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 pox qox isArtifactMode oxoGCut RERE 473 broad.mit.edu 37 1 8421855 8421855 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:8421855C>T uc001ape.2 - 18 2794 c.1984G>A c.(1984-1986)GAC>AAC p.D662N RERE_uc001apf.2_Missense_Mutation_p.D662N|RERE_uc010nzx.1_Missense_Mutation_p.D394N|RERE_uc001apd.2_Missense_Mutation_p.D108N NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 662 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTGGTCCTGTCAGCCTCCTCC 0.552 NA 47 107 0 0 0 0 SLC2A5 6518 broad.mit.edu 37 1 9101976 9101976 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:9101976G>C uc001apo.2 - 5 731 c.439C>G c.(439-441)CCC>GCC p.P147A SLC2A5_uc010nzy.1_Missense_Mutation_p.P88A|SLC2A5_uc010nzz.1_Missense_Mutation_p.P32A|SLC2A5_uc010oaa.1_Missense_Mutation_p.P103A|SLC2A5_uc010oab.1_Missense_Mutation_p.P147A|SLC2A5_uc010oac.1_Missense_Mutation_p.P105R|SLC2A5_uc001app.3_Missense_Mutation_p.P147A NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 147 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AAGTACATGGGGACCACGTTG 0.512 NA 12 39 0 0 0 0 NBPF3 84224 broad.mit.edu 37 1 21808093 21808093 + Silent SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:21808093C>A uc001ber.2 + 13 1787 c.1437C>A c.(1435-1437)CTC>CTA p.L479L NBPF3_uc001bes.2_Silent_p.L423L|NBPF3_uc009vqb.2_Silent_p.L467L|NBPF3_uc010odm.1_Silent_p.L409L NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 479 NBPF 4. cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTTCCAGGCTCAGCAGAGAGC 0.458 NA 44 106 1.03e-13 1.14e-13 1 0 CELA3B 23436 broad.mit.edu 37 1 22313044 22313044 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:22313044C>T uc001bfk.2 + 7 778 c.663C>T c.(661-663)CTC>CTT p.L221L CELA3B_uc009vqf.2_Intron NM_007352 NP_031378 P08861 CEL3B_HUMAN elastase 3B, pancreatic preproprotein 221 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 GAGGACCCCTCAACTGCCCCA 0.572 NA 7 96 0 0 0 0 ZNF436 80818 broad.mit.edu 37 1 23688794 23688795 + Missense_Mutation DNP GC GC AA TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:23688794_23688795GC>AA uc001bgt.2 - 3 1461_1462 c.1080_1081GC>TT c.(1078-1083)AAGCCA>AATTCA p.360_361KP>NS ZNF436_uc001bgu.2_Missense_Mutation_p.360_361KP>NS NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN zinc finger protein 436 360_361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CATTCATATGGCTTCTCTCCAG 0.48 NA 121 154 0 0 0 0 NIPAL3 57185 broad.mit.edu 37 1 24766687 24766687 + Missense_Mutation SNP C C T rs143586098 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:24766687C>T uc001bjh.2 + 3 526 c.119C>T c.(118-120)GCG>GTG p.A40V NIPAL3_uc010oek.1_Missense_Mutation_p.A40V|NIPAL3_uc001bjg.2_Missense_Mutation_p.A40V|NIPAL3_uc009vrc.2_5'UTR NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 40 Helical; (Potential). integral to membrane 0 GCCCTCTTGGCGATCTTCGGG 0.537 NA 41 108 0 0 0 0 PPIE 10450 broad.mit.edu 37 1 40214724 40214724 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:40214724G>A uc001cds.1 + 8 701 c.658G>A c.(658-660)GAT>AAT p.D220N PPIE_uc001cdt.1_Missense_Mutation_p.D154N|PPIE_uc010oiy.1_Missense_Mutation_p.D141N|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.D220N|PPIE_uc001cdw.2_Missense_Mutation_p.D220N|PPIE_uc001cdx.1_Missense_Mutation_p.D136N NM_006112 NP_006103 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E isoform 1 220 PPIase cyclophilin-type. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding 0 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAAGAAGTTCGATGATGAAAA 0.552 NA 51 94 0 0 0 0 PTPRF 5792 broad.mit.edu 37 1 44069435 44069435 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:44069435G>A uc001cjr.2 + 16 2952 c.2612G>A c.(2611-2613)GGC>GAC p.G871D PTPRF_uc001cjs.2_Missense_Mutation_p.G862D|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.G431D|PTPRF_uc001cjv.2_Missense_Mutation_p.G331D|PTPRF_uc001cjw.2_Missense_Mutation_p.G97D NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 871 Extracellular (Potential).|Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATAGATTTCGGCAAGGATGAC 0.637 NA 35 85 0 0 0 0 MAST2 23139 broad.mit.edu 37 1 46500768 46500768 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:46500768G>T uc001cov.2 + 29 4710 c.4427G>T c.(4426-4428)CGG>CTG p.R1476L MAST2_uc001cow.2_Missense_Mutation_p.R1475L|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 1476 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCTCCCTCACGGGCCCTAGGC 0.662 NA 21 40 5.26e-13 5.81e-13 1 0 MYSM1 114803 broad.mit.edu 37 1 59147716 59147716 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:59147716C>T uc009wab.1 - 8 1023 c.1000G>A c.(1000-1002)GAT>AAT p.D334N MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 334 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) TGCCTGGCATCAACTATTATT 0.348 NA 79 174 0 0 0 0 CACHD1 57685 broad.mit.edu 37 1 65117854 65117854 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:65117854G>A uc001dbo.1 + 10 1353 c.1248G>A c.(1246-1248)ATG>ATA p.M416I CACHD1_uc001dbp.1_Missense_Mutation_p.M171I|CACHD1_uc001dbq.1_Missense_Mutation_p.M171I NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 467 Extracellular (Potential).|Cache 1. calcium ion transport integral to membrane ovary(2) 2 GTTTGATAATGACTGTGAGTA 0.403 NA 49 113 0 0 0 0 GADD45A 1647 broad.mit.edu 37 1 68153400 68153400 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:68153400C>T uc001ddz.1 + 4 736 c.441C>T c.(439-441)TGC>TGT p.C147C GADD45A_uc009wbb.1_Silent_p.C113C|GADD45A_uc009wbc.1_RNA|GADD45A_uc009wbd.1_RNA NM_001924 NP_001915 P24522 GA45A_HUMAN growth arrest and DNA-damage-inducible, alpha 147 apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage nucleus protein binding ovary(1) 1 TTTGTTTTTGCCGGGAAAGTC 0.353 NA 4 239 0 0 0 0 CLCA2 9635 broad.mit.edu 37 1 86919091 86919091 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:86919091G>A uc001dlr.3 + 13 2357 c.2195G>A c.(2194-2196)AGA>AAA p.R732K NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 732 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TCAGTAGGCAGAAATGAGGAG 0.453 NA 4 108 0 0 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049934 90049934 + Silent SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:90049934G>T uc001dni.2 + 7 2232 c.1725G>T c.(1723-1725)CTG>CTT p.L575L LRRC8B_uc001dnh.2_Silent_p.L575L|LRRC8B_uc001dnj.2_Silent_p.L575L NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 575 LRR 5. integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GAAGCAAACTGGTTGTGTTGA 0.463 NA 4 94 0.00909568 0.00942467 1 0 SARS 6301 broad.mit.edu 37 1 109778722 109778722 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:109778722G>T uc001dwu.1 + 8 1168 c.1093G>T c.(1093-1095)GTC>TTC p.V365F SARS_uc001dwt.1_Missense_Mutation_p.V365F|SARS_uc001dwv.1_Missense_Mutation_p.V365F|SARS_uc001dww.1_Missense_Mutation_p.V298F|SARS_uc001dwx.1_Missense_Mutation_p.V317F|SARS_uc009wfa.1_Missense_Mutation_p.V365F|SARS_uc001dwy.1_Missense_Mutation_p.V190F|SARS_uc001dwz.1_Missense_Mutation_p.V190F NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 365 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) TGTGAATATTGTCTCAGGTAT 0.507 NA 63 84 1.43e-28 1.65e-28 1 0 ADORA3 140 broad.mit.edu 37 1 112031598 112031598 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:112031598G>A uc001ebf.2 - 3 1273 c.506C>T c.(505-507)ACG>ATG p.T169M ADORA3_uc001ebg.3_Missense_Mutation_p.T88M NM_020683 NP_065734 P33765 AA3R_HUMAN adenosine A3 receptor isoform 1 Error:Variant_position_missing_in_P33765_after_alignment activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGCAGAAGCCGTGTCCAGCAC 0.398 NA 33 80 0 0 0 0 SYCP1 6847 broad.mit.edu 37 1 115489931 115489931 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:115489931G>A uc001efr.2 + 27 2521 c.2312G>A c.(2311-2313)AGA>AAA p.R771K SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R771K|SYCP1_uc009wgw.2_Intron NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 771 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAATAGAAAGAGAAGAGAAG 0.294 NA 43 116 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118567969 118567969 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:118567969C>A uc001ehk.2 - 27 3869 c.3801G>T c.(3799-3801)AAG>AAT p.K1267N NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1267 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACTCATAGTGCTTCACCCTCT 0.458 NA 71 151 2.73e-36 3.21e-36 1 0 NBPF7 343505 broad.mit.edu 37 1 120384093 120384093 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:120384093C>G uc010oxk.1 - 3 1090 c.469G>C c.(469-471)GAC>CAC p.D157H NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 157 cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) TGGGAGTTGTCATGCTTATCC 0.577 NA 5 304 0 0 0 0 NBPF9 400818 broad.mit.edu 37 1 144621623 144621623 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:144621623G>T uc009wig.1 + 9 1031 c.955G>T c.(955-957)GCC>TCC p.A319S NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.A319S|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.A250S|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.A250S|NBPF9_uc010oyg.1_Missense_Mutation_p.A284S|NBPF9_uc009wii.1_Missense_Mutation_p.A48S NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 319 cytoplasm 0 AACTCAACTGGCCGGCTTCCT 0.428 NA 5 397 3.6e-05 3.82e-05 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NA 4 213 0 0 0 0 SV2A 9900 broad.mit.edu 37 1 149879361 149879361 + Silent SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:149879361T>C uc001etg.2 - 10 2060 c.1569A>G c.