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 SSU72 29101 broad.mit.edu 37 1 1500240 1500240 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:1500240C>T uc001agd.2 - 2 462 c.137G>A c.(136-138)GGA>GAA p.G46E SSU72_uc009vkg.1_Missense_Mutation_p.G46E|SSU72_uc001age.1_Missense_Mutation_p.G46E NM_014188 NP_054907 Q9NP77 SSU72_HUMAN Ssu72 RNA polymerase II CTD phosphatase homolog 46 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity 0 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GGGAGCTGGTCCTGGAAGCTT 0.458 NA 26 94 0 0 0.003954 0 0 DNAJC11 55735 broad.mit.edu 37 1 6706000 6706000 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:6706000C>T uc001aof.2 - 8 849 c.743G>A c.(742-744)CGT>CAT p.R248H DNAJC11_uc010nzt.1_Missense_Mutation_p.R210H|DNAJC11_uc001aog.2_Missense_Mutation_p.R248H|DNAJC11_uc010nzu.1_Missense_Mutation_p.R158H NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 248 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCGGATTCCACGGGATGAAAA 0.537 NA 66 203 0 0 0.00361 0 0 CAMTA1 23261 broad.mit.edu 37 1 7805036 7805036 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:7805036A>G uc001aoi.2 + 17 4531 c.4324A>G c.(4324-4326)AGT>GGT p.S1442G CAMTA1_uc010nzv.1_Missense_Mutation_p.S529G|CAMTA1_uc001aok.3_Missense_Mutation_p.S485G|CAMTA1_uc001aoj.2_Missense_Mutation_p.S398G|CAMTA1_uc009vmf.2_Missense_Mutation_p.S46G NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1442 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTGGCTGGCCAGTTATCTAGC 0.517 NA 24 103 0 0 0.004656 0 0 C1orf200 644997 broad.mit.edu 37 1 9714056 9714056 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:9714056G>T uc001aqc.3 - 2 435 c.285C>A c.(283-285)CTC>CTA p.L95L PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.3_Intron NR_027045 RecName: Full=Putative uncharacterized protein C1orf200; 0 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) ttgaagccaggagttcaaggt 0.09 NA 6 28 5.9392e-07 6.705e-07 0.001168 1 0 CELA2B 51032 broad.mit.edu 37 1 15809791 15809791 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:15809791C>A uc001awl.2 + 5 414 c.389C>A c.(388-390)CCC>CAC p.P130H NM_015849 NP_056933 P08218 CEL2B_HUMAN elastase 2B preproprotein 130 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 CTGGCTAACCCCGTCTCCCTC 0.612 NA 29 94 2.81731e-10 3.54074e-10 0.002096 1 0 DDI2 84301 broad.mit.edu 37 1 15983175 15983175 + Splice_Site SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:15983175G>T uc001awx.1 + 9 1342 c.1246_splice c.e9+1 DDI2_uc009voj.1_Splice_Site NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|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;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CCCAGACCAGGTATTTATAGA 0.468 NA 43 149 1.57019e-19 2.53548e-19 0.007835 1 0 MYOM3 127294 broad.mit.edu 37 1 24385442 24385442 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:24385442G>A uc001bin.3 - 36 4185 c.4022C>T c.(4021-4023)CCG>CTG p.P1341L MYOM3_uc001bil.3_Missense_Mutation_p.P234L|MYOM3_uc001bim.3_Missense_Mutation_p.P998L NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1341 Ig-like C2-type 4. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCCACATCCGGCAGACCTCT 0.537 NA 4 14 0 0 0.000602 0 0 AHDC1 27245 broad.mit.edu 37 1 27876408 27876408 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:27876408C>G uc009vsy.2 - 6 3188 c.2219G>C c.(2218-2220)CGC>CCC p.R740P AHDC1_uc009vsz.1_Missense_Mutation_p.R740P NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 740 Gly-rich. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CCGTCTCTTGCGCTTTGGCTT 0.677 NA 18 69 0 0 0.008871 0 0 ADC 113451 broad.mit.edu 37 1 33562427 33562427 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:33562427C>T uc001bwr.2 + 9 1460 c.873C>T c.(871-873)ATC>ATT p.I291I ADC_uc001bws.2_Silent_p.I291I|ADC_uc009vue.2_Silent_p.I291I|ADC_uc001bwt.1_Silent_p.I196I|ADC_uc001bwu.2_Silent_p.I196I|ADC_uc001bwv.2_Silent_p.I196I|ADC_uc001bww.2_Silent_p.I196I|ADC_uc001bwx.1_Silent_p.I268I|ADC_uc001bwz.1_Silent_p.I291I|ADC_uc009vuf.1_Silent_p.I133I|ADC_uc001bwy.1_Silent_p.I140I|ADC_uc009vug.2_Silent_p.I291I NM_052998 NP_443724 Q96A70 ADC_HUMAN ODC antizyme inhibitor-2 291 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CAGTCAGCATCATTGCCAAGA 0.592 NA 36 135 0 0 0.004289 0 0 EIF2C1 26523 broad.mit.edu 37 1 36381063 36381063 + Nonsense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:36381063C>T uc001bzl.2 + 15 2161 c.1948C>T c.(1948-1950)CAA>TAA p.Q650* EIF2C1_uc001bzk.2_Nonsense_Mutation_p.Q575*|EIF2C1_uc009vuy.2_RNA NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 650 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCTCCTCATCCAATTCTACAA 0.572 NA 39 85 0 0 0.004878 0 0 COL8A2 1296 broad.mit.edu 37 1 36563472 36563472 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:36563472C>A uc001bzv.1 - 2 1817 c.1810G>T c.(1810-1812)GGC>TGC p.G604C COL8A2_uc001bzw.1_Missense_Mutation_p.G539C NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 604 C1q.|Nonhelical region (NC1). angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGTTGTAGCCGCTGTGGCCA 0.622 NA 19 36 6.33239e-15 9.34442e-15 0.010504 1 0 RLF 6018 broad.mit.edu 37 1 40705942 40705942 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:40705942C>T uc001cfc.3 + 8 5599 c.5568C>T c.(5566-5568)TCC>TCT p.S1856S RLF_uc001cfd.3_Silent_p.S1547S NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1856 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CAGTTCCTTCCTTGGAAAACC 0.423 NA 38 116 0 0 0.005524 0 0 TIE1 7075 broad.mit.edu 37 1 43779579 43779579 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:43779579G>T uc001ciu.2 + 14 2428 c.2349G>T c.(2347-2349)CTG>CTT p.L783L TIE1_uc010oke.1_Silent_p.L738L|TIE1_uc009vwq.2_Silent_p.L739L|TIE1_uc010okf.1_Silent_p.L428L|TIE1_uc010okg.1_Silent_p.L428L NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 783 Helical; (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTTTAACCCTGGTGTGCATCC 0.657 NA 17 52 3.62473e-10 4.51944e-10 0.001882 1 0 ATP6V0B 533 broad.mit.edu 37 1 44441771 44441771 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:44441771G>A uc001cld.2 + 3 237 c.126G>A c.(124-126)ACG>ACA p.T42T ATP6V0B_uc001clc.2_Silent_p.T42T|ATP6V0B_uc001cle.2_5'UTR|ATP6V0B_uc001clf.2_5'UTR NM_004047 NP_004038 Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 42 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GGTTCCTGACGGAGACTTCGC 0.562 NA 15 208 0 0 0.007413 0 0 PIK3R3 8503 broad.mit.edu 37 1 46521524 46521524 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:46521524A>G uc001cpb.3 - 7 1640 c.884T>C c.(883-885)ATG>ACG p.M295T PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Missense_Mutation_p.M312T|PIK3R3_uc001cpc.3_Missense_Mutation_p.M295T|PIK3R3_uc010olw.1_Missense_Mutation_p.M341T|PIK3R3_uc010olv.1_Missense_Mutation_p.M85T NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 295 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) GATGCTATTCATTTTTTTATC 0.428 NA 27 125 0 0 0.003755 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395930 47395930 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:47395930G>T uc001cqp.3 - 12 1468 c.1417C>A c.(1417-1419)CTG>ATG p.L473M NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 473 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) AGCAGGGTCAGGGCCGTGGCC 0.542 NA 38 174 6.2361e-21 1.03672e-20 0.007835 1 0 DAB1 1600 broad.mit.edu 37 1 57611039 57611039 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:57611039G>T uc001cys.1 - 5 805 c.131C>A c.(130-132)GCC>GAC p.A44D DAB1_uc001cyt.1_Missense_Mutation_p.A44D|DAB1_uc001cyq.1_Missense_Mutation_p.A44D|DAB1_uc001cyr.1_Missense_Mutation_p.A44D|DAB1_uc009vzw.1_Missense_Mutation_p.A44D|DAB1_uc009vzx.1_Missense_Mutation_p.A44D NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 44 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 GATCAATTTGGCTTTGTACCG 0.418 NA 30 96 1.88708e-17 2.9622e-17 0.008361 1 0 DAB1 1600 broad.mit.edu 37 1 57611099 57611099 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:57611099T>A uc001cys.1 - 5 745 c.71A>T c.(70-72)CAG>CTG p.Q24L DAB1_uc001cyt.1_Missense_Mutation_p.Q24L|DAB1_uc001cyq.1_Missense_Mutation_p.Q24L|DAB1_uc001cyr.1_Missense_Mutation_p.Q24L|DAB1_uc009vzw.1_Missense_Mutation_p.Q24L|DAB1_uc009vzx.1_Missense_Mutation_p.Q24L NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 24 cell differentiation|nervous system development skin(2)|ovary(1) 3 ACTGCGATCCTGACCTAAAAA 0.458 NA 20 71 0 0 0.010504 0 0 DOCK7 85440 broad.mit.edu 37 1 63084481 63084481 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:63084481C>G uc001daq.2 - 14 1612 c.1578G>C c.(1576-1578)CCG>CCC p.P526P DOCK7_uc001dan.2_Silent_p.P418P|DOCK7_uc001dao.2_Silent_p.P418P|DOCK7_uc001dap.2_Silent_p.P526P|DOCK7_uc009wah.1_Silent_p.P526P NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 526 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 GAAGCAGCTCCGGAGTTAGGC 0.388 NA 69 242 0 0 0.00361 0 0 LEPR 3953 broad.mit.edu 37 1 66083707 66083707 + Nonsense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:66083707G>A uc001dci.2 + 16 2475 c.2273G>A c.(2272-2274)TGG>TAG p.W758* LEPR_uc001dcg.2_Nonsense_Mutation_p.W758*|LEPR_uc001dch.2_Nonsense_Mutation_p.W758*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.W758*|LEPR_uc001dck.2_Nonsense_Mutation_p.W758* NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 758 Extracellular (Potential).|Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATTGTTTCCTGGATACTATCA 0.313 NA 11 90 0 0 0.000978 0 0 SGIP1 84251 broad.mit.edu 37 1 67108500 67108500 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:67108500C>A uc001dcr.2 + 6 453 c.236C>A c.(235-237)CCT>CAT p.P79H NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 79 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TAGAACTCACCTGAGCTGGAT 0.328 NA 17 58 2.4624e-09 2.9944e-09 0.008871 1 0 TCTEX1D1 200132 broad.mit.edu 37 1 67243129 67243129 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:67243129C>A uc001dcv.2 + 5 663 c.532C>A c.(532-534)CTT>ATT p.L178I TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA NM_152665 NP_689878 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 178 0 TGCAGTTTACCTTGAGTGATT 0.363 NA 30 111 3.73148e-12 5.12265e-12 0.007291 1 0 TNNI3K 51086 broad.mit.edu 37 1 74902192 74902192 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:74902192C>T uc001dgf.1 + 19 1911 c.1860C>T c.(1858-1860)AAC>AAT p.N620N TNNI3K_uc001dgd.2_Silent_p.N721N|TNNI3K_uc001dge.1_Silent_p.N721N NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 620 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 ATGAAGACAACATGACAAAAC 0.358 NA 10 74 0 0 0.000978 0 0 SLC44A5 204962 broad.mit.edu 37 1 75672394 75672394 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:75672394C>A uc001dgu.2 - 24 2202 c.2058G>T c.(2056-2058)CTG>CTT p.L686L SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Silent_p.L680L|SLC44A5_uc010orb.1_Silent_p.L556L NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 686 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 CATTTCTTTCCAGATCTTCAC 0.413 NA 46 155 1.56793e-16 2.38059e-16 0.00361 1 0 LPHN2 23266 broad.mit.edu 37 1 82447508 82447508 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:82447508G>T uc001dit.3 + 18 3260 c.3079G>T c.(3079-3081)GCT>TCT p.A1027S LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A1027S|LPHN2_uc001div.2_Missense_Mutation_p.A1027S|LPHN2_uc009wcd.2_Missense_Mutation_p.A1027S|LPHN2_uc001diw.2_Missense_Mutation_p.A611S|LPHN2_uc009wce.1_Missense_Mutation_p.A128S NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1040 Helical; Name=6; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GGTGCTTGGCGCTTTCGCTCT 0.383 NA 110 365 7.036e-43 1.4072e-42 0.00361 1 0 C1orf52 148423 broad.mit.edu 37 1 85725280 85725280 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:85725280C>A uc001dkv.2 - 1 76 c.37G>T c.(37-39)GCG>TCG p.A13S C1orf52_uc001dkw.2_RNA|C1orf52_uc001dkx.3_RNA|C1orf52_uc009wcn.2_Missense_Mutation_p.A13S NM_198077 NP_932343 Q8N6N3 CA052_HUMAN hypothetical protein LOC148423 13 ovary(1) 1 all cancers(265;0.0105)|Epithelial(280;0.0293) CCGTATGCCGCAAAATAGCTC 0.652 NA OREG0013580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 16 8.12818e-05 8.70246e-05 0.001984 1 0 GBP1 2633 broad.mit.edu 37 1 89523826 89523826 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:89523826G>A uc001dmx.2 - 6 943 c.723C>T c.(721-723)CCC>CCT p.P241P NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 241 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TGCGGTGAACGGGCCGATCAA 0.438 NA 124 313 0 0 0.00361 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399760 90399760 + Missense_Mutation SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:90399760T>G uc001dnm.2 + 3 1558 c.1133T>G c.(1132-1134)TTT>TGT p.F378C LRRC8D_uc001dnn.2_Missense_Mutation_p.F378C NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 378 Helical; (Potential). integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GTTTATGGCTTTATCTGCCTC 0.368 NA 19 164 0 0 0.006122 0 0 ABCA4 24 broad.mit.edu 37 1 94496568 94496568 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:94496568G>T uc001dqh.2 - 28 4341 c.4237C>A c.(4237-4239)CAG>AAG p.Q1413K NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1413 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AAGGTGTACTGCTGCCCATAT 0.552 NA 10 49 0.000673444 0.000713271 0.008291 1 0 LPPR4 9890 broad.mit.edu 37 1 99772348 99772348 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:99772348A>T uc001dse.2 + 7 2180 c.2074A>T c.(2074-2076)AGC>TGC p.S692C LPPR4_uc010oue.1_Missense_Mutation_p.S634C NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 692 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CAACATTGATAGCAATGAGCA 0.507 NA 13 51 0 0 0.00245 0 0 S1PR1 1901 broad.mit.edu 37 1 101704717 101704717 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:101704717C>A uc001dud.2 + 2 691 c.177C>A c.(175-177)ATC>ATA p.I59I S1PR1_uc009weg.2_Silent_p.I59I NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 59 Helical; Name=1; (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 GCTGCTTTATCATCCTGGAGA 0.458 NA OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 113 1.07637e-12 1.50921e-12 0.004878 1 0 AMY1A 276 broad.mit.edu 37 1 104297213 104297213 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:104297213G>T uc001duy.2 + 7 1185 c.971G>T c.(970-972)GGA>GTA p.G324V AMY1A_uc001duz.2_Missense_Mutation_p.G324V NM_001008221 NP_001008222 P04745 AMY1_HUMAN salivary amylase alpha 1A precursor 324 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding|protein binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) GGCGCTGGAGGAGCCTCTATA 0.413 Pancreas(131;743 2392 43382 44986) NA 36 249 4.60868e-44 9.24082e-44 0.00361 1 0 FAM40A 85369 broad.mit.edu 37 1 110584388 110584388 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:110584388A>T uc001dza.1 + 8 809 c.790A>T c.(790-792)ATC>TTC p.I264F FAM40A_uc001dyz.1_Missense_Mutation_p.I169F|FAM40A_uc009wfp.1_Missense_Mutation_p.I88F NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 264 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) GCCATTTGCCATCATGCTGTT 0.532 NA 75 258 0 0 0.00361 0 0 KCNC4 3749 broad.mit.edu 37 1 110754218 110754218 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:110754218G>T uc001dzh.2 + 1 154 c.97G>T c.(97-99)GAG>TAG p.E33* KCNC4_uc001dzf.2_Nonsense_Mutation_p.E33*|KCNC4_uc009wfr.2_Nonsense_Mutation_p.E33*|KCNC4_uc001dzg.2_Nonsense_Mutation_p.E33*|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 33 Cytoplasmic (Potential). synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GGCCAAGGGCGAGGCGTCGGA 0.627 NA 12 39 5.50884e-06 6.07978e-06 0.001368 1 0 CHI3L2 1117 broad.mit.edu 37 1 111778693 111778693 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:111778693G>T uc001eam.2 + 7 724 c.653G>T c.(652-654)TGG>TTG p.W218L CHI3L2_uc001ean.2_Missense_Mutation_p.W208L|CHI3L2_uc001eao.2_Missense_Mutation_p.W139L|CHI3L2_uc009wga.2_Missense_Mutation_p.W139L NM_004000 NP_003991 Q15782 CH3L2_HUMAN chitinase 3-like 2 isoform a 218 chitin catabolic process extracellular space cation binding|chitinase activity central_nervous_system(1) 1 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CATGGGTCTTGGGAAAAGCCC 0.512 NA 48 165 8.72198e-27 1.56916e-26 0.00361 1 0 SLC16A1 6566 broad.mit.edu 37 1 113456702 113456702 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:113456702G>A uc001ecx.2 - 5 2146 c.1314C>T c.(1312-1314)TTC>TTT p.F438F SLC16A1_uc001ecy.2_Silent_p.F438F NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 438 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CCATGCCAATGAAGAGATAGA 0.398 NA 42 163 0 0 0.007835 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964605 119964605 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:119964605G>C uc001ehs.2 + 3 1254 c.481G>C c.(481-483)GCT>CCT p.A161P HSD3B2_uc001eht.2_Missense_Mutation_p.A161P|HSD3B2_uc001ehu.2_Intron NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 161 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CAAAAAGCTTGCTGAGAAGGC 0.502 NA 41 136 0 0 0.009718 0 0 C1orf56 54964 broad.mit.edu 37 1 151020974 151020974 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:151020974C>A uc001ewn.2 + 1 716 c.651C>A c.(649-651)ACC>ACA p.T217T NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 217 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTCGGGCACCATGAGCCGGA 0.677 GBM(146;891 3320 6873) NA OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 171 4.6707e-30 8.76312e-30 0.00361 1 0 FLG 2312 broad.mit.edu 37 1 152277375 152277375 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:152277375G>C uc001ezu.1 - 3 10023 c.9987C>G c.(9985-9987)GAC>GAG p.D3329E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3329 Filaggrin 20.|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) AGTGTCTACTGTCTCTGACTG 0.572 NA Ichthyosis 228 650 0 0 0.00361 0 0 FLG 2312 broad.mit.edu 37 1 152282083 152282083 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:152282083C>G uc001ezu.1 - 3 5315 c.5279G>C c.(5278-5280)GGA>GCA p.G1760A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1760 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) CCCTGAACGTCCAGACCTTTC 0.597 NA Ichthyosis 223 394 0 0 0.00361 0 0 LCE1E 353135 broad.mit.edu 37 1 152759841 152759841 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:152759841C>T uc001fan.2 + 2 119 c.66C>T c.(64-66)CCC>CCT p.P22P NM_178353 NP_848130 Q5T753 LCE1E_HUMAN late cornified envelope 1E 22 Cys-rich. keratinization 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) agtgccctcccaagtgTCCCA 0.517 NA 97 259 0 0 0.00361 0 0 NUP210L 91181 broad.mit.edu 37 1 153995618 153995618 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:153995618C>T uc001fdw.2 - 31 4350 c.4278G>A c.(4276-4278)CAG>CAA p.Q1426Q NUP210L_uc009woq.2_Silent_p.Q335Q|NUP210L_uc010peh.1_Silent_p.Q1426Q NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1426 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCAGATAAAGCTGGGTATTGT 0.408 NA 41 135 0 0 0.00874 0 0 BCAN 63827 broad.mit.edu 37 1 156618448 156618448 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:156618448C>G uc001fpp.2 + 6 1194 c.858C>G c.(856-858)ACC>ACG p.T286T BCAN_uc001fpo.2_Silent_p.T286T NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 286 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGATTGCCACCACGGGCCAAC 0.607 NA 99 199 0 0 0.00361 0 0 SH2D2A 9047 broad.mit.edu 37 1 156784833 156784833 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:156784833G>T uc001fqd.2 - 3 444 c.304C>A c.(304-306)CGG>AGG p.R102R SH2D2A_uc001fqc.1_Silent_p.R74R|SH2D2A_uc009wsh.2_Silent_p.R102R|SH2D2A_uc001fqe.2_Silent_p.R84R|SH2D2A_uc010phs.1_Silent_p.R102R|NTRK1_uc001fqf.1_5'Flank|NTRK1_uc009wsi.1_5'Flank NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 102 SH2. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACTCACCTCCGGGTGATGAAG 0.637 NA 5 51 0.000602214 0.000638688 0.000602 1 0 KIRREL 55243 broad.mit.edu 37 1 158063219 158063219 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:158063219A>T uc001frn.3 + 12 1966 c.1562A>T c.(1561-1563)TAC>TTC p.Y521F KIRREL_uc010pib.1_Missense_Mutation_p.Y421F|KIRREL_uc009wsq.2_Missense_Mutation_p.Y357F|KIRREL_uc001fro.3_Missense_Mutation_p.Y335F NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 521 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) TTCTTCCTCTACCGGCGCCGC 0.602 NA 112 153 0 0 0.00361 0 0 CD1D 912 broad.mit.edu 37 1 158151904 158151904 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:158151904A>T uc001frr.2 + 4 910 c.411A>T c.(409-411)CAA>CAT p.Q137H CD1D_uc009wsr.1_Missense_Mutation_p.Q137H|CD1D_uc009wss.2_Missense_Mutation_p.Q137H|CD1D_uc009wst.1_Missense_Mutation_p.Q33H NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 137 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) TAGCATTTCAAGGAAAAGATA 0.512 NA 159 505 0 0 0.00361 0 0 SPTA1 6708 broad.mit.edu 37 1 158644393 158644393 + Silent SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:158644393A>T uc001fst.1 - 9 1384 c.1185T>A c.(1183-1185)GCT>GCA p.A395A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 395 Spectrin 5. A -> G (in Ref. 3; AAA60575). 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) GCAGCTCATCAGCATTGATCG 0.507 NA 101 232 0 0 0.00361 0 0 ATP1A4 480 broad.mit.edu 37 1 160146346 160146346 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:160146346T>A uc001fve.3 + 17 3023 c.2544T>A c.(2542-2544)GAT>GAA p.D848E ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.D351E|ATP1A4_uc001fvh.2_5'Flank NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 848 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAAGACGGATAATCTGGTGA 0.567 NA 25 70 0 0 0.003954 0 0 LY9 4063 broad.mit.edu 37 1 160784485 160784485 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:160784485C>A uc001fwu.2 + 4 1056 c.1006C>A c.(1006-1008)CAT>AAT p.H336N LY9_uc010pjs.1_Missense_Mutation_p.H336N|LY9_uc001fwv.2_Missense_Mutation_p.H336N|LY9_uc001fww.2_Missense_Mutation_p.H336N|LY9_uc001fwx.2_Missense_Mutation_p.H336N|LY9_uc001fwy.1_Missense_Mutation_p.H238N|LY9_uc001fwz.2_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 336 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CGGCCCCTACCATGCCTACGT 0.572 NA 29 68 9.80776e-20 1.59023e-19 0.00632 1 0 DPT 1805 broad.mit.edu 37 1 168670292 168670292 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:168670292T>A uc001gfp.2 - 3 518 c.502A>T c.(502-504)ATC>TTC p.I168F NM_001937 NP_001928 Q07507 DERM_HUMAN dermatopontin precursor 168 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix ovary(1) 1 all_hematologic(923;0.208) GCTCCTCGGATATAGTAATCA 0.443 NA 57 207 0 0 0.00361 0 0 SELP 6403 broad.mit.edu 37 1 169566297 169566297 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:169566297A>T uc001ggi.3 - 11 1888 c.1823T>A c.(1822-1824)CTG>CAG p.L608Q SELP_uc001ggh.2_Missense_Mutation_p.L443Q|SELP_uc009wvr.2_Missense_Mutation_p.L608Q NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 608 Extracellular (Potential).|Sushi 7. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GGGCCCCTCCAGCTTAAAGCC 0.483 NA 15 138 0 0 0.003163 0 0 C1orf9 51430 broad.mit.edu 37 1 172558355 172558355 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:172558355G>T uc001giq.3 + 18 2430 c.2114G>T c.(2113-2115)AGT>ATT p.S705I C1orf9_uc010pmm.1_Missense_Mutation_p.S705I|C1orf9_uc009wwd.2_Missense_Mutation_p.S661I|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 705 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) TTAAGTAGTAGTATGCACCAG 0.388 Colon(43;174 953 11768 38880 47057) NA 75 165 1.15074e-40 2.27264e-40 0.00361 1 0 PAPPA2 60676 broad.mit.edu 37 1 176738883 176738883 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:176738883C>T uc001gkz.2 + 16 5628 c.4464C>T c.(4462-4464)CGC>CGT p.R1488R PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1488 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTCTGAAACGCTGCTCAATCT 0.522 NA 22 222 0 0 0.001882 0 0 ASTN1 460 broad.mit.edu 37 1 176927497 176927497 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:176927497C>G uc001glc.2 - 10 1932 c.1720G>C c.(1720-1722)GAT>CAT p.D574H ASTN1_uc001glb.1_Missense_Mutation_p.D574H|ASTN1_uc001gld.1_Missense_Mutation_p.D574H|ASTN1_uc009wwx.1_Missense_Mutation_p.D574H NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 582 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCCACAGCATCCTCCATCACA 0.532 NA 34 86 0 0 0.003755 0 0 ASTN1 460 broad.mit.edu 37 1 176998824 176998824 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:176998824C>G uc001glc.2 - 5 1278 c.1066G>C c.(1066-1068)GAC>CAC p.D356H ASTN1_uc001glb.1_Missense_Mutation_p.D356H|ASTN1_uc001gld.1_Missense_Mutation_p.D356H|ASTN1_uc009wwx.1_Missense_Mutation_p.D356H|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 356 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 AGCTGGGGGTCGTTTTCTGCC 0.507 NA 21 70 0 0 0.001882 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885793 180885793 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:180885793C>T uc001gok.2 + 2 621 c.554C>T c.(553-555)CCG>CTG p.P185L NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 185 ovary(3)|skin(1) 4 AGGGGGAGCCCGTGGCCTCCA 0.642 NA 46 148 0 0 0.00361 0 0 CACNA1E 777 broad.mit.edu 37 1 181546938 181546938 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:181546938C>A uc001gow.2 + 4 714 c.549C>A c.(547-549)CAC>CAA p.H183Q CACNA1E_uc009wxr.2_Missense_Mutation_p.H90Q|CACNA1E_uc009wxs.2_Missense_Mutation_p.H90Q NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 183 I.|Extracellular (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCAATACTCACGTGGACCTGA 0.552 NA 12 28 7.03913e-09 8.48139e-09 0.001368 1 0 C1orf25 81627 broad.mit.edu 37 1 185106753 185106753 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:185106753C>G uc001grf.3 - 10 1770 c.1498G>C c.(1498-1500)GGT>CGT p.G500R C1orf25_uc010pon.1_Missense_Mutation_p.G344R NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 500 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 ACCATATTACCATCCTTCTGA 0.348 NA 11 170 0 0 0.008291 0 0 HMCN1 83872 broad.mit.edu 37 1 185959564 185959564 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:185959564G>A uc001grq.1 + 22 3595 c.3366G>A c.(3364-3366)CCG>CCA p.P1122P HMCN1_uc001grr.1_Silent_p.P463P NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1122 Ig-like C2-type 8. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCATCTCACCGTTCTCTCCAA 0.468 NA 53 126 0 0 0.00361 0 0 HMCN1 83872 broad.mit.edu 37 1 186114898 186114898 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:186114898G>T uc001grq.1 + 93 14680 c.14451G>T c.(14449-14451)TGG>TGT p.W4817C HMCN1_uc001grs.1_Missense_Mutation_p.W386C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4817 TSP type-1 6. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATGGAAGTTGGGGAAGCTGGC 0.502 NA 33 119 2.35958e-20 3.87365e-20 0.009718 1 0 KCNT2 343450 broad.mit.edu 37 1 196197364 196197364 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:196197364G>T uc001gtd.1 - 28 3458 c.3398C>A c.(3397-3399)ACT>AAT p.T1133N KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T1066N|KCNT2_uc001gtf.1_Missense_Mutation_p.T1109N|KCNT2_uc001gtg.1_RNA NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1133 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TCAAAGTTGAGTTTCCTCCCG 0.398 NA 10 49 1.76689e-08 2.0843e-08 0.006214 1 0 PTPRC 5788 broad.mit.edu 37 1 198721475 198721475 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:198721475G>T uc001gur.1 + 30 3479 c.3299G>T c.(3298-3300)CGT>CTT p.R1100L PTPRC_uc001gus.1_Missense_Mutation_p.R1052L|PTPRC_uc001gut.1_Missense_Mutation_p.R939L NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1100 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TATACCCTTCGTGTCTTTGAA 0.358 NA 16 86 4.14922e-12 5.66652e-12 0.004007 1 0 PPFIA4 8497 broad.mit.edu 37 1 203024729 203024729 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:203024729G>T uc001gyz.2 + 3 1074 c.481G>T c.(481-483)GGC>TGC p.G161C PPFIA4_uc009xaj.2_Missense_Mutation_p.G792C|PPFIA4_uc010pqf.1_Missense_Mutation_p.G374C|PPFIA4_uc001gza.2_Missense_Mutation_p.G161C|PPFIA4_uc001gzb.1_5'Flank NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 161 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 ACCACTCAGCGGCCGCTCCAC 0.662 NA 12 55 3.32936e-07 3.77487e-07 0.006122 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204237428 204237428 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:204237428C>T uc001hau.2 - 4 432 c.115G>A c.(115-117)GCC>ACC p.A39T NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 39 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GCTTTGCGGGCTGTGCGAGTT 0.602 NA 11 54 0 0 0.000978 0 0 NUAK2 81788 broad.mit.edu 37 1 205290708 205290708 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:205290708C>G uc001hce.2 - 1 176 c.49G>C c.(49-51)GCA>CCA p.A17P NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 17 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GCTAGCTCTGCGGCCGAGGGA 0.677 NA 11 21 0 0 0.008291 0 0 MFSD4 148808 broad.mit.edu 37 1 205538353 205538353 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:205538353G>C uc001hcv.3 + 1 242 c.156G>C c.(154-156)CAG>CAC p.Q52H MFSD4_uc010prk.1_Missense_Mutation_p.Q52H|MFSD4_uc010prl.1_RNA NM_181644 NP_857595 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 52 transmembrane transport integral to membrane skin(2)|central_nervous_system(1) 3 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CGCTGCCCCAGATCTCCTGGG 0.632 NA 5 10 0 0 0.001984 0 0 HHIPL2 79802 broad.mit.edu 37 1 222713410 222713410 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:222713410C>A uc001hnh.1 - 4 1450 c.1392G>T c.(1390-1392)TGG>TGT p.W464C NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 464 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CCTTTGCTCTCCAGCCATAGT 0.488 NA 47 148 3.21987e-24 5.62585e-24 0.00361 1 0 C1orf55 163859 broad.mit.edu 37 1 226176062 226176062 + Silent SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:226176062T>G uc001hpu.3 - 6 722 c.669A>C c.(667-669)GCA>GCC p.A223A C1orf55_uc001hpv.2_Silent_p.A223A NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 223 lung(1) 1 Breast(184;0.197) TGGACCCTTCTGCAGTCTCTA 0.423 NA 58 131 0 0 0.00361 0 0 ITPKB 3707 broad.mit.edu 37 1 226822507 226822507 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:226822507C>A uc010pvo.1 - 8 3046 c.2706G>T c.