCR1_uc002qic.2_Splice_Site_p.D228_splice|NCR1_uc002qie.2_Splice_Site_p.D228_splice|NCR1_uc002qid.2_Splice_Site_p.A133_splice|NCR1_uc002qif.2_Splice_Site_p.D133_splice|NCR1_uc010esj.2_Splice_Site_p.A121_splice NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) ACCTTTCCTGGTGAGTAACTG 0.433 110 123 --- --- --- --- PASS SNRPB 6628 broad.mit.edu 37 20 2444418 2444418 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr20:2444418C>A uc002wfz.1 - 4 558 c.395G>T c.(394-396)CGT>CTT p.R132L SNRPB_uc002wga.1_Missense_Mutation_p.R132L|SNRPB_uc010zpv.1_Missense_Mutation_p.R53L|SNRPB_uc002wgb.2_Missense_Mutation_p.R132L|SNORD119_uc010gam.1_5'Flank NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 132 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 GCCAACCCCACGGACTGGCCC 0.617 111 181 --- --- --- --- PASS TMX4 56255 broad.mit.edu 37 20 7980393 7980393 + Silent SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr20:7980393G>T uc002wmx.1 - 4 586 c.453C>A c.(451-453)TCC>TCA p.S151S NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 151 cell redox homeostasis|electron transport chain|transport integral to membrane 0 GAGAAGCCGGGGATTTCCAGC 0.418 16 57 --- --- --- --- PASS DYNLRB1 83658 broad.mit.edu 37 20 33122575 33122575 + Missense_Mutation SNP A G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr20:33122575A>G uc002xal.2 + 3 283 c.223A>G c.(223-225)AAA>GAA p.K75E DYNLRB1_uc010zuk.1_Missense_Mutation_p.K75E|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA NM_014183 NP_054902 Q9NP97 DLRB1_HUMAN Roadblock-1 75 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity 0 TCGCTCCAAGAAAAATGAAAT 0.527 10 65 --- --- --- --- PASS MANBAL 63905 broad.mit.edu 37 20 35944790 35944790 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr20:35944790C>T uc002xgu.2 + 4 442 c.230C>T c.(229-231)CCC>CTC p.P77L MANBAL_uc002xgv.2_Missense_Mutation_p.P77L|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA NM_022077 NP_071360 Q9NQG1 MANBL_HUMAN mannosidase, beta A, lysosomal-like 77 integral to membrane 0 Myeloproliferative disorder(115;0.00878) AACAAGAGGCCCAAGAAAGAG 0.562 16 86 --- --- --- --- PASS TOP1 7150 broad.mit.edu 37 20 39704921 39704921 + Missense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr20:39704921G>A uc002xjl.2 + 4 512 c.266G>A c.(265-267)CGA>CAA p.R89Q TOP1_uc010gge.1_RNA NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 89 Lys-rich. DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) aaggaaaaacgaaaaGAGGAA 0.199 T NUP98 AML* 24 73 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62195014 62195014 + Nonsense_Mutation SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr20:62195014G>A uc002yfm.2 - 9 6053 c.5161C>T c.(5161-5163)CAG>TAG p.Q1721* PRIC285_uc002yfl.1_Nonsense_Mutation_p.Q1152* NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1721 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GCCCGCCGCTGATAGCTCTGG 0.692 5 7 --- --- --- --- PASS ZBTB46 140685 broad.mit.edu 37 20 62421809 62421809 + Missense_Mutation SNP T A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr20:62421809T>A uc002ygv.1 - 2 503 c.302A>T c.(301-303)AAC>ATC p.N101I ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CTCGATGACGTTCCTGCTGGT 0.607 15 44 --- --- --- --- PASS MYT1 4661 broad.mit.edu 37 20 62853343 62853343 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr20:62853343C>T uc002yii.2 + 14 2703 c.2339C>T c.(2338-2340)ACC>ATC p.T780I MYT1_uc002yih.2_Missense_Mutation_p.T482I|MYT1_uc002yij.2_Missense_Mutation_p.T439I NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 780 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGGGAAGTCACCCTGACCAAC 0.517 40 73 --- --- --- --- PASS POTEH 23784 broad.mit.edu 37 22 16287519 16287519 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:16287519G>C uc010gqp.2 - 1 419 c.367C>G c.(367-369)CAC>GAC p.H123D POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 123 skin(1) 1 GAGTCGTCGTGGTCTCCAGAA 0.602 96 525 --- --- --- --- PASS POTEH 23784 broad.mit.edu 37 22 16287598 16287598 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:16287598G>T uc010gqp.2 - 1 340 c.288C>A c.(286-288)AGC>AGA p.S96R POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 96 skin(1) 1 TGCCCATCTTGCTCCTGAGTG 0.602 68 374 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18028483 18028483 + Missense_Mutation SNP A T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:18028483A>T uc010gqw.1 + 16 3566 c.3440A>T c.