(1567-1569)TCA>TCG p.S523S SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Silent_p.S523S NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 523 Extracellular (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CAAAGGACACTGACTTGAGCC 0.488 NA 29 113 0 0 0 0 ECM1 1893 broad.mit.edu 37 1 150484939 150484939 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:150484939C>T uc001eus.2 + 8 1394 c.1195C>T c.(1195-1197)CGG>TGG p.R399W ECM1_uc001eut.2_Missense_Mutation_p.R274W|ECM1_uc001euu.2_Missense_Mutation_p.R428W|ECM1_uc001euv.2_Missense_Mutation_p.R426W|ECM1_uc009wlu.2_Missense_Mutation_p.R159W NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 399 2 X approximate repeats.|2. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTTTGCCCGTCGGGCTCCTTA 0.567 NA 59 173 0 0 0 0 LASS2 29956 broad.mit.edu 37 1 150940906 150940906 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:150940906G>A uc001evy.2 - 3 643 c.256C>T c.(256-258)CAT>TAT p.H86Y LASS2_uc001evz.2_Missense_Mutation_p.H86Y|LASS2_uc009wmh.2_5'UTR NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 86 Cytoplasmic (Potential).|Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGGTAGAAATGTTCCAAGGTG 0.572 NA 42 89 0 0 0 0 OR10K1 391109 broad.mit.edu 37 1 158436255 158436255 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:158436255C>G uc010pij.1 + 1 904 c.904C>G c.(904-906)CGA>GGA p.R302G NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) ATCAGCCCTACGAAGAACAAT 0.264 NA 46 135 0 0 0 0 CFH 3075 broad.mit.edu 37 1 196712640 196712640 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:196712640G>A uc001gtj.3 + 20 3432 c.3192G>A c.(3190-3192)ATG>ATA p.M1064I NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1064 Sushi 18. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CGAGACAGATGAGTAAATATC 0.403 NA 68 189 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197112028 197112028 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:197112028C>G uc001gtu.2 - 3 1611 c.1354G>C c.(1354-1356)GAA>CAA p.E452Q ASPM_uc001gtv.2_Missense_Mutation_p.E452Q|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 452 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ACTAGTTCTTCAAAAATAGCT 0.338 NA 6 289 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198721488 198721488 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:198721488G>A uc001gur.1 + 30 3492 c.3312G>A c.(3310-3312)CTG>CTA p.L1104L PTPRC_uc001gus.1_Silent_p.L1056L|PTPRC_uc001gut.1_Silent_p.L943L NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1104 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TCTTTGAACTGAGACATTCCA 0.378 NA 19 148 0 0 0 0 AGAP4 119016 broad.mit.edu 37 10 46322371 46322371 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:46322371G>A uc001jcx.3 - 7 1110 c.984C>T c.(982-984)GCC>GCT p.A328A AGAP4_uc010qfl.1_Silent_p.A351A|AGAP4_uc001jcy.3_Silent_p.A243A NM_133446 NP_597703 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 328 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding ovary(1) 1 TGGGTGTGCAGGCCGATGTGG 0.488 NA 72 216 0 0 0 0 ARID5B 84159 broad.mit.edu 37 10 63851964 63851964 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:63851964G>A uc001jlt.1 + 10 2768 c.2742G>A c.(2740-2742)CCG>CCA p.P914P NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 914 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) CCAAGAACCCGCACAAACCTA 0.572 NA 5 255 0 0 0 0 KIAA1274 27143 broad.mit.edu 37 10 72324152 72324152 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:72324152G>A uc001jrd.3 + 19 2576 c.2295G>A c.(2293-2295)CGG>CGA p.R765R KIAA1274_uc001jre.3_Silent_p.R56R NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 765 ovary(2)|central_nervous_system(1) 3 AAGAAATGCGGAGGCTGCAGC 0.617 NA 31 131 0 0 0 0 UNC5B 219699 broad.mit.edu 37 10 73050857 73050857 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:73050857G>A uc001jro.2 + 9 1730 c.1285G>A c.(1285-1287)GCA>ACA p.A429T UNC5B_uc001jrp.2_Missense_Mutation_p.A418T NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 429 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 CTTTAAGACGGCAAGGCCCAG 0.597 NA 6 451 0 0 0 0 SCD 6319 broad.mit.edu 37 10 102114253 102114253 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:102114253C>A uc001kqy.2 + 4 1001 c.511C>A c.(511-513)CAT>AAT p.H171N NM_005063 NP_005054 O00767 ACOD_HUMAN stearoyl-CoA desaturase 1 171 Cytoplasmic (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity 0 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TGCTGATCCTCATAATTCCCG 0.502 NA 69 163 3.31e-33 3.87e-33 1 0 FBXW4 6468 broad.mit.edu 37 10 103432746 103432746 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:103432746G>A uc001kto.2 - 4 947 c.601C>T c.(601-603)CAT>TAT p.H201Y NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 201 WD 2. ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) TCCTGTTCATGAGCCGAGTAC 0.507 NA 42 74 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704253 117704253 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:117704253G>T uc001lcg.2 + 29 4489 c.4103G>T c.(4102-4104)CGA>CTA p.R1368L ATRNL1_uc010qsm.1_Missense_Mutation_p.R497L|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1368 Cytoplasmic (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GTCCGGAATCGAAAACACCTT 0.418 NA 69 142 1.78e-30 2.06e-30 1 0 SYT8 90019 broad.mit.edu 37 11 1858221 1858221 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:1858221G>A uc001lue.1 + 8 995 c.867G>A c.(865-867)CAG>CAA p.Q289Q SYT8_uc001lud.2_Silent_p.Q289Q|SYT8_uc001luf.1_Silent_p.Q275Q|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN synaptotagmin VIII 289 C2 2.|Cytoplasmic (Potential). acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGCTGAACCAGAGGAAGTGGA 0.627 NA 8 89 0 0 0 0 TSPAN32 10077 broad.mit.edu 37 11 2335794 2335794 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:2335794C>T uc001lvy.1 + 6 673 c.536C>T c.(535-537)GCG>GTG p.A179V TSPAN32_uc001lvx.1_3'UTR|TSPAN32_uc009ydk.1_Missense_Mutation_p.A189V|TSPAN32_uc010qxk.1_Missense_Mutation_p.A214V|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Missense_Mutation_p.A149V|TSPAN32_uc001lwb.1_Missense_Mutation_p.A149V|TSPAN32_uc001lwc.1_Missense_Mutation_p.A124V|TSPAN32_uc001lwd.1_5'Flank NM_139022 NP_620591 Q96QS1 TSN32_HUMAN tumor-suppressing subtransferable candidate 6 179 cell-cell signaling integral to membrane central_nervous_system(1) 1 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GAGGAGGCGGCGAGAGAGGTG 0.652 NA 9 7 0 0 0 0 KCNA4 3739 broad.mit.edu 37 11 30032952 30032952 + Missense_Mutation SNP T T A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:30032952T>A uc001msk.2 - 2 2426 c.1274A>T c.(1273-1275)CAG>CTG p.Q425L NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 425 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCCCTGTTGCTGGGCCAGGTC 0.507 NA 57 44 0 0 0 0 OR4C16 219428 broad.mit.edu 37 11 55340373 55340373 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:55340373C>A uc010rih.1 + 1 770 c.770C>A c.(769-771)ACA>AAA p.T257K NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 257 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TTTATGTACACATGCCTTGCA 0.398 NA 53 109 3.77e-23 4.29e-23 1 0 OR5M10 390167 broad.mit.edu 37 11 56344940 56344940 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:56344940G>A uc001niz.1 - 1 258 c.258C>T c.(256-258)CTC>CTT p.L86L NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTGTTCTGAGAGGAAATTGT 0.438 NA 44 86 0 0 0 0 PCNXL3 399909 broad.mit.edu 37 11 65383829 65383829 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:65383829C>T uc001oey.2 + 1 47 c.47C>T c.(46-48)TCG>TTG p.S16L MAP3K11_uc001oew.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 16 integral to membrane 0 GTGTGGGCCTCGCTCACCGGC 0.667 NA 9 9 0 0 0 0 NUDT8 254552 broad.mit.edu 37 11 67395614 67395615 + Missense_Mutation DNP GG GG TA TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:67395614_67395615GG>TA uc001omo.1 - 4 532_533 c.513_514CC>TA c.(511-516)TTCCTG>TTTATG p.L172M NUDT8_uc001omn.2_3'UTR NM_181843 NP_862826 Q8WV74 NUDT8_HUMAN nudix-type motif 8 172 Nudix hydrolase. mitochondrion hydrolase activity|metal ion binding 0 GGTCCATGCAGGAAGACGGGTA 0.639 NA 28 132 0 0 0 0 FOLR1 2348 broad.mit.edu 37 11 71906662 71906662 + Nonsense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:71906662C>T uc001orz.1 + 5 502 c.364C>T c.(364-366)CAG>TAG p.Q122* FOLR1_uc001osa.1_Nonsense_Mutation_p.Q122*|FOLR1_uc001osb.1_Nonsense_Mutation_p.Q122*|FOLR1_uc001osc.1_Nonsense_Mutation_p.Q122*|FOLR1_uc001osd.1_Nonsense_Mutation_p.Q122* NM_016724 NP_057936 P15328 FOLR1_HUMAN folate receptor 1 precursor 122 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity ovary(1) 1 CCAGGTGGATCAGAGCTGGCG 0.542 NA 28 199 0 0 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021005 73021005 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:73021005G>A uc001otu.2 + 1 1343 c.1322G>A c.