(2704-2706)ACG>ACT p.T902T NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 902 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) CAGGCAGGGGCGTGGTTTTCC 0.597 Colon(84;110 1851 5306 33547) NA 18 49 1.33834e-09 1.64269e-09 0.007413 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227219083 227219083 + Silent SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:227219083T>G uc001hqr.2 - 27 4529 c.3586A>C c.(3586-3588)AGA>CGA p.R1196R CDC42BPA_uc001hqq.2_Silent_p.R495R|CDC42BPA_uc001hqs.2_Silent_p.R1115R|CDC42BPA_uc009xes.2_Silent_p.R1168R|CDC42BPA_uc010pvs.1_Silent_p.R1176R|CDC42BPA_uc001hqp.2_Silent_p.R352R|CDC42BPA_uc001hqt.2_Silent_p.R74R|CDC42BPA_uc001hqu.1_Silent_p.R403R NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 1209 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) GAGCGGTCTCTGAATTTGTTT 0.418 NA 147 234 0 0 0.00361 0 0 OBSCN 84033 broad.mit.edu 37 1 228509335 228509335 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:228509335G>C uc009xez.1 + 55 14837 c.14793G>C c.(14791-14793)TGG>TGC p.W4931C OBSCN_uc001hsn.2_Missense_Mutation_p.W4931C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4931 Ig-like 48. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GAGCCCGCTGGCTGAAGGATG 0.637 NA 19 56 0 0 0.006122 0 0 ACTA1 58 broad.mit.edu 37 1 229568343 229568343 + Silent SNP G G T rs121909526 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:229568343G>T uc001htm.2 - 3 519 c.414C>A c.(412-414)ATC>ATA p.I138I NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 138 I -> M (in NEM3; autosomal recessive). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GCACGGCCTGGATGGCCACGT 0.498 NA 54 81 7.50695e-29 1.38212e-28 0.00361 1 0 NID1 4811 broad.mit.edu 37 1 236192920 236192920 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:236192920C>A uc001hxo.2 - 7 1770 c.1668G>T c.(1666-1668)GTG>GTT p.V556V NID1_uc009xgd.2_Silent_p.V556V NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 556 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GAATCTGCGGCACGCGGCCCT 0.642 NA 7 19 3.86212e-05 4.16897e-05 0.008291 1 0 ACTN2 88 broad.mit.edu 37 1 236907995 236907995 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:236907995G>T uc001hyf.2 + 12 1529 c.1325G>T c.(1324-1326)CGG>CTG p.R442L ACTN2_uc001hyg.2_Missense_Mutation_p.R234L|ACTN2_uc009xgi.1_Missense_Mutation_p.R442L|ACTN2_uc010pxu.1_Missense_Mutation_p.R131L|ACTN2_uc001hyh.2_Missense_Mutation_p.R130L NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 442 Spectrin 2. 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) GCTCTGCTGCGGAAGCACGAG 0.592 NA 19 76 4.63292e-17 7.15832e-17 0.008871 1 0 ZP4 57829 broad.mit.edu 37 1 238053457 238053457 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:238053457G>T uc001hym.2 - 2 195 c.195C>A c.(193-195)CAC>CAA p.H65Q LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 65 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCTGCAGCTCGTGCAGCAGCC 0.552 NSCLC(166;160 2029 11600 18754 19936) NA 47 135 8.86878e-18 1.40052e-17 0.00361 1 0 FMN2 56776 broad.mit.edu 37 1 240255646 240255646 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:240255646G>T uc010pyd.1 + 1 462 c.237G>T c.(235-237)CGG>CGT p.R79R FMN2_uc010pye.1_Silent_p.R79R NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 79 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCAACCTGCGGATCAGGAAGA 0.552 NA 10 42 4.3838e-07 4.95615e-07 0.001855 1 0 NLRP3 114548 broad.mit.edu 37 1 247587961 247587961 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:247587961T>C uc001icr.2 + 5 1354 c.1216T>C c.(1216-1218)TTC>CTC p.F406L NLRP3_uc001ics.2_Missense_Mutation_p.F406L|NLRP3_uc001icu.2_Missense_Mutation_p.F406L|NLRP3_uc001icw.2_Missense_Mutation_p.F406L|NLRP3_uc001icv.2_Missense_Mutation_p.F406L|NLRP3_uc010pyw.1_Missense_Mutation_p.F404L|NLRP3_uc001ict.1_Missense_Mutation_p.F404L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 406 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CGAGGTCCTCTTCACCATGTG 0.532 NA 27 133 0 0 0.004656 0 0 OR13G1 441933 broad.mit.edu 37 1 247835510 247835510 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:247835510C>A uc001idi.1 - 1 834 c.834G>T c.(832-834)GTG>GTT p.V278V NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATGTGGGAGTCACAAGAGTAT 0.438 NA 60 112 1.1362e-29 2.12162e-29 0.00361 1 0 TRIM58 25893 broad.mit.edu 37 1 248028078 248028078 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:248028078G>A uc001ido.2 + 3 636 c.588G>A c.(586-588)GAG>GAA p.E196E NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 196 Potential. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 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) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGCCCAGGAGGAGCAACGGC 0.612 NA 5 64 0 0 0.004482 0 0 OR2L8 391190 broad.mit.edu 37 1 248112202 248112202 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:248112202G>T uc001idt.1 + 1 43 c.43G>T c.(43-45)GGG>TGG p.G15W OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 15 Extracellular (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) CATCTTATTGGGGCTGTTTCC 0.358 NA 55 167 5.73376e-24 9.97395e-24 0.00361 1 0 OR14I1 401994 broad.mit.edu 37 1 248844970 248844970 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:248844970C>A uc001ieu.1 - 1 636 c.636G>T c.(634-636)ATG>ATT p.M212I NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 212 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGAGATCATCATGAGAATAA 0.493 NA 49 95 4.10826e-27 7.44209e-27 0.00361 1 0 OR14I1 401994 broad.mit.edu 37 1 248845065 248845065 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:248845065G>A uc001ieu.1 - 1 541 c.541C>T c.(541-543)CAT>TAT p.H181Y NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCCAACACATGAGGGATGTCA 0.502 NA 7 98 0 0 0.001984 0 0 RBM17 84991 broad.mit.edu 37 10 6157491 6157491 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:6157491G>C uc001ijb.2 + 12 1404 c.1178G>C c.(1177-1179)AGG>ACG p.R393T RBM17_uc010qav.1_Missense_Mutation_p.R393T|RBM17_uc001ijc.2_RNA NM_032905 NP_116294 Q96I25 SPF45_HUMAN RNA binding motif protein 17 393 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding 0 GACAAATTCAGGGTCTTGGAT 0.408 NA 38 167 0 0 0.005524 0 0 GATA3 2625 broad.mit.edu 37 10 8105983 8105983 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:8105983C>A uc001ika.2 + 4 1360 c.803C>A c.(802-804)GCA>GAA p.A268E GATA3_uc001ijz.2_Missense_Mutation_p.A269E NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 268 GATA-type 1. aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 AACTGTGGGGCAACCTCGACC 0.552 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 30 121 2.81731e-10 3.54074e-10 0.002096 1 0 ITGA8 8516 broad.mit.edu 37 10 15628598 15628598 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:15628598T>A uc001ioc.1 - 23 2357 c.2357A>T c.(2356-2358)CAG>CTG p.Q786L ITGA8_uc010qcb.1_Missense_Mutation_p.Q771L NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 786 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TATTTCCACCTGCGCTACAGC 0.368 NA 14 54 0 0 0.006122 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24889599 24889599 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:24889599C>A uc001isb.2 - 14 3595 c.3108G>T c.(3106-3108)CAG>CAT p.Q1036H ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.Q1036H|ARHGAP21_uc010qdc.1_Missense_Mutation_p.Q871H NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1035 Interaction with ARF1 and ARF6.|PH. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TGCTGCTCTCCTGGATCGTCT 0.443 NA 25 131 1.66031e-10 2.1136e-10 0.003954 1 0 ALOX5 240 broad.mit.edu 37 10 45938974 45938974 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:45938974G>A uc001jce.2 + 11 1661 c.1562G>A c.(1561-1563)CGC>CAC p.R521H ALOX5_uc009xmt.2_Missense_Mutation_p.R489H|ALOX5_uc010qfg.1_Missense_Mutation_p.R521H NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 521 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) ATGCGGGGCCGCAAGTCCTCA 0.692 NA 4 32 0 0 0.009096 0 0 PPYR1 5540 broad.mit.edu 37 10 47087824 47087824 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:47087824G>A uc001jee.2 + 3 1460 c.1041G>A c.(1039-1041)GAG>GAA p.E347E ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.E347E NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 347 Cytoplasmic (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 CCCCCCTGGAGGAGTCGGAGC 0.557 NA 21 147 0 0 0.010504 0 0 ASAH2 56624 broad.mit.edu 37 10 51978271 51978271 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:51978271T>A uc001jjd.2 - 7 1013 c.1013A>T c.(1012-1014)CAG>CTG p.Q338L ASAH2_uc009xos.2_Missense_Mutation_p.Q338L NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 338 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 AATTCTCACCTGTCCAGGTAG 0.393 NA 30 31 0 0 0.00361 0 0 EGR2 1959 broad.mit.edu 37 10 64575716 64575716 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:64575716A>G uc010qim.1 - 2 228 c.74T>C c.(73-75)ATC>ACC p.I25T EGR2_uc010qin.1_5'UTR|EGR2_uc001jmi.2_Missense_Mutation_p.I25T|EGR2_uc010qio.1_Missense_Mutation_p.I38T|EGR2_uc009xph.2_Missense_Mutation_p.I25T NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 25 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CACCGGGTAGATGTTGTCAGA 0.572 NA 74 140 0 0 0.00361 0 0 POLR3A 11128 broad.mit.edu 37 10 79784770 79784770 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:79784770C>A uc001jzn.2 - 4 543 c.449G>T c.(448-450)TGC>TTC p.C150F NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 150 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TTTCTTCCGGCACTTGTCAGA 0.468 NA 43 76 7.53189e-24 1.30442e-23 0.007835 1 0 PAX2 5076 broad.mit.edu 37 10 102509514 102509514 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:102509514G>A uc001krk.3 + 2 605 c.55G>A c.(55-57)GGT>AGT p.G19S PAX2_uc001krl.3_Missense_Mutation_p.G19S|PAX2_uc001krm.3_Missense_Mutation_p.G19S|PAX2_uc001kro.3_Missense_Mutation_p.G19S|PAX2_uc001krn.3_Missense_Mutation_p.G19S|PAX2_uc010qps.1_Missense_Mutation_p.G18S|PAX2_uc001krp.1_Missense_Mutation_p.G23S NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 19 Paired. anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) AGGGCACGGGGGTGTGAACCA 0.672 NA 22 48 0 0 0.00333 0 0 BTRC 8945 broad.mit.edu 37 10 103291028 103291028 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:103291028G>T uc001kta.2 + 7 891 c.778G>T c.(778-780)GGG>TGG p.G260W BTRC_uc001ktb.2_Missense_Mutation_p.G224W|BTRC_uc001ktc.2_Missense_Mutation_p.G234W NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 260 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) ACCTCCTGACGGGAATGCTCC 0.313 NA 32 121 2.32173e-10 2.93664e-10 0.004878 1 0 SORCS3 22986 broad.mit.edu 37 10 106960961 106960961 + Silent SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:106960961A>G uc001kyi.1 + 16 2438 c.2211A>G c.(2209-2211)TCA>TCG p.S737S SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 737 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAGACCACTCAGGATCAGTGG 0.493 NSCLC(116;1497 1690 7108 13108 14106) NA 53 114 0 0 0.00361 0 0 ATRNL1 26033 broad.mit.edu 37 10 116930936 116930936 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:116930936G>A uc001lcg.2 + 8 1620 c.1234G>A c.(1234-1236)GAG>AAG p.E412K ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.E412K|ATRNL1_uc009xyq.2_Nonsense_Mutation_p.W382* NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 412 Kelch 2.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GTATGCTGTGGAGGGACATTC 0.373 NA 48 104 0 0 0.00361 0 0 VAX1 11023 broad.mit.edu 37 10 118896117 118896117 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:118896117G>A uc009xyx.2 - 2 540 c.295C>T c.(295-297)CGG>TGG p.R99W VAX1_uc001ldb.1_Missense_Mutation_p.R99W NM_001112704 NP_001106175 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 isoform a 99 nucleus sequence-specific DNA binding ovary(2) 2 all cancers(201;0.0108) CTCTTAGGCCGGTCCAAGTCC 0.657 NA 9 57 0 0 0.000978 0 0 CPXM2 119587 broad.mit.edu 37 10 125528162 125528162 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:125528162C>A uc001lhk.1 - 9 1504 c.1179G>T c.(1177-1179)GTG>GTT p.V393V CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 393 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) ACACGAACTGCACCAGCAGCA 0.627 NA 43 120 2.24722e-20 3.69689e-20 0.00361 1 0 STK32C 282974 broad.mit.edu 37 10 134040330 134040330 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr10:134040330C>A uc001lle.1 - 4 753 c.613G>T c.(613-615)GAC>TAC p.D205Y STK32C_uc001lld.1_Missense_Mutation_p.D88Y|STK32C_uc010quu.1_Missense_Mutation_p.D218Y|STK32C_uc009ybc.1_Missense_Mutation_p.D88Y|STK32C_uc009ybd.1_Missense_Mutation_p.D88Y|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 205 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CGCAGGTAGTCCAGAGCCAGT 0.642 NA 20 60 7.45023e-12 1.00699e-11 0.010504 1 0 LRRC56 115399 broad.mit.edu 37 11 552165 552165 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:552165G>T uc010qvz.1 + 12 1619 c.1114G>T c.(1114-1116)GAC>TAC p.D372Y NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 372 skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCAGAGCCTGACCCTGCAGA 0.662 NA 30 45 3.1745e-13 4.51535e-13 0.008361 1 0 MUC2 4583 broad.mit.edu 37 11 1103934 1103934 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:1103934A>T uc001lsx.1 + 51 15346 c.15319A>T c.(15319-15321)ATG>TTG p.M5107L NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 5107 CTCK. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GACATTTGTCATGTGAGTCCC 0.672 NA 2 1 0 0 0.004672 0 0 OR51B2 79345 broad.mit.edu 37 11 5345155 5345155 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:5345155G>T uc001mao.1 - 1 428 c.373C>A c.(373-375)CGC>AGC p.R125S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGGATTGCGGATGGCAATG 0.453 NA 34 55 8.4185e-14 1.20834e-13 0.002445 1 0 OLFML1 283298 broad.mit.edu 37 11 7531356 7531356 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:7531356C>A uc001mfi.2 + 3 1498 c.1146C>A c.(1144-1146)GCC>GCA p.A382A OLFML1_uc010raz.1_Silent_p.A246A|OLFML1_uc010rba.1_Silent_p.A382A NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 precursor 382 Olfactomedin-like. extracellular region ovary(2) 2 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AGCTCTATGCCTGGAATGAAG 0.463 NA 23 46 7.41877e-09 8.89882e-09 0.001882 1 0 NELL1 4745 broad.mit.edu 37 11 20948973 20948973 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:20948973G>C uc001mqe.2 + 8 1032 c.879G>C c.(877-879)AGG>AGC p.R293S NELL1_uc001mqf.2_Missense_Mutation_p.R293S|NELL1_uc009yid.2_Missense_Mutation_p.R321S|NELL1_uc010rdo.1_Missense_Mutation_p.R236S|NELL1_uc010rdp.1_Missense_Mutation_p.R53S NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 293 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 ACCATTGCAGGAACTGCACTT 0.383 NA 12 48 0 0 0.000978 0 0 ANO5 203859 broad.mit.edu 37 11 22248963 22248963 + Missense_Mutation SNP G G A rs150652958 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:22248963G>A uc001mqi.2 + 7 796 c.479G>A c.(478-480)CGC>CAC p.R160H ANO5_uc001mqj.2_Missense_Mutation_p.R159H NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 160 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GATATTCCCCGCCCTAAGCAC 0.433 NA 50 104 0 0 0.00361 0 0 SLC5A12 159963 broad.mit.edu 37 11 26700315 26700315 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:26700315C>A uc001mra.2 - 13 1836 c.1523G>T c.(1522-1524)AGT>ATT p.S508I SLC5A12_uc001mrb.2_RNA NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 508 Helical; (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 GCCCACTGCACTGTAGTAAAG 0.463 NA 44 86 7.05121e-23 1.20008e-22 0.002522 1 0 BBOX1 8424 broad.mit.edu 37 11 27147256 27147256 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:27147256A>T uc001mre.1 + 8 1260 c.892A>T c.(892-894)ACA>TCA p.T298S BBOX1_uc009yih.1_Missense_Mutation_p.T298S|BBOX1_uc001mrg.1_Missense_Mutation_p.T298S NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 298 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) aactagggacacaatatttga 0.129 NA 11 22 0 0 0.008291 0 0 LMO2 4005 broad.mit.edu 37 11 33886333 33886333 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:33886333G>A uc001mve.2 - 2 511 c.72C>T c.(70-72)CCC>CCT p.P24P LMO2_uc001mvc.2_Silent_p.P17P|LMO2_uc001mvd.2_Silent_p.P17P|LMO2_uc010rel.1_Silent_p.P24P|LMO2_uc010rem.1_Silent_p.P93P NM_001142316 NP_001135788 P25791 RBTN2_HUMAN LIM domain only 2 isoform 2 24 multicellular organismal development nucleus protein binding|zinc ion binding lung(1) 1 GCAGGGATGGGGGGATCTGCA 0.617 NA T TRD@ T-ALL 9 70 0 0 0.001368 0 0 TTC17 55761 broad.mit.edu 37 11 43411214 43411214 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:43411214G>T uc001mxi.2 + 3 276 c.262G>T c.(262-264)GCT>TCT p.A88S TTC17_uc001mxh.2_Missense_Mutation_p.A88S|TTC17_uc010rfj.1_Missense_Mutation_p.A31S NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 88 binding ovary(5) 5 ACAATTAGTTGCTCAAAAAAT 0.383 NA 28 75 2.25844e-05 2.46489e-05 0.007291 1 0 OR4A15 81328 broad.mit.edu 37 11 55136164 55136164 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:55136164G>T uc010rif.1 + 1 805 c.805G>T c.(805-807)GCA>TCA p.A269S NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 269 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTACACCTGTGCATCCCACGT 0.423 NA 69 232 1.72039e-30 3.251e-30 0.00361 1 0 OR4C6 219432 broad.mit.edu 37 11 55432926 55432926 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:55432926G>C uc001nht.3 + 3 549 c.284G>C c.(283-285)TGC>TCC p.C95S OR4C6_uc010rik.1_Missense_Mutation_p.C95S NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CTCAAAGGCTGCCTCACCCAG 0.527 NA 40 160 0 0 0.00623 0 0 OR4C6 219432 broad.mit.edu 37 11 55433526 55433526 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:55433526C>A uc001nht.3 + 3 1149 c.884C>A c.(883-885)GCC>GAC p.A295D OR4C6_uc010rik.1_Missense_Mutation_p.A295D NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GTGAAAAGTGCCATGAAGAAA 0.433 NA 20 79 2.94398e-08 3.44704e-08 0.007413 1 0 OR5D16 390144 broad.mit.edu 37 11 55607101 55607101 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:55607101T>A uc010rio.1 + 1 874 c.874T>A c.(874-876)TAC>AAC p.Y292N NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TCCCCTGATCTACAGTCTGAG 0.378 NA 27 90 0 0 0.004656 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735298 55735298 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:55735298G>A uc010rit.1 - 1 642 c.642C>T c.(640-642)TCC>TCT p.S214S NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 214 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) TCAAAATGTTGGAGATAATTT 0.393 NA 20 49 0 0 0.007413 0 0 OR8K5 219453 broad.mit.edu 37 11 55927268 55927268 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:55927268G>T uc010rja.1 - 1 526 c.526C>A c.(526-528)CAT>AAT p.H176N NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CAGTAAAAATGACTGATGACA 0.358 NA 27 98 4.87955e-14 7.01659e-14 0.005443 1 0 OR5T3 390154 broad.mit.edu 37 11 56020456 56020456 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:56020456G>C uc010rjd.1 + 1 781 c.781G>C c.(781-783)GCT>CCT p.A261P NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 261 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) GATGCATTCTGCTAAGGGAAG 0.408 NA 76 252 0 0 0.00361 0 0 OR5M1 390168 broad.mit.edu 37 11 56380871 56380871 + Silent SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:56380871T>A uc001nja.1 - 1 108 c.108A>T c.(106-108)CTA>CTT p.L36L NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CCAGTGTGATTAGGTAGATCG 0.498 NA 48 149 0 0 0.00361 0 0 OR9G4 283189 broad.mit.edu 37 11 56511222 56511222 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:56511222G>T uc010rjo.1 - 1 66 c.66C>A c.(64-66)ACC>ACA p.T22T NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CAGTCAGGATGGTGCAATTTC 0.423 NA 22 79 5.26018e-13 7.44169e-13 0.001882 1 0 OR5B12 390191 broad.mit.edu 37 11 58207543 58207543 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:58207543C>A uc010rkh.1 - 1 82 c.82G>T c.(82-84)GTC>TTC p.V28F NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAAAGGAAGACTATGAAGAGT 0.468 NA 34 88 2.47316e-13 3.53052e-13 0.003271 1 0 GLYATL2 219970 broad.mit.edu 37 11 58604550 58604550 + Silent SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:58604550T>C uc001nnd.3 - 5 545 c.414A>G c.(412-414)CCA>CCG p.P138P GLYATL2_uc009ymq.2_Silent_p.P138P NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 138 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TGTGTTTCTTTGGTAATTCCG 0.378 NA 45 158 0 0 0.009718 0 0 GLYATL2 219970 broad.mit.edu 37 11 58605833 58605833 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:58605833G>T uc001nnd.3 - 3 218 c.87C>A c.(85-87)GGC>GGA p.G29G GLYATL2_uc009ymq.2_Silent_p.G29G NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 29 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TGAAAATGGCGCCATATACCT 0.418 NA 13 41 2.27111e-07 2.59367e-07 0.001368 1 0 MS4A4A 51338 broad.mit.edu 37 11 60064675 60064675 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:60064675G>T uc001noz.2 + 3 217 c.207G>T c.(205-207)GTG>GTT p.V69V MS4A4A_uc001npa.2_Silent_p.V50V|MS4A4A_uc001npb.2_Silent_p.V50V|MS4A4A_uc001npc.2_Silent_p.V50V NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 69 Helical; (Potential). integral to membrane receptor activity 0 TTTAGGTTGTGCAGATTCTGA 0.423 NA 36 112 1.836e-18 2.91687e-18 0.003755 1 0 INTS5 80789 broad.mit.edu 37 11 62415695 62415695 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:62415695C>A uc001nud.2 - 2 1910 c.1857G>T c.(1855-1857)GAG>GAT p.E619D GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 619 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CAGCTACTTCCTCCTCAGGAT 0.617 NA 17 63 3.41278e-10 4.27547e-10 0.00499 1 0 SLC22A6 9356 broad.mit.edu 37 11 62751943 62751943 + Nonsense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:62751943G>A uc001nwk.2 - 1 527 c.220C>T c.(220-222)CAG>TAG p.Q74* SLC22A6_uc001nwl.2_Nonsense_Mutation_p.Q74*|SLC22A6_uc001nwj.2_Nonsense_Mutation_p.Q74*|SLC22A6_uc001nwm.2_Nonsense_Mutation_p.Q74* NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 74 Extracellular (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 GACTCAGGCTGCCCCTGCCTG 0.677 NA 16 41 0 0 0.007413 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64606195 64606195 + Silent SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:64606195A>G uc001obs.3 - 8 1056 c.1056T>C c.(1054-1056)TAT>TAC p.Y352Y NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 352 AGC-kinase C-terminal. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 GCTCAGGAATATAGGGGGCCG 0.617 NA 24 100 0 0 0.00333 0 0 SYT12 91683 broad.mit.edu 37 11 66812117 66812117 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:66812117C>A uc009yrl.2 + 6 1121 c.891C>A c.(889-891)GCC>GCA p.A297A SYT12_uc001oju.2_Silent_p.A297A NM_177963 NP_808878 Q8IV01 SYT12_HUMAN synaptotagmin XII 297 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ovary(1) 1 TCCCCACAGCCGAGCGCCTCA 0.662 Ovarian(65;2862 3307) NA 29 93 7.01153e-11 9.08732e-11 0.007291 1 0 PPP1CA 5499 broad.mit.edu 37 11 67168577 67168577 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:67168577G>T uc001okw.1 - 2 272 c.149C>A c.(148-150)CCC>CAC p.P50H PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.P55H|PPP1CA_uc001oku.1_Missense_Mutation_p.P61H|PPP1CA_uc001okv.1_Intron|PPP1CA_uc001okx.1_Missense_Mutation_p.P138H|PPP1CA_uc001oky.2_Missense_Mutation_p.P50H|TBC1D10C_uc001okz.2_5'Flank|TBC1D10C_uc001ola.2_5'Flank NM_002708 NP_002699 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha 50 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CAGAAGAATGGGCTGGCTCAG 0.612 NA 26 68 2.48779e-11 3.27276e-11 0.005443 1 0 KCTD14 65987 broad.mit.edu 37 11 77727720 77727720 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:77727720G>A uc001oyw.3 - 2 712 c.687C>T c.(685-687)TTC>TTT p.F229F NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 229 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) AGAACTTGGAGAATACCTTGT 0.493 NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748) NA 30 114 0 0 0.008361 0 0 ODZ4 26011 broad.mit.edu 37 11 78369779 78369779 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:78369779G>A uc001ozl.3 - 34 8097 c.7634C>T c.(7633-7635)TCC>TTC p.S2545F ODZ4_uc001ozk.3_Missense_Mutation_p.S770F|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2545 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GGTGATTGTGGAGCCATAGAG 0.537 NA 37 85 0 0 0.004289 0 0 ODZ4 26011 broad.mit.edu 37 11 78380866 78380866 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:78380866C>A uc001ozl.3 - 32 6987 c.6524G>T c.(6523-6525)CGA>CTA p.R2175L ODZ4_uc001ozk.3_Missense_Mutation_p.R400L|ODZ4_uc009yvb.1_Missense_Mutation_p.R759L NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2175 YD 17.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CTTCACTACTCGCCCCATGTT 0.498 NA 15 46 1.15088e-07 1.32393e-07 0.004007 1 0 C11orf82 220042 broad.mit.edu 37 11 82645123 82645123 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:82645123G>T uc001ozt.2 + 6 2987 c.2743G>T c.(2743-2745)GGT>TGT p.G915C C11orf82_uc010rsr.1_Missense_Mutation_p.G614C|C11orf82_uc010rss.1_Missense_Mutation_p.G614C|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 915 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 AACCAATAAAGGTTTAATTAA 0.343 NA 18 57 2.35188e-11 3.10433e-11 0.006122 1 0 FAT3 120114 broad.mit.edu 37 11 92620173 92620173 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:92620173G>A uc001pdj.3 + 24 12962 c.12945G>A c.(12943-12945)GGG>GGA p.G4315G FAT3_uc001pdi.3_Silent_p.G755G NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4315 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAGACAAAGGGGTTGATGACC 0.493 NA TCGA Ovarian(4;0.039) 8 14 0 0 0.00308 0 0 GPR83 10888 broad.mit.edu 37 11 94134234 94134234 + Silent SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:94134234G>C uc001pet.2 - 1 352 c.180C>G c.(178-180)CGC>CGG p.R60R NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 60 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAGCGCCGTAGCGCCTCCTGC 0.582 NA 21 60 0 0 0.010504 0 0 CNTN5 53942 broad.mit.edu 37 11 99941253 99941253 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:99941253G>T uc001pga.2 + 11 1599 c.1260G>T c.(1258-1260)ACG>ACT p.T420T CNTN5_uc009ywv.1_Silent_p.T420T|CNTN5_uc001pfz.2_Silent_p.T420T|CNTN5_uc001pgb.2_Silent_p.T346T NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 420 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCAGACCCACGTATCGTTGGC 0.478 NA 11 42 3.07112e-06 3.42297e-06 0.000978 1 0 CNTN5 53942 broad.mit.edu 37 11 99945012 99945012 + Silent SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:99945012T>C uc001pga.2 + 13 1905 c.1566T>C c.(1564-1566)GTT>GTC p.V522V CNTN5_uc009ywv.1_Silent_p.V522V|CNTN5_uc001pfz.2_Silent_p.V522V|CNTN5_uc001pgb.2_Silent_p.V448V NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 522 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACAGAGCAGTTAGAGAAAACA 0.363 NA 4 16 0 0 0.000602 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103128358 103128358 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:103128358C>T uc001pho.2 + 69 10627 c.10483C>T c.(10483-10485)CTG>TTG p.L3495L DYNC2H1_uc001phn.1_Silent_p.L3502L|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3495 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CTATCTCCCCCTGGCTGAGAG 0.423 NA 12 68 0 0 0.001855 0 0 DDI1 414301 broad.mit.edu 37 11 103908255 103908255 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:103908255C>A uc001phr.2 + 1 948 c.705C>A c.(703-705)CCC>CCA p.P235P PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 235 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) AAGAGGCCCCCGAGAGTTTTG 0.478 NA 49 180 4.10826e-27 7.44209e-27 0.00361 1 0 NCAM1 4684 broad.mit.edu 37 11 113102898 113102898 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:113102898C>A uc009yyq.1 + 12 1665 c.971C>A c.(970-972)CCA>CAA p.P324Q NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 416 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCAGATGCCCCAAAGCTACAG 0.522 NA 11 44 0.000151284 0.000161534 0.001855 1 0 RNF26 79102 broad.mit.edu 37 11 119207086 119207086 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:119207086C>T uc001pwh.2 + 1 1850 c.1254C>T c.(1252-1254)TGC>TGT p.C418C NM_032015 NP_114404 Q9BY78 RNF26_HUMAN ring finger protein 26 418 RING-type. zinc ion binding ovary(1) 1 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) ACCGCAATTGCCCGCTCTGCC 0.642 NA 33 130 0 0 0.003755 0 0 TRIM29 23650 broad.mit.edu 37 11 119996441 119996441 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:119996441C>A uc001pwz.2 - 4 1415 c.1291G>T c.(1291-1293)GAC>TAC p.D431Y TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.D170Y|TRIM29_uc010rzj.1_Missense_Mutation_p.D164Y|TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 431 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CGGCTCAGGTCCGCCTTGCAC 0.562 NA 21 81 1.55795e-14 2.26924e-14 0.001882 1 0 OR8D4 338662 broad.mit.edu 37 11 123777159 123777159 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:123777159C>T uc010saa.1 + 1 21 c.21C>T c.(19-21)TCC>TCT p.S7S NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AAAACCATTCCACAGTGACTG 0.388 NA 27 94 0 0 0.004656 0 0 OR4D5 219875 broad.mit.edu 37 11 123811224 123811224 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:123811224C>T uc001pzk.1 + 1 901 c.901C>T c.(901-903)CTG>TTG p.L301L NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CATGAAGAAGCTGTGGAGGAG 0.493 NA 31 150 0 0 0.002096 0 0 OR10S1 219873 broad.mit.edu 37 11 123848164 123848164 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:123848164G>A uc001pzm.1 - 1 235 c.235C>T c.(235-237)CTC>TTC p.L79F NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 79 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 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) AGGAAGGAGAGGTGCCCCAGG 0.557 NA 15 53 0 0 0.00245 0 0 OR10G8 219869 broad.mit.edu 37 11 123900722 123900722 + Nonsense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:123900722C>A uc001pzp.1 + 1 393 c.393C>A c.(391-393)TAC>TAA p.Y131* NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 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) CGCTCAGGTACACCAGCATGA 0.542 NA 58 205 1.46156e-29 2.71629e-29 0.00361 1 0 PANX3 116337 broad.mit.edu 37 11 124489566 124489566 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:124489566A>G uc001qah.2 + 4 914 c.914A>G c.(913-915)TAT>TGT p.Y305C NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 305 Cytoplasmic (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TTATCTGTCTATGAGATGCTC 0.443 NA 40 136 0 0 0.00874 0 0 ROBO4 54538 broad.mit.edu 37 11 124754957 124754957 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:124754957C>T uc001qbg.2 - 17 3121 c.2981G>A c.