(3439-3441)CAT>CTT p.H1147L CECR2_uc010gqv.1_Missense_Mutation_p.H1005L|CECR2_uc002zml.2_Missense_Mutation_p.H1006L|CECR2_uc002zmo.2_RNA NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1189 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) AACCACCCACATTCTGGAGGC 0.592 23 33 --- --- --- --- PASS CRKL 1399 broad.mit.edu 37 22 21288386 21288386 + Missense_Mutation SNP C G G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:21288386C>G uc002ztf.2 + 2 1140 c.631C>G c.(631-633)CAG>GAG p.Q211E CRKL_uc002ztg.1_RNA NM_005207 NP_005198 P46109 CRKL_HUMAN v-crk sarcoma virus CT10 oncogene homolog 211 JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity 0 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) CGCTCAACCTCAGACCACAAC 0.502 55 125 --- --- --- --- PASS LZTR1 8216 broad.mit.edu 37 22 21350124 21350124 + Missense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:21350124C>T uc002zto.2 + 17 2135 c.2032C>T c.(2032-2034)CGG>TGG p.R678W LZTR1_uc002ztn.2_Missense_Mutation_p.R637W|LZTR1_uc011ahy.1_Missense_Mutation_p.R659W|LZTR1_uc002ztp.2_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 678 BTB 2. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CGGGCACCCACGGCCAGCCCA 0.647 41 65 --- --- --- --- PASS CHEK2 11200 broad.mit.edu 37 22 29091746 29091746 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:29091746T>C uc003adu.1 - 11 1283 c.1211A>G c.(1210-1212)TAT>TGT p.Y404C CHEK2_uc003ads.1_Missense_Mutation_p.Y183C|CHEK2_uc010gvh.1_Missense_Mutation_p.Y313C|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.Y447C|CHEK2_uc003adv.1_Missense_Mutation_p.Y375C|CHEK2_uc003adw.1_Missense_Mutation_p.Y404C|CHEK2_uc003adx.1_Missense_Mutation_p.Y183C|CHEK2_uc003ady.1_Missense_Mutation_p.Y404C|CHEK2_uc003adz.1_Missense_Mutation_p.Y208C NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 404 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 AGCACGGTTATACCCAGCAGT 0.453 F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 31 91 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40061520 40061520 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:40061520C>A uc003ayc.2 + 22 3869 c.3869C>A c.(3868-3870)CCG>CAG p.P1290Q CACNA1I_uc003ayd.2_Missense_Mutation_p.P1255Q|CACNA1I_uc003aye.2_Missense_Mutation_p.P1205Q|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1170Q NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1290 III.|Helical; Name=S4 of repeat III; (Potential). 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) AGCCGGGCGCCGGGCCTGAAG 0.617 25 55 --- --- --- --- PASS ACO2 50 broad.mit.edu 37 22 41907949 41907949 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:41907949C>A uc003bac.2 + 4 524 c.502C>A c.(502-504)CCT>ACT p.P168T ACO2_uc003bad.2_Missense_Mutation_p.P168T NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 168 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CTTCTGGAAGCCTGGATCTGG 0.512 15 45 --- --- --- --- PASS TTLL1 25809 broad.mit.edu 37 22 43435822 43435822 + Missense_Mutation SNP G A A rs116153895 TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:43435822G>A uc003bdi.2 - 11 1473 c.1232C>T c.(1231-1233)TCG>TTG p.S411L TTLL1_uc010gzh.2_Missense_Mutation_p.S382L|TTLL1_uc003bdj.2_Missense_Mutation_p.S297L|TTLL1_uc003bdh.2_Missense_Mutation_p.S373L NM_012263 NP_036395 O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 411 protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity skin(1) 1 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) CGAGTCTCTCGATCGGCCTGC 0.602 21 203 --- --- --- --- PASS TUBGCP6 85378 broad.mit.edu 37 22 50664511 50664511 + Missense_Mutation SNP T C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr22:50664511T>C uc003bkb.1 - 9 2313 c.1801A>G c.(1801-1803)ACC>GCC p.T601A TUBGCP6_uc010har.1_Missense_Mutation_p.T601A|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 601 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGGTTAATGGTCTTTCCGCAG 0.582 98 202 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31838129 31838129 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:31838129C>A uc004dda.1 - 50 7516 c.7272G>T c.(7270-7272)CAG>CAT p.Q2424H DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.Q1080H|DMD_uc004dcx.2_Missense_Mutation_p.Q1083H|DMD_uc004dcz.2_Missense_Mutation_p.Q2301H|DMD_uc004dcy.1_Missense_Mutation_p.Q2420H|DMD_uc004ddb.1_Missense_Mutation_p.Q2416H|DMD_uc004ddd.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2424 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTAGGTCAGGCTGCTTTGCCC 0.438 25 34 --- --- --- --- PASS CXorf59 286464 broad.mit.edu 37 X 36116911 36116911 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:36116911G>T uc004ddk.1 + 6 829 c.643G>T c.