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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut TMEM82 388595 broad.mit.edu 37 1 16069342 16069342 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:16069342C>T uc001axc.2 + 2 239 c.101C>T c.(100-102)GCC>GTC p.A34V NM_001013641 NP_001013663 A0PJX8 TMM82_HUMAN transmembrane protein 82 34 Leu-rich.|Helical; (Potential). integral to membrane breast(1)|central_nervous_system(1) 2 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGATCGGGGCCCTTGGAGTC 0.642 NA 13 35 0 0 0.105934 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17949602 17949602 + Missense_Mutation SNP A A T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:17949602A>T uc001ban.2 + 12 1291 c.1132A>T c.(1132-1134)ATC>TTC p.I378F ARHGEF10L_uc009vpe.1_Missense_Mutation_p.I339F|ARHGEF10L_uc001bao.2_Missense_Mutation_p.I339F|ARHGEF10L_uc001bap.2_Missense_Mutation_p.I339F|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.I136F|ARHGEF10L_uc001baq.2_Missense_Mutation_p.I144F|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.I156F|ARHGEF10L_uc001bar.2_Missense_Mutation_p.I156F|ARHGEF10L_uc009vpf.2_5'Flank NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 378 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CATGTTCCAGATCGCCCTGTC 0.622 NA 40 54 0 0 0.104719 0 0 PTPRF 5792 broad.mit.edu 37 1 44057085 44057085 + Silent SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:44057085G>A uc001cjr.2 + 9 1732 c.1392G>A c.(1390-1392)AAG>AAA p.K464K PTPRF_uc001cjs.2_Silent_p.K464K|PTPRF_uc001cju.2_Silent_p.K35K|PTPRF_uc009vwt.2_Silent_p.K35K|PTPRF_uc001cjv.2_Silent_p.K35K NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 464 Extracellular (Potential).|Fibronectin type-III 2. 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) CCTGGCACAAGCACAACACCG 0.697 NA 5 11 0 0 0.021553 0 0 LRRC7 57554 broad.mit.edu 37 1 70488886 70488886 + Nonsense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:70488886C>A uc001dep.2 + 15 1539 c.1509C>A c.(1507-1509)TGC>TGA p.C503* LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 503 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CTGGCGATTGCTGCACACCAT 0.582 NA 21 55 5.26018e-13 6.56868e-13 0.062417 1 0 CLCA2 9635 broad.mit.edu 37 1 86898148 86898148 + Silent SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:86898148C>T uc001dlr.3 + 5 843 c.681C>T c.(679-681)ACC>ACT p.T227T NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 227 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) AAGGATGCACCTTTATCTACA 0.378 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 31 37 0 0 0.050027 0 0 EVI5 7813 broad.mit.edu 37 1 93089858 93089858 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:93089858C>A uc001dox.2 - 14 1664 c.1654G>T c.(1654-1656)GAC>TAC p.D552Y EVI5_uc010otf.1_Missense_Mutation_p.D563Y|EVI5_uc001doy.1_RNA NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 552 Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TTGGGTGGGTCTTTCCATCTC 0.323 NA 5 40 8.12818e-05 8.71869e-05 0.02938 1 0 COL11A1 1301 broad.mit.edu 37 1 103477982 103477982 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:103477982C>A uc001dul.2 - 14 1934 c.1616G>T c.(1615-1617)AGA>ATA p.R539I COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.R551I|COL11A1_uc001dun.2_Missense_Mutation_p.R500I|COL11A1_uc009weh.2_Missense_Mutation_p.R423I NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 539 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGACCTGGTCTTCCAGTTAG 0.398 NA 4 17 1.024e-07 1.17363e-07 0.014758 1 0 ZNF687 57592 broad.mit.edu 37 1 151259952 151259952 + Silent SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:151259952G>A uc001exq.2 + 2 1283 c.1185G>A c.(1183-1185)AGG>AGA p.R395R ZNF687_uc001exp.1_Silent_p.R404R|ZNF687_uc009wmo.2_Silent_p.R395R|ZNF687_uc009wmp.2_Silent_p.R395R NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATGGTACAAGGCTGAAAGGCA 0.597 NA 29 78 0 0 0.037714 0 0 FLG 2312 broad.mit.edu 37 1 152286349 152286349 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:152286349G>T uc001ezu.1 - 3 1049 c.1013C>A c.(1012-1014)TCC>TAC p.S338Y uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 338 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCATCATGGGACCTGGGGTG 0.562 NA Ichthyosis 120 168 1.34936e-44 1.9135e-44 0.048971 1 0 KPRP 448834 broad.mit.edu 37 1 152733434 152733434 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:152733434T>C uc001fal.1 + 2 1428 c.1370T>C c.(1369-1371)ATT>ACT p.I457T NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 457 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGTGTGAGATTCCAGAGCCA 0.622 NA 81 143 0 0 0.048971 0 0 TDRD10 126668 broad.mit.edu 37 1 154516513 154516513 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:154516513G>T uc009wow.2 + 9 1416 c.578G>T c.(577-579)CGT>CTT p.R193L TDRD10_uc001ffd.2_Missense_Mutation_p.R193L|TDRD10_uc001ffe.2_Missense_Mutation_p.R114L NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 193 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CATAGCGTCCGTGGGGAGGCG 0.617 NA 80 125 1.47272e-24 2.01996e-24 0.048971 1 0 RIT1 6016 broad.mit.edu 37 1 155874285 155874285 + Missense_Mutation SNP A A C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:155874285A>C uc001fmh.1 - 5 433 c.246T>G c.(244-246)TTT>TTG p.F82L RIT1_uc010pgr.1_Missense_Mutation_p.F46L NM_006912 NP_008843 Q92963 RIT1_HUMAN Ras-like without CAAX 1 82 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) GCATGGCTGTAAACTCTGCCT 0.423 NA 17 24 0 0 0.028581 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155935547 155935547 + Silent SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:155935547G>A uc001fmt.2 - 5 463 c.345C>T c.(343-345)ACC>ACT p.T115T ARHGEF2_uc001fmr.2_Silent_p.T88T|ARHGEF2_uc001fms.2_Silent_p.T115T|ARHGEF2_uc001fmu.2_Silent_p.T160T|ARHGEF2_uc010pgt.1_Silent_p.T88T|ARHGEF2_uc010pgu.1_Silent_p.T160T NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 115 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GCTCCCGGATGGTTGCTGTGG 0.622 Melanoma(178;35 2768 6610 28839) NA 24 40 0 0 0.069288 0 0 SPTA1 6708 broad.mit.edu 37 1 158609691 158609691 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:158609691C>A uc001fst.1 - 34 5043 c.4844G>T c.(4843-4845)AGC>ATC p.S1615I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1615 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTCCCGGATGCTTGTGTTGAA 0.448 NA 40 68 4.00102e-26 5.54837e-26 0.086207 1 0 CADM3 57863 broad.mit.edu 37 1 159163801 159163801 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:159163801G>C uc001ftl.2 + 5 804 c.662G>C c.(661-663)AGA>ACA p.R221T CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.R255T NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 221 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) GGAGCTGACAGATCCACCTCT 0.502 NA 18 34 0 0 0.038395 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953812 161953812 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:161953812G>T uc001gbu.2 - 8 2330 c.1906C>A c.(1906-1908)CTG>ATG p.L636M OLFML2B_uc001gbt.2_Missense_Mutation_p.L119M|OLFML2B_uc010pkq.1_Missense_Mutation_p.L637M NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 636 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TCATCGTCCAGGGCCGGGTAG 0.632 NA 24 64 6.32553e-13 7.85994e-13 0.099896 1 0 ASTN1 460 broad.mit.edu 37 1 177001659 177001659 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:177001659G>T uc001glc.2 - 3 1010 c.798C>A c.(796-798)AGC>AGA p.S266R ASTN1_uc001glb.1_Missense_Mutation_p.S266R|ASTN1_uc001gld.1_Missense_Mutation_p.S266R|ASTN1_uc009wwx.1_Missense_Mutation_p.S266R|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 266 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GCGTGACCTGGCTGGCAAAGT 0.597 NA 69 108 5.26073e-25 7.25518e-25 0.048971 1 0 RASAL2 9462 broad.mit.edu 37 1 178310735 178310735 + Missense_Mutation SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:178310735A>G uc001glr.2 + 1 130 c.5A>G c.(4-6)CAG>CGG p.Q2R RASAL2_uc009wxb.2_Intron|RASAL2_uc001glq.2_Intron NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 2 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 CACACGATGCAGACCCCAGGT 0.428 NA 5 21 0 0 0.021553 0 0 RASAL2 9462 broad.mit.edu 37 1 178412214 178412214 + Silent SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:178412214G>T uc001glr.2 + 6 1013 c.888G>T c.(886-888)CTG>CTT p.L296L RASAL2_uc001glq.2_Silent_p.L444L NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 296 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TCACCATTCTGCCTATGGAGC 0.413 NA 10 29 4.68919e-08 5.4239e-08 0.069234 1 0 FAM5C 339479 broad.mit.edu 37 1 190067177 190067177 + Missense_Mutation SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:190067177C>G uc001gse.1 - 8 2504 c.2272G>C c.(2272-2274)GAT>CAT p.D758H FAM5C_uc010pot.1_Missense_Mutation_p.D656H NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 758 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GTGTCATAATCCATTGTGTTT 0.403 NA 29 52 0 0 0.034045 0 0 FAM5C 339479 broad.mit.edu 37 1 190067891 190067891 + Missense_Mutation SNP G G C rs147799875 TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:190067891G>C uc001gse.1 - 8 1790 c.1558C>G c.(1558-1560)CGC>GGC p.R520G FAM5C_uc010pot.1_Missense_Mutation_p.R418G NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 520 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CTATTGAGGCGCATGTCATTG 0.453 NA 59 94 0 0 0.048971 0 0 ASPM 259266 broad.mit.edu 37 1 197072028 197072028 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:197072028C>A uc001gtu.2 - 18 6610 c.6353G>T c.(6352-6354)AGG>ATG p.R2118M ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2118 IQ 17.|IQ 16. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AGTGGCTGCCCTGTGCATGTG 0.328 NA 14 38 1.3612e-06 1.52528e-06 0.024245 1 0 LRRN2 10446 broad.mit.edu 37 1 204588136 204588136 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:204588136G>A uc001hbe.1 - 3 1373 c.985C>T c.(985-987)CGC>TGC p.R329C MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R329C|LRRN2_uc009xbf.1_Missense_Mutation_p.R329C|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 329 LRR 11.|Extracellular (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGGAAGGCGCGGGGGTGGATG 0.607 NA 18 74 0 0 0.038395 0 0 ITPKB 3707 broad.mit.edu 37 1 226924682 226924682 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:226924682C>A uc010pvo.1 - 2 818 c.478G>T c.(478-480)GCC>TCC p.A160S ITPKB_uc001hqh.2_Missense_Mutation_p.A160S NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 160 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) GCTTGAATGGCGGAGCTCTGT 0.652 Colon(84;110 1851 5306 33547) NA 70 142 7.91278e-47 1.13492e-46 0.048971 1 0 URB2 9816 broad.mit.edu 37 1 229779384 229779384 + Missense_Mutation SNP A A T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:229779384A>T uc001hts.1 + 5 3875 c.3739A>T c.(3739-3741)ATG>TTG p.M1247L URB2_uc009xfd.1_Missense_Mutation_p.M1247L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1247 nucleolus central_nervous_system(2)|ovary(1) 3 GAGGCTGGTGATGCAGTGTAT 0.512 NA 47 101 0 0 0.048971 0 0 ACTN2 88 broad.mit.edu 37 1 236925779 236925779 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:236925779G>A uc001hyf.2 + 21 2749 c.2545G>A c.(2545-2547)GAG>AAG p.E849K ACTN2_uc001hyg.2_Missense_Mutation_p.E641K|ACTN2_uc009xgi.1_Missense_Mutation_p.E849K|ACTN2_uc010pxu.1_Missense_Mutation_p.E538K|ACTN2_uc001hyh.2_Missense_Mutation_p.E537K NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 849 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCTGGCGGAGGAGCTGCGTCG 0.537 NA 23 56 0 0 0.083992 0 0 RYR2 6262 broad.mit.edu 37 1 237880668 237880668 + Silent SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:237880668G>A uc001hyl.1 + 72 10614 c.10494G>A c.