(1321-1323)GGC>GAC p.G441D NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 441 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 GGACCTGGAGGCACCTCTAGG 0.607 NA 37 29 0 0 0 0 TYR 7299 broad.mit.edu 37 11 88911535 88911535 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:88911535C>T uc001pcs.2 + 1 496 c.414C>T c.(412-414)CTC>CTT p.L138L NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 138 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TTGCCTACCTCACTTTAGCAA 0.438 NA Oculocutaneous_Albinism 13 136 0 0 0 0 HEPN1 641654 broad.mit.edu 37 11 124789685 124789685 + Missense_Mutation SNP T T A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:124789685T>A uc001qbj.1 + 1 540 c.39T>A c.(37-39)GAT>GAA p.D13E HEPACAM_uc009zbj.2_3'UTR|HEPACAM_uc001qbk.2_3'UTR NM_001037558 NP_001032647 Q6WQI6 HEPN1_HUMAN HEPACAM opposite strand 1 13 cytoplasm 0 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) CATGGGTTGATGGCGAATCAG 0.517 NA 39 37 0 0 0 0 CACNA1C 775 broad.mit.edu 37 12 2595407 2595407 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:2595407T>C uc009zdu.1 + 6 1208 c.895T>C c.(895-897)TAC>CAC p.Y299H CACNA1C_uc009zdv.1_Missense_Mutation_p.Y299H|CACNA1C_uc001qkb.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkc.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qke.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkf.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qjz.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkd.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkg.2_Missense_Mutation_p.Y299H|CACNA1C_uc009zdw.1_Missense_Mutation_p.Y299H|CACNA1C_uc001qkh.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkl.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkn.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qko.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkp.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkr.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qku.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkq.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qks.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qkt.2_Missense_Mutation_p.Y299H|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.Y35H|CACNA1C_uc001qkj.1_Missense_Mutation_p.Y35H|CACNA1C_uc001qkk.1_Missense_Mutation_p.Y35H|CACNA1C_uc001qkm.1_Missense_Mutation_p.Y35H NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 299 I.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CAAGACCTGCTACAACCAGGA 0.602 NA 16 61 0 0 0 0 CLEC4E 26253 broad.mit.edu 37 12 8689784 8689784 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:8689784G>A uc001quo.1 - 4 464 c.299C>T c.(298-300)TCC>TTC p.S100F NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 100 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) TAACGCCCAGGAAATGGTGTC 0.463 NA 47 77 0 0 0 0 ATF7IP 55729 broad.mit.edu 37 12 14577111 14577111 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:14577111T>C uc001rbw.2 + 2 420 c.262T>C c.(262-264)TGG>CGG p.W88R ATF7IP_uc010shs.1_Missense_Mutation_p.W88R|ATF7IP_uc001rbu.2_Missense_Mutation_p.W88R|ATF7IP_uc001rbv.1_Missense_Mutation_p.W88R|ATF7IP_uc001rbx.2_Missense_Mutation_p.W88R|ATF7IP_uc010sht.1_Missense_Mutation_p.W88R|ATF7IP_uc001rby.3_Missense_Mutation_p.W88R|ATF7IP_uc001rbz.1_Missense_Mutation_p.W88R|ATF7IP_uc001rca.2_Missense_Mutation_p.W88R|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 88 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TAAAGCAGAATGGAAGGAAAC 0.378 NA 34 67 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49445126 49445126 + Nonsense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:49445126G>T uc001rta.3 - 10 2340 c.2340C>A c.(2338-2340)TGC>TGA p.C780* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 780 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CAGGCACAGCGCATAGGCATG 0.667 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 27 39 1.3e-26 1.5e-26 1 0 HOXC9 3225 broad.mit.edu 37 12 54396297 54396297 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:54396297G>A uc001sep.2 + 3 720 c.622G>A c.(622-624)GAG>AAG p.E208K HOXC9_uc001seq.2_Missense_Mutation_p.E208K NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 208 Homeobox. multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 GCTGGAACTGGAGAAGGAGTT 0.557 NA 62 119 0 0 0 0 R3HDM2 22864 broad.mit.edu 37 12 57648863 57648863 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:57648863G>A uc009zpm.1 - 22 2659 c.2624C>T c.(2623-2625)CCT>CTT p.P875L R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.P570L|R3HDM2_uc001snr.2_Missense_Mutation_p.P602L|R3HDM2_uc001sns.2_Missense_Mutation_p.P875L|R3HDM2_uc001snt.2_Missense_Mutation_p.P889L|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 875 nucleus nucleic acid binding ovary(2) 2 GATGCCCTCAGGGAGATCTGT 0.602 NA 48 91 0 0 0 0 SLC26A10 65012 broad.mit.edu 37 12 58018675 58018675 + Silent SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:58018675C>A uc001spe.2 + 10 1565 c.1254C>A c.(1252-1254)ATC>ATA p.I418I SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 418 STAS. integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) GGCTCTGCATCCTGAGCTATC 0.577 NA 78 165 7.68e-34 9e-34 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184678 130184678 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:130184678G>A uc009zyl.1 - 2 973 c.645C>T c.(643-645)TCC>TCT p.S215S NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 215 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCTGGTCCACGGACTTCCTCC 0.692 NA 40 79 0 0 0 0 ZNF10 7556 broad.mit.edu 37 12 133732286 133732286 + Missense_Mutation SNP T T G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:133732286T>G uc009zzb.2 + 5 901 c.454T>G c.(454-456)TTC>GTC p.F152V ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.F152V NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 152 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GCAAGTGGCATTCACCCAAAA 0.413 NA 43 64 0 0 0 0 RIPK3 11035 broad.mit.edu 37 14 24808260 24808260 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:24808260C>T uc001wpb.2 - 3 642 c.432G>A c.(430-432)AAG>AAA p.K144K RIPK3_uc001wpa.2_5'UTR|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Silent_p.K144K NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 144 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity central_nervous_system(2)|ovary(1)|lung(1) 4 GBM - Glioblastoma multiforme(265;0.0181) CGTTGGATGGCTTGAGGTCCC 0.627 NA 30 34 0 0 0 0 MIA2 117153 broad.mit.edu 37 14 39716525 39716525 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:39716525C>T uc001wux.2 + 4 941 c.747C>T c.(745-747)AGC>AGT p.S249S MIA2_uc010amy.1_Silent_p.S180S NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 249 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) TACAAGAAAGCTCATTTCGGA 0.403 NA 46 25 0 0 0 0 PTGER2 5732 broad.mit.edu 37 14 52781581 52781581 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:52781581G>A uc001wzr.2 + 1 566 c.315G>A c.(313-315)GAG>GAA p.E105E NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 105 Extracellular (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TGGCGCCCGAGAGCCGCGCGT 0.647 NA 26 63 0 0 0 0 C14orf169 79697 broad.mit.edu 37 14 73959252 73959252 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:73959252C>T uc001xok.1 + 3 1610 c.1531C>T c.(1531-1533)CCC>TCC p.P511S HEATR4_uc010tua.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN chromosome 14 open reading frame 169 511 negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) CGATTCTCTGCCCCCTGTTTT 0.562 NA 39 16 0 0 0 0 FBLN5 10516 broad.mit.edu 37 14 92357640 92357640 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:92357640C>T uc001xzx.3 - 6 1017 c.544G>A c.(544-546)GCG>ACG p.A182T FBLN5_uc010aud.2_Missense_Mutation_p.A187T|FBLN5_uc010aue.2_Missense_Mutation_p.A223T NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 182 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) GGAACATTCGCACAGAGCTGC 0.473 NA 79 29 0 0 0 0 FMN1 342184 broad.mit.edu 37 15 33359987 33359987 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr15:33359987G>A uc001zhf.3 - 1 99 c.99C>T c.(97-99)TTC>TTT p.F33F FMN1_uc001zhg.2_Silent_p.F33F NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:Variant_position_missing_in_Q68DA7_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) ATTTCATAGAGAACTTACTCA 0.428 NA 42 68 0 0 0 0 THBS1 7057 broad.mit.edu 37 15 39876366 39876366 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr15:39876366T>C uc001zkh.2 + 5 1060 c.881T>C c.(880-882)CTG>CCG p.L294P NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 294 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GTGACCACGCTGCAGGACAGC 0.557 NA 19 42 0 0 0 0 MAPK6 5597 broad.mit.edu 37 15 52339091 52339091 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr15:52339091C>G uc002abp.2 + 2 1228 c.434C>G c.(433-435)TCT>TGT p.S145C NM_002748 NP_002739 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 145 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(3)|ovary(1) 4 all cancers(107;0.0028) TATATTCACTCTGCAAATGTA 0.468 NA 71 96 0 0 0 0 ABCA3 21 broad.mit.edu 37 16 2376444 2376444 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:2376444C>T uc002cpy.1 - 4 736 c.24G>A c.