(2980-2982)TGT>TAT p.C994Y ROBO4_uc010sas.1_Missense_Mutation_p.C849Y NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 994 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGGCATACGACAGTGGAGCTG 0.587 NA 34 126 0 0 0.004289 0 0 PKNOX2 63876 broad.mit.edu 37 11 125301253 125301253 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:125301253G>T uc001qbu.2 + 13 1698 c.1384G>T c.(1384-1386)GAC>TAC p.D462Y PKNOX2_uc010saz.1_Missense_Mutation_p.D433Y|PKNOX2_uc010sba.1_Missense_Mutation_p.D433Y|PKNOX2_uc010sbb.1_Missense_Mutation_p.D398Y|PKNOX2_uc001qbv.2_Missense_Mutation_p.D227Y NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 462 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AAATGTCAGCGACCTGGGCTT 0.423 NA 15 53 6.31663e-08 7.34145e-08 0.003163 1 0 STT3A 3703 broad.mit.edu 37 11 125482978 125482978 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:125482978C>G uc001qcd.2 + 13 1570 c.1460C>G c.(1459-1461)TCC>TGC p.S487C STT3A_uc001qce.2_Missense_Mutation_p.S487C|STT3A_uc010sbg.1_Missense_Mutation_p.S395C|STT3A_uc009zbn.2_Missense_Mutation_p.S209C NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 487 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TCTTCTCCGTCCATTGTACTA 0.473 NA 60 226 0 0 0.00361 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1969334 1969334 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:1969334C>G uc001qjp.2 - 19 2148 c.1917G>C c.(1915-1917)ACG>ACC p.T639T CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.T503T NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 639 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CGCTGATGTCCGTGAAGAAGT 0.502 Colon(2;101 179 21030 23310 28141) NA 9 14 0 0 0.001368 0 0 CD163L1 283316 broad.mit.edu 37 12 7559189 7559189 + Silent SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:7559189T>C uc001qsy.2 - 5 1052 c.1026A>G c.(1024-1026)AGA>AGG p.R342R CD163L1_uc010sge.1_Silent_p.R352R NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 342 SRCR 3.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TTCCGGAATGTCTGCAGTCCC 0.433 NA 23 93 0 0 0.001882 0 0 SLC2A3 6515 broad.mit.edu 37 12 8075422 8075422 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:8075422C>A uc001qtr.2 - 9 1529 c.1267G>T c.(1267-1269)GCT>TCT p.A423S NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 423 Extracellular (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) CTTACAGCAGCGGAGGGGAAG 0.483 Colon(96;424 1461 14416 20933 23688) NA 23 63 6.44725e-10 7.9881e-10 0.002299 1 0 A2M 2 broad.mit.edu 37 12 9225296 9225296 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:9225296C>A uc001qvk.1 - 30 4041 c.3928G>T c.(3928-3930)GGG>TGG p.G1310W A2M_uc001qvj.1_Missense_Mutation_p.G352W|A2M_uc009zgk.1_Missense_Mutation_p.G1160W NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1310 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CTGTATTCCCCAGGCAGCTCT 0.517 NA 51 154 2.23044e-30 4.20475e-30 0.00361 1 0 PZP 5858 broad.mit.edu 37 12 9302192 9302192 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:9302192G>T uc001qvl.2 - 35 4420 c.4391C>A c.(4390-4392)TCT>TAT p.S1464Y PZP_uc009zgl.2_Missense_Mutation_p.S1250Y NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AGCAACCACAGACTCATCTGA 0.463 Melanoma(125;1402 1695 4685 34487 38571) NA 30 70 1.06801e-11 1.43372e-11 0.009535 1 0 MANSC1 54682 broad.mit.edu 37 12 12491436 12491436 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:12491436G>A uc001rai.1 - 3 540 c.282C>T c.(280-282)AAC>AAT p.N94N MANSC1_uc010shm.1_Silent_p.N28N|MANSC1_uc001raj.1_Silent_p.N60N|MANSC1_uc009zht.1_Silent_p.N13N NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 94 MANSC.|Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) ATAGGTAGCAGTTGGGTTGTC 0.393 NA 34 88 0 0 0.002836 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18499667 18499667 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:18499667G>T uc001rdt.2 + 11 1638 c.1522G>T c.(1522-1524)GTA>TTA p.V508L PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.V508L|PIK3C2G_uc010sic.1_Missense_Mutation_p.V286L NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 508 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TTTTCAGCCTGTAAATGTACC 0.438 NA 29 74 1.80694e-10 2.29657e-10 0.009535 1 0 PDE3A 5139 broad.mit.edu 37 12 20801732 20801733 + Nonsense_Mutation DNP GG GG TT TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:20801732_20801733GG>TT uc001reh.1 + 13 2698_2699 c.2676_2677GG>TT c.(2674-2679)GTGGAA>GTTTAA p.E893* NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 893 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTGACCATGTGGAATTTAAGCA 0.401 NA 35 103 0 0 0.004672 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355423 21355423 + Splice_Site SNP A A C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:21355423A>C uc001req.3 + 10 1240 c.1136_splice c.e10-2 p.G379_splice NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTTTTTTTCTAGGAGTCATAA 0.269 NA 13 25 0 0 0.001368 0 0 CASC1 55259 broad.mit.edu 37 12 25261485 25261485 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:25261485G>T uc001rgl.2 - 15 2230 c.2148C>A c.(2146-2148)TCC>TCA p.S716S CASC1_uc001rgk.2_Silent_p.S722S|CASC1_uc001rgm.3_3'UTR|CASC1_uc001rgj.2_Silent_p.S676S|CASC1_uc010sje.1_Silent_p.S657S|CASC1_uc010sjf.1_3'UTR NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 716 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) GTGGAGGTTAGGAGTAGCTGA 0.418 NA 12 25 4.36969e-10 5.43968e-10 0.001855 1 0 CNTN1 1272 broad.mit.edu 37 12 41422935 41422935 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:41422935C>G uc001rmm.1 + 23 3007 c.2894C>G c.(2893-2895)CCA>CGA p.P965R CNTN1_uc001rmn.1_Missense_Mutation_p.P954R NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 965 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATAGAAGTCCCAATCCCCAGA 0.448 NA 70 147 0 0 0.00361 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43925996 43925996 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:43925996C>A uc010skx.1 - 3 456 c.456G>T c.(454-456)ACG>ACT p.T152T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 152 T -> V (in Ref. 2; CAD56159/CAD56160). 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) TAAATGTTCCCGTCTGAAAAT 0.353 NA 24 69 5.61819e-17 8.64674e-17 0.005443 1 0 WNT1 7471 broad.mit.edu 37 12 49374219 49374219 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:49374219C>A uc001rsu.2 + 3 569 c.371C>A c.(370-372)ACG>AAG p.T124K NM_005430 NP_005421 P04628 WNT1_HUMAN wingless-type MMTV integration site family, 124 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.244) TGTCGAGAAACGGCGTTTATC 0.617 NA 15 32 1.5739e-10 2.01992e-10 0.004007 1 0 MLL2 8085 broad.mit.edu 37 12 49432243 49432243 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:49432243G>A uc001rta.3 - 34 8896 c.8896C>T c.(8896-8898)CGG>TGG p.R2966W NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2966 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GACGGGGGCCGGTTGACCAGC 0.602 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 52 90 0 0 0.00361 0 0 KCNH3 23416 broad.mit.edu 37 12 49949578 49949578 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:49949578G>A uc001ruh.1 + 12 2572 c.2312G>A c.(2311-2313)CGT>CAT p.R771H KCNH3_uc010smj.1_Missense_Mutation_p.R711H NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 771 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 CTATCCCCACGTCGAACAGCA 0.697 NA 19 26 0 0 0.00278 0 0 FMNL3 91010 broad.mit.edu 37 12 50045837 50045837 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:50045837C>G uc001ruv.1 - 14 1716 c.1482G>C c.(1480-1482)CTG>CTC p.L494L FMNL3_uc001ruw.1_Silent_p.L443L|FMNL3_uc001rut.1_Silent_p.L60L|FMNL3_uc001ruu.1_Silent_p.L344L NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 494 actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 TGCCCTCACTCAGCTCTGCAG 0.652 NA 10 18 0 0 0.008291 0 0 ACCN2 41 broad.mit.edu 37 12 50472204 50472204 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:50472204C>A uc001rvw.2 + 6 1067 c.838C>A c.(838-840)CTC>ATC p.L280I ACCN2_uc001rvv.2_Missense_Mutation_p.L280I|ACCN2_uc009zln.2_Missense_Mutation_p.L71I|ACCN2_uc009zlo.2_Missense_Mutation_p.L280I NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 280 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) CTCCCAGCAGCTCATCTACCT 0.582 NA 55 92 1.39843e-22 2.37492e-22 0.00361 1 0 SLC4A8 9498 broad.mit.edu 37 12 51879644 51879644 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:51879644G>C uc001rys.1 + 17 2424 c.2246G>C c.(2245-2247)GGA>GCA p.G749A SLC4A8_uc001rym.2_Missense_Mutation_p.G696A|SLC4A8_uc001ryn.2_Missense_Mutation_p.G696A|SLC4A8_uc001ryo.2_Missense_Mutation_p.G696A|SLC4A8_uc010snj.1_Missense_Mutation_p.G776A|SLC4A8_uc001ryr.2_Missense_Mutation_p.G749A NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 749 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) TTTTTGATTGGAGTCCCATCA 0.418 NA 47 79 0 0 0.00361 0 0 HOXC6 3223 broad.mit.edu 37 12 54423739 54423739 + Missense_Mutation SNP A A C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:54423739A>C uc001sev.2 + 2 813 c.701A>C c.(700-702)AAA>ACA p.K234T HOXC6_uc001ses.2_Missense_Mutation_p.K152T|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron NM_004503 NP_004494 P09630 HXC6_HUMAN homeobox C6 isoform 1 234 Glu/Lys-rich. regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|upper_aerodigestive_tract(1) 3 GAGAAGCAGAAAGAGTGACCA 0.582 NA 6 12 0 0 0.001984 0 0 SLC16A7 9194 broad.mit.edu 37 12 60098636 60098636 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:60098636G>C uc001sqs.2 + 3 353 c.54G>C c.(52-54)TGG>TGC p.W18C SLC16A7_uc001sqt.2_Missense_Mutation_p.W18C|SLC16A7_uc001squ.2_Missense_Mutation_p.W18C|SLC16A7_uc009zqi.2_5'UTR|SLC16A7_uc010ssi.1_5'UTR NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 18 Helical; (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) ATGGAGGATGGGGTTGGATTG 0.433 NA 27 43 0 0 0.004656 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72027129 72027129 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:72027129T>C uc001swo.2 - 13 2959 c.2600A>G c.(2599-2601)AAG>AGG p.K867R NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 867 Potential. RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TTTTGTAATCTTTGCTTCAGC 0.289 NA 10 21 0 0 0.006214 0 0 CAPS2 84698 broad.mit.edu 37 12 75678809 75678809 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:75678809C>A uc001sxk.3 - 16 1701 c.1504G>T c.(1504-1506)GAT>TAT p.D502Y CAPS2_uc001sxm.3_Missense_Mutation_p.D270Y|CAPS2_uc009zsa.2_Missense_Mutation_p.D92Y|CAPS2_uc001sxi.3_Missense_Mutation_p.D238Y|CAPS2_uc001sxj.3_Missense_Mutation_p.D413Y|CAPS2_uc001sxl.3_Missense_Mutation_p.D483Y NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 502 EF-hand 2.|2 (Potential). calcium ion binding ovary(2) 2 TCTCCATAATCAACCTTGCCA 0.323 NA 34 38 2.68265e-12 3.70865e-12 0.002836 1 0 PPFIA2 8499 broad.mit.edu 37 12 81676789 81676789 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:81676789C>A uc001szo.1 - 26 3179 c.3018G>T c.(3016-3018)CAG>CAT p.Q1006H PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_Intron|PPFIA2_uc009zsh.2_Intron NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(3)|lung(2)|pancreas(1) 6 AATCTCCTACCTGGGCCCAGC 0.318 NA 8 17 1.58986e-06 1.77956e-06 0.008291 1 0 C12orf12 196477 broad.mit.edu 37 12 91347339 91347339 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:91347339G>A uc001tbj.2 - 1 1615 c.1181C>T c.(1180-1182)CCA>CTA p.P394L NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 394 central_nervous_system(1)|pancreas(1) 2 GGATTCCTGTGGCACTTTGGG 0.408 NA 58 68 0 0 0.00361 0 0 CKAP4 10970 broad.mit.edu 37 12 106633401 106633401 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:106633401G>C uc001tlk.2 - 2 1294 c.1210C>G c.(1210-1212)CAA>GAA p.Q404E NM_006825 NP_006816 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 404 Potential. ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction 0 TGACTCTTTTGCTGGAGTGCC 0.632 NA 53 83 0 0 0.00361 0 0 BTBD11 121551 broad.mit.edu 37 12 108042981 108042981 + Splice_Site SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:108042981A>T uc001tmk.1 + 15 3444 c.2923_splice c.e15-2 p.L975_splice BTBD11_uc001tmj.2_Splice_Site_p.L975_splice|BTBD11_uc001tml.1_Splice_Site_p.L512_splice|BTBD11_uc001tmm.1_Splice_Site_p.L54_splice NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a integral to membrane DNA binding skin(2)|ovary(1) 3 GTTTTCTTCCAGCTGGTTATG 0.443 NA 57 59 0 0 0.00361 0 0 TRPV4 59341 broad.mit.edu 37 12 110232179 110232179 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:110232179C>A uc001tpj.1 - 7 1541 c.1446G>T c.(1444-1446)ATG>ATT p.M482I TRPV4_uc001tpg.1_Missense_Mutation_p.M448I|TRPV4_uc001tph.1_Missense_Mutation_p.M435I|TRPV4_uc001tpi.1_Missense_Mutation_p.M375I|TRPV4_uc001tpk.1_Missense_Mutation_p.M482I|TRPV4_uc001tpl.1_Missense_Mutation_p.M422I NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 482 Helical; (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TGAAGATGACCATGGCACACA 0.632 NA 47 68 5.48756e-27 9.89519e-27 0.002852 1 0 ALDH2 217 broad.mit.edu 37 12 112235926 112235926 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:112235926G>T uc001tst.2 + 10 1569 c.1128G>T c.(1126-1128)ACG>ACT p.T376T ALDH2_uc010syi.1_Silent_p.T329T|ALDH2_uc009zvy.2_Silent_p.T300T NM_000690 NP_000681 P05091 ALDH2_HUMAN mitochondrial aldehyde dehydrogenase 2 376 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity skin(2)|ovary(1)|central_nervous_system(1) 4 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) ACATCAACACGGGGAAGCAAG 0.542 NA T HMGA2 leiomyoma 24 51 5.45024e-15 8.07291e-15 0.00333 1 0 DTX1 1840 broad.mit.edu 37 12 113515246 113515246 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:113515246C>A uc001tuk.1 + 2 613 c.277C>A c.(277-279)CGG>AGG p.R93R NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 93 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GCGGCCCGTGCGGCGCAACTT 0.682 NA 24 37 4.26978e-12 5.81103e-12 0.00333 1 0 KDM2B 84678 broad.mit.edu 37 12 121882033 121882033 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:121882033C>A uc001uat.2 - 16 2337 c.2233G>T c.(2233-2235)GGC>TGC p.G745C KDM2B_uc001uaq.2_Missense_Mutation_p.G185C|KDM2B_uc010szy.1_Missense_Mutation_p.G185C|KDM2B_uc001uar.2_Missense_Mutation_p.G336C|KDM2B_uc001uas.2_Missense_Mutation_p.G714C|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'UTR|KDM2B_uc010szx.1_5'UTR|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 745 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 AGCAGGGAGCCGGGCAGGTTG 0.572 NA OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 68 77 3.30712e-30 6.21959e-30 0.00361 1 0 ABCB9 23457 broad.mit.edu 37 12 123434340 123434340 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:123434340C>A uc001udm.3 - 4 1152 c.842G>T c.(841-843)CGC>CTC p.R281L ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.R281L|ABCB9_uc010taj.1_Missense_Mutation_p.R281L|ABCB9_uc001udp.2_Missense_Mutation_p.R281L|ABCB9_uc001udq.2_Missense_Mutation_p.R63L|ABCB9_uc001udr.2_Missense_Mutation_p.R281L NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 281 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CCAACCTGTGCGGTTCTCATC 0.567 Ovarian(49;786 1333 9175 38236) NA 53 78 2.13883e-14 3.10386e-14 0.00361 1 0 DNAH10 196385 broad.mit.edu 37 12 124364246 124364246 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:124364246G>A uc001uft.3 + 49 8203 c.8178G>A c.(8176-8178)AGG>AGA p.R2726R NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2726 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGGTGATGAGGGATCCCATAT 0.493 NA 109 184 0 0 0.00361 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563130 129563130 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr12:129563130C>A uc009zyl.1 - 8 2392 c.2064G>T c.(2062-2064)AGG>AGT p.R688S TMEM132D_uc001uia.2_Missense_Mutation_p.R226S NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 688 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CAAAGATGGCCCTGTTGCTTC 0.582 NA 56 82 4.17463e-26 7.45943e-26 0.00361 1 0 FAM123A 219287 broad.mit.edu 37 13 25744474 25744474 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:25744474C>A uc001uqb.2 - 1 1384 c.1284G>T c.(1282-1284)CCG>CCT p.P428P FAM123A_uc001uqa.2_Silent_p.P309P|FAM123A_uc001uqc.2_Silent_p.P309P NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 428 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CCACCTCGTCCGGGCTGGCCA 0.652 NA 12 46 2.27111e-07 2.59367e-07 0.001368 1 0 ATP8A2 51761 broad.mit.edu 37 13 26043257 26043257 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:26043257C>A uc001uqk.2 + 2 361 c.219C>A c.(217-219)ATC>ATA p.I73I ATP8A2_uc010tdi.1_Silent_p.I33I|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Silent_p.I33I NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 33 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACAACCAGATCAGGTAGGAGA 0.667 NA 9 27 2.74318e-10 3.4586e-10 0.006214 1 0 RCBTB2 1102 broad.mit.edu 37 13 49076887 49076887 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:49076887C>A uc001vch.2 - 11 1461 c.1090G>T c.(1090-1092)GCC>TCC p.A364S RCBTB2_uc010tgg.1_Missense_Mutation_p.A369S|RCBTB2_uc001vci.2_Missense_Mutation_p.A340S|RCBTB2_uc010tgh.1_Missense_Mutation_p.A90S|RCBTB2_uc001vcj.2_Missense_Mutation_p.A316S|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_3'UTR NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 364 RCC1 6. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CACGTGACGGCGGGCGTGGCA 0.592 NA 35 53 2.42023e-17 3.76906e-17 0.003271 1 0 LOC220429 220429 broad.mit.edu 37 13 50466697 50466697 + Silent SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:50466697A>G uc001vdk.2 + 1 2153 c.1971A>G c.(1969-1971)GAA>GAG p.E657E NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 TGCATTCAGAAATGGAATTCA 0.403 NA 54 118 0 0 0.00361 0 0 VPS36 51028 broad.mit.edu 37 13 53024666 53024666 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:53024666G>A uc001vgs.2 - 1 98 c.64C>T c.(64-66)CGC>TGC p.R22C VPS36_uc001vgq.2_5'Flank NM_016075 NP_057159 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 22 GLUE N-terminal. cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding skin(1) 1 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) CGCACCCCGCGCTGCTGGATC 0.662 NA 19 17 0 0 0.001882 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217055 53217055 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:53217055G>T uc001vgx.1 + 7 1501 c.428G>T c.(427-429)GGC>GTC p.G143V HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.G143V|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.G143V NM_001011724 NP_001011724 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 143 Globular B domain.|RRM 2. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding 0 CGAGGCAGTGGCAAGAAAAGG 0.408 NA 17 57 1.99824e-07 2.29201e-07 0.00499 1 0 PCDH20 64881 broad.mit.edu 37 13 61987564 61987564 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:61987564G>T uc001vid.3 - 2 1032 c.668C>A c.(667-669)CCT>CAT p.P223H PCDH20_uc010thj.1_Missense_Mutation_p.P223H NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 196 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGTGTTTACAGGTGCATTTTC 0.517 NA 58 148 1.54043e-34 2.97515e-34 0.00361 1 0 SLITRK5 26050 broad.mit.edu 37 13 88329238 88329238 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:88329238G>T uc001vln.2 + 2 1814 c.1595G>T c.(1594-1596)AGG>ATG p.R532M SLITRK5_uc010tic.1_Missense_Mutation_p.R291M NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 532 Extracellular (Potential).|LRR 12. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACCCTCCTCAGGCTAAACCTG 0.527 NA 48 74 6.21074e-16 9.35768e-16 0.002852 1 0 DOCK9 23348 broad.mit.edu 37 13 99520213 99520213 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:99520213T>C uc001vnt.2 - 29 3201 c.3146A>G c.(3145-3147)TAC>TGC p.Y1049C DOCK9_uc001vnw.2_Missense_Mutation_p.Y1048C|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.Y1049C|DOCK9_uc010tis.1_Missense_Mutation_p.Y1048C|DOCK9_uc010tit.1_Missense_Mutation_p.Y1049C|DOCK9_uc010tiq.1_Missense_Mutation_p.Y13C|DOCK9_uc010afu.1_Missense_Mutation_p.Y895C NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1049 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACAGCTAATGTAGTTGTTGAT 0.428 NA 13 14 0 0 0.001855 0 0 FGF14 2259 broad.mit.edu 37 13 102378993 102378993 + Silent SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:102378993T>G uc001vpe.2 - 4 576 c.576A>C c.(574-576)CCA>CCC p.P192P FGF14_uc001vpf.2_Silent_p.P197P NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 192 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AATGAGCTGCTGGTTTGGTTT 0.363 NA 27 44 0 0 0.003954 0 0 COL4A1 1282 broad.mit.edu 37 13 110863998 110863998 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr13:110863998A>T uc001vqw.3 - 8 586 c.464T>A c.(463-465)ATG>AAG p.M155K COL4A1_uc010agl.2_Missense_Mutation_p.M155K NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 155 angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) ATGTACCTTCATCCCTGGTAA 0.313 NA 14 36 0 0 0.00245 0 0 OR4K14 122740 broad.mit.edu 37 14 20483031 20483031 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:20483031T>C uc010tky.1 - 1 322 c.322A>G c.(322-324)ACT>GCT p.T108A NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GCCCCACCAGTAAAGTGCAAG 0.463 NA 17 75 0 0 0.006122 0 0 OR6S1 341799 broad.mit.edu 37 14 21108972 21108972 + Silent SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:21108972A>G uc001vxv.1 - 1 879 c.879T>C c.(877-879)TAT>TAC p.Y293Y NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 293 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TACGTAAGGCATAGATGAATG 0.438 NA 60 188 0 0 0.00361 0 0 MYH6 4624 broad.mit.edu 37 14 23866764 23866764 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:23866764C>A uc001wjv.2 - 16 2017 c.1950G>T c.(1948-1950)TCG>TCT p.S650S NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 650 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTGGAGAGCCGACACCGTCT 0.507 NA 39 142 2.58029e-29 4.78415e-29 0.009718 1 0 MYH7 4625 broad.mit.edu 37 14 23886822 23886823 + Nonsense_Mutation DNP CC CC AA TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:23886822_23886823CC>AA uc001wjx.2 - 31 4348_4349 c.4242_4243GG>TT c.(4240-4245)CTGGAG>CTTTAG p.E1415* NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1415 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTGGTCTTCTCCAGCGAGGAGC 0.609 NA 26 109 0 0 0.004672 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560197 32560198 + Missense_Mutation DNP CG CG TC TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:32560197_32560198CG>TC uc001wrl.2 + 2 561_562 c.322_323CG>TC c.(322-324)CGG>TCG p.R108S ARHGAP5_uc001wrm.2_Missense_Mutation_p.R108S|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R108S|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 108 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CTTGCCTCATCGGAGTACGAAT 0.381 NSCLC(9;77 350 3443 29227 41353) NA 37 131 0 0 0.004672 0 0 AKAP6 9472 broad.mit.edu 37 14 33205041 33205041 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:33205041G>T uc001wrq.2 + 11 3495 c.3325G>T c.(3325-3327)GAA>TAA p.E1109* NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1109 Spectrin 2. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCTGAGACAAGAAAAGGAAGG 0.373 Melanoma(49;821 1200 7288 13647 42351) NA 18 82 1.99824e-07 2.29201e-07 0.00499 1 0 SEC23A 10484 broad.mit.edu 37 14 39556195 39556195 + Silent SNP A A C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:39556195A>C uc001wup.1 - 6 844 c.621T>G c.(619-621)TCT>TCG p.S207S SEC23A_uc010tqa.1_Silent_p.S69S|SEC23A_uc010tqb.1_Silent_p.S178S|SEC23A_uc010tqc.1_Silent_p.S69S NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 207 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) GTGGTACTTTAGAGAGCCCCA 0.303 NA 32 70 0 0 0.002836 0 0 GPR135 64582 broad.mit.edu 37 14 59930621 59930621 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:59930621T>A uc010apj.2 - 1 1439 c.1324A>T c.(1324-1326)AAC>TAC p.N442Y GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 442 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) GACATCCTGTTGCAGGCCCCC 0.632 NA 10 24 0 0 0.001855 0 0 JKAMP 51528 broad.mit.edu 37 14 59970757 59970757 + Silent SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:59970757A>T uc001xei.3 + 7 1447 c.945A>T c.(943-945)TCA>TCT p.S315S JKAMP_uc001xef.3_Silent_p.S301S|JKAMP_uc001xeh.3_Silent_p.S295S|JKAMP_uc001xeg.3_Silent_p.S309S|JKAMP_uc010try.1_Silent_p.S238S|JKAMP_uc001xej.3_Silent_p.S238S NM_001098625 NP_001092095 Q9P055 JKAMP_HUMAN JNK1-associated membrane protein isoform 2 316 Cytoplasmic (Potential). ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1) 1 CCGAACCTTCAAGGATACTCT 0.398 NA 7 55 0 0 0.001984 0 0 SYNE2 23224 broad.mit.edu 37 14 64483301 64483301 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:64483301G>T uc001xgm.2 + 33 5069 c.4839G>T c.(4837-4839)GAG>GAT p.E1613D SYNE2_uc001xgl.2_Missense_Mutation_p.E1613D NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1613 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTTTTGAAGAGCCCCCTTTTG 0.284 NA 8 25 5.18039e-06 5.7495e-06 0.00308 1 0 SPTB 6710 broad.mit.edu 37 14 65253520 65253520 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:65253520C>A uc001xht.2 - 15 3217 c.3163G>T c.(3163-3165)GAC>TAC p.D1055Y SPTB_uc001xhr.2_Missense_Mutation_p.D1055Y|SPTB_uc001xhs.2_Missense_Mutation_p.D1055Y|SPTB_uc001xhu.2_Missense_Mutation_p.D1055Y NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1055 Spectrin 8. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCCAGCAAGTCCTCCTGGCCC 0.607 NA 23 124 1.22574e-08 1.46124e-08 0.002299 1 0 SLC8A3 6547 broad.mit.edu 37 14 70515594 70515594 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:70515594C>G uc001xly.2 - 7 3051 c.2297G>C c.(2296-2298)GGC>GCC p.G766A SLC8A3_uc001xlu.2_Missense_Mutation_p.G123A|SLC8A3_uc001xlv.2_Missense_Mutation_p.G137A|SLC8A3_uc001xlw.2_Missense_Mutation_p.G763A|SLC8A3_uc001xlx.2_Missense_Mutation_p.G764A|SLC8A3_uc001xlz.2_Missense_Mutation_p.G760A|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.G123A NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 766 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GGTGAGCATGCCAATGATGAG 0.572 NA 7 35 0 0 0.00308 0 0 LTBP2 4053 broad.mit.edu 37 14 74969481 74969481 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:74969481G>T uc001xqa.2 - 34 5432 c.5045C>A c.(5044-5046)CCC>CAC p.P1682H NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1682 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGTGTCCTCGGGGCCCAGGTA 0.632 NA 35 140 1.45844e-13 2.08575e-13 0.002836 1 0 KCNK10 54207 broad.mit.edu 37 14 88658607 88658607 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:88658607C>A uc001xwo.2 - 5 1271 c.814G>T c.(814-816)GTC>TTC p.V272F KCNK10_uc001xwm.2_Missense_Mutation_p.V277F|KCNK10_uc001xwn.2_Missense_Mutation_p.V277F NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 272 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 GTCAGAGTGACCACCACAAAG 0.542 NA 30 133 1.74807e-11 2.31899e-11 0.002096 1 0 SERPINA4 5267 broad.mit.edu 37 14 95030031 95030031 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:95030031C>A uc001ydk.2 + 2 278 c.212C>A c.(211-213)CCG>CAG p.P71Q SERPINA4_uc010avd.2_Missense_Mutation_p.P108Q|SERPINA4_uc001ydl.2_Missense_Mutation_p.P71Q NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 71 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) TCGGAGACCCCGGGGAAGAAC 0.607 NA 52 102 9.57592e-29 1.75893e-28 0.00361 1 0 HHIPL1 84439 broad.mit.edu 37 14 100118631 100118631 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:100118631G>T uc010avs.2 + 2 391 c.326G>T c.(325-327)GGG>GTG p.G109V HHIPL1_uc001ygl.1_Missense_Mutation_p.G109V NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 109 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) ACGGTGCCCGGGCTCTGCCAG 0.612 NA 31 81 3.80469e-20 6.20724e-20 0.009535 1 0 C15orf2 23742 broad.mit.edu 37 15 24922547 24922547 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:24922547C>A uc001ywo.2 + 1 2007 c.1533C>A c.(1531-1533)GTC>GTA p.V511V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 511 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGCCTCCCGTCACAAGGGAGT 0.537 NA 113 284 1.30845e-55 2.69206e-55 0.00361 1 0 RYR3 6263 broad.mit.edu 37 15 33872331 33872331 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:33872331C>G uc001zhi.2 + 13 1493 c.1423C>G c.(1423-1425)CTT>GTT p.L475V RYR3_uc010bar.2_Missense_Mutation_p.L475V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 475 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGACAAAATCTTTTCAAGGA 0.443 NA 14 15 0 0 0.001855 0 0 SEMA6D 80031 broad.mit.edu 37 15 48057248 48057248 + Missense_Mutation SNP T T G rs147987261 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:48057248T>G uc010bek.2 + 13 1782 c.1422T>G c.(1420-1422)CAT>CAG p.H474Q SEMA6D_uc001zvw.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zvx.1_Missense_Mutation_p.H474Q|SEMA6D_uc001zvy.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zvz.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwa.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwb.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwc.2_Missense_Mutation_p.H474Q NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 474 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CCTACAACCATGCAAAGTAGG 0.423 NA 17 56 0 0 0.006122 0 0 UNC13C 440279 broad.mit.edu 37 15 54586108 54586108 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:54586108C>A uc002ack.2 + 9 3834 c.3834C>A c.(3832-3834)TCC>TCA p.S1278S UNC13C_uc002acl.2_Silent_p.S108S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1278 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTCATAACTCCACAGATCGAA 0.323 NA 27 46 4.72057e-08 5.50268e-08 0.003954 1 0 VPS13C 54832 broad.mit.edu 37 15 62304305 62304305 + Splice_Site SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:62304305C>A uc002agz.2 - 12 957 c.883_splice c.e12+1 p.I295_splice VPS13C_uc002aha.2_Splice_Site_p.I252_splice|VPS13C_uc002ahb.1_Splice_Site_p.I295_splice|VPS13C_uc002ahc.1_Splice_Site_p.I252_splice NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A protein localization ovary(2) 2 CTATTACTTACTGTATTGATA 0.244 NA 7 29 8.12818e-05 8.70246e-05 0.001984 1 0 HERC1 8925 broad.mit.edu 37 15 63987027 63987027 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:63987027G>C uc002amp.2 - 28 5336 c.5188C>G c.