(10492-10494)CTG>CTA p.L3498L RYR2_uc010pxz.1_Silent_p.L453L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3498 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATTTAGCCTGGTAAGTCTCC 0.478 NA 6 19 0 0 0.02938 0 0 AKT3 10000 broad.mit.edu 37 1 243809209 243809209 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:243809209G>A uc001iab.1 - 4 496 c.415C>T c.(415-417)CAT>TAT p.H139Y AKT3_uc001hzz.1_Missense_Mutation_p.H139Y NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 139 signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) CTTTTATGATGGGTTGTAGAG 0.378 NA 12 26 0 0 0.09319 0 0 OR2L8 391190 broad.mit.edu 37 1 248112482 248112482 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:248112482G>T uc001idt.1 + 1 323 c.323G>T c.(322-324)GGT>GTT p.G108V OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GCATTAGGAGGTGCAGAAGCA 0.438 NA 19 212 8.00594e-06 8.85238e-06 0.043863 1 0 OR2L3 391192 broad.mit.edu 37 1 248224306 248224306 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:248224306G>T uc001idx.1 + 1 323 c.323G>T c.(322-324)GGT>GTT p.G108V OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GCATTAGGAGGTGCAGAAGCA 0.438 NA 40 60 7.90463e-13 9.77371e-13 0.048971 1 0 OR2T3 343173 broad.mit.edu 37 1 248636980 248636980 + Missense_Mutation SNP T T G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:248636980T>G uc001iel.1 + 1 329 c.329T>G c.(328-330)CTG>CGG p.L110R NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCTTCTACCTGACCCTGGCT 0.542 NA 56 112 0 0 0.048971 0 0 LARP4B 23185 broad.mit.edu 37 10 910104 910105 + Missense_Mutation DNP CA CA AT TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:910104_910105CA>AT uc001ifs.1 - 3 288_289 c.247_248TG>AT c.(247-249)TGG>ATG p.W83M NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 83 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 CACCTCCTCCCATGCAGCACTC 0.589 NA 27 14 0 0 0.004672 0 0 TRDMT1 1787 broad.mit.edu 37 10 17195622 17195622 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:17195622T>C uc001iop.2 - 10 1007 c.959A>G c.(958-960)TAC>TGC p.Y320C TRDMT1_uc001ioq.2_Missense_Mutation_p.Y296C|TRDMT1_uc001ior.2_Missense_Mutation_p.Y274C|TRDMT1_uc001ios.2_Missense_Mutation_p.Y249C|TRDMT1_uc009xjt.2_Missense_Mutation_p.Y239C|TRDMT1_uc010qcc.1_Missense_Mutation_p.Y249C|TRDMT1_uc010qcd.1_Missense_Mutation_p.Y197C NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform 320 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 AAGGGATTTGTAGATATTCTC 0.338 NA 7 10 0 0 0.02938 0 0 SLC39A12 221074 broad.mit.edu 37 10 18289671 18289671 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:18289671T>C uc001ipo.2 + 11 1949 c.1676T>C c.(1675-1677)ATA>ACA p.I559T SLC39A12_uc001ipn.2_Missense_Mutation_p.I522T|SLC39A12_uc001ipp.2_Missense_Mutation_p.I558T|SLC39A12_uc010qck.1_Missense_Mutation_p.I425T NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 559 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GGCCTAGCCATAGGAGCAGCC 0.438 NA 24 38 0 0 0.045705 0 0 ZNF438 220929 broad.mit.edu 37 10 31137569 31137569 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:31137569C>T uc010qdz.1 - 7 2200 c.1765G>A c.(1765-1767)GTG>ATG p.V589M ZNF438_uc001ivn.2_Missense_Mutation_p.V540M|ZNF438_uc010qdy.1_Missense_Mutation_p.V579M|ZNF438_uc001ivo.3_Missense_Mutation_p.V153M|ZNF438_uc009xlg.2_Missense_Mutation_p.V589M|ZNF438_uc001ivp.3_Missense_Mutation_p.V579M|ZNF438_uc010qea.1_Missense_Mutation_p.V589M|ZNF438_uc010qeb.1_Missense_Mutation_p.V589M|ZNF438_uc010qec.1_Missense_Mutation_p.V153M NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 589 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) ACCCTATGCACTTCTTTCAGA 0.488 NA 87 63 0 0 0.048971 0 0 PCDH15 65217 broad.mit.edu 37 10 55587214 55587214 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:55587214G>A uc001jju.1 - 32 4701 c.4306C>T c.(4306-4308)CCG>TCG p.P1436S PCDH15_uc010qhq.1_Missense_Mutation_p.P1441S|PCDH15_uc010qhr.1_Missense_Mutation_p.P1436S|PCDH15_uc010qhs.1_Missense_Mutation_p.P1448S|PCDH15_uc010qht.1_Missense_Mutation_p.P1443S|PCDH15_uc010qhu.1_Missense_Mutation_p.P1436S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1433S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1396S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1365S|PCDH15_uc010qhy.1_Missense_Mutation_p.P1441S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1436S|PCDH15_uc010qia.1_Missense_Mutation_p.P1414S|PCDH15_uc010qib.1_Missense_Mutation_p.P1411S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1436 Poly-Pro.|Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ggcggcggcgggggcgCTGCC 0.453 NA HNSCC(58;0.16) 7 15 0 0 0.080935 0 0 PCDH15 65217 broad.mit.edu 37 10 55721652 55721652 + Nonsense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:55721652C>A uc001jju.1 - 22 3264 c.2869G>T c.(2869-2871)GGA>TGA p.G957* PCDH15_uc010qhq.1_Nonsense_Mutation_p.G962*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.G957*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.G969*|PCDH15_uc010qht.1_Nonsense_Mutation_p.G964*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.G957*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.G957*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.G920*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.G886*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.G962*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.G957*|PCDH15_uc010qia.1_Nonsense_Mutation_p.G935*|PCDH15_uc010qib.1_Nonsense_Mutation_p.G935* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 957 Extracellular (Potential).|Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GCAGGTAATCCCtaaaataaa 0.313 NA HNSCC(58;0.16) 10 15 2.17888e-05 2.36752e-05 0.058154 1 0 PCDH15 65217 broad.mit.edu 37 10 55955474 55955474 + Missense_Mutation SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:55955474C>G uc001jju.1 - 11 1669 c.1274G>C c.(1273-1275)AGA>ACA p.R425T PCDH15_uc010qhq.1_Missense_Mutation_p.R430T|PCDH15_uc010qhr.1_Missense_Mutation_p.R425T|PCDH15_uc010qhs.1_Missense_Mutation_p.R430T|PCDH15_uc010qht.1_Missense_Mutation_p.R425T|PCDH15_uc010qhu.1_Missense_Mutation_p.R425T|PCDH15_uc001jjv.1_Missense_Mutation_p.R403T|PCDH15_uc010qhv.1_Missense_Mutation_p.R425T|PCDH15_uc010qhw.1_Missense_Mutation_p.R388T|PCDH15_uc010qhx.1_Missense_Mutation_p.R425T|PCDH15_uc010qhy.1_Missense_Mutation_p.R430T|PCDH15_uc010qhz.1_Missense_Mutation_p.R425T|PCDH15_uc010qia.1_Missense_Mutation_p.R403T|PCDH15_uc010qib.1_Missense_Mutation_p.R403T|PCDH15_uc001jjw.2_Missense_Mutation_p.R425T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 425 Cadherin 4.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGCTACTATTCTTAAAGGTGA 0.368 NA HNSCC(58;0.16) 11 61 0 0 0.09319 0 0 CDH23 64072 broad.mit.edu 37 10 73539147 73539147 + Nonsense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:73539147C>T uc001jrx.3 + 39 5688 c.5311C>T c.(5311-5313)CGA>TGA p.R1771* NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1771 Cadherin 17.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGCCCATGACCGAGACTCAGG 0.622 NA 3 32 0 0 0.004672 0 0 LRIT1 26103 broad.mit.edu 37 10 85991733 85991733 + Nonsense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:85991733G>A uc001kcz.1 - 4 1844 c.1822C>T c.(1822-1824)CAG>TAG p.Q608* NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 608 Cytoplasmic (Potential). integral to endoplasmic reticulum membrane 0 CCAAAGGCCTGAAAGTCCACA 0.572 NA 9 40 0 0 0.047766 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111642213 111642213 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:111642213C>A uc001kyp.1 - 10 1029 c.889G>T c.(889-891)GCT>TCT p.A297S XPNPEP1_uc009xxt.1_Missense_Mutation_p.A340S|XPNPEP1_uc001kyq.1_Missense_Mutation_p.A226S|XPNPEP1_uc010qrb.1_Missense_Mutation_p.A340S|XPNPEP1_uc010qra.1_Missense_Mutation_p.A64S NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, 297 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity ovary(3)|pancreas(1) 4 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) TCGCTCACAGCATAGCTGGCC 0.577 NA 29 155 9.78306e-22 1.31313e-21 0.041601 1 0 GPAM 57678 broad.mit.edu 37 10 113920368 113920368 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:113920368T>C uc009xxy.1 - 16 1951 c.1753A>G c.(1753-1755)ATC>GTC p.I585V GPAM_uc001kzp.2_Missense_Mutation_p.I585V|GPAM_uc001kzq.1_Missense_Mutation_p.I585V NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 585 Mitochondrial intermembrane (Potential).|Helical; (Potential). phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) ATACCTATGATGGCCTCCATG 0.393 Ovarian(161;1017 2606 18293 52943) NA 19 45 0 0 0.049695 0 0 KCNK18 338567 broad.mit.edu 37 10 118969655 118969656 + Missense_Mutation DNP CC CC GT TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr10:118969655_118969656CC>GT uc010qsr.1 + 3 1000_1001 c.1000_1001CC>GT c.(1000-1002)CCT>GTT p.P334V NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 334 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) TTTAGAACACCCTAACTTCTTC 0.421 NA 42 102 0 0 0.004672 0 0 LDHC 3948 broad.mit.edu 37 11 18434300 18434300 + Silent SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:18434300A>G uc001mon.3 + 2 148 c.36A>G c.(34-36)CTA>CTG p.L12L LDHC_uc001mom.3_Silent_p.L12L|LDHC_uc009yhp.2_Silent_p.L12L|LDHC_uc001moo.3_5'UTR|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_5'UTR NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 12 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) TTGAGAAGCTAATTGAGGATG 0.393 NA 31 20 0 0 0.041601 0 0 NELL1 4745 broad.mit.edu 37 11 20968951 20968951 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:20968951C>A uc001mqe.2 + 11 1294 c.1141C>A c.(1141-1143)CCT>ACT p.P381T NELL1_uc001mqf.2_Missense_Mutation_p.P381T|NELL1_uc009yid.2_Missense_Mutation_p.P409T|NELL1_uc010rdo.1_Missense_Mutation_p.P324T|NELL1_uc010rdp.1_Missense_Mutation_p.P141T NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 381 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TCACATTCTTCCTGAGAATCA 0.473 NA 40 18 1.41851e-31 1.97804e-31 0.080422 1 0 Unknown 0 broad.mit.edu 37 11 30953319 30953319 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:30953319G>T uc009yjk.1 - 10 1309 c.1240C>A c.(1240-1242)CAG>AAG p.Q414K uc009yjl.1_3'UTR RecName: Full=Doublecortin domain-containing protein 5; NA TGTTCTTACTGCGTTTTCCGT 0.363 NA 4 1 0.00909568 0.00931843 0.009096 1 0 SCYL1 57410 broad.mit.edu 37 11 65305955 65305955 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:65305955G>C uc001oea.1 + 18 2422 c.2345G>C c.(2344-2346)CGG>CCG p.R782P SCYL1_uc009yqk.2_3'UTR|SCYL1_uc001oeb.1_Missense_Mutation_p.R765P|SCYL1_uc001oec.1_Missense_Mutation_p.G770R|SCYL1_uc001oed.1_Missense_Mutation_p.R639P|SCYL1_uc001oee.1_Missense_Mutation_p.G408R NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 782 Potential. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 CGCGAGGAGCGGCGGCGGGAG 0.701 NA 4 3 0 0 0.014758 0 0 PC 5091 broad.mit.edu 37 11 66618624 66618624 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:66618624T>C uc001ojn.1 - 15 2159 c.2110A>G c.(2110-2112)ATC>GTC p.I704V PC_uc001ojo.1_Missense_Mutation_p.I704V|PC_uc001ojp.1_Missense_Mutation_p.I704V|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 704 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GTGTATGAGATGGCAGCCTCC 0.612 NA 58 17 0 0 0.048971 0 0 FAT3 120114 broad.mit.edu 37 11 92526040 92526040 + Silent SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:92526040G>A uc001pdj.3 + 8 4736 c.4719G>A c.(4717-4719)GCG>GCA p.A1573A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1573 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGTATGAAGCGTCTGTGTTTG 0.438 NA TCGA Ovarian(4;0.039) 16 105 0 0 0.024245 0 0 PGR 5241 broad.mit.edu 37 11 100998942 100998942 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:100998942G>T uc001pgh.2 - 1 1603 c.860C>A c.