(22-24)GCG>GCA p.A8A ABCA3_uc010bsk.1_Silent_p.A8A|ABCA3_uc010bsl.1_Silent_p.A8A|ABCA3_uc002cpz.1_Silent_p.A8A NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 8 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) AGAGGAGGAGCGCCAGCTGCC 0.602 NA 15 37 0 0 0 0 TOX3 27324 broad.mit.edu 37 16 52497888 52497888 + Silent SNP G G A rs147213203 by1000genomes TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:52497888G>A uc002egw.2 - 3 537 c.366C>T c.(364-366)CTC>CTT p.L122L TOX3_uc010vgt.1_Silent_p.L117L|TOX3_uc010vgu.1_Silent_p.L122L NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 122 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 CTTGTTCCACGAGATTTCTTG 0.433 NA 58 118 0 0 0 0 HYDIN 54768 broad.mit.edu 37 16 70913521 70913521 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:70913521C>G uc002ezr.2 - 61 10479 c.10351G>C c.(10351-10353)GAT>CAT p.D3451H NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3452 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GGCAAGCCATCCAAGGTAGCC 0.577 NA 18 83 0 0 0 0 CBFA2T3 863 broad.mit.edu 37 16 88968004 88968004 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:88968004G>A uc002fmm.1 - 2 398 c.212C>T c.(211-213)ACG>ATG p.T71M CBFA2T3_uc002fml.1_Missense_Mutation_p.T10M|CBFA2T3_uc010cif.1_Missense_Mutation_p.T10M|CBFA2T3_uc002fmn.1_Missense_Mutation_p.T71M NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 71 Mediates localization to the nucleus (By similarity).|Pro-rich.|Mediates interaction with PDE7A (in isoform 2).|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) CCGGGGCTGCGTCTTCACCTC 0.667 NA T RUNX1 AML 23 46 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:7577570C>T uc002gim.2 - 7 905 c.711G>A c.(709-711)ATG>ATA p.M237I TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 237 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.M237I(99)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.M144I(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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) AACTGTTACACATGTAGTTGT 0.567 111 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) 18 21 0 0 0 0 MYO18A 399687 broad.mit.edu 37 17 27493807 27493807 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:27493807G>A uc002hdt.1 - 2 310 c.152C>T c.(151-153)TCC>TTC p.S51F MYO18A_uc010csa.1_Missense_Mutation_p.S51F|MYO18A_uc002hdu.1_Missense_Mutation_p.S51F NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 51 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACGCTTGGAGGAGCGGTTCAG 0.517 NA 11 16 0 0 0 0 HNF1B 6928 broad.mit.edu 37 17 36064935 36064935 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:36064935G>C uc002hok.3 - 6 1549 c.1328C>G c.(1327-1329)GCA>GGA p.A443G HNF1B_uc010wdi.1_Missense_Mutation_p.A417G NM_000458 NP_000449 P35680 HNF1B_HUMAN hepatocyte nuclear factor 1-beta isoform 1 443 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TTGTGCAATTGCCATGACTCC 0.463 NA Hereditary_Prostate_Cancer 56 141 0 0 0 0 KRT33B 3884 broad.mit.edu 37 17 39522833 39522833 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:39522833G>A uc002hwl.2 - 3 522 c.477C>T c.(475-477)ATC>ATT p.I159I NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 159 Rod.|Coil 1B. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) GCAGGCTGTTGATGTCGGACT 0.562 NA 40 82 0 0 0 0 PPY 5539 broad.mit.edu 37 17 42018893 42018893 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:42018893C>T uc002iep.2 - 2 175 c.130G>A c.(130-132)GAG>AAG p.E44K NM_002722 NP_002713 P01298 PAHO_HUMAN pancreatic polypeptide preproprotein 44 digestion|protein secretion extracellular region hormone activity 0 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) GCCATCTGCTCTGGTGTGGCA 0.607 NA 44 107 0 0 0 0 SCN4A 6329 broad.mit.edu 37 17 62034533 62034533 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:62034533C>T uc002jds.1 - 13 2442 c.2365G>A c.(2365-2367)GGC>AGC p.G789S NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 789 II.|Helical; Name=S6 of repeat II; (Potential). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) ACAAGATTGCCGATGACCATG 0.582 NA 17 43 0 0 0 0 FBF1 85302 broad.mit.edu 37 17 73915956 73915956 + Splice_Site SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:73915956C>T uc002jqc.2 - 19 2161 c.1887_splice c.e19-1 p.R629_splice FBF1_uc002jqa.1_Splice_Site|FBF1_uc010wsp.1_Splice_Site_p.R620_splice|FBF1_uc002jqd.1_Splice_Site_p.R630_splice|FBF1_uc002jqb.2_Splice_Site|FBF1_uc010dgr.1_Splice_Site NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 0 GATGCGGCTTCTGCCAACAGA 0.602 NA 37 57 0 0 0 0 AANAT 15 broad.mit.edu 37 17 74465350 74465350 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:74465350G>A uc002jro.2 + 3 493 c.259G>A c.(259-261)GAG>AAG p.E87K AANAT_uc010wte.1_RNA NM_001088 NP_001079 Q16613 SNAT_HUMAN arylalkylamine N-acetyltransferase 87 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity 0 CTGGTTCGAGGAGGGCTGCCT 0.627 NA 113 232 0 0 0 0 SYNGR2 9144 broad.mit.edu 37 17 76167595 76167595 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:76167595C>T uc002juu.1 + 3 369 c.342C>T c.(340-342)CTC>CTT p.L114L SYNGR2_uc002jut.2_Silent_p.L114L|SYNGR2_uc002juv.1_Intron|SYNGR2_uc010dhi.1_RNA NM_004710 NP_004701 O43760 SNG2_HUMAN synaptogyrin 2 114 MARVEL.|Helical; (Potential). integral to plasma membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) CCCCAGCTCTCTGGACCTTCC 0.637 NA 34 71 0 0 0 0 SPIRE1 56907 broad.mit.edu 37 18 12453101 12453101 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr18:12453101A>G uc002kre.2 - 14 1860 c.1813T>C c.(1813-1815)TTC>CTC p.F605L SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.F471L|SPIRE1_uc010wzx.1_Missense_Mutation_p.F394L|SPIRE1_uc010wzy.1_Missense_Mutation_p.F591L NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 605 cytoskeleton|perinuclear region of cytoplasm actin binding 0 GACCAAGTGAAGAAGGAAAAC 0.328 NA 4 79 0 0 0 0 NETO1 81832 broad.mit.edu 37 18 70461640 70461640 + Splice_Site SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr18:70461640C>G uc002lkw.2 - 5 754 c.470_splice c.e5-1 p.D157_splice NETO1_uc002lkx.1_Splice_Site_p.D156_splice|NETO1_uc002lky.1_Splice_Site_p.D157_splice NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AAGTCAGGATCTTAAAAATTG 0.294 NA 82 61 0 0 0 0 FBXO15 201456 broad.mit.edu 37 18 71797839 71797839 + Nonsense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr18:71797839C>T uc002lle.2 - 4 495 c.159G>A c.(157-159)TGG>TGA p.W53* FBXO15_uc002llf.2_Nonsense_Mutation_p.W129* NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 53 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AATTAAATTTCCAATTTGATC 0.348 NA 4 40 0 0 0 0 TICAM1 148022 broad.mit.edu 37 19 4817884 4817884 + Nonsense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:4817884G>T uc002mbi.2 - 2 757 c.506C>A c.(505-507)TCG>TAG p.S169* NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 169 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGGCAAAGCCGAGGATGGTGG 0.652 NA 7 176 0.00198382 0.00207322 1 0 KANK2 25959 broad.mit.edu 37 19 11283762 11283762 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:11283762G>A uc010dxv.2 - 12 2664 c.2106C>T c.(2104-2106)TAC>TAT p.Y702Y KANK2_uc002mqm.2_Silent_p.Y710Y|KANK2_uc002mqo.3_Silent_p.Y702Y|KANK2_uc002mqp.1_Silent_p.Y511Y NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 702 ANK 2. 0 TAATAGGGCTGTAGCCAGCAC 0.567 NA 77 110 0 0 0 0 MAST1 22983 broad.mit.edu 37 19 12976159 12976159 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:12976159C>T uc002mvm.2 + 15 1796 c.1668C>T c.(1666-1668)CCC>CCT p.P556P NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 556 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 ACATCGCGCCCGAGGTCATCC 0.657 NA 64 76 0 0 0 0 ZNF253 56242 broad.mit.edu 37 19 20003119 20003119 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:20003119C>T uc002noj.2 + 4 1155 c.1063C>T c.(1063-1065)CTT>TTT p.L355F ZNF253_uc002nok.2_Missense_Mutation_p.L279F|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 355 C2H2-type 7. Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATCCTCACACCTTACTACACA 0.388 NA 41 45 0 0 0 0 ZNF714 148206 broad.mit.edu 37 19 21300358 21300358 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:21300358C>T uc002npo.3 + 6 1251 c.891C>T c.(889-891)TTC>TTT p.F297F ZNF714_uc002npl.2_Silent_p.F142F|ZNF714_uc010ecp.1_Silent_p.F248F|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 297 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTAACCGATTCTCATACCTTA 0.348 NA 3 17 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22170088 22170088 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:22170088C>T uc002nqp.2 - 3 305 c.156G>A c.(154-156)CTG>CTA p.L52L ZNF208_uc002nqo.1_Silent_p.L52L|ZNF208_uc002nqq.2_RNA NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAAAATGATCAGGTCTGGCT 0.398 NA 29 69 0 0 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:40580552T>G uc002omy.2 - 6 2022 c.1797A>C c.(1795-1797)CAA>CAC p.Q599H ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q599H|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q600H NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 599 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403 NA 4 325 0 0 0 0 RELB 5971 broad.mit.edu 37 19 45528913 45528913 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:45528913C>T uc002paj.1 + 8 930 c.804C>T c.(802-804)ATC>ATT p.I268I NM_006509 NP_006500 Q01201 RELB_HUMAN reticuloendotheliosis viral oncogene homolog B 268 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) TGGTGAGGATCTGCTTCCAGG 0.567 NA 93 141 0 0 0 0 TULP2 7288 broad.mit.edu 37 19 49398650 49398650 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:49398650C>T uc002pkz.2 - 5 473 c.322G>A c.