(643-645)GCT>TCT p.A215S NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 215 integral to membrane central_nervous_system(1) 1 TAATTTTAGTGCTCAAGGAGG 0.264 16 9 --- --- --- --- PASS PAGE2B 389860 broad.mit.edu 37 X 55103864 55103864 + Missense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:55103864G>T uc004due.2 + 4 278 c.226G>T c.(226-228)GCT>TCT p.A76S NM_001015038 NP_001015038 Q5JRK9 GGEE3_HUMAN P antigen family, member 2B 76 0 ACAGGAACTGGCTCTGCTTAA 0.403 85 29 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75650397 75650397 + Nonsense_Mutation SNP G T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:75650397G>T uc004ecm.1 + 1 2281 c.2074G>T c.(2074-2076)GAA>TAA p.E692* NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 692 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CGAAGCTCTGGAAGAAGATGC 0.473 12 10 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91132563 91132563 + Missense_Mutation SNP G C C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:91132563G>C uc004efk.1 + 2 2169 c.1324G>C c.(1324-1326)GGC>CGC p.G442R PCDH11X_uc004efl.1_Missense_Mutation_p.G442R|PCDH11X_uc004efo.1_Missense_Mutation_p.G442R|PCDH11X_uc010nmv.1_Missense_Mutation_p.G442R|PCDH11X_uc004efm.1_Missense_Mutation_p.G442R|PCDH11X_uc004efn.1_Missense_Mutation_p.G442R|PCDH11X_uc004efh.1_Missense_Mutation_p.G442R|PCDH11X_uc004efj.1_Missense_Mutation_p.G442R NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 442 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TGCAGATGCTGGCAAACCTCC 0.408 44 28 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125686402 125686402 + Missense_Mutation SNP C A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:125686402C>A uc004eul.2 - 1 441 c.190G>T c.(190-192)GGC>TGC p.G64C NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 64 skin(3)|ovary(1) 4 CTGGCGGGGCCCCACCCGCCT 0.697 35 23 --- --- --- --- PASS XPNPEP2 7512 broad.mit.edu 37 X 128887225 128887225 + Splice_Site SNP G A A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:128887225G>A uc004eut.1 + 11 1351 c.1107_splice c.e11+1 p.H369_splice NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 GGCCAGCCACGTAAGTCCACG 0.532 66 29 --- --- --- --- PASS BRCC3 79184 broad.mit.edu 37 X 154299830 154299830 + Nonsense_Mutation SNP C T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:154299830C>T uc004fna.2 + 1 121 c.28C>T c.(28-30)CAG>TAG p.Q10* MTCP1NB_uc004fmy.2_5'Flank|MTCP1_uc004fmz.2_5'Flank|BRCC3_uc011mzy.1_Nonsense_Mutation_p.Q10*|BRCC3_uc011mzz.1_RNA|BRCC3_uc004fnb.2_Nonsense_Mutation_p.Q10* NM_024332 NP_077308 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 10 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(3)|ovary(1)|large_intestine(1)|breast(1) 6 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) gcaggcggtgcaggcggtTCA 0.507 6 2 --- --- --- --- PASS ACCN4 55515 broad.mit.edu 37 2 220379559 220379559 + Frame_Shift_Del DEL C - - TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr2:220379559delC uc002vma.2 + 1 508 c.494delC c.(493-495)GCCfs p.A165fs ACCN4_uc010fwi.1_Frame_Shift_Del_p.A165fs|ACCN4_uc010fwj.1_Frame_Shift_Del_p.A165fs|ACCN4_uc002vly.1_Frame_Shift_Del_p.A165fs|ACCN4_uc002vlz.2_Frame_Shift_Del_p.A165fs|ACCN4_uc002vmb.2_5'Flank NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 165 Cytoplasmic (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) CCTGGAGCAGCCCCCCGAGAC 0.642 53 29 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23868034 23868035 + Frame_Shift_Ins INS - T T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr14:23868034_23868035insT uc001wjv.2 - 15 1860_1861 c.1793_1794insA c.(1792-1794)AACfs p.N598fs NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 598 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GAGGATCCTTGTTTTTTTCCAG 0.550 88 42 --- --- --- --- KIAA0182 23199 broad.mit.edu 37 16 85682268 85682268 + Frame_Shift_Del DEL G - - TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chr16:85682268delG uc002fix.2 + 3 411 c.337delG c.(337-339)GGGfs p.G113fs KIAA0182_uc002fiw.2_Frame_Shift_Del_p.G9fs|KIAA0182_uc002fiy.2_Frame_Shift_Del_p.G40fs NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 113 protein binding large_intestine(3)|ovary(1)|skin(1) 5 CGTCCCCCCTGGGGGCCACAG 0.687 105 83 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994683 140994683 + Frame_Shift_Del DEL C - - TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx b290a86e-22da-4f10-a421-2616bb47bc1b 4000af7a-04bd-4522-9c7d-fd45d63aa81c g.chrX:140994683delC uc004fbt.2 + 4 1779 c.1493delC c.(1492-1494)TCCfs p.S498fs MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 498 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAGAGTTCCCCTGAGTGT 0.498 HNSCC(15;0.026) 64 140 --- --- --- ---