(859-861)GCG>GAG p.A287E PGR_uc001pgi.2_Missense_Mutation_p.A287E|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 287 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CGCCATCGGCGCGTCCTGCTC 0.697 Pancreas(124;2271 2354 21954 22882) NA 48 12 3.48956e-15 4.4014e-15 0.048971 1 0 VWF 7450 broad.mit.edu 37 12 6059022 6059022 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:6059022G>A uc001qnn.1 - 51 8433 c.8183C>T c.(8182-8184)ACT>ATT p.T2728I VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2728 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CAGCCTGGCAGTGATGTCGTT 0.537 NA 12 105 0 0 0.09319 0 0 ITPR2 3709 broad.mit.edu 37 12 26596529 26596529 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:26596529C>T uc001rhg.2 - 46 6814 c.6397G>A c.(6397-6399)GAT>AAT p.D2133N ITPR2_uc009zjg.1_Missense_Mutation_p.D284N NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2133 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TCTCCTTCATCTGGATCCGAT 0.403 NA 12 19 0 0 0.020292 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967041 41967041 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:41967041G>T uc010skn.1 + 10 1931 c.1863G>T c.(1861-1863)GAG>GAT p.E621D PDZRN4_uc001rmq.3_Missense_Mutation_p.E562D|PDZRN4_uc009zjz.2_Missense_Mutation_p.E560D|PDZRN4_uc001rmr.2_Missense_Mutation_p.E447D NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 820 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CTGATCAAGAGAAGGCAGTCA 0.488 NA 90 128 9.72016e-57 1.41847e-56 0.048971 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43825245 43825245 + Missense_Mutation SNP T T G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:43825245T>G uc010skx.1 - 22 3151 c.3151A>C c.(3151-3153)AAT>CAT p.N1051H ADAMTS20_uc001rno.1_Missense_Mutation_p.N205H|ADAMTS20_uc001rnp.1_Missense_Mutation_p.N205H NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1051 TSP type-1 5. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGATCTACATTCAGCTGACAC 0.413 NA 17 54 0 0 0.043863 0 0 FAM186B 84070 broad.mit.edu 37 12 49998266 49998266 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:49998266C>T uc001ruo.2 - 2 325 c.152G>A c.(151-153)CGC>CAC p.R51H FAM186B_uc010smk.1_5'UTR NM_032130 NP_115506 Q8IYM0 F186B_HUMAN hypothetical protein LOC84070 51 protein complex ovary(1) 1 TTCCTGGAAGCGGTTGATGAC 0.408 NA 9 66 0 0 0.058154 0 0 SLC4A8 9498 broad.mit.edu 37 12 51868922 51868922 + Missense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:51868922T>A uc001rys.1 + 16 2282 c.2104T>A c.(2104-2106)TTT>ATT p.F702I SLC4A8_uc001rym.2_Missense_Mutation_p.F649I|SLC4A8_uc001ryn.2_Missense_Mutation_p.F649I|SLC4A8_uc001ryo.2_Missense_Mutation_p.F649I|SLC4A8_uc010snj.1_Missense_Mutation_p.F729I|SLC4A8_uc001ryr.2_Missense_Mutation_p.F702I|SLC4A8_uc010snk.1_Missense_Mutation_p.F649I NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 702 Helical; (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) CTGTATTCTCTTTTTCACCAC 0.483 NA 14 81 0 0 0.105934 0 0 KRT79 338785 broad.mit.edu 37 12 53223860 53223860 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:53223860T>C uc001sbb.2 - 4 835 c.802A>G c.(802-804)AAA>GAA p.K268E KRT79_uc001sba.2_Missense_Mutation_p.K39E NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 268 Rod.|Coil 1B. keratin filament structural molecule activity ovary(2)|skin(2) 4 GTGCCCACTTTGCCATGCAGA 0.552 NA 18 88 0 0 0.043863 0 0 IFNG 3458 broad.mit.edu 37 12 68549134 68549134 + Nonstop_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:68549134T>A uc001stw.1 - 4 626 c.500A>T c.(499-501)TAA>TTA p.*167L NM_000619 NP_000610 P01579 IFNG_HUMAN interferon, gamma precursor 167 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) GGACAACCATTACTGGGATGC 0.343 NA 4 14 0 0 0.009096 0 0 KCNC2 3747 broad.mit.edu 37 12 75444442 75444442 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:75444442C>A uc001sxg.1 - 3 1887 c.1343G>T c.(1342-1344)TGG>TTG p.W448L KCNC2_uc009zry.2_Missense_Mutation_p.W448L|KCNC2_uc001sxe.2_Missense_Mutation_p.W448L|KCNC2_uc001sxf.2_Missense_Mutation_p.W448L|KCNC2_uc010stw.1_Missense_Mutation_p.W448L NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 448 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 CATGCCTGACCATGTTTGGGG 0.507 NA 14 39 1.5842e-08 1.8409e-08 0.105934 1 0 C12orf63 374467 broad.mit.edu 37 12 97158873 97158873 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:97158873G>T uc001tet.1 + 27 3511 c.3433G>T c.(3433-3435)GCA>TCA p.A1145S NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 1145 skin(6)|ovary(1) 7 AGCTGTGCTGGCAATTAACTT 0.299 NA 23 29 1.10923e-09 1.30101e-09 0.076483 1 0 CKAP4 10970 broad.mit.edu 37 12 106632981 106632981 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr12:106632981T>C uc001tlk.2 - 2 1714 c.1630A>G c.(1630-1632)AGC>GGC p.S544G NM_006825 NP_006816 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 544 Potential. ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction 0 TCCACTTGGCTGACTGAGGCT 0.532 NA 54 76 0 0 0.048971 0 0 MTUS2 23281 broad.mit.edu 37 13 29600241 29600241 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr13:29600241T>C uc001usl.3 + 1 1494 c.1436T>C c.(1435-1437)GTT>GCT p.V479A NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 469 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AGTGTTATGGTTTTGGTGTTC 0.507 NA 26 18 0 0 0.0918 0 0 FNDC3A 22862 broad.mit.edu 37 13 49752748 49752748 + Nonsense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr13:49752748C>A uc001vcm.2 + 14 1880 c.1575C>A c.(1573-1575)TAC>TAA p.Y525* FNDC3A_uc001vcn.2_Nonsense_Mutation_p.Y525*|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Nonsense_Mutation_p.Y451*|FNDC3A_uc001vcq.2_Nonsense_Mutation_p.Y469* NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 525 Fibronectin type-III 3. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ATCTTGCTTACACAGTGAAAA 0.343 NA 17 15 1.02788e-11 1.22857e-11 0.0333 1 0 DACH1 1602 broad.mit.edu 37 13 72255950 72255950 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr13:72255950G>T uc010thn.1 - 3 1364 c.941C>A c.(940-942)TCT>TAT p.S314Y DACH1_uc010tho.1_Missense_Mutation_p.S314Y|DACH1_uc010thp.1_Missense_Mutation_p.S314Y NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 314 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TATCCCAGGAGACATGAGACC 0.438 NA 8 14 0.00307968 0.00319421 0.038147 1 0 FSCB 84075 broad.mit.edu 37 14 44973886 44973886 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr14:44973886G>A uc001wvn.2 - 1 2614 c.2305C>T c.(2305-2307)CCA>TCA p.P769S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 769 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TTTACTGCTGGAATTCCTGCC 0.408 NA 16 71 0 0 0.038395 0 0 CNIH 10175 broad.mit.edu 37 14 54896978 54896978 + Splice_Site SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr14:54896978C>G uc001xat.1 - 4 510 c.407_splice c.e4+1 p.G136_splice CNIH_uc001xav.1_Intron NM_005776 NP_005767 O95406 CNIH_HUMAN cornichon-like immune response|intracellular signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane 0 GBM - Glioblastoma multiforme(112;0.00341) TTTCAACTTACCCATATAGGT 0.328 NA 6 24 0 0 0.021553 0 0 DACT1 51339 broad.mit.edu 37 14 59113521 59113521 + Nonsense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr14:59113521C>A uc001xdw.2 + 4 2344 c.2180C>A c.(2179-2181)TCG>TAG p.S727* DACT1_uc010trv.1_Nonsense_Mutation_p.S446*|DACT1_uc001xdx.2_Nonsense_Mutation_p.S690*|DACT1_uc010trw.1_Nonsense_Mutation_p.S446* NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 727 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 TCCGAGTACTCGGCCGAGTGC 0.662 NA 51 46 3.31993e-32 4.65532e-32 0.048971 1 0 WDR89 112840 broad.mit.edu 37 14 64065716 64065716 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr14:64065716G>C uc001xgh.2 - 3 1191 c.945C>G c.(943-945)AGC>AGG p.S315R WDR89_uc001xgi.2_Missense_Mutation_p.S315R NM_001008726 NP_001008726 Q96FK6 WDR89_HUMAN WD repeat domain 89 315 0 OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101) CTCCCTGAAGGCTAGTCACAT 0.438 NA 31 33 0 0 0.041601 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267478 71267478 + Silent SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr14:71267478C>A uc001xmm.2 - 2 726 c.726G>T c.(724-726)CTG>CTT p.L242L MAP3K9_uc001xml.2_Silent_p.L242L NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 242 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCCAATTCACCAGGATGTCTG 0.493 GBM(114;411 1587 13539 28235 50070) NA 26 76 4.26978e-12 5.15247e-12 0.083992 1 0 PCNX 22990 broad.mit.edu 37 14 71444881 71444881 + Silent SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr14:71444881T>C uc001xmo.2 + 6 2273 c.1827T>C c.(1825-1827)AGT>AGC p.S609S PCNX_uc001xmn.3_Silent_p.S609S|PCNX_uc010are.1_Silent_p.S609S NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 609 Ser-rich. integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTGACTTGAGTAGAGCATCAA 0.473 NA 38 36 0 0 0.069456 0 0 RGS6 9628 broad.mit.edu 37 14 72945023 72945023 + Silent SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr14:72945023C>G uc001xna.3 + 12 1363 c.840C>G c.(838-840)TCC>TCG p.S280S RGS6_uc010ttn.1_Silent_p.S280S|RGS6_uc001xmx.3_Silent_p.S280S|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.S280S|RGS6_uc010ttp.1_Silent_p.S211S|RGS6_uc001xmz.1_Silent_p.S141S NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 280 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TGAAAATGTCCAAAGTGGCTG 0.318 Ovarian(143;1926 2468 21071 48641) NA 3 12 0 0 0.004672 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407783 105407783 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr14:105407783C>T uc010axc.1 - 7 14125 c.14005G>A c.(14005-14007)GAA>AAA p.E4669K AHNAK2_uc001ypx.2_Missense_Mutation_p.E4569K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4669 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACAACAGATTCCACAATGGGA 0.413 NA 12 32 0 0 0.080935 0 0 MKRN3 7681 broad.mit.edu 37 15 23810997 23810997 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:23810997C>T uc001ywh.3 + 1 544 c.68C>T c.(67-69)GCA>GTA p.A23V MKRN3_uc001ywi.2_Missense_Mutation_p.A23V|MKRN3_uc010ayi.1_Missense_Mutation_p.A23V NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 23 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GCTGAGGCAGCAAGGGAGGGT 0.667 NA 38 34 0 0 0.092188 0 0 LTK 4058 broad.mit.edu 37 15 41799788 41799788 + Silent SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:41799788G>A uc001zoa.3 - 10 1495 c.1317C>T c.(1315-1317)CTC>CTT p.L439L LTK_uc001zob.3_Silent_p.L378L|LTK_uc010ucx.1_Silent_p.L378L|LTK_uc010bcg.2_Silent_p.L121L NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 439 Helical; (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) ACACCATAAGGAGGCTCAGTG 0.557 NA TSP Lung(18;0.14) 23 12 0 0 0.069288 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64495340 64495340 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:64495340T>C uc002anf.2 - 10 1528 c.1048A>G c.(1048-1050)ACT>GCT p.T350A CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.T350A|CSNK1G1_uc002anh.1_Missense_Mutation_p.T350A|CSNK1G1_uc002anj.2_Missense_Mutation_p.T332A NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 350 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 CTTTCTCGAGTTATTGCAGAT 0.453 NA 41 15 0 0 0.09836 0 0 CILP 8483 broad.mit.edu 37 15 65499310 65499310 + Silent SNP G G A rs146845325 TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:65499310G>A uc002aon.2 - 4 415 c.234C>T c.(232-234)CGC>CGT p.R78R NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 78 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CATAGTAGAAGCGAATGGCGT 0.602 NA 5 38 0 0 0.014758 0 0 RPL4 6124 broad.mit.edu 37 15 66795413 66795413 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:66795413G>C uc002apv.2 - 3 321 c.265C>G c.