(322-324)GGC>AGC p.G108S NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 108 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GTCGGGAGGCCGCGCTCGCCC 0.488 NA 80 126 0 0 0 0 CD33 945 broad.mit.edu 37 19 51742808 51742808 + Silent SNP T T A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:51742808T>A uc002pwa.2 + 7 1000 c.960T>A c.(958-960)ACT>ACA p.T320T CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Silent_p.T193T|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 320 Cytoplasmic (Potential). cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) ATGGCCCCACTGAAACCTCAA 0.522 NA 31 50 0 0 0 0 ZNF610 162963 broad.mit.edu 37 19 52856995 52856995 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:52856995G>C uc002pyx.3 + 4 530 c.124G>C c.(124-126)GAC>CAC p.D42H ZNF610_uc002pyy.3_Missense_Mutation_p.D42H|ZNF610_uc002pyz.3_Missense_Mutation_p.D42H|ZNF610_uc002pza.2_Missense_Mutation_p.D42H NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GAAATCCCTGGACCCTGGACA 0.493 NA 70 117 0 0 0 0 ZNF880 400713 broad.mit.edu 37 19 52887510 52887510 + Missense_Mutation SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:52887510A>T uc002pzc.2 + 4 726 c.677A>T c.(676-678)AAC>ATC p.N226I NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN zinc finger protein LOC400713 226 C2H2-type 2. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AACAGTTCAAACCTTGTACAA 0.388 NA 7 22 0 0 0 0 MBOAT7 79143 broad.mit.edu 37 19 54692109 54692109 + Silent SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:54692109G>C uc002qdq.2 - 4 434 c.168C>G c.(166-168)ACC>ACG p.T56T MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Silent_p.T38T|MBOAT7_uc002qdr.2_Silent_p.T56T|MBOAT7_uc002qds.2_Missense_Mutation_p.H26D|MBOAT7_uc010yen.1_Missense_Mutation_p.H26D|MBOAT7_uc002qdt.3_Silent_p.T56T|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank|TSEN34_uc002qdw.2_5'Flank NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 56 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCCCGAGGATGGTGACCAGAG 0.637 NA 70 108 0 0 0 0 BRSK1 84446 broad.mit.edu 37 19 55805389 55805389 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:55805389A>G uc002qkg.2 + 5 740 c.463A>G c.(463-465)AGA>GGA p.R155G BRSK1_uc002qkf.2_Missense_Mutation_p.R171G NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 155 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TCTCAGCCACAGAGACCTAAA 0.577 NA 110 229 0 0 0 0 DNAJC27 51277 broad.mit.edu 37 2 25186283 25186283 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:25186283G>T uc002rft.1 - 3 282 c.231C>A c.(229-231)TTC>TTA p.F77L DNAJC27_uc010ykn.1_Missense_Mutation_p.F6L|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Missense_Mutation_p.F77L NM_016544 NP_057628 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 77 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding skin(1) 1 CCTCATAGAAGAAGGGATGTC 0.368 NA 22 50 1.56e-14 1.74e-14 1 0 SLC4A1AP 22950 broad.mit.edu 37 2 27887203 27887203 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:27887203C>G uc002rlk.3 + 1 866 c.584C>G c.(583-585)TCT>TGT p.S195C SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 195 FHA. cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) GGGAGGCTGTCTGGCTGCGAC 0.632 NA 32 56 0 0 0 0 GPR75 10936 broad.mit.edu 37 2 54080671 54080671 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:54080671C>T uc002rxo.3 - 2 1494 c.1223G>A c.(1222-1224)CGA>CAA p.R408Q ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 408 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCCATGGCTCGAAGTCGAGT 0.448 NA 94 183 0 0 0 0 CCDC85A 114800 broad.mit.edu 37 2 56419779 56419779 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:56419779G>A uc002rzn.2 + 2 946 c.444G>A c.(442-444)CTG>CTA p.L148L NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 148 Potential. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGCAGAAGCTGAAAGACCTGG 0.572 NA 39 56 0 0 0 0 ACTR2 10097 broad.mit.edu 37 2 65473816 65473816 + Missense_Mutation SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:65473816A>T uc002sdq.2 + 3 533 c.318A>T c.(316-318)AAA>AAT p.K106N ACTR2_uc010yqf.1_Missense_Mutation_p.K51N|ACTR2_uc002sdp.2_Missense_Mutation_p.K111N|ACTR2_uc010yqg.1_Missense_Mutation_p.K54N NM_005722 NP_005713 P61160 ARP2_HUMAN actin-related protein 2 isoform b 106 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm actin binding|ATP binding 0 GAAATTGTAAAATCTTACTCA 0.368 NA 72 154 0 0 0 0 APLF 200558 broad.mit.edu 37 2 68765290 68765290 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:68765290C>T uc002sep.2 + 7 1264 c.1091C>T c.(1090-1092)TCA>TTA p.S364L APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.S340L|APLF_uc002ser.1_Missense_Mutation_p.S95L NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 364 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 GCAACTGATTCAGTTCTACAA 0.443 NA 64 88 0 0 0 0 EXOC6B 23233 broad.mit.edu 37 2 72945308 72945308 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:72945308G>A uc010fep.2 - 6 731 c.593C>T c.(592-594)TCT>TTT p.S198F EXOC6B_uc002sij.2_Missense_Mutation_p.S198F NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 198 protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 ATCGGACATAGAAACATCTTT 0.438 NA 56 104 0 0 0 0 YSK4 80122 broad.mit.edu 37 2 135745305 135745305 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:135745305G>A uc002tue.1 - 7 1168 c.1137C>T c.(1135-1137)AAC>AAT p.N379N YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.N266N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.N107N|YSK4_uc002tui.3_Silent_p.N396N NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 379 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CTTGTTCATAGTTTTTGGCTA 0.378 NA 56 99 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141072662 141072662 + Nonsense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:141072662G>T uc002tvj.1 - 83 13619 c.12647C>A c.(12646-12648)TCA>TAA p.S4216* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4216 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) TAACTTACATGAATCATCTGT 0.303 NA TSP Lung(27;0.18) 27 62 3.29e-13 3.64e-13 1 0 CERKL 375298 broad.mit.edu 37 2 182468677 182468677 + Missense_Mutation SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:182468677A>T uc002unx.2 - 2 469 c.368T>A c.(367-369)TTC>TAC p.F123Y CERKL_uc002uny.2_Missense_Mutation_p.F123Y|CERKL_uc010zfm.1_Missense_Mutation_p.F123Y|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.F123Y|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Missense_Mutation_p.F123Y|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Missense_Mutation_p.F123Y NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 123 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) CAAGCAGATGAAGAGTGTGAT 0.333 NA 11 60 0 0 0 0 FAM171B 165215 broad.mit.edu 37 2 187626381 187626381 + Nonsense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:187626381C>T uc002ups.2 + 8 1424 c.1312C>T c.(1312-1314)CAG>TAG p.Q438* FAM171B_uc002upr.1_Intron|FAM171B_uc002upt.2_5'Flank NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 438 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 ATATAGTCCTCAGAAAAAGGA 0.348 NA 41 91 0 0 0 0 MARS2 92935 broad.mit.edu 37 2 198570720 198570720 + Silent SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:198570720C>G uc002uuq.2 + 1 634 c.591C>G c.(589-591)CTC>CTG p.L197L uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 197 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) CTGTATCTCTCGAGAGCGGGC 0.587 NA 57 119 0 0 0 0 CHPF 79586 broad.mit.edu 37 2 220404983 220404983 + Nonsense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:220404983G>A uc002vmc.3 - 4 1677 c.1450C>T c.(1450-1452)CGA>TGA p.R484* CHPF_uc010zlh.1_Nonsense_Mutation_p.R322* NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 484 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AGCTGCACTCGGCGAGTGAGG 0.667 NA 14 32 0 0 0 0 CAPN10 11132 broad.mit.edu 37 2 241535795 241535795 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:241535795C>T uc002vzk.1 + 8 1522 c.1338C>T c.(1336-1338)ACC>ACT p.T446T CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.T318T|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 446 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TGGCTGGCACCGCGTGCCATG 0.667 NA 4 193 0 0 0 0 TRIB3 57761 broad.mit.edu 37 20 377164 377164 + Silent SNP C C A rs139447354 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:377164C>A uc002wdm.2 + 4 1413 c.907C>A c.(907-909)CGG>AGG p.R303R TRIB3_uc002wdn.2_Silent_p.R330R NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 303 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GCCAGCTGAACGGCTCACAGC 0.687 NA 69 120 5.26e-25 6.03e-25 1 0 SNRPB 6628 broad.mit.edu 37 20 2443871 2443871 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:2443871C>T uc002wfz.1 - 5 586 c.423G>A c.(421-423)GTG>GTA p.V141V SNRPB_uc002wga.1_Silent_p.V141V|SNRPB_uc010zpv.1_Silent_p.V62V|SNRPB_uc002wgb.2_Silent_p.V141V|SNORD119_uc010gam.1_5'Flank NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 141 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 GTGGGGTCATCACCTAAGAGG 0.552 NA 8 68 0 0 0 0 C20orf194 25943 broad.mit.edu 37 20 3297377 3297377 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:3297377G>A uc002wii.2 - 18 1583 c.1532C>T c.