(5188-5190)CAA>GAA p.Q1730E NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1730 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GACAACTGTTGATAAATTTTA 0.378 NA 20 51 0 0 0.010504 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729153 66729153 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:66729153T>A uc010bhq.2 + 3 836 c.361T>A c.(361-363)TGC>AGC p.C121S MAP2K1_uc010ujp.1_Missense_Mutation_p.C99S NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 121 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 TCTGCATGAGTGCAACTCTCC 0.502 NA Cardiofaciocutaneous_syndrome 37 68 0 0 0.003755 0 0 LINGO1 84894 broad.mit.edu 37 15 77907260 77907260 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:77907260G>T uc002bct.1 - 2 1041 c.989C>A c.(988-990)GCC>GAC p.A330D LINGO1_uc002bcu.1_Missense_Mutation_p.A324D NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 330 Extracellular (Potential).|LRR 10. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 GCCGCGGAAGGCATAGGGCTC 0.617 NA 11 17 1.08611e-07 1.25308e-07 0.000978 1 0 MESDC1 59274 broad.mit.edu 37 15 81295579 81295579 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:81295579A>G uc002bfz.2 + 1 2285 c.967A>G c.(967-969)AGG>GGG p.R323G NM_022566 NP_072088 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 323 0 GTCGGACCACAGGGAGAGGCT 0.662 NA 4 11 0 0 0.001168 0 0 IL16 3603 broad.mit.edu 37 15 81585042 81585042 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:81585042G>T uc002bgh.3 + 12 1942 c.1566G>T c.(1564-1566)GGG>GGT p.G522G IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.G522G|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.G564G|IL16_uc002bgg.2_Silent_p.G522G|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.G16G|IL16_uc002bgk.2_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 522 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GGTCCCCAGGGGGAAGTCCTG 0.607 NA 22 50 2.32416e-17 3.6338e-17 0.002299 1 0 AP3B2 8120 broad.mit.edu 37 15 83349376 83349376 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:83349376G>T uc010uoh.1 - 8 1080 c.903C>A c.(901-903)GAC>GAA p.D301E AP3B2_uc010uoi.1_Missense_Mutation_p.D301E|AP3B2_uc010uoj.1_Missense_Mutation_p.D269E|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 301 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GCAGCCGGTGGTCGGGGTCCA 0.706 NA 6 18 0.00198382 0.00206506 0.001984 1 0 AKAP13 11214 broad.mit.edu 37 15 86266326 86266326 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:86266326C>A uc002blv.1 + 26 6690 c.6520C>A c.(6520-6522)CTA>ATA p.L2174I AKAP13_uc002blu.1_Missense_Mutation_p.L2178I|AKAP13_uc010bnf.1_Missense_Mutation_p.L795I|AKAP13_uc002blw.1_Missense_Mutation_p.L639I|AKAP13_uc002blx.1_Missense_Mutation_p.L419I NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2174 Interaction with ESR1.|DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GCAGGAAGATCTAGCACAGTC 0.418 Melanoma(94;603 1453 3280 32295 32951) NA 19 48 2.94398e-08 3.44704e-08 0.007413 1 0 AGBL1 123624 broad.mit.edu 37 15 86702201 86702201 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:86702201G>T uc002blz.1 + 4 374 c.294G>T c.(292-294)ATG>ATT p.M98I NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 98 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 ATGGAGCCATGGAACTGCTTT 0.443 NA 38 82 4.4882e-36 8.77594e-36 0.009718 1 0 ACAN 176 broad.mit.edu 37 15 89400186 89400186 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:89400186T>C uc010upo.1 + 12 4744 c.4370T>C c.(4369-4371)CTA>CCA p.L1457P ACAN_uc010upp.1_Missense_Mutation_p.L1457P|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1457 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGAGAAGTTCTAGAGACTTCT 0.517 NA 84 148 0 0 0.00361 0 0 C15orf42 90381 broad.mit.edu 37 15 90138748 90138748 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:90138748G>T uc002boe.2 + 7 1806 c.1806G>T c.(1804-1806)GTG>GTT p.V602V NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 602 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) GTCCGGATGTGGCTGGGGAGA 0.443 NA 20 59 1.01871e-10 1.31168e-10 0.008871 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100672318 100672318 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:100672318G>T uc002bvv.1 - 12 1694 c.1615C>A c.(1615-1617)CCG>ACG p.P539T ADAMTS17_uc002bvx.1_Missense_Mutation_p.P296T NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 539 Disintegrin. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) ACATGCTCCGGGATGGGCGTC 0.672 NA OREG0023513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 30 0.00621372 0.00639218 0.006214 1 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 3 14 0 0 0.009096 0 0 WDR90 197335 broad.mit.edu 37 16 715997 715997 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:715997G>A uc002cii.1 + 36 4536 c.4482G>A c.(4480-4482)GAG>GAA p.E1494E WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Silent_p.E109E|WDR90_uc010uul.1_Silent_p.E93E|WDR90_uc002cio.1_Silent_p.E93E|WDR90_uc010bqx.1_Silent_p.E93E|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1494 WD 18. ovary(1) 1 Hepatocellular(780;0.0218) GCCGCCCTGAGCAGCAGCGGC 0.687 NA 14 33 0 0 0.010504 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261227 1261227 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:1261227G>T uc002cks.2 + 22 4531 c.4283G>T c.(4282-4284)AGG>ATG p.R1428M CACNA1H_uc002ckt.2_Missense_Mutation_p.R1428M|CACNA1H_uc002cku.2_Missense_Mutation_p.R134M|CACNA1H_uc010brj.2_Missense_Mutation_p.R134M|CACNA1H_uc002ckv.2_Missense_Mutation_p.R134M NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1428 Cytoplasmic (Potential).|III. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TCATCACTCAGGCCCATTGGG 0.597 NA 86 73 1.26005e-42 2.51373e-42 0.00361 1 0 FLYWCH2 114984 broad.mit.edu 37 16 2946481 2946482 + Missense_Mutation DNP GG GG TT rs145971095 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:2946481_2946482GG>TT uc002csa.2 + 3 402_403 c.31_32GG>TT c.(31-33)GGT>TTT p.G11F FLYWCH2_uc010uwj.1_Missense_Mutation_p.G11F|FLYWCH2_uc010uwk.1_Missense_Mutation_p.G11F NM_138439 NP_612448 Q96CP2 FWCH2_HUMAN FLYWCH family member 2 11 0 CGAGCAGGAGGGTGAGAGTGTG 0.658 NA 27 61 0 0 0.004672 0 0 NLRC3 197358 broad.mit.edu 37 16 3613223 3613223 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:3613223T>A uc010btn.2 - 5 2126 c.1715A>T c.(1714-1716)CAT>CTT p.H572L NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 572 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CTGCAGCTCATGCAGGCAGTG 0.716 NA 3 9 0 0 0.004672 0 0 ADCY9 115 broad.mit.edu 37 16 4164474 4164474 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:4164474C>T uc002cvx.2 - 2 1509 c.970G>A c.(970-972)GAA>AAA p.E324K NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 324 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 TTTTCCACTTCCAGGTCCTTC 0.522 NA 55 163 0 0 0.00361 0 0 MYH11 4629 broad.mit.edu 37 16 15829246 15829246 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:15829246G>T uc002ddy.2 - 26 3590 c.3483C>A c.(3481-3483)AGC>AGA p.S1161R MYH11_uc002ddv.2_Missense_Mutation_p.S1168R|MYH11_uc002ddw.2_Missense_Mutation_p.S1161R|MYH11_uc002ddx.2_Missense_Mutation_p.S1168R|MYH11_uc010bvg.2_Missense_Mutation_p.S993R NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1161 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GAGTGGCTGTGCTGTCCAGTG 0.602 NA T CBFB AML 24 82 2.08457e-15 3.09932e-15 0.002096 1 0 ANKS4B 257629 broad.mit.edu 37 16 21261202 21261202 + Silent SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:21261202T>A uc010bwp.1 + 2 358 c.315T>A c.(313-315)GCT>GCA p.A105A CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 105 ANK 3. ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) TGGATGCTGCTGCCAGCAGGG 0.542 NA 26 71 0 0 0.005443 0 0 TNRC6A 27327 broad.mit.edu 37 16 24817548 24817548 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:24817548A>G uc002dmm.2 + 16 4387 c.4273A>G c.(4273-4275)AGG>GGG p.R1425G TNRC6A_uc010bxs.2_Missense_Mutation_p.R1172G|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1123G|TNRC6A_uc002dmo.2_Missense_Mutation_p.R1064G|TNRC6A_uc002dmp.2_Missense_Mutation_p.R26G|TNRC6A_uc002dmq.2_Missense_Mutation_p.R92G NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1425 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GCAGCAGCAAAGGGCGCAGAG 0.507 NA 25 94 0 0 0.005443 0 0 IL27 246778 broad.mit.edu 37 16 28515060 28515060 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:28515060G>T uc002dqc.2 - 3 282 c.259C>A c.(259-261)CTC>ATC p.L87I uc010vct.1_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN interleukin 27 precursor 87 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding 0 ACATCAGGGAGCTGCTCTCCC 0.647 NA 17 59 1.33834e-09 1.64269e-09 0.007413 1 0 ATP2A1 487 broad.mit.edu 37 16 28906166 28906166 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:28906166C>A uc002dro.1 + 12 1495 c.1311C>A c.(1309-1311)GTC>GTA p.V437V uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.V437V|ATP2A1_uc002drp.1_Silent_p.V312V NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 437 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ATGAGAAGGTCGGCGAGGCCA 0.572 NA 13 120 5.50884e-06 6.07978e-06 0.001368 1 0 ITGAM 3684 broad.mit.edu 37 16 31309152 31309152 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:31309152G>T uc002ebq.2 + 14 1682 c.1584G>T c.(1582-1584)GGG>GGT p.G528G ITGAM_uc002ebr.2_Silent_p.G529G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 528 FG-GAP 6.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CAGTGCTGGGGGACGTAAATG 0.607 NA 32 118 1.61788e-16 2.45171e-16 0.002445 1 0 ABCC11 85320 broad.mit.edu 37 16 48218375 48218375 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:48218375G>T uc002eff.1 - 22 3584 c.3234C>A c.(3232-3234)GTC>GTA p.V1078V ABCC11_uc002efg.1_Silent_p.V1078V|ABCC11_uc002efh.1_Silent_p.V1078V|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 1078 Cytoplasmic (Potential).|ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TGACAGCCATGACTTTAAAGG 0.562 NA Cerumen_Type 62 94 3.94896e-32 7.51638e-32 0.00361 1 0 ZNF423 23090 broad.mit.edu 37 16 49559353 49559353 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:49559353C>A uc002efs.2 - 7 3928 c.3630G>T c.(3628-3630)CCG>CCT p.P1210P ZNF423_uc010vgn.1_Silent_p.P1093P NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1210 C2H2-type 28. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGAGCTTGGCCGGGGAGTCGA 0.572 NA 33 145 5.90632e-09 7.12739e-09 0.002445 1 0 NOD2 64127 broad.mit.edu 37 16 50744734 50744734 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:50744734C>A uc002egm.1 + 4 1017 c.912C>A c.(910-912)GGC>GGA p.G304G NOD2_uc010cbk.1_Silent_p.G277G|NOD2_uc002egl.1_Silent_p.G82G|NOD2_uc010cbl.1_Silent_p.G82G|NOD2_uc010cbm.1_Silent_p.G82G|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 304 NACHT.|ATP (Potential). activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) CGGGCAGTGGCAAGAGCACGC 0.627 NA 11 51 1.61879e-10 2.07416e-10 0.001368 1 0 NOD2 64127 broad.mit.edu 37 16 50745614 50745614 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:50745614C>A uc002egm.1 + 4 1897 c.1792C>A c.(1792-1794)CCC>ACC p.P598T NOD2_uc010cbk.1_Missense_Mutation_p.P571T|NOD2_uc002egl.1_Missense_Mutation_p.P376T|NOD2_uc010cbl.1_Missense_Mutation_p.P376T|NOD2_uc010cbm.1_Missense_Mutation_p.P376T|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 598 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) GAGTACGGCGCCCCTGGAATT 0.567 NA 11 65 1.08611e-07 1.25308e-07 0.000978 1 0 CYLD 1540 broad.mit.edu 37 16 50788335 50788335 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:50788335G>T uc002egp.1 + 6 1328 c.913G>T c.(913-915)GCT>TCT p.A305S CYLD_uc002egn.1_Nonsense_Mutation_p.E305*|CYLD_uc002ego.2_Nonsense_Mutation_p.E305*|CYLD_uc010cbs.1_Nonsense_Mutation_p.E305*|CYLD_uc002egq.1_Nonsense_Mutation_p.E305*|CYLD_uc002egr.1_Nonsense_Mutation_p.E305*|CYLD_uc002egs.1_Nonsense_Mutation_p.E305* NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 305 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TATCATCCCAGGTATGTTTTC 0.254 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 31 44 3.99451e-17 6.18403e-17 0.009535 1 0 SALL1 6299 broad.mit.edu 37 16 51173730 51173730 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:51173730G>T uc010vgs.1 - 2 2434 c.2403C>A c.(2401-2403)AGC>AGA p.S801R SALL1_uc010vgr.1_Missense_Mutation_p.S704R|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 801 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACTCAGAGTAGCTGTCGGGGA 0.512 GBM(103;1352 1446 1855 4775 8890) NA 118 196 8.58103e-55 1.7609e-54 0.00361 1 0 CHD9 80205 broad.mit.edu 37 16 53342725 53342725 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:53342725A>G uc002ehb.2 + 33 7345 c.7181A>G c.(7180-7182)GAG>GGG p.E2394G CHD9_uc002egy.2_Missense_Mutation_p.E2378G|CHD9_uc002ehc.2_Missense_Mutation_p.E2379G|CHD9_uc002ehf.2_Missense_Mutation_p.E1492G|CHD9_uc010cbw.2_Missense_Mutation_p.E460G|CHD9_uc002ehg.1_Missense_Mutation_p.E401G NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2394 Binds A/T-rich DNA. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) AGTGCATCAGAGACCAGCCTC 0.438 NA 9 27 0 0 0.006214 0 0 CES7 221223 broad.mit.edu 37 16 55880525 55880525 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:55880525G>T uc002eip.2 - 13 1715 c.1566C>A c.(1564-1566)GAC>GAA p.D522E CES7_uc002eio.2_Missense_Mutation_p.D472E|CES7_uc002eiq.2_Missense_Mutation_p.D283E|CES7_uc002eir.2_Missense_Mutation_p.D416E NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 522 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) TCATGTTCAAGTCCAGCTGGA 0.537 NA 238 454 3.0631e-104 6.36866e-104 0.00361 1 0 BBS2 583 broad.mit.edu 37 16 56536304 56536304 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:56536304C>A uc002ejd.2 - 9 1239 c.1005G>T c.(1003-1005)CAG>CAT p.Q335H BBS2_uc010ccg.2_3'UTR NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 335 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 GGATCAGGTCCTGCTCTGCAC 0.522 NA Bardet-Biedl_syndrome 56 224 3.19069e-20 5.22715e-20 0.00361 1 0 SLC12A3 6559 broad.mit.edu 37 16 56901119 56901119 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:56901119G>A uc010ccm.2 + 2 449 c.420G>A c.(418-420)AAG>AAA p.K140K SLC12A3_uc002ekd.3_Silent_p.K140K|SLC12A3_uc010ccn.2_Silent_p.K139K NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 140 Helical; (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCTGGGTCAAGGGGGTGATGG 0.662 NA 6 32 0 0 0.001168 0 0 CDH8 1006 broad.mit.edu 37 16 61851501 61851501 + Nonsense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:61851501C>A uc002eog.1 - 7 1411 c.1159G>T c.(1159-1161)GAG>TAG p.E387* CDH8_uc002eoh.2_Nonsense_Mutation_p.E156* NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 387 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ACCGGAGGCTCATCAGCATCT 0.498 NA 47 102 1.89013e-27 3.43977e-27 0.00361 1 0 TRADD 8717 broad.mit.edu 37 16 67190465 67190465 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:67190465C>A uc002eri.1 - 2 179 c.99G>T c.(97-99)GCG>GCT p.A33A TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_Silent_p.A33A NM_003789 NP_003780 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 33 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity lung(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GCTGGGGGTGCGCGTAGGCAT 0.632 NA OREG0023872 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 177 3.77016e-25 6.64627e-25 0.003214 1 0 DPEP3 64180 broad.mit.edu 37 16 68010643 68010643 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:68010643C>T uc002evc.3 - 8 1223 c.1129G>A c.(1129-1131)GAG>AAG p.E377K DPEP3_uc010cex.2_Missense_Mutation_p.E376K NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 352 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CCGATGAACTCAGATCCAATG 0.562 NA 7 47 0 0 0.00308 0 0 TAT 6898 broad.mit.edu 37 16 71604708 71604708 + Silent SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:71604708T>A uc002fap.2 - 8 885 c.786A>T c.(784-786)CCA>CCT p.P262P NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 262 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GGGTGGCCAGTGGTTCATATT 0.552 Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594) NA 11 62 0 0 0.001855 0 0 CTRB2 440387 broad.mit.edu 37 16 75238132 75238132 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:75238132G>T uc002fdr.2 - 7 752 c.719C>A c.(718-720)ACC>AAC p.T240N NM_001025200 NP_001020371 Q6GPI1 CTRB2_HUMAN chymotrypsin B2 precursor 240 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity 0 GGGCGTGGTGGTAGAGCAGGT 0.667 NA 29 100 1.16021e-09 1.42851e-09 0.007291 1 0 SDR42E1 93517 broad.mit.edu 37 16 82033148 82033148 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:82033148C>A uc002fgu.2 - 3 878 c.750G>T c.(748-750)CAG>CAT p.Q250H NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, 250 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding 0 TGAAGTAGGGCTGCCCAGAGG 0.567 NA 64 270 2.6711e-34 5.13373e-34 0.00361 1 0 OR1D4 8385 broad.mit.edu 37 17 2966144 2966145 + Missense_Mutation DNP CC CC AA TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:2966144_2966145CC>AA uc010vra.1 - 1 811_812 c.811_812GG>TT c.(811-813)GGG>TTG p.G271L NM_003552 NP_003543 olfactory receptor, family 1, subfamily D, 0 AGCAAGCGTCCCATAAAAGAGG 0.495 NA 24 88 0 0 0.004672 0 0 MYH2 4620 broad.mit.edu 37 17 10432233 10432233 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:10432233C>A uc010coi.2 - 27 3646 c.3518G>T c.(3517-3519)CGG>CTG p.R1173L uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1173L|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1173 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTCAGCCTCCCGCTTCTTGTT 0.597 NA 69 127 5.46685e-50 1.11603e-49 0.00361 1 0 MAP2K4 6416 broad.mit.edu 37 17 12044543 12044543 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:12044543C>T uc002gnj.2 + 11 1235 c.1166C>T c.(1165-1167)CCA>CTA p.P389L MAP2K4_uc002gnk.2_Missense_Mutation_p.P400L|MAP2K4_uc010vvi.1_Missense_Mutation_p.P271L|MAP2K4_uc010vvj.1_Missense_Mutation_p.P261L NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 389 cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(2) large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) GATCAAATGCCAGCTACTCCC 0.408 NA D|Mis|N pancreatic|breast|colorectal 24 58 0 0 0.00333 0 0 HS3ST3B1 9953 broad.mit.edu 37 17 14248435 14248435 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:14248435G>T uc002goh.1 + 2 975 c.645G>T c.(643-645)TCG>TCT p.S215S NM_006041 NP_006032 Q9Y662 HS3SB_HUMAN heparan sulfate D-glucosaminyl 215 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CGCGCATCTCGGCCATGTCCA 0.642 NA 22 36 4.26978e-12 5.81103e-12 0.00333 1 0 MFAP4 4239 broad.mit.edu 37 17 19288711 19288711 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:19288711G>T uc002gvt.2 - 4 322 c.297C>A c.(295-297)TAC>TAA p.Y99* MFAP4_uc002gvr.2_Intron|MFAP4_uc002gvs.2_Nonsense_Mutation_p.Y123* NM_002404 NP_002395 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 precursor 99 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding 0 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) AGCCCAGCTTGTAGTCATTCC 0.572 NA 19 38 1.96292e-10 2.48679e-10 0.010504 1 0 SLC47A1 55244 broad.mit.edu 37 17 19445753 19445753 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:19445753G>T uc002gvy.1 + 2 269 c.183G>T c.(181-183)GTG>GTT p.V61V SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Silent_p.V61V|SLC47A1_uc010vyz.1_Silent_p.V61V|SLC47A1_uc010cqp.1_Silent_p.V61V NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 61 Extracellular (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TAAGCTCCGTGTTCTGTGGCC 0.542 NA 30 79 9.65021e-13 1.36035e-12 0.002096 1 0 C17orf63 55731 broad.mit.edu 37 17 27093631 27093631 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:27093631T>A uc002hct.1 - 2 322 c.55A>T c.(55-57)ACG>TCG p.T19S C17orf63_uc010wax.1_Missense_Mutation_p.T19S|C17orf63_uc010way.1_Missense_Mutation_p.T19S|C17orf63_uc002hcw.2_5'UTR NM_018182 NP_060652 Q8WU58 CQ063_HUMAN hypothetical protein LOC55731 19 ovary(1) 1 all_epithelial(6;5.06e-20)|Lung NSC(42;0.01) Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104) TTCATCTGCGTGTGAGAAAGA 0.478 NA 8 17 0 0 0.004482 0 0 PSMD11 5717 broad.mit.edu 37 17 30800864 30800864 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:30800864C>T uc010cta.1 + 7 729 c.689C>T c.(688-690)TCA>TTA p.S230L PSMD11_uc010wbz.1_Missense_Mutation_p.S230L|PSMD11_uc002hhm.2_Missense_Mutation_p.S230L NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 230 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) ACTGCGTACTCATACTTCTAT 0.388 Ovarian(130;1038 1716 9294 11987 19279) NA 40 134 0 0 0.007835 0 0 TMEM132E 124842 broad.mit.edu 37 17 32962070 32962070 + Silent SNP G G T rs146893987 byFrequency TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:32962070G>T uc002hif.2 + 8 1999 c.1671G>T c.(1669-1671)ACG>ACT p.T557T NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 557 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) ACAGCAGCACGCTGGCAGGAC 0.617 NA 18 47 1.02788e-11 1.38221e-11 0.00499 1 0 SLFN13 146857 broad.mit.edu 37 17 33768287 33768287 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:33768287C>G uc002hjk.1 - 4 2351 c.2021G>C c.(2020-2022)CGT>CCT p.R674P SLFN13_uc010wch.1_Missense_Mutation_p.R674P|SLFN13_uc002hjl.2_Missense_Mutation_p.R674P|SLFN13_uc010ctt.2_Missense_Mutation_p.R356P|SLFN13_uc002hjm.2_Missense_Mutation_p.R343P NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 674 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ATCTTCAGTACGGAAATTCTG 0.433 NA 55 169 0 0 0.00361 0 0 LYZL6 57151 broad.mit.edu 37 17 34263771 34263771 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:34263771C>A uc002hkj.1 - 3 515 c.365G>T c.(364-366)GGG>GTG p.G122V LYZL6_uc002hkk.1_Missense_Mutation_p.G122V NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 122 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTTGTTCATCCCCCGTGCTCC 0.577 NA 39 163 3.78316e-11 4.95204e-11 0.00623 1 0 FBXO47 494188 broad.mit.edu 37 17 37119170 37119170 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:37119170G>A uc002hrc.2 - 2 309 c.109C>T c.(109-111)CCC>TCC p.P37S NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN F-box protein 47 37 0 GTTGATATGGGTTGAAAGCCT 0.353 NA 26 92 0 0 0.004656 0 0 KIF18B 146909 broad.mit.edu 37 17 43004447 43004447 + Splice_Site SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:43004447C>A uc010wji.1 - 14 2387 c.2286_splice c.e14-1 p.R762_splice KIF18B_uc002iht.2_Splice_Site_p.R771_splice|KIF18B_uc010wjh.1_Splice_Site_p.R759_splice NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) CACAGGTGCCCTGGGGAGGGA 0.463 NA 11 31 5.16669e-11 6.7295e-11 0.000978 1 0 MAP3K14 9020 broad.mit.edu 37 17 43364128 43364128 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:43364128G>A uc002iiw.1 - 6 931 c.822C>T c.(820-822)CCC>CCT p.P274P MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_5'UTR NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 274 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 GAGGTTTCCAGGGCTGGAGAG 0.622 NA 9 21 0 0 0.000978 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43531202 43531202 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:43531202A>T uc002ija.2 - 7 2186 c.2016T>A c.(2014-2016)TTT>TTA p.F672L PLEKHM1_uc010wjm.1_Missense_Mutation_p.F644L|PLEKHM1_uc002ijb.2_Missense_Mutation_p.F147L|PLEKHM1_uc010wjn.1_Missense_Mutation_p.F621L|PLEKHM1_uc002ijc.2_Missense_Mutation_p.F126L NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 672 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) ACGACCAGTCAAACTGTGTGC 0.612 NA 40 131 0 0 0.00874 0 0 IMP5 162540 broad.mit.edu 37 17 43922293 43922293 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:43922293C>T uc010wka.1 + 1 21 c.21C>T c.(19-21)CTC>CTT p.L7L LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 7 integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) TGGGCTTCCTCCTCCCCGTGG 0.627 NSCLC(24;34 1393 18470) NA 19 74 0 0 0.007413 0 0 MAPT 4137 broad.mit.edu 37 17 44067349 44067349 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:44067349G>T uc002ijr.3 + 8 1608 c.1288G>T c.(1288-1290)GCT>TCT p.A430S MAPT_uc010dau.2_Missense_Mutation_p.A430S|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 430 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CTCCAGCCCTGCTGTGTGCCC 0.522 NA 116 388 3.39137e-47 6.86993e-47 0.00361 1 0 KIF2B 84643 broad.mit.edu 37 17 51901354 51901354 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:51901354G>T uc002iua.2 + 1 1116 c.960G>T c.(958-960)ACG>ACT p.T320T uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 320 Kinesin-motor. T -> K (in Ref. 2; BAB71406). blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TTTCAGGAACGGCCCAAGATT 0.522 NA 41 129 3.61848e-18 5.72562e-18 0.007835 1 0 DDX42 11325 broad.mit.edu 37 17 61864590 61864590 + Missense_Mutation SNP A A C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:61864590A>C uc002jbu.2 + 3 438 c.181A>C c.(181-183)AAA>CAA p.K61Q DDX42_uc002jbv.2_Missense_Mutation_p.K61Q NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 61 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 TTCTTTCTACAAAATTGGATC 0.448 NA 44 131 0 0 0.00361 0 0 SCN4A 6329 broad.mit.edu 37 17 62019252 62019252 + Missense_Mutation SNP C C T rs150423825 by1000genomes TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:62019252C>T uc002jds.1 - 24 4467 c.4390G>A c.(4390-4392)GGG>AGG p.G1464R NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1464 Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CCCTTGGCCCCGCGGATCAGC 0.617 NA 22 42 0 0 0.002299 0 0 TEX2 55852 broad.mit.edu 37 17 62230430 62230430 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:62230430C>G uc002jec.2 - 10 3188 c.3015G>C c.(3013-3015)GAG>GAC p.E1005D TEX2_uc002jed.2_Missense_Mutation_p.E1012D|TEX2_uc002jee.2_Missense_Mutation_p.E1005D NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 1005 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TAAACTCTGTCTCTGTTGCTT 0.388 NA 16 88 0 0 0.003163 0 0 ABCA10 10349 broad.mit.edu 37 17 67190582 67190582 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:67190582C>A uc010dfa.1 - 13 2168 c.1289G>T c.(1288-1290)GGA>GTA p.G430V ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.G31V NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 430 ATP 1 (Potential).|ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TTTACCAGCTCCATTATGCCC 0.333 NA 24 119 1.66031e-10 2.1136e-10 0.003954 1 0 EPB41L3 23136 broad.mit.edu 37 18 5416157 5416157 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:5416157C>A uc002kmt.1 - 13 1813 c.1727G>T c.(1726-1728)AGA>ATA p.R576I EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 576 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AGTTTGCTGTCTGTAGCTAAA 0.577 NA 41 132 1.22674e-20 2.03083e-20 0.00874 1 0 TUBB6 84617 broad.mit.edu 37 18 12325202 12325202 + Silent SNP G G C rs148645230 byFrequency TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:12325202G>C uc002kqw.2 + 4 459 c.414G>C c.(412-414)TCG>TCC p.S138S TUBB6_uc002kqv.2_Silent_p.S66S|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.S101S|TUBB6_uc002kqy.2_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 138 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) TCACGCACTCGCTGGGCGGCG 0.657 NA 35 61 0 0 0.003271 0 0 C18orf1 753 broad.mit.edu 37 18 13645329 13645329 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:13645329G>T uc002ksa.2 + 7 1262 c.594G>T c.(592-594)ATG>ATT p.M198I C18orf1_uc002ksb.2_Missense_Mutation_p.M180I|C18orf1_uc002kse.2_Missense_Mutation_p.M161I|C18orf1_uc002ksf.2_Missense_Mutation_p.M143I|C18orf1_uc002ksg.1_Missense_Mutation_p.M121I|C18orf1_uc002ksh.1_Missense_Mutation_p.M140I|C18orf1_uc002ksi.1_Missense_Mutation_p.M122I NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 198 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) AACAGCAGATGGAACTCAACC 0.567 NA 37 122 7.61165e-28 1.39488e-27 0.003755 1 0 ROCK1 6093 broad.mit.edu 37 18 18622649 18622649 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:18622649T>C uc002kte.2 - 7 1638 c.697A>G c.(697-699)ACA>GCA p.T233A NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 233 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CCAACCGCTGTATCACATCGT 0.378 NA 35 96 0 0 0.003755 0 0 LAMA3 3909 broad.mit.edu 37 18 21416983 21416983 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:21416983G>T uc002kuq.2 + 25 3109 c.3023G>T c.(3022-3024)CGC>CTC p.R1008L LAMA3_uc002kur.2_Missense_Mutation_p.R1008L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1008 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACATGAGCCGCATCGCCATG 0.453 NA 16 76 8.00594e-06 8.81101e-06 0.007413 1 0 ZNF521 25925 broad.mit.edu 37 18 22902056 22902056 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:22902056C>A uc002kvk.2 - 3 383 c.136G>T c.(136-138)GTG>TTG p.V46L ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.V46L|ZNF521_uc002kvl.2_5'UTR NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 46 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CAGCTGTGCACAGCTTCGTCT 0.463 NA T PAX5 ALL 46 96 1.06522e-23 1.84077e-23 0.003214 1 0 CHST9 83539 broad.mit.edu 37 18 24604116 24604116 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:24604116C>T uc002kwd.2 - 3 364 c.166G>A c.(166-168)GGA>AGA p.G56R C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_5'UTR|CHST9_uc002kwe.2_Missense_Mutation_p.G56R NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 56 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) TTCACTGGTCCCCATCCTGAA 0.378 NA 8 39 0 0 0.004482 0 0 CDH2 1000 broad.mit.edu 37 18 25727729 25727729 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:25727729C>A uc002kwg.2 - 2 539 c.80G>T c.(79-81)GGT>GTT p.G27V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 27 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 TGCGATTTCACCAGAAGCCTC 0.413 NA 9 36 3.86212e-05 4.16897e-05 0.008291 1 0 SLC39A6 25800 broad.mit.edu 37 18 33706321 33706321 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:33706321T>A uc010dmy.2 - 2 940 c.650A>T c.(649-651)GAT>GTT p.D217V SLC39A6_uc002kzj.2_Intron NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 217 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 GCTGCTTACATCTTTGGGGAA 0.498 NA 68 159 0 0 0.00361 0 0 FHOD3 80206 broad.mit.edu 37 18 34349242 34349242 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:34349242T>A uc002kzt.1 + 23 4136 c.4039T>A c.