(265-267)CAG>GAG p.Q89E RPL4_uc010bhr.2_5'UTR|RPL4_uc002apw.2_Intron|RPL4_uc002apx.2_5'UTR|RPL4_uc010ujq.1_Missense_Mutation_p.Q89E|SNORD18C_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|SNORD16_uc010bht.2_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.2_5'Flank|ZWILCH_uc002aqa.2_5'Flank|ZWILCH_uc010bhv.2_5'Flank NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 89 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 AAAGCACCCTGGCCAGAGCGG 0.493 NA 14 34 0 0 0.105934 0 0 FAM154B 283726 broad.mit.edu 37 15 82574915 82574915 + Nonsense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:82574915G>T uc002bgv.2 + 3 778 c.709G>T c.(709-711)GAG>TAG p.E237* FAM154B_uc010unr.1_Nonsense_Mutation_p.E222*|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 237 skin(2) 2 GAAAGTACCAGAGTATGTGCC 0.473 NA 7 55 2.0095e-06 2.24171e-06 0.02938 1 0 AEN 64782 broad.mit.edu 37 15 89172497 89172497 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:89172497C>T uc002bmt.2 + 3 732 c.581C>T c.(580-582)GCG>GTG p.A194V AEN_uc010bnm.1_Missense_Mutation_p.A194V NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 194 Exonuclease. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 GTGGGGCACGCGCTGCACAAC 0.612 NA 8 264 0 0 0.069234 0 0 C15orf42 90381 broad.mit.edu 37 15 90168849 90168849 + Missense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:90168849T>A uc002boe.2 + 20 5308 c.5308T>A c.(5308-5310)TTG>ATG p.L1770M C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1770 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) ACAGTTTGGGTTGAGTTCCAG 0.537 NA 35 76 0 0 0.069456 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459353 92459353 + Missense_Mutation SNP A A C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr15:92459353A>C uc002bqx.2 + 2 512 c.311A>C c.(310-312)CAC>CCC p.H104P SLCO3A1_uc002bqy.2_Missense_Mutation_p.H104P|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.H46P NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 104 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GCACGCGGGCACCGGCCGCGC 0.667 NA 7 21 0 0 0.034045 0 0 LUC7L 55692 broad.mit.edu 37 16 242974 242974 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:242974C>T uc002cgc.1 - 7 839 c.728G>A c.(727-729)CGC>CAC p.R243H LUC7L_uc002cga.1_Missense_Mutation_p.R243H|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.R243H|LUC7L_uc002cgb.1_Missense_Mutation_p.R157H NM_201412 NP_958815 Q9NQ29 LUC7L_HUMAN LUC7-like isoform b 243 Potential.|Arg/Ser-rich. metal ion binding central_nervous_system(1) 1 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CCTCCTCAAGCGATCCTGATT 0.507 NA 79 173 0 0 0.048971 0 0 AXIN1 8312 broad.mit.edu 37 16 343556 343556 + Silent SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:343556C>T uc002cgp.1 - 8 2295 c.2118G>A c.(2116-2118)CAG>CAA p.Q706Q AXIN1_uc002cgq.1_Silent_p.Q706Q NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 706 Interaction with RNF111.|Interaction with PPP2CA.|Interaction with HIPK2 (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CCTCCTCCAGCTGGGTTAGGG 0.682 NA 83 136 0 0 0.048971 0 0 BAIAP3 8938 broad.mit.edu 37 16 1392740 1392740 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:1392740G>T uc002clk.1 + 13 1191 c.1191G>T c.(1189-1191)CAG>CAT p.Q397H BAIAP3_uc002clj.2_Missense_Mutation_p.Q379H|BAIAP3_uc010uuz.1_Missense_Mutation_p.Q362H|BAIAP3_uc010uva.1_Missense_Mutation_p.Q334H|BAIAP3_uc010uvc.1_Missense_Mutation_p.Q326H NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 397 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) CCATGAGCCAGCGCGGGCGAT 0.667 NA 11 40 3.07112e-06 3.41084e-06 0.080935 1 0 C16orf5 29965 broad.mit.edu 37 16 4563767 4563767 + Silent SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:4563767C>A uc002cwu.2 - 3 466 c.171G>T c.(169-171)CCG>CCT p.P57P C16orf5_uc002cwv.2_Silent_p.P57P|C16orf5_uc002cww.2_Silent_p.P57P|C16orf5_uc010uxl.1_Silent_p.P57P|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_RNA NM_013399 NP_037531 Q9H305 LITFL_HUMAN cell death inducing protein 57 Pro-rich. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway nucleus ovary(1) 1 Ovarian(90;0.17) TTGGGTGACCCGGCGGCTCAT 0.652 NA 64 85 2.94687e-45 4.20264e-45 0.048971 1 0 GRIN2A 2903 broad.mit.edu 37 16 10032335 10032336 + Missense_Mutation DNP TG TG CT TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:10032335_10032336TG>CT uc002czo.3 - 3 1035_1036 c.487_488CA>AG c.(487-489)CAG>AGG p.Q163R GRIN2A_uc010uym.1_Missense_Mutation_p.Q163R|GRIN2A_uc010uyn.1_Missense_Mutation_p.Q6R|GRIN2A_uc002czr.3_Missense_Mutation_p.Q163R NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 163 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCATAATCCTGCATGATCTTC 0.5 NA 46 88 0 0 0.004672 0 0 TXNDC11 51061 broad.mit.edu 37 16 11827847 11827847 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:11827847T>C uc010buu.1 - 3 622 c.560A>G c.(559-561)TAT>TGT p.Y187C TXNDC11_uc002dbg.1_Missense_Mutation_p.Y187C NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 187 Thioredoxin 1. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 CCTCCGATGATACAGATATAT 0.333 NA 13 17 0 0 0.09319 0 0 KIAA0430 9665 broad.mit.edu 37 16 15729639 15729639 + Silent SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:15729639C>T uc002ddr.2 - 3 898 c.705G>A c.(703-705)GGG>GGA p.G235G KIAA0430_uc002ddq.2_Silent_p.G234G|KIAA0430_uc010uzv.1_Silent_p.G234G|KIAA0430_uc010uzw.1_Silent_p.G234G|KIAA0430_uc010uzx.1_Silent_p.G234G NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 234 peroxisome nucleotide binding|RNA binding 0 CTTCCAAATGCCCTGGAGCCC 0.522 NA 28 45 0 0 0.030593 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18597207 18597207 + Missense_Mutation SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:18597207C>G uc002dfg.2 + 7 771 c.571C>G c.(571-573)CTT>GTT p.L191V ABCC6P1_uc010vam.1_Missense_Mutation_p.L134V NR_003569 SubName: Full=cDNA FLJ51267, highly similar to Multidrug resistance-associated protein 6; 0 CTCAGAAGAACTTGTTTCCCG 0.557 NA 14 141 0 0 0.043863 0 0 GTF3C1 2975 broad.mit.edu 37 16 27510036 27510036 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:27510036G>C uc002dov.1 - 13 2120 c.2080C>G c.(2080-2082)CCG>GCG p.P694A GTF3C1_uc002dou.2_Missense_Mutation_p.P694A NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 694 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TCCATGGACGGGTGCACCACC 0.577 NA 55 120 0 0 0.048971 0 0 HEATR3 55027 broad.mit.edu 37 16 50134194 50134194 + Missense_Mutation SNP T T G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:50134194T>G uc002efw.2 + 13 1815 c.1653T>G c.(1651-1653)AGT>AGG p.S551R HEATR3_uc002efx.2_Missense_Mutation_p.S465R NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 551 binding ovary(1)|skin(1) 2 TTCATAGTAGTAATGTCGGGG 0.378 NA 20 40 0 0 0.043863 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53682886 53682886 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:53682886T>C uc002ehp.2 - 16 2358 c.2294A>G c.(2293-2295)CAT>CGT p.H765R RPGRIP1L_uc002eho.3_Missense_Mutation_p.H765R|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.H765R|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.H765R|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.H765R NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 765 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) CGACTGCATATGCTCTGGCCC 0.353 NA 35 51 0 0 0.086207 0 0 MMP2 4313 broad.mit.edu 37 16 55530913 55530913 + Silent SNP C C T rs41521545 byFrequency TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:55530913C>T uc002ehz.3 + 10 1859 c.1548C>T c.(1546-1548)CTC>CTT p.L516L MMP2_uc010vhd.1_Silent_p.L440L|MMP2_uc010ccc.2_Silent_p.L466L|MMP2_uc002eia.3_Silent_p.L13L NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 516 Required for inhibitor TIMP2 binding.|Hemopexin-like 1. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GGCCTGAGCTCCCGGAAAAGA 0.612 NA 11 130 0 0 0.080935 0 0 HSF4 3299 broad.mit.edu 37 16 67200263 67200263 + Missense_Mutation SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:67200263C>G uc002erl.1 + 7 1491 c.526C>G c.(526-528)CAG>GAG p.Q176E HSF4_uc002erm.1_Missense_Mutation_p.Q176E|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 isoform b 176 Hydrophobic repeat HR-A/B. response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GACACTTCGGCAGAGCCACGG 0.637 NA 7 17 0 0 0.02938 0 0 CDT1 81620 broad.mit.edu 37 16 88871952 88871952 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr16:88871952G>T uc002flu.2 + 4 647 c.593G>T c.(592-594)CGC>CTC p.R198L NM_030928 NP_112190 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 198 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) GAGATGTTCCGCAGCATGGAC 0.662 Melanoma(159;511 3380 30971) NA 65 86 2.79145e-41 3.93626e-41 0.048971 1 0 OR1D4 8385 broad.mit.edu 37 17 2966252 2966252 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:2966252G>A uc010vra.1 - 1 704 c.704C>T c.(703-705)TCC>TTC p.S235F NM_003552 NP_003543 olfactory receptor, family 1, subfamily D, 0 ACGTACATAGGATGTGGTCAT 0.507 NA 12 13 0 0 0.020292 0 0 TP53 7157 broad.mit.edu 37 17 7577097 7577097 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:7577097C>A uc002gim.2 - 8 1035 c.841G>T c.(841-843)GAC>TAC p.D281Y TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149Y|TP53_uc010cng.1_Missense_Mutation_p.D149Y|TP53_uc002gii.1_Missense_Mutation_p.D149Y|TP53_uc010cnh.1_Missense_Mutation_p.D281Y|TP53_uc010cni.1_Missense_Mutation_p.D281Y|TP53_uc002gij.2_Missense_Mutation_p.D281Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 281 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (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.D281E(25)|p.D281H(19)|p.D281N(18)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(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) GTGCGCCGGTCTCTCCCAGGA 0.547 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 31 15 7.68411e-24 1.04821e-23 0.037714 1 0 MYH8 4626 broad.mit.edu 37 17 10297637 10297637 + Nonsense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:10297637C>A uc002gmm.2 - 35 5190 c.5095G>T c.(5095-5097)GAG>TAG p.E1699* uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1699 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CTGCTTCTCTCTGTCTGTTCC 0.587 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 55 34 8.43275e-48 1.22348e-47 0.048971 1 0 Unknown 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:21731144T>G uc002gyy.3 + 2 571 c.446T>G c.(445-447)CTG>CGG p.L149R SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA GTCCTGCGTCTGAGAGGTGGT 0.542 NA 5 98 0 0 0.014758 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29849412 29849412 + Missense_Mutation SNP C C T rs140513474 TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:29849412C>T uc002hgn.1 + 7 1157 c.928C>T c.(928-930)CGG>TGG p.R310W RAB11FIP4_uc002hgo.2_Missense_Mutation_p.R208W NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 310 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GGCCTTTGGACGGTAAGGCCC 0.607 NA 5 142 0 0 0.014758 0 0 MARCH10 162333 broad.mit.edu 37 17 60814179 60814179 + Missense_Mutation SNP A A C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:60814179A>C uc010ddr.2 - 6 1288 c.1050T>G c.(1048-1050)AGT>AGG p.S350R MARCH10_uc002jag.3_Missense_Mutation_p.S350R|MARCH10_uc010dds.2_Missense_Mutation_p.S388R|MARCH10_uc002jah.2_Missense_Mutation_p.S349R|uc002jaj.1_RNA|uc002jak.2_RNA NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 350 ligase activity|zinc ion binding 0 ATGAGCCATGACTGGGCTCAC 0.483 NA 53 155 0 0 0.048971 0 0 HELZ 9931 broad.mit.edu 37 17 65103287 65103287 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:65103287C>T uc010wqk.1 - 31 5429 c.5242G>A c.