(1531-1533)TCC>TTC p.S511F C20orf194_uc002wij.3_Missense_Mutation_p.S250F|C20orf194_uc002wik.2_Missense_Mutation_p.S185F NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 511 0 AACCAGCCAGGAGCAGAATCT 0.527 NA 21 42 0 0 0 0 UQCC 55245 broad.mit.edu 37 20 33999835 33999835 + Splice_Site SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:33999835C>T uc002xcd.2 - 1 1 c.-66_splice c.e1-1 UQCC_uc010zuz.1_Splice_Site|UQCC_uc010zva.1_Splice_Site|UQCC_uc002xce.2_Splice_Site|UQCC_uc002xcg.2_Splice_Site|UQCC_uc010gfb.2_Splice_Site|UQCC_uc010zvb.1_Splice_Site|UQCC_uc002xcf.2_Splice_Site|GDF5_uc010gfc.1_Intron|UQCC_uc010gfd.1_Splice_Site NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCTCCTTTTGCCGGCGAAAGA 0.597 NA 3 65 0 0 0 0 ACTR5 79913 broad.mit.edu 37 20 37400305 37400305 + Missense_Mutation SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:37400305A>T uc002xjd.2 + 9 1695 c.1670A>T c.(1669-1671)TAT>TTT p.Y557F NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 557 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) AGGAAAGAGTATGAAGAAAAG 0.547 NA 59 84 0 0 0 0 CD40 958 broad.mit.edu 37 20 44756820 44756820 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:44756820C>G uc002xrg.1 + 7 680 c.603C>G c.(601-603)ATC>ATG p.I201M CD40_uc002xrh.1_Missense_Mutation_p.L181V|CD40_uc002xri.1_Missense_Mutation_p.L215V|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA NM_001250 NP_001241 P25942 TNR5_HUMAN CD40 antigen isoform 1 precursor 201 Helical; (Potential). B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity lung(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) TCCCCATCATCTTCGGGATCC 0.567 NA Immune_Deficiency_with_Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 144 0 0 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19651350 19651350 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:19651350C>T uc002ykw.2 - 23 2726 c.2695G>A c.(2695-2697)GAA>AAA p.E899K NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 899 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TGATTTTCTTCCGGTAAACAA 0.323 NA 32 62 0 0 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338490 28338490 + Missense_Mutation SNP A A C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:28338490A>C uc002ymg.2 - 1 950 c.221T>G c.(220-222)GTG>GGG p.V74G NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 74 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GATGTTCTGCACCAGCCCCTT 0.726 NA 9 101 0 0 0 0 ITSN1 6453 broad.mit.edu 37 21 35166729 35166729 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:35166729C>G uc002yta.1 + 17 2177 c.1909C>G c.(1909-1911)CGA>GGA p.R637G DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.R637G|ITSN1_uc010gmg.2_Missense_Mutation_p.R600G|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.R637G|ITSN1_uc010gmi.2_Missense_Mutation_p.R600G|ITSN1_uc010gmj.2_Missense_Mutation_p.R521G|ITSN1_uc002ysy.2_Missense_Mutation_p.R637G|ITSN1_uc002ysx.2_Missense_Mutation_p.R600G|ITSN1_uc002ytb.1_Missense_Mutation_p.R637G|ITSN1_uc002ytc.1_Missense_Mutation_p.R637G|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.R600G|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.R637G|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.R571G NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 637 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 AGAACAAGAACGAAAGATCAT 0.373 NA 48 84 0 0 0 0 LCA5L 150082 broad.mit.edu 37 21 40778524 40778524 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:40778524C>T uc002yxu.2 - 10 1610 c.1297G>A c.(1297-1299)GAG>AAG p.E433K LCA5L_uc002yxv.2_Missense_Mutation_p.E433K NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 433 Potential. 0 Prostate(19;1.2e-06) AAATGTTTCTCTTCCCCTGAT 0.333 NA 59 132 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47851584 47851584 + Nonsense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:47851584G>T uc002zji.3 + 38 8313 c.8206G>T c.(8206-8208)GAG>TAG p.E2736* PCNT_uc002zjj.2_Nonsense_Mutation_p.E2618* NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2736 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GCTGGCTCAGGAGCGGAGCCA 0.637 NA 18 53 1.56e-12 1.72e-12 1 0 PCNT 5116 broad.mit.edu 37 21 47852115 47852115 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:47852115G>C uc002zji.3 + 38 8844 c.8737G>C c.(8737-8739)GAC>CAC p.D2913H PCNT_uc002zjj.2_Intron NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2913 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GTGGCAGAGAGACAAGGAGAA 0.602 NA 6 7 0 0 0 0 ISX 91464 broad.mit.edu 37 22 35481475 35481475 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:35481475G>A uc003anj.2 + 4 1478 c.527G>A c.(526-528)CGC>CAC p.R176H ISX_uc011amg.1_Missense_Mutation_p.R164H NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 176 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 ACTGCTCTGCGCAGGCTGGCT 0.617 NA 5 261 0 0 0 0 TNRC6B 23112 broad.mit.edu 37 22 40697290 40697290 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:40697290G>A uc011aor.1 + 15 4284 c.4073G>A c.(4072-4074)GGG>GAG p.G1358E TNRC6B_uc003aym.2_Missense_Mutation_p.G554E|TNRC6B_uc003ayn.3_Missense_Mutation_p.G1248E|TNRC6B_uc003ayo.2_Missense_Mutation_p.G1105E NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 1358 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 TTGAATGTGGGGCTCCCAGAC 0.423 NA 12 17 0 0 0 0 TCF20 6942 broad.mit.edu 37 22 42610152 42610152 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:42610152G>A uc003bcj.1 - 1 1294 c.1160C>T c.(1159-1161)TCT>TTT p.S387F TCF20_uc003bck.1_Missense_Mutation_p.S387F|TCF20_uc003bnt.2_Missense_Mutation_p.S387F NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CATGAGAGGAGATGGGGTAGA 0.512 NA 62 147 0 0 0 0 GRM7 2917 broad.mit.edu 37 3 7188164 7188164 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:7188164C>T uc003bqm.2 + 2 819 c.545C>T c.(544-546)ACG>ATG p.T182M GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.T182M|GRM7_uc003bql.2_Missense_Mutation_p.T182M NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 182 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TATGCATCAACGGCACCCGAG 0.502 NA 64 56 0 0 0 0 RAB5A 5868 broad.mit.edu 37 3 20025262 20025262 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:20025262G>A uc003cbn.2 + 6 1130 c.595G>A c.(595-597)GTA>ATA p.V199I RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.V185I|C3orf48_uc010hez.2_Intron NM_004162 NP_004153 P20339 RAB5A_HUMAN RAB5A, member RAS oncogene family 199 blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GDP binding|GTP binding|GTPase activity 0 AGGAAGAGGAGTAGACCTTAC 0.368 NA 9 16 0 0 0 0 UBP1 7342 broad.mit.edu 37 3 33481236 33481236 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:33481236G>A uc003cfq.3 - 1 635 c.105C>T c.(103-105)TAC>TAT p.Y35Y UBP1_uc003cfr.3_Silent_p.Y35Y|UBP1_uc010hga.2_Silent_p.Y35Y NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) isoform a 35 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity kidney(2) 2 ACCTCATGCTGTAAGCGCCGG 0.667 NA 33 27 0 0 0 0 SCN11A 11280 broad.mit.edu 37 3 38888755 38888755 + Silent SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:38888755C>A uc011ays.1 - 26 5005 c.4806G>T c.(4804-4806)GTG>GTT p.V1602V NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1602 IV.|Helical; Name=S6 of repeat IV; (By similarity). response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTCTAAAATCACAGCAATGT 0.413 NA 4 148 0.00024832 0.000262325 1 0 ULK4 54986 broad.mit.edu 37 3 41877374 41877374 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:41877374G>C uc003ckv.3 - 18 1947 c.1746C>G c.(1744-1746)ATC>ATG p.I582M ULK4_uc003ckw.2_Missense_Mutation_p.I582M NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 582 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTACAAGATAGATCAGCTCCC 0.393 NA 4 166 0 0 0 0 PDE12 201626 broad.mit.edu 37 3 57543358 57543358 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:57543358C>G uc003diw.3 + 1 1378 c.1252C>G c.(1252-1254)CTA>GTA p.L418V PDE12_uc003div.2_Missense_Mutation_p.L418V NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 418 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) GCTGGAGAAACTAGTTTTGTA 0.468 NA 50 41 0 0 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100262 121100262 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:121100262A>G uc003eec.3 + 23 2682 c.2542A>G c.(2542-2544)ACC>GCC p.T848A STXBP5L_uc011bji.1_Missense_Mutation_p.T824A NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 848 WD 11. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AAATGACTCTACCATCTCTCC 0.408 NA 108 263 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 151148153 151148153 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:151148153C>G uc003eyp.2 + 42 6408 c.6370C>G c.(6370-6372)CAG>GAG p.Q2124E MED12L_uc011bnz.1_Missense_Mutation_p.Q1788E NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 2124 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCGGCAGCTCCAGAAGCAGCT 0.537 NA 47 150 0 0 0 0 P2RY1 5028 broad.mit.edu 37 3 152554038 152554038 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:152554038C>T uc003ezq.2 + 1 1303 c.467C>T c.