(4039-4041)TGG>AGG p.W1347R FHOD3_uc002kzs.1_Missense_Mutation_p.W1364R|FHOD3_uc010dmz.1_Missense_Mutation_p.W1079R|FHOD3_uc010dnb.1_Silent_p.P284P NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1347 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTAGTTCCTGGACTATGGG 0.473 NA 35 59 0 0 0.005524 0 0 CELF4 56853 broad.mit.edu 37 18 34854816 34854816 + Silent SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:34854816G>C uc002lae.2 - 5 1005 c.609C>G c.(607-609)GCC>GCG p.A203A CELF4_uc010dnd.1_Silent_p.A202A|CELF4_uc002lag.2_Silent_p.A193A|CELF4_uc002laf.2_Silent_p.A198A|CELF4_uc002lai.2_Silent_p.A188A|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 203 Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CCTGCGCCTCGGCGTGGGAGG 0.736 NA 3 13 0 0 0.004672 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555227 44555227 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:44555227G>A uc010xdb.1 - 1 1223 c.987C>T c.(985-987)GCC>GCT p.A329A KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 329 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 GGAGCTGGCAGGCAGGCCTGG 0.667 NA 15 557 0 0 0.002299 0 0 MAPK4 5596 broad.mit.edu 37 18 48248367 48248367 + Nonsense_Mutation SNP G G T rs66911538 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:48248367G>T uc002lev.2 + 4 1751 c.751G>T c.(751-753)GAA>TAA p.E251* MAPK4_uc010xdm.1_Nonsense_Mutation_p.E40*|MAPK4_uc010doz.2_Intron NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 251 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) AATCCGGGAGGAAGACAAGGA 0.577 NA 14 62 0.00185496 0.00194118 0.001855 1 0 SERPINB2 5055 broad.mit.edu 37 18 61570386 61570386 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:61570386G>T uc010xeu.1 + 9 1428 c.1095G>T c.(1093-1095)GAG>GAT p.E365D SERPINB2_uc002ljo.2_Missense_Mutation_p.E365D|SERPINB2_uc010dqh.2_Missense_Mutation_p.E295D|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 365 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TGAATGAGGAGGGCACTGAAG 0.502 NA 18 65 7.45023e-12 1.00699e-11 0.010504 1 0 CDH7 1005 broad.mit.edu 37 18 63511299 63511299 + Silent SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr18:63511299G>C uc002ljz.2 + 7 1558 c.1233G>C c.(1231-1233)GTG>GTC p.V411V CDH7_uc002lka.2_Silent_p.V411V|CDH7_uc002lkb.2_Silent_p.V411V NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 411 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) ATAGCCCTGTGAGGTAAAAAC 0.418 NA 39 78 0 0 0.00623 0 0 MUC16 94025 broad.mit.edu 37 19 9020128 9020128 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:9020128A>T uc002mkp.2 - 21 37571 c.37367T>A c.(37366-37368)GTG>GAG p.V12456E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12458 Extracellular (Potential).|SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GATGGCATCCACTCCAGTGGC 0.517 NA 48 92 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9047436 9047436 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:9047436C>A uc002mkp.2 - 5 34399 c.34195G>T c.(34195-34197)GAT>TAT p.D11399Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11401 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTGGTACATCAGGTGAGACA 0.463 NA 48 86 1.17673e-23 2.02902e-23 0.00361 1 0 ACP5 54 broad.mit.edu 37 19 11687570 11687570 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:11687570A>T uc002msg.3 - 3 496 c.350T>A c.(349-351)GTC>GAC p.V117D ACP5_uc002msh.3_Missense_Mutation_p.V117D|ACP5_uc002msi.3_Missense_Mutation_p.V117D|ACP5_uc002msj.3_Missense_Mutation_p.V117D|ACP5_uc010dye.1_3'UTR NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 117 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 CTGGGCAGAGACATTGCCAAG 0.562 NA 26 145 0 0 0.00632 0 0 F2RL3 9002 broad.mit.edu 37 19 17000732 17000732 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:17000732C>T uc002nfa.2 + 2 633 c.458C>T c.(457-459)ACG>ATG p.T153M NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 153 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 CGCCTGGCCACGGCCGCACTC 0.736 NA 4 5 0 0 0.009096 0 0 ZNF208 7757 broad.mit.edu 37 19 22154978 22154978 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:22154978G>T uc002nqp.2 - 5 2707 c.2558C>A c.(2557-2559)GCC>GAC p.A853D ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGACTTATAGGCTTTGCCACA 0.368 NA 16 29 2.32078e-09 2.83093e-09 0.003163 1 0 TMEM149 79713 broad.mit.edu 37 19 36230498 36230498 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:36230498A>G uc002obc.2 - 5 852 c.751T>C c.(751-753)TCT>CCT p.S251P TMEM149_uc002obb.2_Missense_Mutation_p.S63P|TMEM149_uc002obd.3_Missense_Mutation_p.S251P|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.S331P NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 251 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGAGGCGAGACAGGGGTTGT 0.627 NA 37 90 0 0 0.006999 0 0 ZNF570 148268 broad.mit.edu 37 19 37976118 37976118 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:37976118A>T uc002ogk.1 + 5 2123 c.1594A>T c.(1594-1596)AAT>TAT p.N532Y ZNF570_uc010efl.1_Missense_Mutation_p.N588Y|ZNF570_uc010xtr.1_Missense_Mutation_p.N329Y NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 532 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) caacccagtcaatcaccaagt 0.174 NA 11 32 0 0 0.000978 0 0 RYR1 6261 broad.mit.edu 37 19 38976573 38976573 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:38976573C>A uc002oit.2 + 34 5408 c.5278C>A c.(5278-5280)CAT>AAT p.H1760N RYR1_uc002oiu.2_Missense_Mutation_p.H1760N NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1760 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCACCCCCGGCATGGCCTGCC 0.642 NA 14 64 0.00244969 0.00254329 0.00245 1 0 FCGBP 8857 broad.mit.edu 37 19 40411754 40411754 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:40411754C>G uc002omp.3 - 7 3882 c.3874G>C c.(3874-3876)GCC>CCC p.A1292P NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1292 VWFD 3. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCAGGACGGCAAACCGATGC 0.637 NA 38 77 0 0 0.00361 0 0 LIG1 3978 broad.mit.edu 37 19 48653099 48653099 + Splice_Site SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:48653099C>A uc002pia.1 - 9 818 c.698_splice c.e9-1 p.T233_splice LIG1_uc010xze.1_Splice_Site|LIG1_uc002phz.1_Splice_Site|LIG1_uc002pib.1_Splice_Site|LIG1_uc010xzf.1_Splice_Site_p.T165_splice|LIG1_uc010xzg.1_Splice_Site_p.T202_splice|LIG1_uc010xzh.1_Splice_Site NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TTCCGGGGGGCTAGGAATGAA 0.582 NA NER 3 24 0.004672 0.00481247 0.004672 1 0 TMEM143 55260 broad.mit.edu 37 19 48845927 48845927 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:48845927C>T uc002pix.1 - 6 844 c.835G>A c.(835-837)GCC>ACC p.A279T TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.A244T|TMEM143_uc010xzn.1_Missense_Mutation_p.A214T|TMEM143_uc010elw.1_Missense_Mutation_p.A179T|TMEM143_uc010xzo.1_Missense_Mutation_p.A69T NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 279 integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) TTGAGCAGGGCGCGCTGCAGG 0.642 NA 15 38 0 0 0.003163 0 0 GPR32 2854 broad.mit.edu 37 19 51274539 51274539 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:51274539C>T uc010ycf.1 + 1 682 c.682C>T c.(682-684)CCC>TCC p.P228S NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 228 Helical; Name=5; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTTCCTGGGGCCCTTAGCAAT 0.597 Esophageal Squamous(113;152 1581 5732 15840 44398) NA 20 41 0 0 0.008871 0 0 KLK15 55554 broad.mit.edu 37 19 51330233 51330233 + Missense_Mutation SNP G G T rs7247190 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:51330233G>T uc002ptl.2 - 3 413 c.382C>A c.(382-384)CCC>ACC p.P128T KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.P128T|KLK15_uc002pto.2_Missense_Mutation_p.P127T|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.P127T|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 128 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CAACGCGTGGGTAGCACCGCG 0.711 Pancreas(140;10 2513 7143 9246) NA 27 52 6.12954e-19 9.79731e-19 0.004656 1 0 NLRP12 91662 broad.mit.edu 37 19 54304586 54304586 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:54304586T>C uc002qch.3 - 7 2871 c.2651A>G c.(2650-2652)CAG>CGG p.Q884R NLRP12_uc010eqw.2_Missense_Mutation_p.Q167R|NLRP12_uc002qci.3_Missense_Mutation_p.Q884R|NLRP12_uc002qcj.3_Missense_Mutation_p.Q885R|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 884 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.Q884H(1) ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCTCAGGCTCTGGTTCACACT 0.592 NA 26 64 0 0 0.008361 0 0 NLRP4 147945 broad.mit.edu 37 19 56369712 56369712 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:56369712C>A uc002qmd.3 + 3 1375 c.953C>A c.(952-954)CCG>CAG p.P318Q NLRP4_uc002qmf.2_Missense_Mutation_p.P243Q|NLRP4_uc010etf.2_Missense_Mutation_p.P149Q NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 318 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TTCAAAGACCCGAAAAGAGCC 0.483 NA 37 58 1.04352e-10 1.34142e-10 0.003755 1 0 ZIM3 114026 broad.mit.edu 37 19 57646630 57646630 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr19:57646630C>T uc002qnz.1 - 5 1461 c.1075G>A c.(1075-1077)GGG>AGG p.G359R NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCTCTCTTCCCAGTGTGAATT 0.393 NA 65 129 0 0 0.00361 0 0 TTC15 51112 broad.mit.edu 37 2 3428348 3428348 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:3428348C>T uc002qxm.1 + 5 1537 c.1331C>T c.(1330-1332)GCT>GTT p.A444V TTC15_uc002qxn.1_Missense_Mutation_p.A444V|TTC15_uc010ewm.1_Missense_Mutation_p.A444V NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 444 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) TTCCAGAATGCTGAGATGGAA 0.448 NA 87 178 0 0 0.00361 0 0 NBAS 51594 broad.mit.edu 37 2 15470780 15470780 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:15470780T>A uc002rcc.1 - 36 4315 c.4289A>T c.(4288-4290)CAG>CTG p.Q1430L NBAS_uc010exl.1_Missense_Mutation_p.Q502L|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1430 ovary(2)|liver(1)|skin(1) 4 ACTGACGGCCTGCAGCACCGC 0.493 NA 25 62 0 0 0.004656 0 0 SUPT7L 9913 broad.mit.edu 37 2 27884203 27884203 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:27884203C>A uc002rlh.1 - 3 410 c.67G>T c.(67-69)GAT>TAT p.D23Y SUPT7L_uc002rli.1_Missense_Mutation_p.D23Y|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Missense_Mutation_p.D21Y|SUPT7L_uc010ezh.1_Missense_Mutation_p.D21Y|SLC4A1AP_uc002rlk.3_5'Flank NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 23 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) GGGAGCAAATCGAAGGAACTT 0.507 NA 28 58 3.57733e-08 4.1824e-08 0.009535 1 0 CAPN13 92291 broad.mit.edu 37 2 30955326 30955326 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:30955326C>A uc002rnn.2 - 19 2081 c.1905G>T c.(1903-1905)CTG>CTT p.L635L CAPN13_uc002rnm.2_RNA NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 635 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CAAGCCGCATCAGGAAGCAGA 0.607 NA 12 17 2.61681e-11 3.43103e-11 0.00245 1 0 EPAS1 2034 broad.mit.edu 37 2 46611777 46611777 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:46611777G>T uc002ruv.2 + 16 3079 c.2591G>T c.(2590-2592)AGA>ATA p.R864I EPAS1_uc002ruw.2_Missense_Mutation_p.R330I NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 864 CTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GACCTCCTCAGAGCCCTGGAC 0.607 NA 10 93 7.48243e-07 8.41106e-07 0.006214 1 0 ASB3 51130 broad.mit.edu 37 2 53943863 53943863 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:53943863G>C uc002rxg.1 - 6 757 c.622C>G c.(622-624)CAA>GAA p.Q208E ASB3_uc002rxh.1_Missense_Mutation_p.Q135E|ASB3_uc002rxi.3_Missense_Mutation_p.Q246E|ASB3_uc010yoo.1_Missense_Mutation_p.Q125E NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 208 intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCAAGGCTTGACAATTGACA 0.378 NA 8 234 0 0 0.004482 0 0 CCDC88A 55704 broad.mit.edu 37 2 55549736 55549736 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:55549736C>A uc002ryv.2 - 18 3929 c.3087G>T c.(3085-3087)TGG>TGT p.W1029C CCDC88A_uc010yoz.1_Missense_Mutation_p.W1030C|CCDC88A_uc010ypa.1_Missense_Mutation_p.W1029C|CCDC88A_uc002ryu.2_Missense_Mutation_p.W312C|CCDC88A_uc002rys.2_Missense_Mutation_p.W15C|CCDC88A_uc002ryw.2_Missense_Mutation_p.W313C|CCDC88A_uc010fby.1_Intron NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1030 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TTTCTCGCTCCCATTTGTTGT 0.328 NA 93 118 1.7666e-45 3.56031e-45 0.00361 1 0 BCL11A 53335 broad.mit.edu 37 2 60773198 60773198 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:60773198G>T uc002sae.1 - 2 521 c.293C>A c.(292-294)CCC>CAC p.P98H BCL11A_uc002sab.2_Missense_Mutation_p.P98H|BCL11A_uc002sac.2_Missense_Mutation_p.P98H|BCL11A_uc010ypi.1_5'UTR|BCL11A_uc010ypj.1_Missense_Mutation_p.P98H|BCL11A_uc002saf.1_Missense_Mutation_p.P98H|BCL11A_uc010fcg.2_Missense_Mutation_p.P98H NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 98 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AACCTCCACGGGATTGGATGC 0.473 NA T IGH@ B-CLL 41 125 3.09479e-21 5.1558e-21 0.006999 1 0 DYSF 8291 broad.mit.edu 37 2 71827833 71827833 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:71827833G>T uc002sie.2 + 34 4080 c.3704G>T c.(3703-3705)GGT>GTT p.G1235V DYSF_uc010feg.2_Missense_Mutation_p.G1266V|DYSF_uc010feh.2_Missense_Mutation_p.G1221V|DYSF_uc002sig.3_Missense_Mutation_p.G1221V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G1235V|DYSF_uc010fef.2_Missense_Mutation_p.G1252V|DYSF_uc010fei.2_Missense_Mutation_p.G1252V|DYSF_uc010fek.2_Missense_Mutation_p.G1253V|DYSF_uc010fej.2_Missense_Mutation_p.G1222V|DYSF_uc010fel.2_Missense_Mutation_p.G1222V|DYSF_uc010feo.2_Missense_Mutation_p.G1267V|DYSF_uc010fem.2_Missense_Mutation_p.G1236V|DYSF_uc010fen.2_Missense_Mutation_p.G1253V|DYSF_uc002sif.2_Missense_Mutation_p.G1236V|DYSF_uc010yqy.1_Missense_Mutation_p.G116V|DYSF_uc010yqz.1_5'Flank NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1235 Cytoplasmic (Potential).|C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TTGGTCTAGGGTGCAGACGAG 0.577 NA 106 192 2.68927e-46 5.43371e-46 0.00361 1 0 LBX2 85474 broad.mit.edu 37 2 74725064 74725064 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:74725064A>T uc002slv.3 - 2 592 c.587T>A c.(586-588)GTG>GAG p.V196E LBX2_uc002slw.2_Missense_Mutation_p.V192E NM_001009812 NP_001009812 Q6XYB7 LBX2_HUMAN ladybird homeobox 2 196 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCAATCGTCCACCTGTATCTC 0.667 NA 19 27 0 0 0.003954 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745991 77745991 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:77745991C>A uc002snr.2 - 3 1419 c.1004G>T c.(1003-1005)AGC>ATC p.S335I LRRTM4_uc002snq.2_Missense_Mutation_p.S335I|LRRTM4_uc002sns.2_Missense_Mutation_p.S335I|LRRTM4_uc002snt.2_Missense_Mutation_p.S336I NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 335 LRRCT.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TATCATGGTGCTTTCCTTATT 0.393 NA 5 26 1.23904e-05 1.35606e-05 0.000602 1 0 ATOH8 84913 broad.mit.edu 37 2 85991289 85991289 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:85991289G>C uc002sqn.2 + 2 1348 c.944G>C c.(943-945)CGT>CCT p.R315P ATOH8_uc002sqm.3_Missense_Mutation_p.R315P NM_032827 NP_116216 Q96SQ7 ATOH8_HUMAN atonal homolog 8 315 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 GCCGAGGGACGTGCCAAGAAG 0.657 NA 11 80 0 0 0.003163 0 0 CD8A 925 broad.mit.edu 37 2 87017643 87017643 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:87017643G>C uc002srt.2 - 2 1100 c.211C>G c.(211-213)CTA>GTA p.L71V RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.L71V|CD8A_uc010ytn.1_Missense_Mutation_p.L112V|CD8A_uc002sru.2_Missense_Mutation_p.L71V NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 71 Ig-like V-type.|Extracellular (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 GAGAGGTATAGGAGGAAGGTG 0.667 NA 30 107 0 0 0.003271 0 0 POLR1B 84172 broad.mit.edu 37 2 113304689 113304689 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:113304689G>C uc002thw.2 + 2 858 c.278G>C c.(277-279)TGC>TCC p.C93S POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Missense_Mutation_p.C93S|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.C131S|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_Intron NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 93 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 GGGACCATCTGCAAAGAGGCC 0.458 Ovarian(16;256 576 9537 23969 41147) NA 26 90 0 0 0.003954 0 0 MARCO 8685 broad.mit.edu 37 2 119727850 119727850 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:119727850C>A uc002tln.1 + 3 492 c.360C>A c.(358-360)CTC>CTA p.L120L MARCO_uc010yyf.1_Silent_p.L42L NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 120 Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 AGGCCCAACTCACCTGGGTCC 0.612 GBM(8;18 374 7467 11269 32796) NA 17 77 5.3912e-06 5.97506e-06 0.006122 1 0 MARCO 8685 broad.mit.edu 37 2 119749443 119749443 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:119749443G>T uc002tln.1 + 14 1331 c.1199G>T c.(1198-1200)GGA>GTA p.G400V MARCO_uc010yyf.1_Missense_Mutation_p.G322V NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 400 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 GGAGACCAGGGAGTGAAAGGT 0.547 GBM(8;18 374 7467 11269 32796) NA 11 16 5.50884e-06 6.07978e-06 0.001368 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125281944 125281944 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:125281944G>T uc002tno.2 + 9 1753 c.1389G>T c.(1387-1389)ACG>ACT p.T463T CNTNAP5_uc010flu.2_Silent_p.T464T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 463 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ACCGCATCACGCTCACTCTGG 0.493 NA 23 77 3.62473e-10 4.51944e-10 0.001882 1 0 GPR148 344561 broad.mit.edu 37 2 131487640 131487640 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:131487640G>T uc002trv.1 + 1 918 c.916G>T c.(916-918)GAG>TAG p.E306* NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 306 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) AGCTAACAGTGAGGTACTCAT 0.597 NA 16 126 2.35188e-11 3.10433e-11 0.006122 1 0 FAM123C 205147 broad.mit.edu 37 2 131520903 131520903 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:131520903G>T uc002trw.2 + 2 1448 c.1258G>T c.(1258-1260)GAC>TAC p.D420Y FAM123C_uc010fmv.2_Missense_Mutation_p.D420Y|FAM123C_uc010fms.1_Missense_Mutation_p.D420Y|FAM123C_uc010fmt.1_Missense_Mutation_p.D420Y|FAM123C_uc010fmu.1_Missense_Mutation_p.D420Y NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 420 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CTACAGTGGGGACGCCCTCTA 0.622 NA 18 66 2.21704e-12 3.07575e-12 0.00278 1 0 LRP1B 53353 broad.mit.edu 37 2 140995750 140995750 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:140995750C>A uc002tvj.1 - 89 14503 c.13531G>T c.(13531-13533)GAT>TAT p.D4511Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4511 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGCCAGGATCTAAAAGACCT 0.373 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 30 95 6.38683e-12 8.66235e-12 0.008361 1 0 LRP1B 53353 broad.mit.edu 37 2 141459809 141459809 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:141459809T>C uc002tvj.1 - 39 7175 c.6203A>G c.(6202-6204)GAC>GGC p.D2068G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2068 Extracellular (Potential).|LDL-receptor class B 22. 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) AGTCTCAAGGTCGATTCTCTC 0.413 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 43 95 0 0 0.00361 0 0 ZEB2 9839 broad.mit.edu 37 2 145274897 145274897 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:145274897C>A uc002tvu.2 - 2 501 c.21G>T c.(19-21)GCG>GCT p.A7A ZEB2_uc002tvv.2_Silent_p.A2A|ZEB2_uc010zbm.1_Silent_p.A2A|ZEB2_uc010fnp.2_Silent_p.A2A|ZEB2_uc010fnq.1_Silent_p.A36A|ZEB2_uc002tvw.2_Silent_p.A2A|ZEB2_uc002tvx.1_RNA|ZEB2_uc002tvy.2_Silent_p.A36A|ZEB2_uc002tvz.2_RNA|ZEB2_uc002twa.2_RNA NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 7 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GGGGGCCATCCGCCATGATCG 0.587 Melanoma(33;1235 1264 5755 16332) NA 12 77 0.00010058 0.00010754 0.001368 1 0 NEB 4703 broad.mit.edu 37 2 152566225 152566225 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:152566225T>A uc010fnx.2 - 12 1171 c.980A>T c.(979-981)CAG>CTG p.Q327L NEB_uc010fny.1_5'Flank NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 327 Nebulin 8. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTTTCGGTCTGCATGAAGTA 0.398 NA 4 16 0 0 0.009096 0 0 BAZ2B 29994 broad.mit.edu 37 2 160229615 160229615 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:160229615C>G uc002uao.2 - 27 4506 c.4154G>C c.(4153-4155)CGG>CCG p.R1385P BAZ2B_uc002uap.2_Missense_Mutation_p.R1349P NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 AATCCAGTACCGGCGTCTGTA 0.428 NA 12 85 0 0 0.00245 0 0 BAZ2B 29994 broad.mit.edu 37 2 160294973 160294973 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:160294973C>A uc002uao.2 - 8 1486 c.1134G>T c.(1132-1134)ACG>ACT p.T378T BAZ2B_uc002uap.2_Silent_p.T376T|BAZ2B_uc002uas.1_Silent_p.T315T|BAZ2B_uc002uau.1_Silent_p.T376T|BAZ2B_uc002uaq.1_Silent_p.T306T|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Silent_p.T376T NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 ACACCAATCCCGTAGACTGTA 0.408 NA 18 142 7.05477e-17 1.08366e-16 0.00499 1 0 LY75 4065 broad.mit.edu 37 2 160741774 160741774 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:160741774G>A uc002ubc.3 - 6 1013 c.944C>T c.(943-945)TCC>TTC p.S315F LY75_uc002ubb.3_Missense_Mutation_p.S315F|LY75_uc010fos.2_Missense_Mutation_p.S315F|LY75_uc010fot.1_Missense_Mutation_p.S315F NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 315 Extracellular (Potential).|C-type lectin 1. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TGCACAGCTGGAGCCACCTAT 0.448 NA 34 117 0 0 0.005524 0 0 SLC4A10 57282 broad.mit.edu 37 2 162661084 162661084 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:162661084G>T uc002ubx.3 + 3 440 c.256G>T c.(256-258)GGA>TGA p.G86* SLC4A10_uc010fpa.1_Nonsense_Mutation_p.G98*|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Nonsense_Mutation_p.G86*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.G97* NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 86 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 ATTAGAGGATGGAAGGGAGTC 0.378 NA 3 32 0.004672 0.00481247 0.004672 1 0 SCN2A 6326 broad.mit.edu 37 2 166198918 166198918 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:166198918G>T uc002udc.2 + 15 2791 c.2501G>T c.(2500-2502)AGT>ATT p.S834I SCN2A_uc002udd.2_Missense_Mutation_p.S834I|SCN2A_uc002ude.2_Missense_Mutation_p.S834I NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 834 II.|Helical; Name=S3 of repeat II; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GTGAGCCTTAGTTTAATGGAA 0.358 NA 43 128 6.68952e-21 1.10976e-20 0.003214 1 0 B3GALT1 8708 broad.mit.edu 37 2 168726315 168726315 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:168726315C>A uc002udz.1 + 2 1117 c.766C>A c.(766-768)CTC>ATC p.L256I NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 256 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 CAAGACCTCACTCCACACAAG 0.488 NA 46 84 9.84934e-19 1.57111e-18 0.002522 1 0 MYO3B 140469 broad.mit.edu 37 2 171509600 171509600 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:171509600C>A uc002ufy.2 + 35 4138 c.3995C>A c.(3994-3996)TCC>TAC p.S1332Y MYO3B_uc002ufz.2_Missense_Mutation_p.S1305Y|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA|uc002ugc.1_Intron NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 1332 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 TTTTCTTCATCCTCAAAAGGA 0.418 NA 18 150 1.56452e-12 2.17817e-12 0.007413 1 0 RBM45 129831 broad.mit.edu 37 2 178977516 178977516 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:178977516G>T uc002ulv.2 + 1 335 c.243G>T c.(241-243)AGG>AGT p.R81S NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 81 RRM 1. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) AGGCCTGCAGGGCCATGGAGG 0.652 NA 25 79 1.77063e-15 2.63754e-15 0.005443 1 0 TTN 7273 broad.mit.edu 37 2 179427841 179427841 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:179427841G>A uc010zfg.1 - 275 75538 c.75314C>T c.(75313-75315)CCA>CTA p.P25105L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18800L|TTN_uc010zfi.1_Missense_Mutation_p.P18733L|TTN_uc010zfj.1_Missense_Mutation_p.P18608L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26032 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) TTCTATTTCTGGTGGCTCTAT 0.463 NA 72 224 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179433781 179433781 + Missense_Mutation SNP A A C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:179433781A>C uc010zfg.1 - 275 69598 c.69374T>G c.(69373-69375)ATT>AGT p.I23125S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16820S|TTN_uc010zfi.1_Missense_Mutation_p.I16753S|TTN_uc010zfj.1_Missense_Mutation_p.I16628S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24052 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) TGCAACCTTAATTGGATCAGC 0.443 NA 48 136 0 0 0.003214 0 0 TTN 7273 broad.mit.edu 37 2 179452755 179452755 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:179452755G>C uc010zfg.1 - 254 55899 c.55675C>G c.(55675-55677)CGC>GGC p.R18559G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12254G|TTN_uc010zfi.1_Missense_Mutation_p.R12187G|TTN_uc010zfj.1_Missense_Mutation_p.R12062G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19486 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) AATTCCTTGCGTACAAGCTGT 0.473 NA 8 62 0 0 0.00308 0 0 TTN 7273 broad.mit.edu 37 2 179565924 179565924 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:179565924G>T uc010zfg.1 - 108 27097 c.26873C>A c.(26872-26874)CCT>CAT p.P8958H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5619H|TTN_uc010fre.1_Missense_Mutation_p.P69H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9885 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) AACCACAGGAGGGATTTCTGA 0.368 NA 48 141 6.31075e-24 1.09535e-23 0.00361 1 0 TTN 7273 broad.mit.edu 37 2 179567349 179567349 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:179567349C>A uc010zfg.1 - 104 26757 c.26533G>T c.(26533-26535)GTG>TTG p.V8845L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5506L|TTN_uc010fre.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9772 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) TGCTCACTCACCACGATGTTC 0.403 NA 39 96 8.73648e-17 1.33937e-16 0.004289 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803686 185803686 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:185803686C>A uc002uph.2 + 4 4157 c.3563C>A c.(3562-3564)CCC>CAC p.P1188H NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1188 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CCATCTTTACCCCATGCACTC 0.473 NA 37 288 1.26612e-14 1.85446e-14 0.003271 1 0 COL3A1 1281 broad.mit.edu 37 2 189859297 189859297 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:189859297G>T uc002uqj.1 + 19 1441 c.1324G>T c.(1324-1326)GAG>TAG p.E442* NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 442 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGCCAAAGGAGAGCCCGGACC 0.398 NA 16 69 3.41278e-10 4.27547e-10 0.00499 1 0 COL5A2 1290 broad.mit.edu 37 2 189929366 189929366 + Silent SNP G G T rs145258293 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:189929366G>T uc002uqk.2 - 25 1908 c.1633C>A c.(1633-1635)CGG>AGG p.R545R COL5A2_uc010frx.2_Silent_p.R121R NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 545 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACAGGACCCCGTTCTCCTTGA 0.478 NA 17 102 3.52763e-06 3.92623e-06 0.00499 1 0 Unknown 0 broad.mit.edu 37 2 190788271 190788271 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:190788271G>A uc002uro.2 + 1 353 c.210G>A c.(208-210)GAG>GAA p.E70E SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C; NA TAGCAGGAGAGGATGGCAGAA 0.478 NA 36 78 0 0 0.004878 0 0 SF3B1 23451 broad.mit.edu 37 2 198265001 198265001 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:198265001G>A uc002uue.2 - 19 2924 c.2876C>T c.(2875-2877)GCT>GTT p.A959V NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 959 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) CATGACAACAGCAGTTCGAGA 0.348 NA 42 100 0 0 0.007835 0 0 SATB2 23314 broad.mit.edu 37 2 200298195 200298195 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:200298195C>A uc002uuy.1 - 3 1029 c.212G>T c.(211-213)GGC>GTC p.G71V SATB2_uc010fsq.1_Missense_Mutation_p.G71V|SATB2_uc002uuz.1_Missense_Mutation_p.G71V|SATB2_uc002uva.1_Missense_Mutation_p.G71V NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 71 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TTCAAGAGAGCCGTCCAACTG 0.473 Colon(30;262 767 11040 24421 36230) NA 36 120 4.65686e-17 7.18123e-17 0.003755 1 0 DYTN 391475 broad.mit.edu 37 2 207528121 207528121 + Splice_Site SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:207528121T>A uc002vbr.1 - 11 1258 c.1141_splice c.e11-1 p.A381_splice NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CAACCTTGCCTGGGGAAACAA 0.378 NA 12 32 0 0 0.001368 0 0 ACADL 33 broad.mit.edu 37 2 211085421 211085421 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:211085421C>G uc002vdz.3 - 2 411 c.183G>C c.(181-183)CGG>CGC p.R61R ACADL_uc010zjg.1_Silent_p.R61R NM_001608 NP_001599 P28330 ACADL_HUMAN long-chain acyl-CoA dehydrogenase precursor 61 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity 0 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) TTACACTTTTCCGGAAAATGT 0.383 NA 36 92 0 0 0.003755 0 0 ZFAND2B 130617 broad.mit.edu 37 2 220073185 220073185 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:220073185G>A uc002vka.2 + 6 737 c.565G>A c.(565-567)GTG>ATG p.V189M ZFAND2B_uc010zkt.1_Missense_Mutation_p.V189M|ZFAND2B_uc010fwd.1_3'UTR|ZFAND2B_uc002vjy.1_Missense_Mutation_p.V189M|ZFAND2B_uc002vjz.1_3'UTR|ZFAND2B_uc002vkb.1_Missense_Mutation_p.V80M NM_138802 NP_620157 Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B 189 endoplasmic reticulum protein binding|zinc ion binding 0 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCCCCTCCAGTGATTGCTTT 0.542 NA 21 151 0 0 0.002299 0 0 WDR69 164781 broad.mit.edu 37 2 228771916 228771916 + Silent SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:228771916A>T uc002vpn.1 + 10 1000 c.921A>T c.(919-921)CTA>CTT p.L307L WDR69_uc010zlw.1_Silent_p.L292L|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 307 WD 6. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) ATGAAATACTAGACAGCTGCT 0.353 NA 7 45 0 0 0.004482 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886442 228886442 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:228886442C>A uc002vpq.2 - 6 729 c.682G>T c.(682-684)GAT>TAT p.D228Y SPHKAP_uc002vpp.2_Missense_Mutation_p.D228Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.D228Y NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 228 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTAGATTCATCCACCTCGCTT 0.443 NA 32 79 3.99451e-17 6.18403e-17 0.009535 1 0 GPR55 9290 broad.mit.edu 37 2 231775240 231775240 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:231775240C>A uc002vrg.2 - 2 631 c.438G>T c.(436-438)TGG>TGT p.W146C GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.W146C NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 146 Helical; Name=4; (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) ACACCAGGACCCAGATGGTGC 0.542 NA 43 98 1.57019e-19 2.53548e-19 0.007835 1 0 C2orf57 165100 broad.mit.edu 37 2 232457748 232457748 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:232457748C>G uc002vrz.2 + 1 137 c.86C>G c.(85-87)CCA>CGA p.P29R NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 29 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) GGTCAGGTCCCACTCACAGCA 0.607 NA 27 137 0 0 0.005443 0 0 CHRNG 1146 broad.mit.edu 37 2 233406159 233406159 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:233406159G>A uc002vsx.1 + 5 447 c.426G>A c.(424-426)CCG>CCA p.P142P CHRNG_uc010fyd.2_Silent_p.P142P|CHRNG_uc010fye.1_Intron NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 142 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) ACTGGCTGCCGCCTGCCATCT 0.577 NA 20 110 0 0 0.00333 0 0 HJURP 55355 broad.mit.edu 37 2 234750371 234750372 + Missense_Mutation DNP CC CC AA TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:234750371_234750372CC>AA uc002vvg.2 - 8 1120_1121 c.1054_1055GG>TT c.(1054-1056)GGT>TTT p.G352F HJURP_uc010znd.1_Missense_Mutation_p.G291F|HJURP_uc010zne.1_Missense_Mutation_p.G260F NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 352 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CAATTTTAAACCTGTCTTACGG 0.436 NA 8 79 0 0 0.004672 0 0 PER2 8864 broad.mit.edu 37 2 239164502 239164502 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:239164502C>A uc002vyc.2 - 18 2353 c.2116G>T c.(2116-2118)GGC>TGC p.G706C PER2_uc010znv.1_Missense_Mutation_p.G706C NM_022817 NP_073728 O15055 PER2_HUMAN period 2 706 CSNK1E binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) AGGGCAGGGCCCGCCAGGCAG 0.587 NA 36 185 2.75727e-19 4.42511e-19 0.004878 1 0 FARP2 9855 broad.mit.edu 37 2 242402803 242402803 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr2:242402803G>T uc002wbi.1 + 16 1848 c.1731G>T c.(1729-1731)ACG>ACT p.T577T FARP2_uc010zoq.1_Silent_p.T577T|FARP2_uc010zor.1_Silent_p.T577T NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 577 DH. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CTCTGATGACGCTGCTCTTCT 0.597 NA 25 76 4.16121e-05 4.48568e-05 0.00278 1 0 PROKR2 128674 broad.mit.edu 37 20 5294629 5294629 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:5294629G>T uc010zqw.1 - 1 387 c.387C>A c.(385-387)GCC>GCA p.A129A PROKR2_uc010zqx.1_Silent_p.A129A|PROKR2_uc010zqy.1_Silent_p.A129A|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 129 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 AGTTGACGGAGGCACAGAGCA 0.607 NA HNSCC(71;0.22) 18 44 9.16793e-09 1.0946e-08 0.00499 1 0 SEL1L2 80343 broad.mit.edu 37 20 13912364 13912364 + Silent SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:13912364T>A uc010gcf.2 - 3 250 c.168A>T c.(166-168)ACA>ACT p.T56T SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Silent_p.T56T|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 56 Extracellular (Potential). integral to membrane binding ovary(2) 2 CATTACTAGATGTTCTTTGTT 0.279 NA 20 56 0 0 0.007413 0 0 C20orf26 26074 broad.mit.edu 37 20 20269349 20269349 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:20269349A>G uc002wru.2 + 23 2969 c.2893A>G c.(2893-2895)ACC>GCC p.T965A C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 965 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TGTGATTGATACCAACTTCCA 0.433 NA 58 157 0 0 0.00361 0 0 NAPB 63908 broad.mit.edu 37 20 23370621 23370621 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:23370621G>C uc002wta.2 - 7 640 c.523C>G c.(523-525)CTT>GTT p.L175V NAPB_uc002wtc.2_Missense_Mutation_p.L81V|NAPB_uc002wtb.2_Missense_Mutation_p.L179V|NAPB_uc002wtd.3_RNA|NAPB_uc010zss.1_Missense_Mutation_p.L62V|NAPB_uc010zst.1_Missense_Mutation_p.L136V NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 175 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) TACTGCTCAAGCTGGGCAGCA 0.398 NA 20 104 0 0 0.001882 0 0 AHCY 191 broad.mit.edu 37 20 32878562 32878562 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:32878562G>A uc002xai.2 - 6 880 c.741C>T c.(739-741)ATC>ATT p.I247I AHCY_uc002xaj.2_Silent_p.I219I NM_000687 NP_000678 P23526 SAHH_HUMAN adenosylhomocysteinase isoform 1 247 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding 0 GCAGTGCGTTGATGGGGTCAA 0.632 NA 67 186 0 0 0.00361 0 0 PLCG1 5335 broad.mit.edu 37 20 39801184 39801184 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:39801184G>T uc002xjp.1 + 26 3150 c.3029G>T c.(3028-3030)CGC>CTC p.R1010L PLCG1_uc002xjo.1_Missense_Mutation_p.R1010L|PLCG1_uc010zwe.1_Missense_Mutation_p.R636L NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 1010 PI-PLC Y-box. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) CAGCTCTCCCGCATCTACCCC 0.542 NA 6 47 0.00116845 0.00122601 0.001168 1 0 LPIN3 64900 broad.mit.edu 37 20 39985681 39985681 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:39985681G>T uc002xjx.2 + 15 1896 c.1805G>T c.(1804-1806)CGG>CTG p.R602L LPIN3_uc010ggh.2_Missense_Mutation_p.R603L|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 602 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) TGGCCTCAGCGGCGCCTGAAC 0.612 NA 14 62 0.000422831 0.000450258 0.004007 1 0 SGK2 10110 broad.mit.edu 37 20 42199282 42199282 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:42199282G>A uc002xkv.2 + 6 785 c.566G>A c.(565-567)CGC>CAC p.R189H SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.R129H|SGK2_uc010ggm.2_Missense_Mutation_p.R129H|SGK2_uc002xks.2_Missense_Mutation_p.R128H|SGK2_uc002xku.2_Missense_Mutation_p.R129H NM_016276 NP_057360 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 isoform 189 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 6 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CAGCGGGAGCGCCGGTTCCTG 0.637 NA 19 111 0 0 0.008871 0 0 NCOA3 8202 broad.mit.edu 37 20 46268485 46268485 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:46268485A>G uc002xtk.2 + 15 3077 c.2872A>G c.(2872-2874)ATT>GTT p.I958V NCOA3_uc010ght.1_Missense_Mutation_p.I953V|NCOA3_uc002xtl.2_Missense_Mutation_p.I958V|NCOA3_uc002xtm.2_Missense_Mutation_p.I958V|NCOA3_uc002xtn.2_Missense_Mutation_p.I958V|NCOA3_uc010zyc.1_Missense_Mutation_p.I753V NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 958 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 GGGTGGCTCTATTCCCACATT 0.493 NA 78 179 0 0 0.00361 0 0 SULF2 55959 broad.mit.edu 37 20 46313275 46313275 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:46313275C>A uc002xto.2 - 6 1118 c.788G>T c.(787-789)CGC>CTC p.R263L SULF2_uc002xtr.2_Missense_Mutation_p.R263L|SULF2_uc002xtq.2_Missense_Mutation_p.R263L NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 263 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 ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCCCGTGTAGCGCATGATCCA 0.597 NA 19 54 1.50039e-11 1.99377e-11 0.001882 1 0 PREX1 57580 broad.mit.edu 37 20 47364417 47364417 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:47364417C>A uc002xtw.1 - 2 243 c.220G>T c.(220-222)GCA>TCA p.A74S NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 74 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGCAGGAATGCCTGGAGGAGA 0.592 NA 7 22 8.12818e-05 8.70246e-05 0.001984 1 0 SLC9A8 23315 broad.mit.edu 37 20 48504417 48504417 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:48504417G>T uc002xuv.1 + 16 1900 c.1690G>T c.(1690-1692)GAG>TAG p.E564* SLC9A8_uc010zym.1_Nonsense_Mutation_p.E264*|SLC9A8_uc010gid.2_Nonsense_Mutation_p.E188* NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 564 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CAAGTGGTACGAGGAGGTACG 0.657 NA 41 90 4.67007e-22 7.88011e-22 0.00874 1 0 KCNG1 3755 broad.mit.edu 37 20 49626742 49626742 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:49626742C>A uc002xwa.3 - 2 429 c.134G>T c.(133-135)CGG>CTG p.R45L KCNG1_uc002xwb.2_Missense_Mutation_p.R45L NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 45 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 CGGCCGCAGCCGCTGCGCCCG 0.706 NA 16 21 5.03518e-11 6.56908e-11 0.007413 1 0 SALL4 57167 broad.mit.edu 37 20 50407691 50407691 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:50407691T>A uc002xwh.3 - 2 1432 c.1331A>T c.(1330-1332)GAG>GTG p.E444V SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 444 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GTCCTGGAACTCGGCAAACAG 0.552 NA 47 77 0 0 0.00361 0 0 CTCFL 140690 broad.mit.edu 37 20 56078492 56078492 + Nonsense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:56078492C>A uc010gix.1 - 9 2502 c.1840G>T c.(1840-1842)GAA>TAA p.E614* CTCFL_uc010giw.1_Nonsense_Mutation_p.E614*|CTCFL_uc002xym.2_Nonsense_Mutation_p.E614*|CTCFL_uc010giz.1_Nonsense_Mutation_p.E202*|CTCFL_uc010giy.1_Nonsense_Mutation_p.E284*|CTCFL_uc010gja.1_Nonsense_Mutation_p.E564*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gje.2_Missense_Mutation_p.G614C|CTCFL_uc010gjf.2_Missense_Mutation_p.G409C|CTCFL_uc010gjg.2_Missense_Mutation_p.G346C|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_RNA NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 614 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) AAATCAGTACCGTCTCCGTTC 0.512 NA 56 134 8.72158e-25 1.53065e-24 0.00361 1 0 PMEPA1 56937 broad.mit.edu 37 20 56227123 56227123 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:56227123C>T uc002xyq.2 - 4 1243 c.850G>A c.(850-852)GGA>AGA p.G284R PMEPA1_uc002xyr.2_Missense_Mutation_p.G234R|PMEPA1_uc002xys.2_Missense_Mutation_p.G249R|PMEPA1_uc002xyt.2_Missense_Mutation_p.G234R NM_020182 NP_064567 Q969W9 PMEPA_HUMAN transmembrane prostate androgen-induced protein 284 Cytoplasmic (Potential). androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding pancreas(1) 1 AGAGGGTGTCCTTTCTGTTTA 0.627 NA 3 12 0 0 0.004672 0 0 CDH26 60437 broad.mit.edu 37 20 58567503 58567503 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:58567503G>T uc002ybe.2 + 10 1654 c.1354G>T c.(1354-1356)GAG>TAG p.E452* CDH26_uc002ybf.1_Nonsense_Mutation_p.E32*|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_5'Flank NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 452 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CATCACCGTGGAGCCAATTGA 0.413 NA 14 72 4.14922e-12 5.66652e-12 0.004007 1 0 LAMA5 3911 broad.mit.edu 37 20 60888802 60888802 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:60888802G>C uc002ycq.2 - 63 8628 c.8561C>G c.(8560-8562)ACC>AGC p.T2854S NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2854 Laminin G-like 1. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCACCCTTGGTTTCCTGGAT 0.507 NA 51 126 0 0 0.00361 0 0 NTSR1 4923 broad.mit.edu 37 20 61386223 61386223 + Missense_Mutation SNP G G T rs148569146 byFrequency TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:61386223G>T uc002ydf.2 + 2 1272 c.901G>T c.(901-903)GGC>TGC p.G301C NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 301 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CCTGCGGCACGGCGTGCGCGT 0.706 GBM(37;400 780 6403 19663 35669) NA 18 32 1.67942e-08 1.99004e-08 0.006122 1 0 COL9A3 1299 broad.mit.edu 37 20 61453144 61453144 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:61453144C>A uc002ydm.2 + 8 408 c.405C>A c.(403-405)ATC>ATA p.I135I NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 135 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) CAGGTGGGATCGGCCTCCGCG 0.697 NA 6 29 0.00116845 0.00122601 0.001168 1 0 CHRNA4 1137 broad.mit.edu 37 20 61982276 61982276 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:61982276T>C uc002yes.2 - 5 665 c.487A>G c.(487-489)ATC>GTC p.I163V CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.I92V|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 163 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GTGACGTCGATGCTGCAGGAG 0.597 NA 27 137 0 0 0.004656 0 0 KCNQ2 3785 broad.mit.edu 37 20 62044883 62044883 + Silent SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:62044883G>C uc002yey.1 - 15 1860 c.1683C>G c.(1681-1683)CCC>CCG p.P561P KCNQ2_uc002yez.1_Silent_p.P530P|KCNQ2_uc002yfa.1_Silent_p.P543P|KCNQ2_uc002yfb.1_Silent_p.P533P NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 561 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TCACGTCGTAGGGCCGCAGGC 0.652 NA 63 169 0 0 0.00361 0 0 KCNQ2 3785 broad.mit.edu 37 20 62073809 62073809 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:62073809C>A uc002yey.1 - 5 943 c.766G>T c.(766-768)GGG>TGG p.G256W KCNQ2_uc002yez.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfa.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfb.1_Missense_Mutation_p.G256W|KCNQ2_uc011aax.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfc.1_Missense_Mutation_p.G256W NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 256 Extracellular (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TCGTTCTCCCCCTTCTCTGCC 0.572 NA 117 300 9.93988e-36 1.93877e-35 0.00361 1 0 MRPL39 54148 broad.mit.edu 37 21 26969716 26969716 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr21:26969716C>A uc002ylo.2 - 6 613 c.599G>T c.(598-600)CGT>CTT p.R200L MRPL39_uc002yln.2_Missense_Mutation_p.R200L NM_017446 NP_059142 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 isoform a 200 mitochondrial ribosome nucleotide binding 0 TGTGAAGGAACGTAAGTTCTC 0.328 NA 10 15 4.68919e-08 5.47419e-08 0.008291 1 0 JAM2 58494 broad.mit.edu 37 21 27062220 27062220 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr21:27062220C>A uc002ylp.1 + 3 721 c.176C>A c.(175-177)TCC>TAC p.S59Y JAM2_uc011ace.1_Missense_Mutation_p.S59Y|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Intron|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.S59Y|JAM2_uc010gli.1_Missense_Mutation_p.S59Y NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 59 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 ACTGTTTCCTCCAGATTAGAG 0.403 NA 43 170 5.48756e-27 9.89519e-27 0.002852 1 0 ADAMTS1 9510 broad.mit.edu 37 21 28209990 28209990 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr21:28209990G>A uc002ymf.2 - 9 3267 c.2812C>T c.(2812-2814)CAT>TAT p.H938Y NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 938 TSP type-1 3. 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) CCTCCATCATGGGACAGACAC 0.458 NA 34 129 0 0 0.002096 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296585 28296585 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr21:28296585G>A uc002ymg.2 - 8 3309 c.2580C>T c.(2578-2580)AAC>AAT p.N860N NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 860 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TAGTGACAGAGTTTACTTTTG 0.483 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 47 128 0 0 0.002522 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768509 31768509 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr21:31768509C>T uc002yoa.2 + 1 118 c.105C>T c.(103-105)GTC>GTT p.V35V NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 35 intermediate filament ovary(1) 1 GCAACCAGGTCTACAGCACTG 0.602 NA 42 133 0 0 0.009718 0 0 KRTAP19-6 337973 broad.mit.edu 37 21 31914063 31914063 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr21:31914063G>T uc002yok.1 - 1 119 c.90C>A c.(88-90)TAC>TAA p.Y30* NM_181612 NP_853643 Q3LI70 KR196_HUMAN keratin associated protein 19-6 30 intermediate filament 0 AGCCATATCTGTAGCCTCCAC 0.512 NA 39 116 5.82218e-30 1.08976e-29 0.00361 1 0 TIAM1 7074 broad.mit.edu 37 21 32525054 32525054 + Missense_Mutation SNP G G A rs148623159 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr21:32525054G>A uc002yow.1 - 20 3738 c.3266C>T c.(3265-3267)ACG>ATG p.T1089M TIAM1_uc011adk.1_Missense_Mutation_p.T1089M|TIAM1_uc011adl.1_Missense_Mutation_p.T1029M NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1089 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TACCATTTCCGTTAAATTTCC 0.333 NA 7 55 0 0 0.001984 0 0 PCBP3 54039 broad.mit.edu 37 21 47360037 47360037 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr21:47360037G>A uc002zhq.1 + 13 1128 c.1003G>A c.(1003-1005)GGG>AGG p.G335R PCBP3_uc002zhp.1_Missense_Mutation_p.G315R|PCBP3_uc002zhs.1_Missense_Mutation_p.G309R|PCBP3_uc002zhr.1_Missense_Mutation_p.G334R|PCBP3_uc002zht.1_Missense_Mutation_p.G325R NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 335 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CGCCACGGAAGGGTCCTCAGA 0.527 NA 44 85 0 0 0.002522 0 0 KLHL22 84861 broad.mit.edu 37 22 20812279 20812279 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr22:20812279G>A uc002zsl.1 - 5 1230 c.1121C>T c.(1120-1122)CCA>CTA p.P374L KLHL22_uc011ahr.1_Missense_Mutation_p.P231L|KLHL22_uc002zsm.1_Missense_Mutation_p.P374L NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 374 Kelch 2. cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GTTGTGCCGTGGGTCATACCT 0.597 NA 17 29 0 0 0.00499 0 0 PIWIL3 440822 broad.mit.edu 37 22 25145401 25145401 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr22:25145401G>A uc003abd.1 - 11 1721 c.1304C>T c.(1303-1305)ACA>ATA p.T435I PIWIL3_uc011ajx.1_Missense_Mutation_p.T326I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T326I|PIWIL3_uc010gut.1_Missense_Mutation_p.T435I NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 435 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 TTCTTTTAATGTATGATGCCT 0.363 NA 21 86 0 0 0.001882 0 0 CHL1 10752 broad.mit.edu 37 3 382518 382518 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:382518G>T uc003bou.2 + 6 698 c.427G>T c.(427-429)GTG>TTG p.V143L CHL1_uc003bot.2_Missense_Mutation_p.V143L|CHL1_uc003bow.1_Missense_Mutation_p.V143L|CHL1_uc011asi.1_Missense_Mutation_p.V143L NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 143 Ig-like C2-type 2.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CCCTCTTGAAGTGGAGGAGGG 0.368 NA 19 41 1.56452e-12 2.17817e-12 0.007413 1 0 ITPR1 3708 broad.mit.edu 37 3 4718485 4718485 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:4718485G>T uc003bqa.2 + 24 3288 c.2940G>T c.(2938-2940)CAG>CAT p.Q980H ITPR1_uc010hca.1_Missense_Mutation_p.Q965H|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.Q974H NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 989 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGATACTCCAGGTATCCACTA 0.547 NA 9 26 0.000274275 0.000292461 0.004482 1 0 TBC1D5 9779 broad.mit.edu 37 3 17208408 17208408 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:17208408G>T uc003cbf.2 - 21 3610 c.1945C>A c.(1945-1947)CTA>ATA p.L649I TBC1D5_uc010heu.2_Missense_Mutation_p.L236I|TBC1D5_uc010hev.2_Missense_Mutation_p.L671I|TBC1D5_uc003cbe.2_Missense_Mutation_p.L649I NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 649 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 GAACCTTTTAGAATGTCTTTG 0.423 NA 17 31 1.15088e-07 1.32393e-07 0.004007 1 0 TRAK1 22906 broad.mit.edu 37 3 42166916 42166916 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:42166916G>T uc003cky.2 + 2 312 c.96G>T c.(94-96)GTG>GTT p.V32V TRAK1_uc011azh.1_Silent_p.V32V|TRAK1_uc011azi.1_Silent_p.V32V NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 32 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CTTTAGATGTGTGCAACAGCA 0.488 GBM(44;195 884 22595 31865 41850) NA 18 35 0.00074312 0.000786012 0.006122 1 0 CCDC13 152206 broad.mit.edu 37 3 42799619 42799619 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:42799619C>A uc003cly.3 - 2 303 c.219G>T c.(217-219)AAG>AAT p.K73N CCDC13_uc003clz.2_Missense_Mutation_p.K73N|CCDC13_uc011azq.1_Missense_Mutation_p.K73N NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 73 Potential. ovary(1) 1 GCATTTACCTCTTCTCAAAGC 0.363 NA 20 43 3.51602e-12 4.85223e-12 0.008871 1 0 DHX30 22907 broad.mit.edu 37 3 47882439 47882439 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:47882439G>T uc003cru.2 + 7 865 c.439G>T c.(439-441)GGC>TGC p.G147C DHX30_uc003crs.2_Missense_Mutation_p.G108C|DHX30_uc003crt.2_Missense_Mutation_p.G108C|DHX30_uc010hjr.1_Missense_Mutation_p.G175C NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 147 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TGATCGCTTTGGCTCCCCTGC 0.602 NA 30 43 1.88708e-17 2.9622e-17 0.008361 1 0 GBE1 2632 broad.mit.edu 37 3 81586172 81586172 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:81586172G>A uc003dqg.2 - 14 1976 c.1693C>T c.(1693-1695)CGG>TGG p.R565W GBE1_uc011bgm.1_Missense_Mutation_p.R524W NM_000158 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 565 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(3) 3 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) TGAAACTGCCGCCTGGCATAA 0.383 NA Glycogen_Storage_Disease_type_IV 14 33 0 0 0.001855 0 0 EPHA3 2042 broad.mit.edu 37 3 89480412 89480412 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:89480412G>T uc003dqy.2 + 13 2474 c.2249G>T c.(2248-2250)CGG>CTG p.R750L EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 750 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTCGCTGCTCGGAACATCTTG 0.488 NA TSP Lung(6;0.00050) 19 36 1.67942e-08 1.99004e-08 0.006122 1 0 OR5H1 26341 broad.mit.edu 37 3 97851886 97851886 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:97851886G>T uc011bgt.1 + 1 345 c.345G>T c.(343-345)TTG>TTT p.L115F NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GTTTTCTCTTGGCAACGATGG 0.383 NA 67 217 2.3441e-25 4.16025e-25 0.00361 1 0 ST3GAL6 10402 broad.mit.edu 37 3 98503797 98503797 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:98503797G>T uc003dsz.2 + 6 580 c.344G>T c.(343-345)TGT>TTT p.C115F ST3GAL6_uc003dsy.2_Missense_Mutation_p.C29F|ST3GAL6_uc003dta.2_Intron|ST3GAL6_uc003dtb.2_5'UTR|ST3GAL6_uc003dtc.2_Missense_Mutation_p.C115F|ST3GAL6_uc010hpd.2_Missense_Mutation_p.C168F NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 115 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 AGCATACCCTGTAAAAAGTGT 0.368 NA 30 83 2.2171e-23 3.80627e-23 0.009535 1 0 TBC1D23 55773 broad.mit.edu 37 3 100002603 100002603 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:100002603C>A uc003dtt.2 + 4 601 c.424C>A c.(424-426)CGC>AGC p.R142S TBC1D23_uc003dts.2_Missense_Mutation_p.R142S NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 142 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 TCAACTGCCACGCAGCGATTT 0.338 NA 15 93 1.67942e-08 1.99004e-08 0.006122 1 0 ALCAM 214 broad.mit.edu 37 3 105271017 105271017 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:105271017G>C uc003dvx.2 + 13 2077 c.1537G>C c.(1537-1539)GAG>CAG p.E513Q ALCAM_uc003dvw.1_Missense_Mutation_p.E513Q|ALCAM_uc003dvy.2_Intron|ALCAM_uc010hpp.2_Missense_Mutation_p.E235Q|ALCAM_uc003dvz.2_Missense_Mutation_p.E147Q NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 513 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 TGAGGCAGACGAGATAAGTGG 0.338 NA 11 50 0 0 0.001368 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432892 111432892 + Missense_Mutation SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:111432892T>G uc003dya.2 + 3 1369 c.783T>G c.(781-783)CAT>CAG p.H261Q PLCXD2_uc003dyb.2_Missense_Mutation_p.H261Q|PLCXD2_uc003dxz.2_Missense_Mutation_p.H261Q NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 261 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 GCTCCTTCCATGTCTCCCAAG 0.562 NA 25 110 0 0 0.005443 0 0 SLC9A10 285335 broad.mit.edu 37 3 111870801 111870801 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:111870801G>T uc003dyu.2 - 28 3649 c.3427C>A c.(3427-3429)CAC>AAC p.H1143N SLC9A10_uc011bhu.1_Missense_Mutation_p.H406N|SLC9A10_uc010hqc.2_Missense_Mutation_p.H1095N NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 1143 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 GCGGCACTGTGTGCTCCATCC 0.383 NA 25 73 9.57634e-11 1.23707e-10 0.00333 1 0 FSTL1 11167 broad.mit.edu 37 3 120129820 120129820 + Missense_Mutation SNP C C T rs149509930 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:120129820C>T uc003eds.2 - 5 485 c.310G>A c.(310-312)GTA>ATA p.V104I FSTL1_uc011bjh.1_Missense_Mutation_p.V69I|FSTL1_uc010hrb.2_Missense_Mutation_p.V104I NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 104 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) GATGGACTTACGGATTTCTTC 0.393 NA 5 122 0 0 0.000602 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631817 122631817 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:122631817G>T uc003efz.1 - 18 2902 c.2598C>A c.(2596-2598)TCC>TCA p.S866S SEMA5B_uc011bju.1_Silent_p.S808S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.S866S|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 866 Extracellular (Potential).|TSP type-1 3. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CGCAGTCCCGGGAGCAGGACG 0.741 NA 7 33 0.00307968 0.00318894 0.00308 1 0 MUC13 56667 broad.mit.edu 37 3 124646418 124646418 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:124646418C>A uc003ehq.1 - 2 496 c.472G>T c.(472-474)GGC>TGC p.G158C NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, epithelial transmembrane 158 Thr-rich.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 AAAGCGGTGCCAGTGGGAGGC 0.473 NA 65 219 1.84395e-34 3.55265e-34 0.00361 1 0 ZXDC 79364 broad.mit.edu 37 3 126180702 126180702 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:126180702C>A uc003eiv.2 - 6 1857 c.1803G>T c.(1801-1803)GTG>GTT p.V601V ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.V601V NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 601 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) TCACAGTCTGCACGTCATCCA 0.567 NA 54 157 3.31993e-32 6.33439e-32 0.00361 1 0 UROC1 131669 broad.mit.edu 37 3 126224636 126224636 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:126224636C>T uc003eiz.1 - 8 753 c.721G>A c.(721-723)GGG>AGG p.G241R UROC1_uc010hsi.1_Missense_Mutation_p.G241R NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 241 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) AAGACCTTCCCAGCCAAGTCC 0.637 NA 16 67 0 0 0.008871 0 0 MCM2 4171 broad.mit.edu 37 3 127324962 127324962 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:127324962G>T uc003ejp.2 + 5 732 c.675G>T c.(673-675)GAG>GAT p.E225D MCM2_uc011bkm.1_Missense_Mutation_p.E95D|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.E109D NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 225 Interaction with MYST2 (By similarity). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CCCTTCTAGAGAACCGTGAGA 0.602 NA 29 83 7.01153e-11 9.08732e-11 0.007291 1 0 COL6A6 131873 broad.mit.edu 37 3 130313158 130313158 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:130313158C>A uc010htl.2 + 17 4535 c.4504C>A c.(4504-4506)CGT>AGT p.R1502S COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1502 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCCTGGTGACCGTGGAGCAAA 0.463 NA 29 101 3.73148e-12 5.12265e-12 0.007291 1 0 PIK3R4 30849 broad.mit.edu 37 3 130425910 130425910 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:130425910G>A uc003enj.2 - 11 3184 c.2603C>T c.(2602-2604)CCA>CTA p.P868L NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 868 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 CATGTTTGGTGGGTCCAGTGA 0.443 NA 15 52 0 0 0.004007 0 0 CEP63 80254 broad.mit.edu 37 3 134278166 134278166 + Silent SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:134278166T>C uc003eqo.1 + 15 2297 c.1848T>C c.(1846-1848)TCT>TCC p.S616S CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 616 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 CTTCCTACTCTCTATGTAAAA 0.438 NA 74 220 0 0 0.00361 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142537297 142537297 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:142537297G>T uc003evd.2 - 9 1324 c.1128C>A c.(1126-1128)TAC>TAA p.Y376* NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 376 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 CCATAATAATGTAATTTAGAC 0.363 NA 40 102 3.61848e-18 5.72562e-18 0.007835 1 0 SR140 23350 broad.mit.edu 37 3 142747463 142747463 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:142747463A>T uc003evh.1 + 16 1684 c.1585A>T c.(1585-1587)AGT>TGT p.S529C SR140_uc003evi.1_Missense_Mutation_p.S120C|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.S528C|SR140_uc003evl.1_Missense_Mutation_p.S96C NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 529 RNA processing nucleus nucleotide binding|RNA binding 0 AGAGGAACCTAGTAAAAAGGG 0.333 Colon(87;897 1320 15089 19747 35974) NA 24 55 0 0 0.00278 0 0 CHST2 9435 broad.mit.edu 37 3 142841221 142841221 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:142841221C>A uc003evm.2 + 2 2452 c.1563C>A c.(1561-1563)AGC>AGA p.S521R NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 521 Lumenal (Potential). S->A: No effect. inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 AAGACCTCAGCAAGACCCTGC 0.527 NA 13 37 2.61681e-11 3.43103e-11 0.00245 1 0 HPS3 84343 broad.mit.edu 37 3 148863150 148863150 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:148863150C>G uc003ewu.1 + 5 1120 c.980C>G c.(979-981)ACA>AGA p.T327R HPS3_uc003ewt.1_Missense_Mutation_p.T327R|HPS3_uc011bnq.1_Missense_Mutation_p.T162R NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 327 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GGTTCTCTTACATCTGATGGA 0.259 NA Hermansky-Pudlak_syndrome 24 87 0 0 0.003954 0 0 MED12L 116931 broad.mit.edu 37 3 151134112 151134112 + Nonsense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:151134112C>T uc003eyp.2 + 41 6243 c.6205C>T c.(6205-6207)CAG>TAG p.Q2069* MED12L_uc011bnz.1_Intron NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 2069 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Gcagcagccccagcagcccca 0.343 NA 22 41 0 0 0.002299 0 0 ZBBX 79740 broad.mit.edu 37 3 167031857 167031857 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:167031857C>A uc003fep.2 - 16 1645 c.1322G>T c.(1321-1323)GGC>GTC p.G441V ZBBX_uc011bpc.1_Missense_Mutation_p.G441V|ZBBX_uc003feq.2_Missense_Mutation_p.G412V NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 441 intracellular zinc ion binding ovary(2) 2 TTGATGGATGCCATTTTCATA 0.299 NA 23 108 6.44725e-10 7.9881e-10 0.002299 1 0 GHSR 2693 broad.mit.edu 37 3 172163026 172163026 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:172163026G>T uc003fib.1 - 2 1026 c.1026C>A c.