(5242-5244)GAG>AAG p.E1748K HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.E1747K NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) ACATTTACCTCTTCTAAGCTA 0.328 NA 42 46 0 0 0.092188 0 0 TNRC6C 57690 broad.mit.edu 37 17 76060902 76060902 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:76060902C>T uc002jud.2 + 5 3095 c.2495C>T c.(2494-2496)GCA>GTA p.A832V TNRC6C_uc002juf.2_Missense_Mutation_p.A829V|TNRC6C_uc002jue.2_Missense_Mutation_p.A829V NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 832 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AATGGCACAGCAGCATGGGGG 0.577 NA 20 21 0 0 0.055883 0 0 CBX2 84733 broad.mit.edu 37 17 77755587 77755587 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:77755587G>A uc002jxc.2 + 4 317 c.275G>A c.(274-276)CGC>CAC p.R92H CBX2_uc002jxb.1_Missense_Mutation_p.R92H NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 92 Ser-rich. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGCAGCCGGCGCTCCAAGCTC 0.657 NA 26 71 0 0 0.108266 0 0 SPIRE1 56907 broad.mit.edu 37 18 12506572 12506572 + Silent SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr18:12506572C>A uc002kre.2 - 6 923 c.876G>T c.(874-876)CGG>CGT p.R292R SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.R172R|SPIRE1_uc010wzx.1_Silent_p.R95R|SPIRE1_uc010wzy.1_Silent_p.R292R NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 292 cytoskeleton|perinuclear region of cytoplasm actin binding 0 GGTTGTACTGCCGCTCTTGGA 0.443 NA 22 65 2.32416e-17 2.97634e-17 0.069288 1 0 KLHL14 57565 broad.mit.edu 37 18 30349754 30349754 + Silent SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr18:30349754G>T uc002kxm.1 - 2 1189 c.801C>A c.(799-801)GCC>GCA p.A267A NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 267 BACK. cytosol|endoplasmic reticulum membrane ovary(1) 1 CCGGGATGAGGGCGAAGCGGA 0.652 NA 20 39 4.35082e-09 5.07933e-09 0.055883 1 0 C18orf34 374864 broad.mit.edu 37 18 30804833 30804833 + Missense_Mutation SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr18:30804833A>G uc002kxn.2 - 16 1866 c.1724T>C c.(1723-1725)ATA>ACA p.I575T C18orf34_uc010dme.1_Missense_Mutation_p.I89T|C18orf34_uc010xbr.1_Missense_Mutation_p.I575T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I575T|C18orf34_uc002kxp.2_Missense_Mutation_p.I575T NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 575 ovary(1) 1 CATGGCACATATTGCTCTATT 0.378 NA 9 15 0 0 0.047766 0 0 DCC 1630 broad.mit.edu 37 18 50278670 50278670 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr18:50278670G>C uc002lfe.1 + 2 925 c.338G>C c.(337-339)GGA>GCA p.G113A DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 113 Extracellular (Potential).|Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCAGATGAGGGACTTTACCAA 0.413 NA 20 14 0 0 0.055883 0 0 STK11 6794 broad.mit.edu 37 19 1220629 1220629 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:1220629C>T uc002lrl.1 + 5 1762 c.647C>T c.(646-648)TCC>TTC p.S216F NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 216 Protein kinase. S -> F (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.S216F(2)|p.?(2)|p.S216P(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCAGGGCTCCCCGGCTTTC 0.711 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 8 3 0 0 0.038147 0 0 STK11 6794 broad.mit.edu 37 19 1220706 1220706 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:1220706G>T uc002lrl.1 + 5 1839 c.724G>T c.(724-726)GGG>TGG p.G242W NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 242 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.G242V(1)|p.G242R(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGTCGGCTGGGGTCACCCT 0.706 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 19 10 5.35267e-07 6.05189e-07 0.043863 1 0 SMARCA4 6597 broad.mit.edu 37 19 11135100 11135100 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:11135100G>C uc002mqf.3 + 21 3351 c.3067G>C c.(3067-3069)GAG>CAG p.E1023Q SMARCA4_uc010dxp.2_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1023Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1023Q|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxt.1_Missense_Mutation_p.E243Q|SMARCA4_uc002mqh.3_Missense_Mutation_p.E146Q|SMARCA4_uc002mqi.1_Missense_Mutation_p.E226Q NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1023 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGATGGCTCCGAGAAGGACAA 0.632 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 22 21 0 0 0.069288 0 0 MAN2B1 4125 broad.mit.edu 37 19 12761005 12761005 + Missense_Mutation SNP A A C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:12761005A>C uc002mub.2 - 17 2154 c.2078T>G c.(2077-2079)TTC>TGC p.F693C MAN2B1_uc010dyv.1_Missense_Mutation_p.F692C NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 693 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 CCAAGCTGAGAAGTTCTGGTG 0.612 NA 101 44 0 0 0.048971 0 0 UNC13A 23025 broad.mit.edu 37 19 17746954 17746954 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:17746954C>T uc002nhd.2 - 26 3358 c.3358G>A c.(3358-3360)GAA>AAA p.E1120K NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1032 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GGGAGAACTTCCCCCTTCTTG 0.498 NA 8 3 0 0 0.038147 0 0 DLL3 10683 broad.mit.edu 37 19 39991296 39991296 + Missense_Mutation SNP A A T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:39991296A>T uc002olx.2 + 3 451 c.393A>T c.(391-393)TTA>TTT p.L131F DLL3_uc010egq.2_Missense_Mutation_p.L131F|DLL3_uc002olw.2_Missense_Mutation_p.L131F NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN delta-like 3 protein isoform 1 precursor 131 Extracellular (Potential). Notch signaling pathway|skeletal system development integral to membrane Notch binding central_nervous_system(2)|breast(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GAGAGGAGTTAGGAGACCAGA 0.517 NA 27 14 0 0 0.108266 0 0 PHLDB3 653583 broad.mit.edu 37 19 44006275 44006275 + Missense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:44006275T>A uc002own.3 - 3 633 c.374A>T c.(373-375)CAG>CTG p.Q125L PHLDB3_uc002owo.2_Missense_Mutation_p.Q125L NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 125 Potential. 0 Prostate(69;0.0153) CTCCTTCCTCTGGCGCTGTAG 0.652 NA 3 4 0 0 0.004672 0 0 PEG3 5178 broad.mit.edu 37 19 57327504 57327504 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:57327504T>C uc002qnu.2 - 7 2657 c.2306A>G c.(2305-2307)TAT>TGT p.Y769C ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y740C|PEG3_uc002qnv.2_Missense_Mutation_p.Y769C|PEG3_uc002qnw.2_Missense_Mutation_p.Y645C|PEG3_uc002qnx.2_Missense_Mutation_p.Y643C|PEG3_uc010etr.2_Missense_Mutation_p.Y769C NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 769 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTTTGCCTCATAGACATTTTC 0.418 NA 105 43 0 0 0.048971 0 0 ZNF530 348327 broad.mit.edu 37 19 58111475 58111475 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr19:58111475G>T uc002qpk.2 + 1 223 c.3G>T c.(1-3)ATG>ATT p.M1I ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGAGTCCGATGGCGGCGGCAC 0.716 NA 3 3 0.004672 0.00482581 0.004672 1 0 SLC4A5 57835 broad.mit.edu 37 2 74477490 74477490 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:74477490C>A uc002sko.1 - 12 1635 c.1633G>T c.(1633-1635)GAT>TAT p.D545Y SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.D545Y|SLC4A5_uc010ffc.1_Missense_Mutation_p.D545Y|SLC4A5_uc002skp.1_Missense_Mutation_p.D481Y|SLC4A5_uc002sks.1_Missense_Mutation_p.D545Y NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 545 Extracellular (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 TCGGTGGCATCCCCCAGAAGC 0.527 NA OREG0014716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 50 6.00712e-18 7.7721e-18 0.050027 1 0 MRPL19 9801 broad.mit.edu 37 2 75881899 75881899 + Silent SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:75881899C>T uc002snl.2 + 5 538 c.513C>T c.(511-513)GTC>GTT p.V171V MRPL19_uc002snm.1_Silent_p.V171V NM_014763 NP_055578 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 precursor 171 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome 0 ATCCTCGGGTCCAGGAGATTC 0.378 NA 7 41 0 0 0.02938 0 0 LRP1B 53353 broad.mit.edu 37 2 141032086 141032086 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:141032086C>A uc002tvj.1 - 85 14021 c.13049G>T c.(13048-13050)CGC>CTC p.R4350L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4350 Extracellular (Potential).|EGF-like 13. 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) TCCTTCATAGCGCGTTGGACA 0.423 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 14 23 4.14922e-12 5.03118e-12 0.028581 1 0 LRP1B 53353 broad.mit.edu 37 2 141122289 141122289 + Nonsense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:141122289C>T uc002tvj.1 - 72 12044 c.11072G>A c.(11071-11073)TGG>TAG p.W3691* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3691 Extracellular (Potential).|LDL-receptor class A 30. 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) ATCACACACCCAGAAATGTAG 0.383 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 3 23 0 0 0.004672 0 0 LRP1B 53353 broad.mit.edu 37 2 141773418 141773419 + Missense_Mutation DNP GG GG TT TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:141773418_141773419GG>TT uc002tvj.1 - 13 3008_3009 c.2036_2037CC>AA c.(2035-2037)GCC>GAA p.A679E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 679 Extracellular (Potential).|LDL-receptor class B 7. 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) CATCCATCCAGGCCTTCTCAAT 0.411 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 23 49 0 0 0.004672 0 0 LRP1B 53353 broad.mit.edu 37 2 141819657 141819658 + Missense_Mutation DNP TG TG AT TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:141819657_141819658TG>AT uc002tvj.1 - 8 2170_2171 c.1198_1199CA>AT c.(1198-1200)CAA>ATA p.Q400I LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 400 Extracellular (Potential).|LDL-receptor class B 4. 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) ATTTTTTCCTTGATAGTCCACT 0.391 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 16 39 0 0 0.004672 0 0 SCN3A 6328 broad.mit.edu 37 2 166010962 166010962 + Silent SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:166010962C>T uc002ucx.2 - 11 1872 c.1380G>A c.(1378-1380)CAG>CAA p.Q460Q SCN3A_uc002ucy.2_Silent_p.Q460Q|SCN3A_uc002ucz.2_Silent_p.Q460Q|SCN3A_uc002uda.1_Silent_p.Q329Q|SCN3A_uc002udb.1_Silent_p.Q329Q NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 460 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CACTCAGTACCTGAGCTTCTT 0.368 NA 6 29 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179600341 179600341 + Silent SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:179600341T>A uc010zfg.1 - 47 11324 c.11100A>T c.(11098-11100)ACA>ACT p.T3700T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T361T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4627 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAATCTCAAGTGTTGCTATTT 0.433 NA 12 20 0 0 0.080935 0 0 CERKL 375298 broad.mit.edu 37 2 182521630 182521630 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:182521630G>T uc002unx.2 - 1 205 c.104C>A c.(103-105)TCC>TAC p.S35Y CERKL_uc002uny.2_Missense_Mutation_p.S35Y|CERKL_uc010zfm.1_Missense_Mutation_p.S35Y|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.S35Y|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Missense_Mutation_p.S35Y|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Intron|CERKL_uc002uoe.2_Missense_Mutation_p.S35Y NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 35 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) CTGCTGCGGGGACGTTAACAG 0.711 NA 10 30 8.34094e-07 9.38823e-07 0.049695 1 0 CALCRL 10203 broad.mit.edu 37 2 188216867 188216867 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr2:188216867T>C uc002upv.3 - 13 1650 c.1102A>G c.