(466-468)CCC>CTC p.P156L NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 156 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GTGGTGTACCCCCTCAAGTCC 0.527 NA 31 135 0 0 0 0 P2RY1 5028 broad.mit.edu 37 3 152554042 152554042 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:152554042C>T uc003ezq.2 + 1 1307 c.471C>T c.(469-471)CTC>CTT p.L157L NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 157 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TGTACCCCCTCAAGTCCCTGG 0.532 NA 31 138 0 0 0 0 P2RY1 5028 broad.mit.edu 37 3 152554482 152554482 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:152554482C>T uc003ezq.2 + 1 1747 c.911C>T c.(910-912)GCC>GTC p.A304V NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 304 Helical; Name=7; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AGGGTTTATGCCACGTATCAG 0.478 NA 5 264 0 0 0 0 VEPH1 79674 broad.mit.edu 37 3 156979086 156979086 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:156979086C>A uc003fbj.1 - 14 2656 c.2339G>T c.(2338-2340)AGG>ATG p.R780M VEPH1_uc003fbk.1_Missense_Mutation_p.R780M|VEPH1_uc010hvu.1_Missense_Mutation_p.R735M NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 780 PH. plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) AGAGCGGTCCCTGCGTTTCTT 0.483 NA 4 226 0.000602214 0.000633431 1 0 SERPINI2 5276 broad.mit.edu 37 3 167167167 167167167 + Nonsense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:167167167G>A uc003fer.1 - 6 1046 c.988C>T c.(988-990)CAA>TAA p.Q330* SERPINI2_uc003fes.1_Nonsense_Mutation_p.Q340*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.Q330* NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 330 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 TGCGTCACTTGGGAAACATAC 0.338 NA 3 89 0 0 0 0 KLHL6 89857 broad.mit.edu 37 3 183225976 183225976 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:183225976G>A uc003flr.2 - 3 838 c.780C>T c.(778-780)AAC>AAT p.N260N KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.N258N NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 260 BACK. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GTAAGCGCACGTTCTCGAGGA 0.522 NA 89 217 0 0 0 0 BOD1L 259282 broad.mit.edu 37 4 13602595 13602595 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr4:13602595C>G uc003gmz.1 - 10 6046 c.5929G>C c.(5929-5931)GGT>CGT p.G1977R BOD1L_uc010idr.1_Missense_Mutation_p.G1314R NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1977 DNA binding ovary(5)|breast(1) 6 GTCATAGGACCCTCACAACCT 0.483 NA 44 51 0 0 0 0 REST 5978 broad.mit.edu 37 4 57785989 57785989 + Nonsense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr4:57785989C>G uc003hch.2 + 3 1282 c.935C>G c.(934-936)TCA>TGA p.S312* REST_uc003hci.2_Nonsense_Mutation_p.S312*|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 312 C2H2-type 5. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) TGTCCTTACTCAAGTTCTCAG 0.328 NA 40 44 0 0 0 0 CENPE 1062 broad.mit.edu 37 4 104068527 104068527 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr4:104068527C>T uc003hxb.1 - 29 4210 c.4120G>A c.(4120-4122)GAA>AAA p.E1374K CENPE_uc003hxc.1_Missense_Mutation_p.E1349K NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1374 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GCCAAAGTTTCTCTAATATGT 0.323 NA 7 100 0 0 0 0 IRX4 50805 broad.mit.edu 37 5 1879734 1879734 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:1879734G>T uc003jcz.2 - 4 739 c.620C>A c.(619-621)ACG>AAG p.T207K IRX4_uc011cmf.1_Missense_Mutation_p.T68K NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 207 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) CGGCGGCCACGTCATCTTGTT 0.478 NA 35 73 1.07e-15 1.2e-15 1 0 ADCY2 108 broad.mit.edu 37 5 7802384 7802384 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:7802384G>A uc003jdz.1 + 21 2749 c.2682G>A c.(2680-2682)CCG>CCA p.P894P ADCY2_uc011cmo.1_Silent_p.P714P|ADCY2_uc010itm.1_Silent_p.P90P NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 894 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CCTCCATTCCGGATTTCAAAG 0.473 NA 32 53 0 0 0 0 FBXL7 23194 broad.mit.edu 37 5 15928296 15928296 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:15928296G>A uc003jfn.1 + 3 906 c.425G>A c.(424-426)CGC>CAC p.R142H NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 142 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CGAGTGTGCCGCCGCTGGTAC 0.672 NA 9 15 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24509693 24509693 + Missense_Mutation SNP G G C rs1395027 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:24509693G>C uc003jgr.1 - 7 1570 c.1238C>G c.(1237-1239)TCT>TGT p.S413C CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 413 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GCTGGAAATAGAATCTGGGTC 0.294 NA HNSCC(23;0.051) 43 75 0 0 0 0 MRPS30 10884 broad.mit.edu 37 5 44813211 44813211 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:44813211C>T uc003joh.2 + 4 895 c.857C>T c.(856-858)TCA>TTA p.S286L NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 286 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) TCTTCAGGCTCAAAAACTGCA 0.373 NA 21 128 0 0 0 0 PDE4D 5144 broad.mit.edu 37 5 59284492 59284492 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:59284492C>T uc003jsb.2 - 3 308 c.95G>A c.(94-96)GGA>GAA p.G32E PDE4D_uc010iwj.1_Missense_Mutation_p.G32E|PDE4D_uc003jse.1_Missense_Mutation_p.G44E NM_006203 NP_006194 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 2 Error:Variant_position_missing_in_Q08499_after_alignment signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GGGTTCCATTCCGCGGAAAGG 0.428 NA 56 126 0 0 0 0 SV2C 22987 broad.mit.edu 37 5 75621244 75621244 + Missense_Mutation SNP A A C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:75621244A>C uc003kei.1 + 13 2190 c.2056A>C c.(2056-2058)AAC>CAC p.N686H NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 686 Helical; (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CGTCCTGGGAAACTTAATATT 0.522 NA 82 138 0 0 0 0 KCNN2 3781 broad.mit.edu 37 5 113831873 113831873 + Silent SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:113831873T>C uc003kqo.2 + 8 2191 c.1734T>C c.(1732-1734)AGT>AGC p.S578S KCNN2_uc003kqp.2_Silent_p.S230S|KCNN2_uc010jcg.2_RNA|uc003kqr.1_RNA NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 578 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CATCAGAGAGTAGCTAGAAGA 0.458 NA 3 192 0 0 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630361 131630361 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:131630361C>G uc003kwq.2 + 1 217 c.52C>G c.(52-54)CAG>GAG p.Q18E uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 18 Cytoplasmic (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GGGGCCCTTCCAGCGCCTCAT 0.617 NA 26 58 0 0 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630460 131630460 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:131630460C>G uc003kwq.2 + 1 316 c.151C>G c.(151-153)CGA>GGA p.R51G uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 51 Extracellular (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GCACCGCTGTCGAGTGCCGGA 0.672 NA 24 47 0 0 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481978 140481978 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:140481978C>T uc003lio.2 + 1 1745 c.1745C>T c.(1744-1746)CCG>CTG p.P582L uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 582 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCTGAGCCGGGCTACCTG 0.701 NA 63 115 0 0 0 0 C6orf146 222826 broad.mit.edu 37 6 4069240 4069240 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr6:4069240G>C uc003mvx.2 - 7 1557 c.1217C>G c.(1216-1218)TCT>TGT p.S406C C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.S343C NM_173563 NP_775834 Q8IXS0 CF146_HUMAN hypothetical protein LOC222826 406 ovary(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) ACTTAAAATAGAACTTTTGGG 0.368 NA 74 50 0 0 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570125 22570125 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr6:22570125G>A uc003nds.2 + 1 448 c.321G>A c.(319-321)CCG>CCA p.P107P NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 107 0 Ovarian(93;0.163) GGCCTTGGCCGGAGCCCGAGG 0.687 NA 2 3 0 0 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33402927 33402927 + Splice_Site SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr6:33402927A>T uc011dri.1 + 6 705 c.510_splice c.e6-2 p.R170_splice SYNGAP1_uc003oeo.1_Splice_Site_p.R155_splice|SYNGAP1_uc010juy.2_Splice_Site_p.R155_splice|SYNGAP1_uc010juz.2_5'Flank NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 CCTGCCTGCCAGGGCCCGGCT 0.403 NA 4 158 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82582957 82582957 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:82582957G>A uc003uhx.2 - 5 7601 c.7312C>T c.(7312-7314)CTT>TTT p.L2438F PCLO_uc003uhv.2_Missense_Mutation_p.L2438F|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2369 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTTTAGGAAGAATAGTTGGT 0.249 NA 13 11 0 0 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757768 99757768 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:99757768T>C uc003utt.2 - 3 2261 c.1244A>G c.