(1024-1026)CCC>CCA p.P342P NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 342 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCTGGGAGAAGGGTTCGAATC 0.478 Esophageal Squamous(93;641 1401 20883 29581 34638) NA 59 199 2.47907e-22 4.19207e-22 0.00361 1 0 NLGN1 22871 broad.mit.edu 37 3 173525608 173525608 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:173525608G>T uc003fio.1 + 4 1055 c.632G>T c.(631-633)CGA>CTA p.R211L NLGN1_uc010hww.1_Missense_Mutation_p.R251L|NLGN1_uc003fip.1_Missense_Mutation_p.R211L NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 228 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTCAACTATCGACTTGGAGTA 0.328 NA 39 89 2.59497e-14 3.75889e-14 0.007835 1 0 KLHL6 89857 broad.mit.edu 37 3 183225911 183225911 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:183225911C>A uc003flr.2 - 3 903 c.845G>T c.(844-846)AGG>ATG p.R282M KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.R280M NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 282 haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TGGGCACTGCCTGATGAGAGG 0.537 NA 37 139 1.08052e-11 1.44804e-11 0.004289 1 0 CHRD 8646 broad.mit.edu 37 3 184104632 184104632 + Splice_Site SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:184104632G>T uc003fov.2 + 17 2443 c.2197_splice c.e17-1 p.R733_splice CHRD_uc003fow.2_Splice_Site_p.R363_splice|CHRD_uc003fox.2_Splice_Site_p.R733_splice|CHRD_uc003foy.2_Splice_Site_p.R363_splice|CHRD_uc010hyc.2_Splice_Site_p.R323_splice|CHRD_uc011brr.1_Splice_Site_p.R275_splice NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTCTCTGCAGAGACGAACGG 0.652 NA 15 71 2.23348e-06 2.49643e-06 0.004007 1 0 MAGEF1 64110 broad.mit.edu 37 3 184429233 184429233 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:184429233C>A uc003fpa.2 - 1 604 c.377G>T c.(376-378)CGG>CTG p.R126L NM_022149 NP_071432 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 126 MAGE. ovary(1) 1 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) AAAGACATACCGCAGATGCTC 0.418 NA 35 158 2.09667e-21 3.52276e-21 0.003755 1 0 DGKG 1608 broad.mit.edu 37 3 185986600 185986600 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:185986600C>G uc003fqa.2 - 12 1643 c.1106G>C c.(1105-1107)TGC>TCC p.C369S DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Missense_Mutation_p.C369S|DGKG_uc011brx.1_Intron NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 369 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CGTCATCCGGCACCACACGCA 0.607 NA 14 44 0 0 0.003163 0 0 RTP2 344892 broad.mit.edu 37 3 187416442 187416442 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:187416442C>T uc003fro.1 - 2 951 c.522G>A c.(520-522)GAG>GAA p.E174E NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 174 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) TGGTCACCTCCTCCTCCAGCA 0.647 NA 21 62 0 0 0.002299 0 0 TPRG1 285386 broad.mit.edu 37 3 188925302 188925302 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr3:188925302G>T uc003frv.1 + 7 1356 c.129G>T c.(127-129)AGG>AGT p.R43S TPRG1_uc003frw.1_Missense_Mutation_p.R43S NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 43 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) AGATTTCAAGGCAGTCAAGTG 0.473 NA 39 128 9.85521e-28 1.80183e-27 0.00623 1 0 FGFRL1 53834 broad.mit.edu 37 4 1018108 1018108 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:1018108G>T uc003gce.2 + 6 889 c.728G>T c.(727-729)CGT>CTT p.R243L FGFRL1_uc003gcf.2_Missense_Mutation_p.R243L|FGFRL1_uc003gcg.2_Missense_Mutation_p.R243L|FGFRL1_uc010ibo.2_Missense_Mutation_p.R243L NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 243 Extracellular (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GAGCGGACCCGTTCCAAGCCC 0.711 NA 19 71 2.94398e-08 3.44704e-08 0.007413 1 0 DRD5 1816 broad.mit.edu 37 4 9784629 9784629 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:9784629C>A uc003gmb.3 + 1 1372 c.976C>A c.(976-978)CCC>ACC p.P326T NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 326 Extracellular (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CAGTGGACACCCCGAAGGCCC 0.587 NA 64 209 1.1794e-34 2.28347e-34 0.00361 1 0 SLC2A9 56606 broad.mit.edu 37 4 10027563 10027563 + Nonsense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:10027563C>A uc003gmd.2 - 2 187 c.28G>T c.(28-30)GAA>TAA p.E10* NM_001001290 NP_001001290 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein Error:Variant_position_missing_in_Q9NRM0_after_alignment glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 TCTTCATCTTCTCCTCGGTCC 0.393 NA 25 82 2.65835e-16 4.02068e-16 0.007291 1 0 RFC1 5981 broad.mit.edu 37 4 39314400 39314400 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:39314400C>A uc003gty.1 - 11 1489 c.1355G>T c.(1354-1356)CGT>CTT p.R452L RFC1_uc003gtx.1_Missense_Mutation_p.R452L NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 452 BRCT. DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding p.R452C(1) ovary(2)|pancreas(1)|skin(1) 4 TCCACTATCACGACCCATGAC 0.453 Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157) NA 103 273 1.47424e-42 2.93359e-42 0.00361 1 0 KCTD8 386617 broad.mit.edu 37 4 44449622 44449622 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:44449622C>A uc003gwu.2 - 1 1203 c.919G>T c.(919-921)GAC>TAC p.D307Y NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 307 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 ATCTTGTCGTCGCGGTACTGG 0.632 NA HNSCC(17;0.042) 5 33 0.00116845 0.00122601 0.001168 1 0 CORIN 10699 broad.mit.edu 37 4 47685848 47685848 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:47685848G>A uc003gxm.2 - 7 1014 c.921C>T c.(919-921)AGC>AGT p.S307S CORIN_uc011bzf.1_Silent_p.S168S|CORIN_uc011bzg.1_Silent_p.S240S|CORIN_uc011bzh.1_Silent_p.S307S|CORIN_uc011bzi.1_Silent_p.S307S|CORIN_uc003gxn.3_Silent_p.S307S NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 307 Extracellular (Potential).|LDL-receptor class A 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 ACAGATTCTCGCTGCAGTCTG 0.398 NA 14 57 0 0 0.001855 0 0 CNGA1 1259 broad.mit.edu 37 4 47939673 47939673 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:47939673G>C uc003gxt.3 - 11 1104 c.838C>G c.(838-840)CGT>GGT p.R280G uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R349G NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 280 Extracellular (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 TCAAACATACGAGAGAACCGT 0.363 NA 36 95 0 0 0.003755 0 0 FRYL 285527 broad.mit.edu 37 4 48584628 48584628 + Silent SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:48584628A>T uc003gyh.1 - 20 2477 c.1872T>A c.(1870-1872)CGT>CGA p.R624R FRYL_uc003gyk.2_Silent_p.R624R NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 624 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CAGTCACTTCACGAACAATAA 0.393 NA 16 54 0 0 0.004007 0 0 EPHA5 2044 broad.mit.edu 37 4 66535351 66535351 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:66535351C>T uc003hcy.2 - 1 303 c.110G>A c.(109-111)CGG>CAG p.R37Q EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Missense_Mutation_p.R37Q|EPHA5_uc011cah.1_Missense_Mutation_p.R37Q|EPHA5_uc011cai.1_Missense_Mutation_p.R37Q|EPHA5_uc003hda.2_Missense_Mutation_p.R37Q|uc003hdb.2_5'Flank NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 37 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GAGGGGAGCCCGTCGAGGTGC 0.592 NA TSP Lung(17;0.13) 4 15 0 0 0.000602 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69100244 69100244 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:69100244G>T uc003hdw.3 - 5 542 c.406C>A c.(406-408)CAT>AAT p.H136N NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 136 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AACATCTGATGTAATTTAGCC 0.378 NA 37 119 3.76114e-14 5.42816e-14 0.004289 1 0 UGT2B4 7363 broad.mit.edu 37 4 70346378 70346378 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:70346378T>C uc003hek.3 - 6 1608 c.1561A>G c.(1561-1563)ACA>GCA p.T521A UGT2B4_uc011cap.1_Missense_Mutation_p.T385A|UGT2B4_uc003hel.3_3'UTR NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 521 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TTCTTTCCTGTTCTAACAAAC 0.418 NA 53 164 0 0 0.00361 0 0 ALB 213 broad.mit.edu 37 4 74283925 74283925 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:74283925G>C uc003hgs.3 + 12 1622 c.1549G>C c.(1549-1551)GTC>CTC p.V517L ALB_uc003hgw.3_Missense_Mutation_p.V325L|ALB_uc011cbe.1_Missense_Mutation_p.V196L|ALB_uc003hgt.3_Missense_Mutation_p.V517L|ALB_uc010iii.2_Missense_Mutation_p.V402L|ALB_uc003hgu.3_Missense_Mutation_p.V367L|ALB_uc003hgv.3_Missense_Mutation_p.V196L|ALB_uc011cbf.1_Missense_Mutation_p.V407L|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.V196L NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 517 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AGCTCTGGAAGTCGATGAAAC 0.428 NA 42 128 0 0 0.002852 0 0 CXCL6 6372 broad.mit.edu 37 4 74702735 74702735 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:74702735C>T uc003hhf.2 + 2 359 c.164C>T c.(163-165)ACG>ATG p.T55M IL8_uc011cbh.1_Intron NM_002993 NP_002984 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 (granulocyte 55 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TTACGCGTTACGCTGAGAGTA 0.527 NA 37 96 0 0 0.004289 0 0 NAA11 84779 broad.mit.edu 37 4 80246771 80246771 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:80246771G>T uc003hlt.3 - 1 401 c.261C>A c.(259-261)GCC>GCA p.A87A NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 87 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 TCAGCTTCTGGGCCAGGCCGA 0.577 NA 30 102 7.26314e-15 1.06779e-14 0.007291 1 0 TMEM150C 441027 broad.mit.edu 37 4 83417293 83417293 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:83417293C>T uc003hmy.1 - 6 369 c.291G>A c.(289-291)CCG>CCA p.P97P TMEM150C_uc011ccj.1_Silent_p.P127P NM_001080506 NP_001073975 B9EJG8 T150C_HUMAN transmembrane protein 150C 97 integral to membrane ovary(1) 1 TATTCAGCCACGGGTTTAAAA 0.423 NA 32 90 0 0 0.002836 0 0 PTPN13 5783 broad.mit.edu 37 4 87701591 87701591 + Silent SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:87701591T>G uc003hpz.2 + 36 6408 c.5928T>G c.(5926-5928)TCT>TCG p.S1976S PTPN13_uc003hpy.2_Silent_p.S1981S|PTPN13_uc003hqa.2_Silent_p.S1957S|PTPN13_uc003hqb.2_Silent_p.S1785S|PTPN13_uc003hqc.1_Silent_p.S342S NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1976 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CAAAGAGGTCTGCTGTTTCAG 0.199 NA 4 25 0 0 0.000602 0 0 FAM13A 10144 broad.mit.edu 37 4 89772323 89772323 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:89772323G>A uc003hse.1 - 7 1063 c.855C>T c.(853-855)TCC>TCT p.S285S FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Silent_p.S99S NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 285 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CCTCACTCCTGGATTTTGGGA 0.408 NA 46 169 0 0 0.003214 0 0 TIGD2 166815 broad.mit.edu 37 4 90034726 90034726 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:90034726G>T uc003hsk.2 + 1 759 c.601G>T c.(601-603)GGG>TGG p.G201W FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 201 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) AAGTACTTCTGGGTGTAGGTC 0.294 NA 38 82 1.07637e-12 1.50921e-12 0.004878 1 0 MMRN1 22915 broad.mit.edu 37 4 90857151 90857151 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:90857151A>T uc003hst.2 + 6 2391 c.2320A>T c.(2320-2322)ACA>TCA p.T774S MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.T516S NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 774 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AACTATTTTGACATTTATTCC 0.353 NA 25 74 0 0 0.00333 0 0 ADH1B 125 broad.mit.edu 37 4 100235229 100235229 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:100235229C>A uc003hus.3 - 6 661 c.577G>T c.(577-579)GGC>TGC p.G193C ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.G153C|ADH1B_uc011ceh.1_Missense_Mutation_p.G38C|ADH1B_uc011cei.1_Missense_Mutation_p.G153C NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 193 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CAGGTAGAGCCTGGGGTGACC 0.468 NA 65 240 4.13886e-29 7.65592e-29 0.00361 1 0 MANBA 4126 broad.mit.edu 37 4 103553402 103553402 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:103553402C>T uc003hwg.2 - 17 2552 c.2452G>A c.(2452-2454)GAC>AAC p.D818N MANBA_uc011ces.1_Missense_Mutation_p.D761N NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 818 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) GTCTCCAGGTCAAAAACAAAT 0.418 NA 34 113 0 0 0.002096 0 0 EEF1A1P9 441032 broad.mit.edu 37 4 106406403 106406403 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:106406403C>A uc003hxt.1 + 1 541 c.411C>A c.(409-411)ACC>ACA p.T137T NR_003586 SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment; 0 GCCACAACACCGACACAGTAG 0.448 NA 15 63 1.05317e-09 1.29875e-09 0.00245 1 0 NDST3 9348 broad.mit.edu 37 4 119064823 119064823 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:119064823C>A uc003ibx.2 + 6 1926 c.1523C>A c.(1522-1524)ACT>AAT p.T508N NDST3_uc011cgf.1_Missense_Mutation_p.T427N NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 508 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 CTTTTCTTCACTGTCGTCCTC 0.428 NA 36 76 2.42023e-17 3.76906e-17 0.003271 1 0 MMAA 166785 broad.mit.edu 37 4 146576326 146576326 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:146576326G>T uc003ikh.3 + 7 1082 c.997G>T c.(997-999)GAG>TAG p.E333* MMAA_uc010iow.2_RNA NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN methylmalonic aciduria type A precursor 333 mitochondrion GTP binding|nucleoside-triphosphatase activity ovary(1) 1 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCGAAGTGGAGAGGGGATCTC 0.423 NA 28 108 4.87955e-14 7.01659e-14 0.005443 1 0 POU4F2 5458 broad.mit.edu 37 4 147561705 147561705 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:147561705G>T uc003ikv.2 + 2 1223 c.975G>T c.(973-975)GAG>GAT p.E325D NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 325 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) GGCTCGAGGAGGCCGAGAAGT 0.592 NA 28 84 4.34311e-12 5.90063e-12 0.003271 1 0 NR3C2 4306 broad.mit.edu 37 4 149356498 149356498 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:149356498C>A uc003ilj.3 - 2 1849 c.1515G>T c.(1513-1515)GAG>GAT p.E505D NR3C2_uc003ilk.3_Missense_Mutation_p.E505D|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 505 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GGATGCTGGCCTCTGGGTAAT 0.493 Melanoma(27;428 957 40335 51025 51111) NA 40 136 2.75727e-19 4.42511e-19 0.004878 1 0 TIGD4 201798 broad.mit.edu 37 4 153692094 153692094 + Silent SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:153692094T>C uc003imy.2 - 2 845 c.63A>G c.(61-63)CTA>CTG p.L21L NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 21 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) CCTCAATGGATAGGCTTTTCT 0.388 NA 36 107 0 0 0.004878 0 0 FGB 2244 broad.mit.edu 37 4 155487128 155487128 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:155487128T>A uc003ioa.3 + 2 322 c.283T>A c.(283-285)TGT>AGT p.C95S FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.C92S|FGB_uc010ipv.2_Intron|FGB_uc010ipw.2_Missense_Mutation_p.C92S|FGB_uc003ioc.3_Intron NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 95 Missing (in New York-1). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TGCTGGAGGCTGTCTTCACGC 0.552 NSCLC(106;1133 1613 21870 46110 52656) NA 21 49 0 0 0.002299 0 0 GLRB 2743 broad.mit.edu 37 4 158058029 158058029 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:158058029C>A uc003ipj.2 + 6 803 c.601C>A c.(601-603)CTG>ATG p.L201M NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 201 Extracellular (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CAAGATGCAACTGGAGAGCTG 0.363 NA 31 65 3.00307e-07 3.42463e-07 0.008361 1 0 MARCH1 55016 broad.mit.edu 37 4 164466875 164466875 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:164466875G>T uc003iqs.1 - 7 1421 c.444C>A c.(442-444)ACC>ACA p.T148T MARCH1_uc003iqr.1_Silent_p.T131T NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 148 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TTTCACTTGTGGTCATCTGTA 0.423 NA 33 89 3.99451e-17 6.18403e-17 0.009535 1 0 C4orf39 152756 broad.mit.edu 37 4 165878351 165878351 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:165878351G>T uc003iqx.1 + 1 252 c.177G>T c.(175-177)TTG>TTT p.L59F TRIM61_uc003iqw.2_Intron NM_153027 NP_694572 Q96MZ4 CD039_HUMAN hypothetical protein LOC152756 59 0 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.146) GTGTCTCTTTGCTCAGACATC 0.612 NA 5 24 5.4927e-09 6.64862e-09 0.004482 1 0 TLL1 7092 broad.mit.edu 37 4 166935713 166935713 + Splice_Site SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:166935713G>T uc003irh.1 + 8 1689 c.1042_splice c.e8+1 p.A348_splice TLL1_uc011cjn.1_Splice_Site_p.A348_splice|TLL1_uc011cjo.1_Splice_Site_p.A172_splice NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGATGTCCAGGTATTGCACTA 0.458 NA 44 191 2.00842e-17 3.14639e-17 0.002522 1 0 GPM6A 2823 broad.mit.edu 37 4 176556078 176556078 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:176556078T>A uc003iuf.2 - 7 1619 c.815A>T c.(814-816)GAG>GTG p.E272V GPM6A_uc011ckj.1_Missense_Mutation_p.E265V|GPM6A_uc003iug.2_Missense_Mutation_p.E272V|GPM6A_uc003iuh.2_Missense_Mutation_p.E261V NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 272 Cytoplasmic (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ATTGAGCCGCTCTTTGGAGCG 0.448 NA 26 68 0 0 0.00632 0 0 WDR17 116966 broad.mit.edu 37 4 177069477 177069477 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:177069477G>T uc003iuj.2 + 14 2116 c.1960G>T c.(1960-1962)GAT>TAT p.D654Y WDR17_uc003iuk.2_Missense_Mutation_p.D630Y|WDR17_uc003ium.3_Missense_Mutation_p.D630Y|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 654 WD 12. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCACGGTGCAGATGTATATGG 0.363 NA 18 96 6.49762e-13 9.17585e-13 0.006122 1 0 VEGFC 7424 broad.mit.edu 37 4 177608608 177608608 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:177608608C>A uc003ius.1 - 6 1308 c.878G>T c.(877-879)TGT>TTT p.C293F NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 293 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|1. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TCTGCAGACACACTGACAGGT 0.483 NA 23 89 1.55795e-14 2.26924e-14 0.001882 1 0 FAM149A 25854 broad.mit.edu 37 4 187077232 187077232 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:187077232G>T uc003iyt.3 + 7 1041 c.462G>T c.(460-462)CCG>CCT p.P154P FAM149A_uc011cla.1_Silent_p.P154P|FAM149A_uc010isj.2_Silent_p.P154P|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Silent_p.P154P|FAM149A_uc010isl.2_Silent_p.P154P|FAM149A_uc011clb.1_Silent_p.P154P NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 445 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) CTGTTTCCCCGCGTGACTGTG 0.458 NA 25 83 9.57634e-11 1.23707e-10 0.00333 1 0 ZFP42 132625 broad.mit.edu 37 4 188924008 188924008 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:188924008G>T uc003izg.1 + 3 292 c.47G>T c.(46-48)GGC>GTC p.G16V ZFP42_uc003izh.1_Missense_Mutation_p.G16V|ZFP42_uc003izi.1_Missense_Mutation_p.G16V NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 16 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CACCAGAAAGGCCTGGGTGGA 0.547 NA 25 132 1.1804e-14 1.73213e-14 0.003954 1 0 TRIML2 205860 broad.mit.edu 37 4 189020209 189020209 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:189020209C>A uc003izl.2 - 4 487 c.451G>T c.(451-453)GGC>TGC p.G151C TRIML2_uc003izj.1_Translation_Start_Site|TRIML2_uc003izk.1_Translation_Start_Site|TRIML2_uc011cle.1_Missense_Mutation_p.G201C|TRIML2_uc011clf.1_Missense_Mutation_p.G201C NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 151 ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GCCAAGGTGCCTTCCCCACAC 0.458 NA 27 94 7.92952e-12 1.06994e-11 0.003954 1 0 SLC6A3 6531 broad.mit.edu 37 5 1422011 1422011 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:1422011C>A uc003jck.2 - 5 893 c.772G>T c.(772-774)GGC>TGC p.G258C NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 258 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GTCTTCACGCCCTTCCAGAGG 0.642 NA 55 94 1.19403e-26 2.14328e-26 0.00361 1 0 SEMA5A 9037 broad.mit.edu 37 5 9063152 9063152 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:9063152C>A uc003jek.2 - 18 3077 c.2365G>T c.(2365-2367)GCC>TCC p.A789S NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 789 TSP type-1 5.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GACGTCCAGGCTGACCAAGCC 0.582 NA 17 60 3.45872e-05 3.76446e-05 0.004007 1 0 CTNND2 1501 broad.mit.edu 37 5 11022998 11022998 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:11022998G>T uc003jfa.1 - 17 3027 c.2882C>A c.(2881-2883)ACA>AAA p.T961K CTNND2_uc010itt.2_Missense_Mutation_p.T870K|CTNND2_uc011cmy.1_Missense_Mutation_p.T624K|CTNND2_uc011cmz.1_Missense_Mutation_p.T528K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.T553K NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 961 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GCAGACAGCTGTCACTGTGTC 0.547 NA 28 96 8.24728e-16 1.24024e-15 0.004656 1 0 FBXL7 23194 broad.mit.edu 37 5 15936573 15936573 + Missense_Mutation SNP A A C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:15936573A>C uc003jfn.1 + 4 1235 c.754A>C c.(754-756)ACC>CCC p.T252P NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 252 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CTCCAAAGTGACCTGCATCAG 0.577 NA 17 31 0 0 0.00499 0 0 CDH9 1007 broad.mit.edu 37 5 26915967 26915967 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:26915967G>A uc003jgs.1 - 3 463 c.294C>T c.(292-294)GGC>GGT p.G98G CDH9_uc010iug.2_Silent_p.G98G NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 98 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G98C(1) ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CAAATAGACTGCCAGCCCCAT 0.368 Melanoma(8;187 585 15745 40864 52829) NA 48 154 0 0 0.00361 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33643548 33643548 + Missense_Mutation SNP C C A rs138321976 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:33643548C>A uc003jia.1 - 10 1670 c.1507G>T c.(1507-1509)GTG>TTG p.V503L ADAMTS12_uc010iuq.1_Missense_Mutation_p.V503L NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 503 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AAGCCCTTCACGGAGCACCAC 0.468 NA HNSCC(64;0.19) 42 110 1.41504e-22 2.39795e-22 0.002852 1 0 SLC1A3 6507 broad.mit.edu 37 5 36686351 36686351 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:36686351G>T uc003jkj.3 + 10 2085 c.1609G>T c.(1609-1611)GAC>TAC p.D537Y SLC1A3_uc011cox.1_Missense_Mutation_p.D430Y|SLC1A3_uc010iuy.2_Missense_Mutation_p.D492Y NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 537 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GAAACCCATCGACAGTGAAAC 0.363 NA 64 128 2.50483e-33 4.80244e-33 0.00361 1 0 WDR70 55100 broad.mit.edu 37 5 37703180 37703180 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:37703180C>G uc003jkv.2 + 13 1465 c.1407C>G c.(1405-1407)ATC>ATG p.I469M NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 469 WD 7. ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAATAGACATCACAGATGCGG 0.393 NA 16 126 0 0 0.004007 0 0 HEATR7B2 133558 broad.mit.edu 37 5 40999785 40999785 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:40999785G>C uc003jmj.3 - 40 5069 c.4579C>G c.(4579-4581)CTC>GTC p.L1527V HEATR7B2_uc003jmi.3_Missense_Mutation_p.L1082V NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1527 binding ovary(6)|central_nervous_system(2) 8 TCACCTGTGAGTTTGACAGCT 0.483 NA 25 73 0 0 0.003954 0 0 ESM1 11082 broad.mit.edu 37 5 54281167 54281167 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:54281167C>A uc003jpk.2 - 1 248 c.179G>T c.(178-180)GGG>GTG p.G60V ESM1_uc010ivt.2_Missense_Mutation_p.G60V NM_007036 NP_008967 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 isoform a 60 IGFBP N-terminal. angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) TTCTCCCCGCCCTGCAGCGCA 0.602 NA 23 70 1.96895e-08 2.31572e-08 0.00278 1 0 ANKRD55 79722 broad.mit.edu 37 5 55406997 55406997 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:55406997G>T uc003jqu.2 - 10 1730 c.1578C>A c.(1576-1578)CAC>CAA p.H526Q ANKRD55_uc003jqt.2_Missense_Mutation_p.H238Q NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 525 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) AGACCTCTTGGTGACCAGGCC 0.463 NA 67 222 1.64915e-30 3.12387e-30 0.00361 1 0 CENPK 64105 broad.mit.edu 37 5 64824289 64824289 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:64824289T>C uc003jts.2 - 9 799 c.587A>G c.(586-588)AAA>AGA p.K196R CENPK_uc003jtt.2_Missense_Mutation_p.K166R|CENPK_uc003jtu.2_Missense_Mutation_p.K196R NM_022145 NP_071428 Q9BS16 CENPK_HUMAN SoxLZ/Sox6 leucine zipper binding protein 196 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) CTTTTTCTTTTTAACACTTCT 0.284 NA 12 33 0 0 0.00245 0 0 ANKRD32 84250 broad.mit.edu 37 5 94014519 94014519 + Nonsense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:94014519A>T uc003kkr.3 + 15 1914 c.1834A>T c.(1834-1836)AAA>TAA p.K612* ANKRD32_uc003kks.2_5'UTR NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 612 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) TTAGGTCTTCAAACATGAACT 0.299 NA 9 23 0 0 0.003163 0 0 CCDC112 153733 broad.mit.edu 37 5 114611088 114611088 + Missense_Mutation SNP C C A rs141845700 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:114611088C>A uc003kqy.2 - 6 1007 c.494G>T c.(493-495)GGT>GTT p.G165V CCDC112_uc003kqz.2_Missense_Mutation_p.G248V|CCDC112_uc003kra.2_Missense_Mutation_p.G248V NM_152549 NP_689762 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 isoform 2 165 0 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) ATCCCAGGCACCTTGTCGCCC 0.408 NA 55 139 1.86277e-20 3.07084e-20 0.00361 1 0 AQPEP 206338 broad.mit.edu 37 5 115346543 115346543 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:115346543G>T uc003kro.2 + 14 2363 c.2199G>T c.(2197-2199)AGG>AGT p.R733S AQPEP_uc003krp.2_Intron|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_Intron NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 733 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 TGGTAACCAGGGATCTTGTTT 0.308 NA 20 37 1.01871e-10 1.31168e-10 0.008871 1 0 DMXL1 1657 broad.mit.edu 37 5 118468880 118468880 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:118468880G>T uc003ksd.2 + 11 1550 c.1369G>T c.(1369-1371)GGC>TGC p.G457C DMXL1_uc010jcl.1_Missense_Mutation_p.G457C|DMXL1_uc003ksc.1_Missense_Mutation_p.G457C NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 457 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAAGGAATTAGGCTGTGATAA 0.343 NA 32 94 2.46105e-21 4.12619e-21 0.002096 1 0 MEGF10 84466 broad.mit.edu 37 5 126774191 126774191 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:126774191C>A uc003kuh.3 + 18 2527 c.2165C>A c.(2164-2166)GCT>GAT p.A722D MEGF10_uc003kui.3_Missense_Mutation_p.A722D NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 722 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 13. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CATAATGGAGCTTTCTGCAGC 0.532 NA 38 103 1.03172e-35 2.0074e-35 0.00361 1 0 MEGF10 84466 broad.mit.edu 37 5 126776495 126776495 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:126776495C>T uc003kuh.3 + 19 2660 c.2298C>T c.(2296-2298)GAC>GAT p.D766D MEGF10_uc003kui.3_Silent_p.D766D NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 766 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 14. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACGGAGCTGACTGCGACCACA 0.507 NA 45 107 0 0 0.002852 0 0 FBN2 2201 broad.mit.edu 37 5 127727745 127727745 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:127727745C>A uc003kuu.2 - 11 2008 c.1569G>T c.(1567-1569)ATG>ATT p.M523I FBN2_uc003kuv.2_Missense_Mutation_p.M490I NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 523 EGF-like 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCTTATAACCCATGTTGCATT 0.348 NA 22 50 3.5997e-14 5.2047e-14 0.002299 1 0 FBN2 2201 broad.mit.edu 37 5 127730885 127730885 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:127730885C>A uc003kuu.2 - 9 1600 c.1161G>T c.(1159-1161)CAG>CAT p.Q387H FBN2_uc003kuv.2_Missense_Mutation_p.Q354H NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 387 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACAGCAGCACTGCATTTTCG 0.552 NA 18 36 1.00905e-13 1.44569e-13 0.008871 1 0 SLC27A6 28965 broad.mit.edu 37 5 128324424 128324424 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:128324424C>A uc003kuy.2 + 4 1213 c.817C>A c.(817-819)CTG>ATG p.L273M SLC27A6_uc003kuz.2_Missense_Mutation_p.L273M NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 273 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGCAGCTATCCTGGGAATTTC 0.358 NA 69 170 6.52717e-41 1.29231e-40 0.00361 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128956400 128956400 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:128956400G>T uc003kvb.1 + 9 1550 c.1550G>T c.(1549-1551)GGT>GTT p.G517V ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 517 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CAGAATCTTGGTGACGTTTCA 0.418 NA 55 131 1.54886e-18 2.46566e-18 0.00361 1 0 PKD2L2 27039 broad.mit.edu 37 5 137235237 137235237 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:137235237C>T uc003lby.2 + 5 613 c.557C>T c.(556-558)CCT>CTT p.P186L PKD2L2_uc010jep.1_Missense_Mutation_p.P126L|PKD2L2_uc003lbw.1_Missense_Mutation_p.P186L|PKD2L2_uc003lbx.2_Missense_Mutation_p.P186L|PKD2L2_uc011cyi.1_5'UTR NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 186 Extracellular (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ACCAACTCCCCTTGGCACTGG 0.353 NA 36 51 0 0 0.005524 0 0 GABRG2 2566 broad.mit.edu 37 5 161495054 161495054 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:161495054C>A uc003lyz.3 + 1 407 c.49C>A c.(49-51)CCT>ACT p.P17T GABRG2_uc010jjc.2_Missense_Mutation_p.P17T|GABRG2_uc003lyy.3_Missense_Mutation_p.P17T|GABRG2_uc011dej.1_5'UTR NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 17 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTACTCGACTCCTGTATTTTC 0.463 NA 22 35 1.55469e-16 2.36506e-16 0.00333 1 0 ODZ2 57451 broad.mit.edu 37 5 167645208 167645208 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:167645208C>T uc010jjd.2 + 23 4285 c.4285C>T c.