(1102-1104)ATC>GTC p.I368V CALCRL_uc010frt.2_Missense_Mutation_p.I368V NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 368 Helical; Name=7; (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) ATGTGCATGATGTAGTCATAT 0.413 NA 5 14 0 0 0.014758 0 0 RSPO4 343637 broad.mit.edu 37 20 947922 947922 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr20:947922C>T uc002wej.2 - 3 401 c.304G>A c.(304-306)GAC>AAC p.D102N RSPO4_uc002wek.2_Missense_Mutation_p.D102N NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN R-spondin family, member 4 isoform 1 precursor 102 FU. Wnt receptor signaling pathway extracellular region heparin binding 0 ATGCAGAAGTCCTGGCTGAAG 0.602 NA 33 94 0 0 0.080422 0 0 C20orf94 128710 broad.mit.edu 37 20 10603806 10603806 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr20:10603806G>T uc010zre.1 + 8 1186 c.1006G>T c.(1006-1008)GCT>TCT p.A336S NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN hypothetical protein LOC128710 336 protein binding 0 GGTTTTGCCAGCTTCAGAGTT 0.443 NA 37 61 6.90743e-12 8.29552e-12 0.064281 1 0 SEC23B 10483 broad.mit.edu 37 20 18523047 18523047 + Splice_Site SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr20:18523047G>A uc002wqz.1 + 13 1954 c.1511_splice c.e13+1 p.N504_splice SEC23B_uc002wra.1_Splice_Site_p.N504_splice|SEC23B_uc002wrb.1_Splice_Site_p.N504_splice|SEC23B_uc010zsb.1_Splice_Site_p.N486_splice|SEC23B_uc002wrc.1_Splice_Site_p.N504_splice NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 TCGCCCGAAAGTAAGCAGCCC 0.488 NA 100 168 0 0 0.048971 0 0 HM13 81502 broad.mit.edu 37 20 30136919 30136919 + Splice_Site SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr20:30136919T>C uc002wwe.2 + 5 654 c.540_splice c.e5+2 p.K180_splice HM13_uc002wwc.2_Splice_Site_p.K180_splice|HM13_uc002wwd.2_Splice_Site_p.K180_splice|HM13_uc002wwf.2_Splice_Site_p.K56_splice|HM13_uc010gdu.2_Splice_Site_p.K56_splice NM_030789 NP_110416 Q8TCT9 HM13_HUMAN minor histocompatibility antigen 13 isoform 1 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1) 1 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) CTGAGGAAGGTGAGTAGTCAG 0.572 NA 15 415 0 0 0.024245 0 0 PTPRT 11122 broad.mit.edu 37 20 40980917 40980917 + Nonsense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr20:40980917G>T uc002xkg.2 - 10 1753 c.1569C>A c.(1567-1569)TAC>TAA p.Y523* PTPRT_uc010ggj.2_Nonsense_Mutation_p.Y523* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 523 Extracellular (Potential).|Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CGACAGCCTTGTAGTTGATCT 0.532 NA 12 48 0.00244969 0.00255134 0.020292 1 0 ZNF831 128611 broad.mit.edu 37 20 57829576 57829576 + Silent SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr20:57829576C>T uc002yan.2 + 5 4812 c.4812C>T c.(4810-4812)CCC>CCT p.P1604P NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1604 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TGACTGTCCCCTGCCCCTCTT 0.493 NA 24 138 0 0 0.076483 0 0 PRPF6 24148 broad.mit.edu 37 20 62630480 62630480 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr20:62630480G>C uc002yho.2 + 7 1022 c.854G>C c.(853-855)GGA>GCA p.G285A PRPF6_uc002yhp.2_Missense_Mutation_p.G285A NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 285 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CCGACACACGGAGGAGACATC 0.502 NA 10 57 0 0 0.058154 0 0 LIPI 149998 broad.mit.edu 37 21 15561369 15561369 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr21:15561369T>C uc002yjm.2 - 2 491 c.481A>G c.(481-483)ATT>GTT p.I161V LIPI_uc010gkw.1_Missense_Mutation_p.I94V NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 140 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AGATTTTTAATGTGCACACTC 0.328 NA 4 18 0 0 0.014758 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28212371 28212371 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr21:28212371G>T uc002ymf.2 - 6 2130 c.1675C>A c.(1675-1677)CAT>AAT p.H559N NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 559 Disintegrin.|TSP type-1 1. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) CAGCTTCCATGAAAAGGCGTC 0.463 NA 14 22 2.61681e-11 3.11289e-11 0.020292 1 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768627 31768627 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr21:31768627C>A uc002yoa.2 + 1 236 c.223C>A c.(223-225)CCC>ACC p.P75T NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 75 3.|5 X 10 AA approximate repeats. intermediate filament ovary(1) 1 GGAGTCCAGCCCCTGCCAGAC 0.612 NA 29 41 1.88708e-17 2.42902e-17 0.037714 1 0 DGCR14 8220 broad.mit.edu 37 22 19124931 19124931 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr22:19124931G>A uc002zou.2 - 8 977 c.940C>T c.(940-942)CCG>TCG p.P314S DGCR14_uc002zot.2_Missense_Mutation_p.P235S|DGCR14_uc002zov.2_RNA NM_022719 NP_073210 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region protein 14 314 nervous system development catalytic step 2 spliceosome ovary(1) 1 Colorectal(54;0.0993) GTCATCATCGGGGACTCGTTC 0.592 NA 93 139 0 0 0.048971 0 0 CYTH4 27128 broad.mit.edu 37 22 37708205 37708205 + Nonsense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr22:37708205G>T uc003arf.2 + 12 1218 c.1102G>T c.(1102-1104)GAG>TAG p.E368* CYTH4_uc011amw.1_Nonsense_Mutation_p.E311*|CYTH4_uc010gxe.2_RNA NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 368 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CCAGTGGATCGAGTCCATCCG 0.607 NA 23 58 2.4375e-19 3.2032e-19 0.034045 1 0 ELFN2 114794 broad.mit.edu 37 22 37770139 37770139 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr22:37770139T>C uc003asq.3 - 3 2222 c.1436A>G c.(1435-1437)GAG>GGG p.E479G NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 479 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GGGCAGCTTCTCCCCGATCAT 0.667 NA 13 183 0 0 0.105934 0 0 RANGAP1 5905 broad.mit.edu 37 22 41657502 41657502 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr22:41657502C>T uc003azs.2 - 5 2033 c.563G>A c.(562-564)GGC>GAC p.G188D RANGAP1_uc003azt.2_Missense_Mutation_p.G188D|RANGAP1_uc003azu.2_Missense_Mutation_p.G188D|RANGAP1_uc011aoz.1_Intron NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 188 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 ACGGTTTCTGCCAGCCACAAA 0.547 NA 4 85 0 0 0.009096 0 0 WNT7B 7477 broad.mit.edu 37 22 46345933 46345933 + Silent SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr22:46345933C>A uc003bgo.2 - 2 539 c.165G>T c.(163-165)CGG>CGT p.R55R WNT7B_uc010haa.2_Silent_p.R59R NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 55 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) TGGCATCGGGCCGACTCTGGC 0.627 NA 15 45 1.37285e-15 1.74033e-15 0.028581 1 0 ARPP21 10777 broad.mit.edu 37 3 35750491 35750491 + Missense_Mutation SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:35750491A>G uc003cgb.2 + 11 1090 c.826A>G c.(826-828)AGA>GGA p.R276G ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cgf.2_Intron NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 276 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TAGAGATGACAGACGAAGTAA 0.378 NA 3 10 0 0 0.004672 0 0 CELSR3 1951 broad.mit.edu 37 3 48670747 48670747 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:48670747G>A uc003cuf.1 - 38 10441 c.10441C>T c.(10441-10443)CGT>TGT p.R3481C SLC26A6_uc003cug.2_Missense_Mutation_p.R66C|SLC26A6_uc003cuh.2_Missense_Mutation_p.R87C|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Missense_Mutation_p.R87C|SLC26A6_uc003cui.2_Missense_Mutation_p.R87C|SLC26A6_uc003cuj.2_Missense_Mutation_p.R87C|SLC26A6_uc011bbp.1_Missense_Mutation_p.R87C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGCCAGTCACGCACAGGATAC 0.607 NA 11 21 0 0 0.105934 0 0 SFMBT1 51460 broad.mit.edu 37 3 52940182 52940182 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:52940182G>A uc003dgf.2 - 21 2976 c.2407C>T c.(2407-2409)CGG>TGG p.R803W SFMBT1_uc010hmr.2_Intron|SFMBT1_uc003dgg.2_Missense_Mutation_p.R803W|SFMBT1_uc003dgh.2_Missense_Mutation_p.R803W NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 803 SAM. regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTGATGAACCGCACAACGTCT 0.418 NA 3 36 0 0 0.009096 0 0 MAGI1 9223 broad.mit.edu 37 3 65456009 65456009 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:65456009G>T uc003dmn.2 - 5 1434 c.908C>A c.(907-909)CCT>CAT p.P303H MAGI1_uc003dmm.2_Missense_Mutation_p.P303H|MAGI1_uc003dmo.2_Missense_Mutation_p.P303H|MAGI1_uc003dmp.2_Missense_Mutation_p.P303H|MAGI1_uc010hny.2_Missense_Mutation_p.P188H|MAGI1_uc003dmr.2_Missense_Mutation_p.P304H NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 303 WW 1. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CCAGTTTTCAGGTAGAGGACC 0.413 NA 18 9 1.64113e-05 1.79098e-05 0.055883 1 0 MYLK 4638 broad.mit.edu 37 3 123375980 123375980 + Silent SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:123375980T>C uc003ego.2 - 24 4563 c.4281A>G c.(4279-4281)AAA>AAG p.K1427K MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Silent_p.K227K|MYLK_uc011bjw.1_Silent_p.K1427K|MYLK_uc003egp.2_Silent_p.K1358K|MYLK_uc003egq.2_Silent_p.K1427K|MYLK_uc003egr.2_Silent_p.K1358K|MYLK_uc003egs.2_Silent_p.K1251K NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1427 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TACCTTCAGGTTTCTCTCCTA 0.478 NA 39 44 0 0 0.09836 0 0 ALG1L2 644974 broad.mit.edu 37 3 129811966 129811966 + Silent SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:129811966C>T uc011bld.1 + 4 462 c.276C>T c.(274-276)GAC>GAT p.D92D ALG1L2_uc010hth.2_RNA NM_001136152 NP_001129624 C9J202 AG1L2_HUMAN asparagine-linked glycosylation 1-like 2 92 biosynthetic process transferase activity, transferring glycosyl groups 0 TGACTCTTGACGGACAGAACC 0.383 NA 14 70 0 0 0.0333 0 0 COL6A6 131873 broad.mit.edu 37 3 130292827 130292827 + Missense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:130292827T>A uc010htl.2 + 7 3036 c.3005T>A c.(3004-3006)GTT>GAT p.V1002D NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1002 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GTAGATCTTGTTTTCCTTATG 0.358 NA 18 18 0 0 0.0333 0 0 TRPC1 7220 broad.mit.edu 37 3 142503717 142503717 + Nonsense_Mutation SNP A A T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:142503717A>T uc003evc.2 + 7 1268 c.1132A>T c.(1132-1134)AGA>TGA p.R378* TRPC1_uc003evb.2_Nonsense_Mutation_p.R344* NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 378 Cytoplasmic (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 TCAGTTTGGCAGAATCATTCA 0.368 NA 12 43 0 0 0.020292 0 0 ATP13A5 344905 broad.mit.edu 37 3 193019010 193019010 + Missense_Mutation SNP A A T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr3:193019010A>T uc011bsq.1 - 24 2765 c.2765T>A c.(2764-2766)CTG>CAG p.L922Q NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 922 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CCAATAGAGCAGTAATGCACT 0.353 NA 43 45 0 0 0.042209 0 0 RNF212 285498 broad.mit.edu 37 4 1066945 1066945 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr4:1066945C>A uc003gcj.2 - 10 941 c.611G>T c.(610-612)TGG>TTG p.W204L RNF212_uc003gch.2_Intron|RNF212_uc003gci.2_Intron|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_3'UTR NM_001131034 NP_001124506 Q495C1 RN212_HUMAN ring finger protein 212 isoform a 204 zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) CAAGGTCAACCATGGGATGAA 0.552 NA OREG0016028 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 78 9.8876e-21 1.31312e-20 0.074837 1 0 CC2D2A 57545 broad.mit.edu 37 4 15569349 15569349 + Missense_Mutation SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr4:15569349A>G uc010idv.2 + 27 3583 c.3338A>G c.(3337-3339)CAT>CGT p.H1113R CC2D2A_uc003gnx.2_Missense_Mutation_p.H1064R|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 1113 C2. cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 ACAGTTTGCCATACGACTACG 0.358 NA 6 15 0 0 0.02938 0 0 PROL1 58503 broad.mit.edu 37 4 71275347 71275347 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr4:71275347G>T uc003hfi.2 + 3 476 c.302G>T c.