(1243-1245)GAC>GGC p.D415G C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.D415G|GAL3ST4_uc010lgq.2_Missense_Mutation_p.D353G NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 415 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTATTTGGGGTCAGAAGCCTC 0.587 NA 75 343 0 0 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102743965 102743965 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:102743965G>C uc003vbc.2 - 5 1421 c.1093C>G c.(1093-1095)CTA>GTA p.L365V NAPEPLD_uc003vbd.2_Missense_Mutation_p.L365V|NAPEPLD_uc011klj.1_Missense_Mutation_p.L438V|NAPEPLD_uc003vbe.2_RNA NM_198990 NP_945341 Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 365 phospholipid catabolic process membrane metal ion binding skin(1) 1 TATCTCTCTAGAGCTTCATTC 0.333 NA 51 185 0 0 0 0 DNAJC2 27000 broad.mit.edu 37 7 102953456 102953456 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:102953456A>G uc003vbo.2 - 16 1980 c.1729T>C c.(1729-1731)TGG>CGG p.W577R PMPCB_uc003vbl.2_3'UTR|PMPCB_uc003vbm.2_3'UTR|PMPCB_uc010liv.2_3'UTR|PMPCB_uc010liw.2_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Missense_Mutation_p.W202R|DNAJC2_uc010lix.2_Missense_Mutation_p.W524R|DNAJC2_uc003vbp.2_Missense_Mutation_p.W202R NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 577 SANT 2. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 ATTTTTTCCCATCTTTCAGGT 0.398 NA 141 667 0 0 0 0 PSMC2 5701 broad.mit.edu 37 7 102988177 102988178 + Missense_Mutation DNP GC GC TT TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:102988177_102988178GC>TT uc003vbs.2 + 1 89_90 c.19_20GC>TT c.(19-21)GCC>TTC p.A7F DNAJC2_uc003vbo.2_5'Flank|DNAJC2_uc010lix.2_5'Flank|DNAJC2_uc003vbp.2_5'Flank|DNAJC2_uc003vbq.1_5'Flank|DNAJC2_uc003vbr.1_5'Flank|PSMC2_uc011kln.1_Missense_Mutation_p.A7F|PSMC2_uc011klo.1_5'UTR NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 7 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TTACCTCGGTGCCGATCAGCGG 0.579 NA 35 270 0 0 0 0 MFHAS1 9258 broad.mit.edu 37 8 8748457 8748457 + Silent SNP G G A rs150651778 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:8748457G>A uc003wsj.1 - 1 2675 c.2112C>T c.(2110-2112)CTC>CTT p.L704L NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 704 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GCAGGTAGGAGAGGGCACTCT 0.627 NA 26 40 0 0 0 0 MFHAS1 9258 broad.mit.edu 37 8 8748738 8748738 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:8748738G>C uc003wsj.1 - 1 2394 c.1831C>G c.(1831-1833)CAA>GAA p.Q611E NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 611 Roc. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) AGCAGGTATTGAAAATGGGCC 0.627 NA 49 97 0 0 0 0 SCARA5 286133 broad.mit.edu 37 8 27737157 27737157 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:27737157C>T uc003xgj.2 - 8 1720 c.1280G>A c.(1279-1281)GGA>GAA p.G427E SCARA5_uc010luz.2_Missense_Mutation_p.G202E NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 427 SRCR.|Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CACCACGTCTCCGTCCTTCTT 0.637 NA 74 151 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113267588 113267588 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:113267588A>G uc003ynu.2 - 62 10090 c.9931T>C c.(9931-9933)TCA>CCA p.S3311P CSMD3_uc003yns.2_Missense_Mutation_p.S2513P|CSMD3_uc003ynt.2_Missense_Mutation_p.S3271P|CSMD3_uc011lhx.1_Missense_Mutation_p.S3142P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3311 Extracellular (Potential).|Sushi 26. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GAAACCTCTGACTGGTATATA 0.413 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 49 88 0 0 0 0 FAM83H 286077 broad.mit.edu 37 8 144812752 144812752 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:144812752T>C uc003yzk.2 - 2 70 c.1A>G c.(1-3)ATG>GTG p.M1V FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 1 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CGACGGGCCATGTTGGGGCCA 0.657 NA 12 25 0 0 0 0 SMARCA2 6595 broad.mit.edu 37 9 2097460 2097460 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr9:2097460C>A uc003zhc.2 + 21 3166 c.3067C>A c.(3067-3069)CAG>AAG p.Q1023K SMARCA2_uc003zhd.2_Missense_Mutation_p.Q1023K|SMARCA2_uc010mha.2_Missense_Mutation_p.Q956K NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1023 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATATATGTTTCAGCACATTGA 0.353 NA 64 50 2.1e-13 2.33e-13 1 0 BAT2L1 84726 broad.mit.edu 37 9 134350562 134350562 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr9:134350562G>A uc004can.3 + 15 3101 c.3046G>A c.(3046-3048)GAG>AAG p.E1016K BAT2L1_uc010mzj.1_Missense_Mutation_p.E599K|BAT2L1_uc004cao.3_Missense_Mutation_p.E374K NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1016 protein binding 0 TTTTGGCCGCGAGGCCACCAA 0.562 NA 20 10 0 0 0 0 UBAC1 10422 broad.mit.edu 37 9 138825301 138825301 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr9:138825301G>A uc004cgt.2 - 10 1381 c.1163C>T c.(1162-1164)ACG>ATG p.T388M UBAC1_uc004cgs.1_Intron|UBAC1_uc004cgu.2_RNA NM_016172 NP_057256 Q9BSL1 UBAC1_HUMAN ubiquitin associated domain containing 1 388 STI1. Golgi apparatus|plasma membrane protein binding skin(2) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) GACAGGCCCCGTTTCTGGATC 0.562 NA 86 62 0 0 0 0 EHMT1 79813 broad.mit.edu 37 9 140708936 140708936 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr9:140708936C>T uc011mfc.1 + 22 3271 c.3234C>T c.(3232-3234)CTC>CTT p.L1078L EHMT1_uc004coe.2_5'Flank NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1078 Pre-SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GCGGCCAGCTCAGCATGCGCT 0.642 NA 48 32 0 0 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821254 5821254 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:5821254G>T uc010ndh.2 - 5 1966 c.1465C>A c.(1465-1467)CAT>AAT p.H489N NLGN4X_uc004crp.2_Missense_Mutation_p.H509N|NLGN4X_uc004crq.2_Missense_Mutation_p.H489N|NLGN4X_uc010ndi.2_Missense_Mutation_p.H526N|NLGN4X_uc004crr.2_Missense_Mutation_p.H489N|NLGN4X_uc010ndj.2_Missense_Mutation_p.H489N NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 489 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCATCACCATGGGCCGAATCT 0.572 NA 51 16 2.14e-21 2.43e-21 1 0 FAM47C 442444 broad.mit.edu 37 X 37028587 37028587 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:37028587C>T uc004ddl.1 + 1 2118 c.2104C>T c.(2104-2106)CTC>TTC p.L702F NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 702 ovary(3) 3 AGTGTCCCGTCTCCACCCAGA 0.642 NA 61 33 0 0 0 0 DUSP21 63904 broad.mit.edu 37 X 44703874 44703874 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:44703874G>T uc004dgd.2 + 1 626 c.496G>T c.(496-498)GTG>TTG p.V166L NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 166 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 TAACAACACCGTGCGCATGAT 0.507 NA 37 19 7.53e-24 8.59e-24 1 0 TBX22 50945 broad.mit.edu 37 X 79281105 79281105 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:79281105C>T uc010nmg.1 + 5 596 c.462C>T c.(460-462)TAC>TAT p.Y154Y TBX22_uc004edi.1_Silent_p.Y34Y|TBX22_uc004edj.1_Silent_p.Y154Y NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 154 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 TTTTCAGGTACGTCTATCACA 0.502 NA 25 23 0 0 0 0 PABPC5 140886 broad.mit.edu 37 X 90690655 90690656 + Missense_Mutation DNP CC CC AA TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:90690655_90690656CC>AA uc004efg.2 + 2 519_520 c.79_80CC>AA c.(79-81)CCA>AAA p.P27K PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 27 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TGACTTGGACCCAGATGTCACC 0.594 NA 21 7 0 0 0 0 CNGA2 1260 broad.mit.edu 37 X 150911736 150911736 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:150911736C>T uc004fey.1 + 7 985 c.761C>T c.(760-762)GCC>GTC p.A254V NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 254 Extracellular (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTGCACTTTGCCCGCATGTTT 0.522 NA 4 126 0 0 0 0 RPL10 6134 broad.mit.edu 37 X 153628938 153628938 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:153628938G>A uc004fkm.2 + 6 651 c.463G>A c.(463-465)GCC>ACC p.A155T uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.A155T|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.A80T NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 155 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGCGCAGGGCCAAGTTCAA 0.582 NA 4 114 0 0 0 0 SLC16A12 387700 broad.mit.edu 37 10 91203593 91203605 + Frame_Shift_Del DEL TCCACAAAAAAAA TCCACAAAAAAAA - TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:91203593_91203605delTCCACAAAAAAAA uc001kgm.2 - 4 513_525 c.122_134delTTTTTTTTGTGGA c.(121-135)ATTTTTTTTGTGGAGfs p.I41fs NM_213606 NP_998771 Q6ZSM3 MOT12_HUMAN solute carrier family 16 (monocarboxylic acid 41_45 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity skin(1) 1 TGTCTGGAACTCCACAAAAAAAATTGAGATACA 0.371 NA 12 73 --- --- --- --- NA NA NA NA FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:35940788_35940790delCTG uc002nzg.2 + 2 252_254 c.172_174delCTG c.(172-174)CTGdel p.L62del FFAR2_uc010eea.2_In_Frame_Del_p.L62del NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 62 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 NA 8 90 --- --- --- --- NA NA NA NA SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:51961617_51961619delGCA uc002pwt.2 - 1 90_92 c.23_25delTGC c.(22-27)CTGCCC>CCC p.L8del SIGLEC8_uc010yda.1_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.493 NA 7 140 --- --- --- --- NA NA NA NA