(301-303)GGT>GTT p.G101V NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 101 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) CTCTTTCCGGGTTATCCAAAC 0.403 NA 76 115 1.31311e-47 1.89419e-47 0.048971 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73149140 73149140 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr4:73149140C>T uc003hgk.1 - 22 3368 c.3331G>A c.(3331-3333)GGT>AGT p.G1111S NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 1111 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCATTTGGACCTCCCACTGAA 0.463 NSCLC(168;1941 2048 2918 13048 43078) NA 15 98 0 0 0.028581 0 0 BBS7 55212 broad.mit.edu 37 4 122782798 122782798 + Missense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr4:122782798T>A uc003ied.2 - 4 376 c.202A>T c.(202-204)AGG>TGG p.R68W BBS7_uc003iee.1_Missense_Mutation_p.R68W|BBS7_uc010inq.1_Missense_Mutation_p.R24W NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 68 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 AGTTCCAGCCTTGCAATCTTC 0.398 NA Bardet-Biedl_syndrome 9 7 0 0 0.047766 0 0 SNX25 83891 broad.mit.edu 37 4 186244912 186244912 + Missense_Mutation SNP A A T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr4:186244912A>T uc003ixh.2 + 9 1404 c.1215A>T c.(1213-1215)GAA>GAT p.E405D SNX25_uc010ish.2_Missense_Mutation_p.E176D|SNX25_uc003ixi.2_Translation_Start_Site NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 405 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TAAAAGAGGAAGAAAAACATG 0.338 NA 5 12 0 0 0.021553 0 0 IRX1 79192 broad.mit.edu 37 5 3599727 3599727 + Missense_Mutation SNP A A T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr5:3599727A>T uc003jde.2 + 2 717 c.665A>T c.(664-666)GAG>GTG p.E222V NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 222 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GACGACGAGGAGATCGACCTG 0.632 NA 7 60 0 0 0.02938 0 0 PRDM9 56979 broad.mit.edu 37 5 23524575 23524575 + Nonsense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr5:23524575C>A uc003jgo.2 + 10 1265 c.1083C>A c.(1081-1083)TAC>TAA p.Y361* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 361 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGGATGAATACGGCCAGGAAC 0.512 NA HNSCC(3;0.000094) 42 65 5.34276e-22 7.24882e-22 0.048971 1 0 CDH9 1007 broad.mit.edu 37 5 26915812 26915812 + Missense_Mutation SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr5:26915812T>C uc003jgs.1 - 3 618 c.449A>G c.(448-450)CAT>CGT p.H150R CDH9_uc010iug.2_Missense_Mutation_p.H150R NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 150 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ATTGATATCATGTATTTTAAT 0.388 Melanoma(8;187 585 15745 40864 52829) NA 27 39 0 0 0.099896 0 0 ALDH7A1 501 broad.mit.edu 37 5 125912853 125912853 + Missense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr5:125912853T>A uc003ktx.2 - 6 760 c.568A>T c.(568-570)ATC>TTC p.I190F ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.I217F|ALDH7A1_uc003ktz.2_Missense_Mutation_p.I217F NM_001182 NP_001173 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 190 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity kidney(2)|ovary(1) 3 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) GCCGTGATGATTCCAACCAGG 0.483 NA 24 16 0 0 0.083992 0 0 HARS 3035 broad.mit.edu 37 5 140070879 140070879 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr5:140070879C>A uc003lgv.2 - 1 93 c.11G>T c.(10-12)CGT>CTT p.R4L HARS_uc011czm.1_Missense_Mutation_p.R4L|HARS_uc003lgw.2_Missense_Mutation_p.R4L|HARS_uc011czn.1_Missense_Mutation_p.R4L|HARS_uc010jfu.2_Missense_Mutation_p.R4L|HARS_uc011czo.1_Missense_Mutation_p.R4L|HARS_uc011czp.1_Missense_Mutation_p.R4L|HARS_uc011czq.1_Missense_Mutation_p.R4L|HARS2_uc010jfv.1_5'Flank|HARS2_uc003lgx.2_5'Flank|HARS2_uc011czr.1_5'Flank|HARS2_uc011czs.1_5'Flank|HARS2_uc011czt.1_5'Flank NM_002109 NP_002100 P12081 SYHC_HUMAN histidyl-tRNA synthetase 4 WHEP-TRS. histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) CAGCGCCGCACGCTCTGCCAT 0.652 NA 16 7 4.14922e-12 5.03118e-12 0.028581 1 0 SPRY4 81848 broad.mit.edu 37 5 141693948 141693948 + Silent SNP G G A rs145360326 byFrequency TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr5:141693948G>A uc003lml.2 - 2 985 c.726C>T c.(724-726)TCC>TCT p.S242S SPRY4_uc010jgi.1_Silent_p.S265S NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 242 Cys-rich.|SPR. multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCACCACGGAGAGAGCAC 0.682 NA Testicular_Cancer_Familial_Clustering_of 8 24 0 0 0.047766 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26204930 26204930 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr6:26204930C>A uc003ngy.2 + 1 58 c.58C>A c.(58-60)CGT>AGT p.R20S NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 20 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) TAAGCGTCACCGTAAGGTCCT 0.547 NA 26 110 7.88262e-20 1.04134e-19 0.083992 1 0 DAAM2 23500 broad.mit.edu 37 6 39869182 39869182 + Silent SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr6:39869182G>C uc003oow.2 + 24 3072 c.2916G>C c.(2914-2916)CGG>CGC p.R972R DAAM2_uc003oox.2_Silent_p.R971R NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 972 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CAGAGGCCCGGCAGGATCTAG 0.607 NA 38 77 0 0 0.074837 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55364093 55364093 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr6:55364093C>A uc003pcn.2 - 7 796 c.637G>T c.(637-639)GTG>TTG p.V213L HMGCLL1_uc003pco.2_Missense_Mutation_p.V183L|HMGCLL1_uc010jzx.2_Missense_Mutation_p.V84L|HMGCLL1_uc011dxc.1_Missense_Mutation_p.V151L|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 213 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GCACAAGACACATACCTAAAT 0.323 Ovarian(35;840 893 7837 15538 42887) NA 5 20 0.000602214 0.000629816 0.014758 1 0 EPHA7 2045 broad.mit.edu 37 6 93956601 93956601 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr6:93956601C>T uc003poe.2 - 15 2876 c.2635G>A c.(2635-2637)GAA>AAA p.E879K EPHA7_uc003pof.2_Missense_Mutation_p.E874K|EPHA7_uc011eac.1_Missense_Mutation_p.E875K NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 879 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TTTGGCCTTTCAGCACGCTCC 0.418 NA 27 15 0 0 0.099896 0 0 PTPRK 5796 broad.mit.edu 37 6 128404945 128404945 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr6:128404945G>C uc003qbk.2 - 9 1857 c.1490C>G c.(1489-1491)TCT>TGT p.S497C PTPRK_uc003qbj.2_Missense_Mutation_p.S497C|PTPRK_uc010kfc.2_Missense_Mutation_p.S497C|PTPRK_uc011ebu.1_Missense_Mutation_p.S497C|PTPRK_uc003qbl.1_Missense_Mutation_p.S367C|PTPRK_uc011ebv.1_Missense_Mutation_p.S497C NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 497 Extracellular (Potential).|Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCCTTGAAGAGATTTTACTGG 0.338 NA 4 18 0 0 0.009096 0 0 THBS2 7058 broad.mit.edu 37 6 169621556 169621556 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr6:169621556G>C uc003qwt.2 - 21 3588 c.3340C>G c.(3340-3342)CTG>GTG p.L1114V NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 1114 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CTGTGAGTCAGGTGCCACCTA 0.547 Esophageal Squamous(91;219 1934 18562 44706) NA 47 43 0 0 0.048971 0 0 THSD7A 221981 broad.mit.edu 37 7 11501681 11501681 + Missense_Mutation SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr7:11501681C>T uc003ssf.3 - 10 2710 c.2458G>A c.(2458-2460)GAA>AAA p.E820K NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 820 TSP type-1 8.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCCTTCTCTTCATAGAGGGGA 0.542 NA HNSCC(18;0.044) 61 103 0 0 0.048971 0 0 THSD7A 221981 broad.mit.edu 37 7 11633039 11633039 + Silent SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr7:11633039G>T uc003ssf.3 - 3 1365 c.1113C>A c.(1111-1113)CCC>CCA p.P371P NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 371 TSP type-1 3.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTTTTGAGCAGGGGCTCCACT 0.517 NA HNSCC(18;0.044) 23 55 0.000229342 0.000244956 0.062417 1 0 ZNF479 90827 broad.mit.edu 37 7 57188680 57188680 + Missense_Mutation SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr7:57188680A>G uc010kzo.2 - 5 713 c.442T>C c.(442-444)TGT>CGT p.C148R NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) GTTGACAAACATTGGTTAACT 0.308 NA 24 25 0 0 0.099896 0 0 AUTS2 26053 broad.mit.edu 37 7 70255663 70255663 + Missense_Mutation SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr7:70255663G>A uc003tvw.3 + 19 4204 c.3461G>A c.(3460-3462)CGC>CAC p.R1154H AUTS2_uc003tvx.3_Missense_Mutation_p.R1130H|AUTS2_uc011keg.1_Missense_Mutation_p.R606H NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1154 His-rich. ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GAGCGGGAGCGCTTGCACATG 0.602 NA 7 59 0 0 0.038147 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853343 70853343 + Missense_Mutation SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr7:70853343A>G uc003tvy.2 + 3 545 c.545A>G c.(544-546)CAC>CGC p.H182R WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 182 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ACGCCCACACACCTGCTGAAG 0.557 NA 36 50 0 0 0.080422 0 0 CHRM2 1129 broad.mit.edu 37 7 136699878 136699878 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr7:136699878G>C uc003vtf.1 + 4 889 c.266G>C c.(265-267)TGG>TCG p.W89S CHRM2_uc003vtg.1_Missense_Mutation_p.W89S|CHRM2_uc003vtj.1_Missense_Mutation_p.W89S|CHRM2_uc003vtk.1_Missense_Mutation_p.W89S|CHRM2_uc003vtl.1_Missense_Mutation_p.W89S|CHRM2_uc003vtm.1_Missense_Mutation_p.W89S|CHRM2_uc003vti.1_Missense_Mutation_p.W89S|CHRM2_uc003vto.1_Missense_Mutation_p.W89S|CHRM2_uc003vtn.1_Missense_Mutation_p.W89S|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 89 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATTGGTTACTGGCCTTTGGGA 0.463 NA 38 72 0 0 0.074837 0 0 CA8 767 broad.mit.edu 37 8 61193624 61193624 + Missense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:61193624T>A uc003xtz.1 - 1 331 c.83A>T c.(82-84)GAG>GTG p.E28V CA8_uc003xua.1_Missense_Mutation_p.E28V|CA8_uc003xub.2_Missense_Mutation_p.E28V NM_004056 NP_004047 P35219 CAH8_HUMAN carbonic anhydrase VIII 28 Glu-rich (acidic). one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) GTAGCCCCACTCCACACcctc 0.587 NA 32 29 0 0 0.045705 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68139538 68139538 + Silent SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:68139538T>A uc003xxo.1 - 27 4140 c.3750A>T c.(3748-3750)CCA>CCT p.P1250P ARFGEF1_uc003xxl.1_Silent_p.P704P|ARFGEF1_uc003xxn.1_Silent_p.P233P NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1250 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CTCGAATTGTTGGAGACCTAA 0.368 NA 15 34 0 0 0.020292 0 0 SULF1 23213 broad.mit.edu 37 8 70539460 70539460 + Silent SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:70539460C>A uc010lza.1 + 16 2583 c.1866C>A c.(1864-1866)CCC>CCA p.P622P SULF1_uc003xyd.2_Silent_p.P622P|SULF1_uc003xye.2_Silent_p.P622P|SULF1_uc003xyf.2_Silent_p.P622P|SULF1_uc003xyg.2_Silent_p.P622P|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'Flank NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 622 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTATTCTTCCCAATGACTCTA 0.378 NA 14 45 4.3838e-07 4.97889e-07 0.105934 1 0 SLCO5A1 81796 broad.mit.edu 37 8 70594557 70594557 + Missense_Mutation SNP A A C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:70594557A>C uc003xyl.2 - 7 2351 c.1644T>G c.(1642-1644)CAT>CAG p.H548Q SLCO5A1_uc010lzb.2_Missense_Mutation_p.H493Q|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.H548Q NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 548 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TCAGATTCCTATGGGGCATGG 0.388 NA 24 90 0 0 0.037714 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763566 77763566 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:77763566G>T uc003yav.2 + 10 4661 c.4274G>T c.(4273-4275)TGG>TTG p.W1425L ZFHX4_uc003yau.1_Missense_Mutation_p.W1470L|ZFHX4_uc003yaw.1_Missense_Mutation_p.W1425L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1425 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGAGAACTGTGGGCAGAGAGC 0.502 NA HNSCC(33;0.089) 12 35 2.27111e-07 2.59113e-07 0.09319 1 0 CNGB3 54714 broad.mit.edu 37 8 87591351 87591351 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:87591351G>C uc003ydx.2 - 16 1957 c.1911C>G c.(1909-1911)ATC>ATG p.I637M CNGB3_uc010maj.2_Missense_Mutation_p.I494M NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 637 Cytoplasmic (Potential).|cGMP (By similarity). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TCTTCATGAGGATCCTTTCAG 0.408 NA 107 99 0 0 0.048971 0 0 GEM 2669 broad.mit.edu 37 8 95265333 95265333 + Silent SNP T T C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:95265333T>C uc003ygj.2 - 3 588 c.339A>G c.(337-339)ACA>ACG p.T113T GEM_uc003ygi.2_Silent_p.T113T NM_005261 NP_005252 P55040 GEM_HUMAN GTP-binding mitogen-induced T-cell protein 113 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding lung(1) 1 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTCGTTCATATGTATCTTCTA 0.403 GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766) NA 26 68 0 0 0.030593 0 0 DPYS 1807 broad.mit.edu 37 8 105459557 105459557 + Missense_Mutation SNP C C A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:105459557C>A uc003yly.3 - 3 727 c.598G>T c.(598-600)GCA>TCA p.A200S NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 200 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CGTACCTCTGCAATTAAGTCT 0.453 NA 10 30 0.000442599 0.000468744 0.058154 1 0 ZFPM2 23414 broad.mit.edu 37 8 106813655 106813655 + Missense_Mutation SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:106813655C>G uc003ymd.2 + 8 1368 c.1345C>G c.(1345-1347)CTC>GTC p.L449V ZFPM2_uc011lhs.1_Missense_Mutation_p.L180V|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 449 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCAGCTCTTTCTCACGAACCA 0.463 NA 7 61 0 0 0.02938 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477349 110477349 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:110477349G>T uc003yne.2 + 49 8392 c.8288G>T c.(8287-8289)TGT>TTT p.C2763F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2763 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCTGGAGTTTGTAATGACAGA 0.468 NA HNSCC(38;0.096) 36 90 4.4194e-11 5.23241e-11 0.054565 1 0 CSMD3 114788 broad.mit.edu 37 8 113246674 113246674 + Silent SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:113246674A>G uc003ynu.2 - 68 10819 c.10660T>C c.(10660-10662)TTA>CTA p.L3554L CSMD3_uc003yns.2_Silent_p.L2756L|CSMD3_uc003ynt.2_Silent_p.L3514L|CSMD3_uc011lhx.1_Silent_p.L3385L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3554 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TATATGCGTAACATTAGGCGA 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 92 0 0 0.069288 0 0 CSMD3 114788 broad.mit.edu 37 8 113254006 113254006 + Nonsense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:113254006T>A uc003ynu.2 - 66 10570 c.10411A>T c.(10411-10413)AAA>TAA p.K3471* CSMD3_uc003yns.2_Nonsense_Mutation_p.K2673*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.K3431*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.K3302* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3471 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACCAATATTTTAGAACCAGCT 0.274 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 30 0 0 0.104719 0 0 TAF2 6873 broad.mit.edu 37 8 120814149 120814149 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:120814149G>C uc003you.2 - 6 947 c.677C>G c.(676-678)ACT>AGT p.T226S NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 226 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CATATCATGAGTATACACTGT 0.378 NA 26 58 0 0 0.083992 0 0 DENND3 22898 broad.mit.edu 37 8 142170817 142170817 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr8:142170817G>T uc003yvy.2 + 9 1321 c.1043G>T c.(1042-1044)CGG>CTG p.R348L DENND3_uc010mep.2_Intron|DENND3_uc003yvz.1_Intron NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 348 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GCCCACCGGCGGTCCTGGCAG 0.617 NA 13 37 5.26018e-13 6.56868e-13 0.062417 1 0 IFNA2 3440 broad.mit.edu 37 9 21385084 21385084 + Missense_Mutation SNP A A T rs150636116 TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr9:21385084A>T uc003zpb.2 - 1 313 c.245T>A c.(244-246)ATG>AAG p.M82K NM_000605 NP_000596 P01563 IFNA2_HUMAN interferon, alpha 2 precursor 82 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1) 1 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CTGCTGGATCATCTCATGGAG 0.483 NA 22 64 0 0 0.055883 0 0 TAF1L 138474 broad.mit.edu 37 9 32631306 32631306 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr9:32631306G>T uc003zrg.1 - 1 4362 c.4272C>A c.(4270-4272)TTC>TTA p.F1424L uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1424 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTGGAGTGTGGAAAGGGTGTG 0.473 NA 81 50 3.9908e-21 5.32814e-21 0.048971 1 0 KIAA1539 80256 broad.mit.edu 37 9 35107649 35107650 + Missense_Mutation DNP CC CC AA TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr9:35107649_35107650CC>AA uc003zwl.2 - 3 947_948 c.622_623GG>TT c.(622-624)GGG>TTG p.G208L KIAA1539_uc003zwm.2_Missense_Mutation_p.G208L|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.G208L|KIAA1539_uc003zwp.1_Missense_Mutation_p.G208L|KIAA1539_uc010mkk.1_Intron NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 208 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GAGGCTACCCCCATTGCCCACC 0.658 NA 19 32 0 0 0.004672 0 0 IARS 3376 broad.mit.edu 37 9 94973152 94973152 + Silent SNP G G A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr9:94973152G>A uc004art.1 - 34 3983 c.3726C>T c.(3724-3726)CCC>CCT p.P1242P IARS_uc004ars.1_Silent_p.P1035P|IARS_uc004aru.3_Silent_p.P1242P|IARS_uc010mqr.2_Silent_p.P1132P|IARS_uc004arr.1_RNA NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 1242 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) AAGTCTTCACGGGGATGTCTT 0.348 NA 20 19 0 0 0.049695 0 0 PHF2 5253 broad.mit.edu 37 9 96416742 96416742 + Silent SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr9:96416742C>G uc004aub.2 + 7 984 c.837C>G c.(835-837)TCC>TCG p.S279S PHF2_uc011lug.1_Silent_p.S162S NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 279 JmjC. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CCAACATCTCCCTGTATGAGC 0.602 NA 27 18 0 0 0.0918 0 0 FKBP15 23307 broad.mit.edu 37 9 115965313 115965313 + Silent SNP A A G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr9:115965313A>G uc004bgs.2 - 5 445 c.327T>C c.(325-327)TAT>TAC p.Y109Y FKBP15_uc010muu.1_Silent_p.Y173Y|FKBP15_uc011lxd.1_Silent_p.Y41Y|FKBP15_uc010mut.1_5'UTR|FKBP15_uc004bgt.2_Silent_p.Y109Y NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 109 Important for function in growth cone organization (By similarity). endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 GAAGAATCCTATACTGTAGAC 0.328 NA 5 3 0 0 0.014758 0 0 CSF2RA 1438 broad.mit.edu 37 X 1424363 1424363 + Silent SNP C C T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chrX:1424363C>T uc010nct.2 + 13 1390 c.1068C>T c.(1066-1068)TTC>TTT p.F356F CSF2RA_uc011mhb.1_Silent_p.F356F|CSF2RA_uc004cpq.2_Missense_Mutation_p.S224F|CSF2RA_uc004cpn.2_Silent_p.F356F|CSF2RA_uc004cpo.2_Silent_p.F356F|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.F223F|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Silent_p.F390F|CSF2RA_uc004cpr.2_Missense_Mutation_p.S324F NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 356 Cytoplasmic (Potential).|Box 1 motif. extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGCGGCTGTTCCCGCCAGTTC 0.542 Esophageal Squamous(131;723 1707 25334 40494 41806) NA 8 64 0 0 0.080935 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839787 27839787 + Missense_Mutation SNP T T A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chrX:27839787T>A uc004dbw.2 + 3 591 c.364T>A c.(364-366)TTG>ATG p.L122M NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 122 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 GGTGCATTACTTGCTGTACAA 0.428 NA 26 3 0 0 0.083992 0 0 DGKK 139189 broad.mit.edu 37 X 50213554 50213554 + Missense_Mutation SNP C C G TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chrX:50213554C>G uc010njr.1 - 1 184 c.124G>C c.(124-126)GCT>CCT p.A42P NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 42 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) agcggcggagccggcggcgga 0.443 NA 18 1 0 0 0.083992 0 0 BMP15 9210 broad.mit.edu 37 X 50659489 50659489 + Missense_Mutation SNP G G T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chrX:50659489G>T uc011mnw.1 + 2 1061 c.1061G>T c.(1060-1062)CGG>CTG p.R354L NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 354 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) AGTGTCCCCCGGCCCTCCTGT 0.463 NA 32 11 9.65021e-13 1.18735e-12 0.045705 1 0 DIAPH2 1730 broad.mit.edu 37 X 96330222 96330222 + Missense_Mutation SNP G G C TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chrX:96330222G>C uc004efu.3 + 19 2605 c.2209G>C c.(2209-2211)GAG>CAG p.E737Q DIAPH2_uc004eft.3_Missense_Mutation_p.E737Q NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 737 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 CGTTATTCTGGAGGTTAATGA 0.313 NA 13 5 0 0 0.09319 0 0 GABRQ 55879 broad.mit.edu 37 X 151821395 151821395 + Missense_Mutation SNP A A T TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chrX:151821395A>T uc004ffp.1 + 9 1570 c.1550A>T c.(1549-1551)AAG>ATG p.K517M NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 517 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCCAGTGGGAAGCCCATGCTT 0.547 NA 65 67 0 0 0.048971 0 0 ATP8B2 57198 broad.mit.edu 37 1 154315767 154315767 + Frame_Shift_Del DEL G G - TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr1:154315767delG uc001fex.2 + 16 1731 c.1731delG c.(1729-1731)ATGfs p.M577fs NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 563 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCAAGCGGATGTCGGTCATAG 0.582 NA 17 88 --- --- --- --- NA NA NA NA NA OR10G9 219870 broad.mit.edu 37 11 123893833 123893833 + Frame_Shift_Del DEL G G - TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:123893833delG uc010sad.1 + 1 114 c.114delG c.(112-114)CTGfs p.L38fs NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCACTGTGCTGGGGAACCTCC 0.572 NA 237 149 --- --- --- --- NA NA NA NA NA OR10G7 390265 broad.mit.edu 37 11 123909592 123909592 + Frame_Shift_Del DEL C C - TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr11:123909592delC uc001pzq.1 - 1 117 c.117delG c.(115-117)GGGfs p.G39fs NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGAGGAGGTTCCCCAGCACAG 0.567 NA 30 217 --- --- --- --- NA NA NA NA NA MYH13 8735 broad.mit.edu 37 17 10213124 10213124 + Frame_Shift_Del DEL G G - TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:10213124delG uc002gmk.1 - 34 4770 c.4680delC c.(4678-4680)AGCfs p.S1560fs NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1560 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GCAAGATCTTGCTCTCCTCGT 0.488 NA 5 3 --- --- --- --- NA NA NA NA NA NOTUM 147111 broad.mit.edu 37 17 79916813 79916814 + Frame_Shift_Ins INS - - A TCGA-55-1596-01A-01D-1040-01 TCGA-55-1596-11A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 30f9f0d3-2500-42e9-ae46-f6fabd818d73 f913dee6-7139-469b-b458-bd84986e2295 g.chr17:79916813_79916814insA uc010wvg.1 - 4 802_803 c.530_531insT c.(529-531)ATGfs p.M177fs NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 177 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CCCCTTACACCATGTTTGCGTT 0.599 NA 17 85 --- --- --- --- NA NA NA NA NA