(4285-4287)CTT>TTT p.L1429F ODZ2_uc003lzr.3_Missense_Mutation_p.L1199F|ODZ2_uc003lzt.3_Missense_Mutation_p.L802F|ODZ2_uc010jje.2_Missense_Mutation_p.L693F NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CAATGTCATCCTTCGAATCAC 0.498 NA 82 133 0 0 0.00361 0 0 SLIT3 6586 broad.mit.edu 37 5 168096927 168096927 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:168096927C>A uc003mab.2 - 35 4617 c.4197G>T c.(4195-4197)GGG>GGT p.G1399G SLIT3_uc010jjg.2_Silent_p.G1406G NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1399 EGF-like 8. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACACAAGTCCCCTCCATAGC 0.552 Ovarian(29;311 847 10864 17279 24903) NA 18 40 6.94344e-10 8.58938e-10 0.006122 1 0 ZNF354A 6940 broad.mit.edu 37 5 178139390 178139390 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:178139390T>A uc003mjj.2 - 5 1687 c.1489A>T c.(1489-1491)AAC>TAC p.N497Y NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 497 C2H2-type 10. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) CCACACTCGTTACATTTATAG 0.388 NA 50 101 0 0 0.00361 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178564850 178564850 + Missense_Mutation SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:178564850T>G uc003mjw.2 - 12 1871 c.1871A>C c.(1870-1872)GAG>GCG p.E624A NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 624 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GCACTGCTCCTCGCGGAAGTC 0.701 NA 4 1 0 0 0.009096 0 0 SCGN 10590 broad.mit.edu 37 6 25669751 25669751 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:25669751T>A uc003nfb.2 + 5 552 c.349T>A c.(349-351)TAT>AAT p.Y117N SCGN_uc010jpz.2_Missense_Mutation_p.N26K NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 117 EF-hand 3. extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 TTGGCGCAAATATGACGCTGA 0.398 NA 31 92 0 0 0.002445 0 0 KIAA1949 170954 broad.mit.edu 37 6 30652408 30652408 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:30652408C>G uc003nra.2 - 2 1619 c.1388G>C c.(1387-1389)GGG>GCG p.G463A KIAA1949_uc003nrb.3_Missense_Mutation_p.G463A NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 463 cytoplasm|cytoskeleton actin binding 0 GCGGGGGGCCCCCACCCCTGG 0.537 NA 3 6 0 0 0.000602 0 0 MDC1 9656 broad.mit.edu 37 6 30680116 30680116 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:30680116T>C uc003nrg.3 - 5 2043 c.1603A>G c.(1603-1605)ATT>GTT p.I535V MDC1_uc003nrf.3_Missense_Mutation_p.I189V|MDC1_uc011dmp.1_Missense_Mutation_p.I407V|MDC1_uc003nrh.1_Missense_Mutation_p.I407V|MDC1_uc003nri.2_Missense_Mutation_p.I535V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 535 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 ATATGTATAATGGCTGACCCT 0.502 NA Other_conserved_DNA_damage_response_genes 19 122 0 0 0.007835 0 0 SLC26A8 116369 broad.mit.edu 37 6 35980029 35980029 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:35980029G>A uc003olm.2 - 3 420 c.309C>T c.(307-309)GGC>GGT p.G103G SLC26A8_uc003oln.2_Silent_p.G103G|SLC26A8_uc003oll.2_Silent_p.G103G NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 103 Helical; (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 CTTGCACAAGGCCAACACTTA 0.438 NA 7 263 0 0 0.001984 0 0 DNAH8 1769 broad.mit.edu 37 6 38758175 38758175 + Silent SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:38758175A>G uc003ooe.1 + 18 2724 c.2124A>G c.(2122-2124)TTA>TTG p.L708L NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATCAACTTTTAAAGAAGGTAT 0.313 NA 20 40 0 0 0.007413 0 0 KCNK16 83795 broad.mit.edu 37 6 39290313 39290313 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:39290313G>T uc003ooq.2 - 1 18 c.4C>A c.(4-6)CCC>ACC p.P2T KCNK16_uc003oor.3_Missense_Mutation_p.P2T|KCNK16_uc010jwy.2_Missense_Mutation_p.P2T|KCNK16_uc011dtz.1_Missense_Mutation_p.P2T NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 2 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 CCAGCACTGGGCATGCTGTGG 0.667 NA 4 8 0.00909568 0.00934471 0.009096 1 0 C6orf130 221443 broad.mit.edu 37 6 41036604 41036604 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:41036604C>A uc003opm.2 - 5 504 c.332G>T c.(331-333)GGA>GTA p.G111V UNC5CL_uc010jxe.1_Intron|C6orf130_uc010jxg.2_Missense_Mutation_p.G111V|C6orf130_uc003opn.2_Intron NM_145063 NP_659500 Q9Y530 CF130_HUMAN hypothetical protein LOC221443 111 Macro. 0 Ovarian(28;0.0418)|Colorectal(47;0.196) GTCAGTGACTCCATTCTTCAG 0.408 NA 18 32 5.03518e-11 6.56908e-11 0.007413 1 0 SLC22A7 10864 broad.mit.edu 37 6 43269342 43269342 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:43269342G>T uc003out.2 + 7 1072 c.973G>T c.(973-975)GGG>TGG p.G325W SLC22A7_uc010jyl.1_Missense_Mutation_p.G326W|SLC22A7_uc003ous.2_Missense_Mutation_p.G323W NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 325 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) AGTGGCCGCCGGGGAACGGGT 0.587 NA 13 48 4.14922e-12 5.66652e-12 0.004007 1 0 TCTE1 202500 broad.mit.edu 37 6 44254167 44254167 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:44254167C>A uc003oxi.2 - 3 536 c.380G>T c.(379-381)AGT>ATT p.S127I SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 127 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTAGTTCTCACTGTCTATCAG 0.607 NA 17 181 3.62473e-10 4.51944e-10 0.001882 1 0 SPATS1 221409 broad.mit.edu 37 6 44337843 44337843 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:44337843A>G uc003oxk.2 + 6 1098 c.751A>G c.(751-753)ATT>GTT p.I251V SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Missense_Mutation_p.I136V NM_145026 NP_659463 Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 251 skin(1) 1 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTTCCACAAATTCCCAAGTG 0.343 NA 29 113 0 0 0.007291 0 0 GPR111 222611 broad.mit.edu 37 6 47646847 47646847 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:47646847C>A uc010jzj.1 + 4 449 c.448C>A c.(448-450)CTT>ATT p.L150I GPR111_uc010jzk.1_Missense_Mutation_p.L82I|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 150 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CTGCCAGACTCTTAATGCCCT 0.458 NA 11 95 0.000978159 0.00103323 0.000978 1 0 OPN5 221391 broad.mit.edu 37 6 47759675 47759675 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:47759675G>T uc003ozc.2 + 3 393 c.388G>T c.(388-390)GAT>TAT p.D130Y OPN5_uc003ozd.2_5'UTR NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 130 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 TGTCAGCCTGGATCGATATTT 0.463 Melanoma(28;740 973 10870 42660 45347) NA 25 52 2.21704e-12 3.07575e-12 0.00278 1 0 CRISP1 167 broad.mit.edu 37 6 49806202 49806202 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:49806202C>G uc003ozw.2 - 7 649 c.570G>C c.(568-570)AAG>AAC p.K190N CRISP1_uc003ozx.2_Intron NM_001131 NP_001122 P54107 CRIS1_HUMAN acidic epididymal glycoprotein-like 1 isoform 1 190 fusion of sperm to egg plasma membrane extracellular space 0 Lung NSC(77;0.0358) GGACGCCTGTCTTATAAGGTT 0.358 NA 9 130 0 0 0.008291 0 0 TINAG 27283 broad.mit.edu 37 6 54214562 54214562 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:54214562C>A uc003pcj.2 + 7 1094 c.948C>A c.(946-948)ACC>ACA p.T316T TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 316 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) AAAATGCTACCAACAATGGAT 0.443 NA 47 141 1.89013e-27 3.43977e-27 0.00361 1 0 GFRAL 389400 broad.mit.edu 37 6 55216293 55216293 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:55216293C>A uc003pcm.1 + 5 699 c.613C>A c.(613-615)CTT>ATT p.L205I NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 205 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CAAAGAAGCTCTTCACAGCAA 0.428 NA 47 104 7.88023e-25 1.38608e-24 0.00361 1 0 EYS 346007 broad.mit.edu 37 6 66053948 66053948 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:66053948G>T uc011dxu.1 - 10 2120 c.1582C>A c.(1582-1584)CAT>AAT p.H528N EYS_uc003peq.2_Missense_Mutation_p.H528N|EYS_uc003per.1_Missense_Mutation_p.H528N NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 528 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 GTGCCTTCATGTGGGAACCAA 0.353 NA 22 86 1.55795e-14 2.26924e-14 0.001882 1 0 BAI3 577 broad.mit.edu 37 6 69759227 69759227 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:69759227G>T uc003pev.3 + 15 2770 c.2322G>T c.(2320-2322)TTG>TTT p.L774F BAI3_uc010kak.2_Missense_Mutation_p.L774F NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 774 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATCTAATTTTGCCCACTTTGA 0.289 NA 6 52 0.00116845 0.00122601 0.001168 1 0 COL12A1 1303 broad.mit.edu 37 6 75828759 75828759 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:75828759C>A uc003phs.2 - 46 7520 c.7354G>T c.(7354-7356)GGG>TGG p.G2452W COL12A1_uc003pht.2_Missense_Mutation_p.G1288W NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2452 Nonhelical region (NC3).|VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ATGTGCTTGCCTGACTGCTGG 0.423 NA 16 92 9.16793e-09 1.0946e-08 0.00499 1 0 COL12A1 1303 broad.mit.edu 37 6 75893229 75893229 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:75893229C>A uc003phs.2 - 10 1594 c.1428G>T c.(1426-1428)AGG>AGT p.R476S COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.R134S NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 476 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TAATCTGGACCCTATTTGGTG 0.353 NA 35 101 5.90632e-09 7.12739e-09 0.002445 1 0 COL12A1 1303 broad.mit.edu 37 6 75899098 75899098 + Splice_Site SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:75899098C>A uc003phs.2 - 7 825 c.659_splice c.e7-1 p.G220_splice COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'Flank NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ATGGCATCCCCTAAAGGGAAA 0.328 NA 20 53 8.10497e-08 9.40607e-08 0.010504 1 0 FILIP1 27145 broad.mit.edu 37 6 76023009 76023009 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:76023009C>A uc003pia.2 - 5 2912 c.2539G>T c.(2539-2541)GTG>TTG p.V847L FILIP1_uc003phy.1_Missense_Mutation_p.V847L|FILIP1_uc003phz.2_Missense_Mutation_p.V748L|FILIP1_uc010kbe.2_Missense_Mutation_p.V850L|FILIP1_uc003pib.1_Missense_Mutation_p.V599L NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 847 skin(3)|ovary(1) 4 GATCTTTCCACGGGTTTCTTC 0.453 NA 81 252 6.44082e-31 1.22298e-30 0.00361 1 0 ASCC3 10973 broad.mit.edu 37 6 101095256 101095256 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:101095256C>A uc003pqk.2 - 21 3653 c.3324G>T c.(3322-3324)AGG>AGT p.R1108S ASCC3_uc011eai.1_Missense_Mutation_p.R1010S NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1108 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GATTCAGGAGCCTGTAGGTCA 0.428 NA 42 49 1.15505e-17 1.82036e-17 0.009718 1 0 SLC22A16 85413 broad.mit.edu 37 6 110757068 110757068 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:110757068G>T uc003puf.2 - 6 1475 c.1408C>A c.(1408-1410)CCA>ACA p.P470T SLC22A16_uc003pue.2_Missense_Mutation_p.P451T NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 470 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ACAATGGTTGGATACAGCTCA 0.373 NA 21 77 4.54149e-19 7.27376e-19 0.002299 1 0 GPRC6A 222545 broad.mit.edu 37 6 117128061 117128061 + Silent SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:117128061G>C uc003pxj.1 - 3 829 c.807C>G c.(805-807)GCC>GCG p.A269A GPRC6A_uc003pxk.1_Silent_p.A269A|GPRC6A_uc003pxl.1_Silent_p.A269A NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 269 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CATTAACCTGGGCTTCTAAAA 0.363 NA 34 68 0 0 0.002445 0 0 GJA1 2697 broad.mit.edu 37 6 121768935 121768935 + Missense_Mutation SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:121768935T>G uc003pyr.2 + 2 1192 c.942T>G c.(940-942)AGT>AGG p.S314R GJA1_uc011ebo.1_Missense_Mutation_p.S215R|GJA1_uc011ebp.1_Missense_Mutation_p.S102R NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 314 Cytoplasmic (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CTAATTACAGTGCAGAACAAA 0.458 NA 38 105 0 0 0.007835 0 0 LAMA2 3908 broad.mit.edu 37 6 129470172 129470172 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:129470172C>A uc003qbn.2 + 7 1063 c.958C>A c.(958-960)CAG>AAG p.Q320K LAMA2_uc003qbo.2_Missense_Mutation_p.Q320K NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 320 Laminin EGF-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TAGCTGTGATCAGTGCTGTCC 0.408 NA 41 128 1.47197e-15 2.20097e-15 0.007835 1 0 MOXD1 26002 broad.mit.edu 37 6 132693794 132693794 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:132693794G>T uc003qdf.2 - 4 715 c.616C>A c.(616-618)CAA>AAA p.Q206K MOXD1_uc003qde.2_Missense_Mutation_p.Q138K NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 206 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TTAAACATTTGGCACCAATAT 0.348 NA 21 86 1.50039e-11 1.99377e-11 0.001882 1 0 BCLAF1 9774 broad.mit.edu 37 6 136590641 136590641 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:136590641C>A uc003qgx.1 - 9 2406 c.2153G>T c.(2152-2154)AGT>ATT p.S718I BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgw.1_Missense_Mutation_p.S545I|BCLAF1_uc003qgy.1_Missense_Mutation_p.S716I|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S716I NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 718 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTTGATCCACTGGATTCCCT 0.403 Colon(142;1534 1789 5427 7063 28491) NA 19 125 8.28177e-16 1.24305e-15 0.007413 1 0 TXLNB 167838 broad.mit.edu 37 6 139583834 139583834 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:139583834G>T uc011eds.1 - 5 929 c.764C>A c.(763-765)ACG>AAG p.T255K NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 255 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CTGGATGTCCGTGAGGGTACT 0.488 NA 45 117 8.99859e-20 1.46204e-19 0.00361 1 0 UTRN 7402 broad.mit.edu 37 6 144854358 144854358 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:144854358G>T uc003qkt.2 + 42 6287 c.6195G>T c.(6193-6195)TGG>TGT p.W2065C NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2065 Spectrin 14. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ACCAACGCTGGGATGCAATTG 0.438 NA 24 100 1.30988e-24 2.29374e-24 0.002096 1 0 GPR31 2853 broad.mit.edu 37 6 167571250 167571250 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:167571250C>G uc011egq.1 - 1 70 c.70G>C c.(70-72)GAG>CAG p.E24Q NM_005299 NP_005290 O00270 GPR31_HUMAN G protein-coupled receptor 31 24 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AGCCCACACTCCAGCCCCAGC 0.657 NA 8 26 0 0 0.006214 0 0 THBS2 7058 broad.mit.edu 37 6 169648571 169648571 + Nonsense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:169648571G>A uc003qwt.2 - 4 798 c.550C>T c.(550-552)CAG>TAG p.Q184* NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 184 TSP N-terminal.|Heparin-binding (Potential). 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) TTTTCCGCCTGCAGGTGCTCG 0.617 Esophageal Squamous(91;219 1934 18562 44706) NA 67 228 0 0 0.00361 0 0 DLL1 28514 broad.mit.edu 37 6 170594720 170594720 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr6:170594720T>A uc003qxm.2 - 6 1269 c.799A>T c.(799-801)ACC>TCC p.T267S NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 267 Extracellular (Potential).|EGF-like 2. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TGCTGGCAGGTGCCATGGAGA 0.607 NA 14 52 0 0 0.005443 0 0 CYP2W1 54905 broad.mit.edu 37 7 1026291 1026291 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:1026291T>A uc003sjq.1 + 5 690 c.677T>A c.(676-678)CTG>CAG p.L226Q CYP2W1_uc003sjr.1_Missense_Mutation_p.L226Q NM_017781 NP_060251 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, 226 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) CTCGGGGCCCTGCTCCAGCTG 0.697 NA 13 68 0 0 0.001855 0 0 TMEM195 392636 broad.mit.edu 37 7 15430314 15430314 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:15430314A>T uc003stb.1 - 8 974 c.804T>A c.(802-804)TTT>TTA p.F268L NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 268 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 TGATTGGTTCAAATGTATTAA 0.289 NA 21 122 0 0 0.001882 0 0 SNX13 23161 broad.mit.edu 37 7 17836453 17836453 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:17836453G>A uc003stw.1 - 25 2869 c.2656C>T c.(2656-2658)CCA>TCA p.P886S SNX13_uc003stv.2_Missense_Mutation_p.P875S|SNX13_uc010kuc.2_Missense_Mutation_p.P672S|SNX13_uc010kub.2_Missense_Mutation_p.P281S Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 886 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) CACTCACCTGGCATAATTGCA 0.348 NA 4 117 0 0 0.009096 0 0 HOXA5 3202 broad.mit.edu 37 7 27181480 27181480 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:27181480C>A uc003syn.1 - 2 848 c.787G>T c.(787-789)GCG>TCG p.A263S NM_019102 NP_061975 P20719 HXA5_HUMAN homeobox A5 263 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCTCCTGCCGCGGCCATGCTC 0.468 Colon(119;75 2200 7557 42868) NA OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 144 1.67942e-08 1.99004e-08 0.006122 1 0 HERPUD2 64224 broad.mit.edu 37 7 35709856 35709856 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:35709856C>T uc003tet.2 - 3 1113 c.308G>A c.(307-309)AGT>AAT p.S103N HERPUD2_uc003tes.3_Missense_Mutation_p.S103N NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 103 Ser-rich. response to unfolded protein integral to membrane ovary(3) 3 TGCTTCATGACTTTCTCTATT 0.378 NA 6 91 0 0 0.001984 0 0 TARP 445347 broad.mit.edu 37 7 38305252 38305252 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:38305252G>T uc003tge.1 - 5 832 c.455C>A c.(454-456)CCC>CAC p.P152H uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 AGTGGGCTTGGGGGAAACATC 0.378 NA 35 246 1.07637e-12 1.50921e-12 0.004878 1 0 AMPH 273 broad.mit.edu 37 7 38471793 38471793 + Missense_Mutation SNP C C A rs145380938 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:38471793C>A uc003tgu.2 - 13 1223 c.1154G>T c.(1153-1155)TGG>TTG p.W385L AMPH_uc003tgv.2_Missense_Mutation_p.W385L|AMPH_uc003tgt.2_Missense_Mutation_p.W138L|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 385 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 GCTTACCGTCCATAGGTCCCA 0.323 NA 20 69 4.96729e-08 5.78172e-08 0.008871 1 0 HECW1 23072 broad.mit.edu 37 7 43436451 43436451 + Silent SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:43436451A>G uc003tid.1 + 7 1199 c.594A>G c.(592-594)GGA>GGG p.G198G HECW1_uc011kbi.1_Silent_p.G198G|HECW1_uc003tie.1_Silent_p.G230G NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 198 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CCGTCCAAGGACAAGGAAGTC 0.423 NA 14 118 0 0 0.001855 0 0 HECW1 23072 broad.mit.edu 37 7 43447307 43447307 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:43447307G>T uc003tid.1 + 8 1383 c.778G>T c.(778-780)GTG>TTG p.V260L HECW1_uc011kbi.1_Missense_Mutation_p.V260L|HECW1_uc003tie.1_Missense_Mutation_p.V292L NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 260 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGGCAACACCGTGAACCCCAT 0.547 NA 14 82 0.00244969 0.00254329 0.00245 1 0 URGCP 55665 broad.mit.edu 37 7 43918478 43918478 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:43918478T>A uc003tiw.2 - 6 641 c.584A>T c.(583-585)GAC>GTC p.D195V URGCP_uc003tiu.2_Missense_Mutation_p.D152V|URGCP_uc003tiv.2_Missense_Mutation_p.D120V|URGCP_uc003tix.2_Missense_Mutation_p.D186V|URGCP_uc003tiy.2_Missense_Mutation_p.D152V|URGCP_uc003tiz.2_Missense_Mutation_p.D152V|URGCP_uc011kbj.1_Missense_Mutation_p.D152V NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 195 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CAGGAAACTGTCTGAGGAGAG 0.517 NA 24 54 0 0 0.003954 0 0 PKD1L1 168507 broad.mit.edu 37 7 47869180 47869180 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:47869180C>T uc003tny.1 - 44 6578 c.6578G>A c.(6577-6579)GGT>GAT p.G2193D C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2193 Helical; (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CCAAGCAAAACCCAAGGCCAT 0.498 NA 30 205 0 0 0.008361 0 0 CDC14C 168448 broad.mit.edu 37 7 48965370 48965370 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:48965370G>T uc010kyv.1 + 1 1214 c.1102G>T c.(1102-1104)GAT>TAT p.D368Y NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 CTCTGGTGTTGATGACATTTC 0.468 NA 4 71 2.74318e-10 3.4586e-10 0.006214 1 0 ZPBP 11055 broad.mit.edu 37 7 50121455 50121455 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:50121455C>A uc003tou.2 - 3 319 c.249G>T c.(247-249)GTG>GTT p.V83V ZPBP_uc011kci.1_Silent_p.V9V|ZPBP_uc010kyw.2_Silent_p.V83V NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 83 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TTACACATAACACGTGTGGAC 0.353 NA 20 52 2.4624e-09 2.9944e-09 0.008871 1 0 POM121L12 285877 broad.mit.edu 37 7 53104085 53104085 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:53104085G>T uc003tpz.2 + 1 737 c.721G>T c.(721-723)GGC>TGC p.G241C NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 241 0 GCCGAGCCTCGGCCCCTGGAG 0.647 NA 17 60 1.85244e-09 2.26314e-09 0.00333 1 0 ZNF735 730291 broad.mit.edu 37 7 63680006 63680006 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:63680006T>A uc011kdn.1 + 4 577 c.577T>A c.(577-579)TCA>ACA p.S193T NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 193 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATATGGCAAATCATTTTGCAT 0.313 NA 3 10 0 0 0.004672 0 0 WBSCR22 114049 broad.mit.edu 37 7 73101344 73101344 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:73101344G>T uc003tyt.2 + 5 339 c.281G>T c.(280-282)CGA>CTA p.R94L WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyu.2_Missense_Mutation_p.R94L|WBSCR22_uc003tyv.2_Missense_Mutation_p.R56L|WBSCR22_uc003tyw.1_Intron NM_017528 NP_059998 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 94 nucleus methyltransferase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) GCTGTGGACCGAGAGATAGAG 0.522 NA 27 125 1.17739e-12 1.64501e-12 0.005443 1 0 CLIP2 7461 broad.mit.edu 37 7 73768231 73768231 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:73768231G>T uc003uam.2 + 4 1027 c.700G>T c.(700-702)GTG>TTG p.V234L CLIP2_uc003uan.2_Missense_Mutation_p.V234L NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 234 microtubule associated complex skin(3) 3 GAAGACTGGCGTGGTGCGGTA 0.652 NA 42 180 3.77016e-25 6.64627e-25 0.003214 1 0 HGF 3082 broad.mit.edu 37 7 81388081 81388081 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:81388081C>A uc003uhl.2 - 3 459 c.294G>T c.(292-294)TGG>TGT p.W98C HGF_uc003uhm.2_Missense_Mutation_p.W98C|HGF_uc003uhn.1_Missense_Mutation_p.W98C|HGF_uc003uho.1_Missense_Mutation_p.W98C|HGF_uc003uhp.2_Missense_Mutation_p.W98C NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 98 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TGAAGGGGAACCAGAGGCATT 0.323 NA 22 115 5.26018e-13 7.44169e-13 0.001882 1 0 CACNA2D1 781 broad.mit.edu 37 7 81978919 81978919 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:81978919C>A uc003uhr.1 - 2 398 c.142G>T c.(142-144)GCA>TCA p.A48S NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 48 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GCTGTTTTTGCCAGTGTGACA 0.358 NA 54 197 2.44813e-32 4.68235e-32 0.00361 1 0 PCLO 27445 broad.mit.edu 37 7 82581394 82581394 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:82581394C>A uc003uhx.2 - 5 9164 c.8875G>T c.(8875-8877)GCA>TCA p.A2959S PCLO_uc003uhv.2_Missense_Mutation_p.A2959S|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2890 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGAGTAGTTGCAGGCTGCTGT 0.463 NA 42 163 3.09479e-21 5.1558e-21 0.006999 1 0 ZNF804B 219578 broad.mit.edu 37 7 88965693 88965693 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:88965693G>T uc011khi.1 + 4 3935 c.3397G>T c.(3397-3399)GAA>TAA p.E1133* NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1133 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGACGGATTAGAAATGTGTCA 0.363 NA HNSCC(36;0.09) 24 88 7.33532e-06 8.08424e-06 0.003954 1 0 SLC25A13 10165 broad.mit.edu 37 7 95818951 95818951 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:95818951C>A uc003uof.3 - 8 981 c.790G>T c.(790-792)GTT>TTT p.V264F SLC25A13_uc003uog.3_Missense_Mutation_p.V264F|SLC25A13_uc011kik.1_Missense_Mutation_p.V156F NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 264 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) ATGGGTGTAACCTGACCAAAT 0.353 NA 40 180 6.04917e-29 1.11633e-28 0.006999 1 0 EPHB4 2050 broad.mit.edu 37 7 100417356 100417356 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:100417356C>A uc003uwn.1 - 6 1611 c.1120G>T c.(1120-1122)GGG>TGG p.G374W EPHB4_uc003uwm.1_Missense_Mutation_p.G281W|EPHB4_uc010lhj.1_Missense_Mutation_p.G374W|EPHB4_uc011kkf.1_Missense_Mutation_p.G374W|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.G374W NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 374 Extracellular (Potential).|Fibronectin type-III 1. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) AGGTCTCCCCCGCAGGGCGCA 0.677 GBM(200;2113 3072 25865 52728) NA 12 28 0.00185496 0.00194118 0.001855 1 0 MUC17 140453 broad.mit.edu 37 7 100675547 100675547 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:100675547G>A uc003uxp.1 + 3 903 c.850G>A c.(850-852)GTG>ATG p.V284M MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 284 Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCCTCTCAGCGTGATGCTGGT 0.507 NA 37 251 0 0 0.003755 0 0 MUC17 140453 broad.mit.edu 37 7 100678561 100678561 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:100678561G>T uc003uxp.1 + 3 3917 c.3864G>T c.(3862-3864)ACG>ACT p.T1288T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1288 Extracellular (Potential).|Ser-rich.|19.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACCACGCTGGTGACCA 0.473 NA 89 409 2.68325e-40 5.286e-40 0.00361 1 0 MUC17 140453 broad.mit.edu 37 7 100683947 100683947 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:100683947A>G uc003uxp.1 + 3 9303 c.9250A>G c.(9250-9252)AGT>GGT p.S3084G MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3084 Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TACTGAAGTCAGTTCATCTCC 0.507 NA 98 422 0 0 0.00361 0 0 SH2B2 10603 broad.mit.edu 37 7 101944560 101944560 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:101944560C>T uc011kko.1 + 2 900 c.855C>T c.(853-855)CCC>CCT p.P285P NM_020979 NP_066189 O14492 SH2B2_HUMAN SH2B adaptor protein 2 242 PH. blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity 0 TCGTGCCGCCCAAAGTGAGTT 0.687 NA 4 16 0 0 0.009096 0 0 RELN 5649 broad.mit.edu 37 7 103275876 103275876 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:103275876G>T uc003vca.2 - 19 2621 c.2461C>A c.(2461-2463)CCC>ACC p.P821T RELN_uc010liz.2_Missense_Mutation_p.P821T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 821 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACATACCTGGGCTCATGATAG 0.368 NSCLC(146;835 1944 15585 22231 52158) NA 29 90 1.55811e-20 2.57399e-20 0.008361 1 0 PIK3CG 5294 broad.mit.edu 37 7 106513259 106513259 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:106513259G>T uc003vdv.3 + 4 2248 c.2163G>T c.(2161-2163)CTG>CTT p.L721L PIK3CG_uc003vdu.2_Silent_p.L721L|PIK3CG_uc003vdw.2_Silent_p.L721L NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 721 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 AAGCCTATCTGAGGGGCTGTG 0.453 NA 39 107 2.19358e-23 3.77411e-23 0.005524 1 0 NRCAM 4897 broad.mit.edu 37 7 107834586 107834586 + Missense_Mutation SNP A A T rs146218985 byFrequency TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:107834586A>T uc003vfb.2 - 17 2131 c.1660T>A c.(1660-1662)TAT>AAT p.Y554N NRCAM_uc003vfc.2_Missense_Mutation_p.Y548N|NRCAM_uc011kmk.1_Missense_Mutation_p.Y549N|NRCAM_uc003vfd.2_Missense_Mutation_p.Y530N|NRCAM_uc003vfe.2_Missense_Mutation_p.Y530N NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 554 Ig-like 6.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 ACAACTGCATATTCGGGCTGT 0.413 NA 28 134 0 0 0.006999 0 0 ING3 54556 broad.mit.edu 37 7 120608099 120608099 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:120608099G>C uc003vjn.2 + 8 802 c.668G>C c.(667-669)GGG>GCG p.G223A ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.G223A|ING3_uc011kns.1_Missense_Mutation_p.G208A NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 223 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) ACTGGTGCAGGGGCAATTACC 0.433 NA 24 66 0 0 0.00278 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652315 121652315 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:121652315C>A uc003vjy.2 + 12 3610 c.3215C>A c.(3214-3216)CCC>CAC p.P1072H PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1072 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ACAGTCATGCCCAACATGTAT 0.388 NA 29 105 4.43304e-23 7.56111e-23 0.00632 1 0 GRM8 2918 broad.mit.edu 37 7 126173167 126173167 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:126173167T>C uc003vlr.2 - 8 2580 c.2269A>G c.(2269-2271)ATC>GTC p.I757V GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.I757V|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 757 Helical; Name=5; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) ATCAAGAGGATACTGTATCCA 0.443 NA HNSCC(24;0.065) 15 59 0 0 0.00245 0 0 PLXNA4 91584 broad.mit.edu 37 7 131864655 131864655 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:131864655G>T uc003vra.3 - 20 3894 c.3665C>A c.(3664-3666)TCC>TAC p.S1222Y NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1222 IPT/TIG 4.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CATCCCCGGGGAGTACTCCAT 0.647 NA 8 21 3.09899e-07 3.51873e-07 0.004482 1 0 PLXNA4 91584 broad.mit.edu 37 7 132192299 132192299 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:132192299C>A uc003vra.3 - 2 1383 c.1154G>T c.(1153-1155)TGG>TTG p.W385L PLXNA4_uc003vrc.2_Missense_Mutation_p.W385L|PLXNA4_uc003vrb.2_Missense_Mutation_p.W385L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 385 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 CACCTTGAGCCAGGCCAGGTC 0.602 NA 23 96 1.96895e-08 2.31572e-08 0.00278 1 0 CALD1 800 broad.mit.edu 37 7 134552466 134552466 + Translation_Start_Site SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:134552466C>A uc003vrz.2 + 3 441 c.-18C>A c.(-20--16)CCCTG>CCATG CALD1_uc003vry.2_Translation_Start_Site|CALD1_uc003vsa.2_Translation_Start_Site|CALD1_uc003vsb.2_Translation_Start_Site|CALD1_uc010lmm.2_Translation_Start_Site|CALD1_uc011kpt.1_Translation_Start_Site NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 TCTGGTCTCCCTGAACCTGAA 0.458 NA 6 34 3.59834e-05 3.8949e-05 0.001168 1 0 DGKI 9162 broad.mit.edu 37 7 137151659 137151659 + Splice_Site SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:137151659C>T uc003vtt.2 - 26 2499 c.2498_splice c.e26-1 p.D833_splice DGKI_uc003vtu.2_Missense_Mutation_p.D543N NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 TGAGATCTGTCTATTCGATAA 0.308 NA 9 62 0 0 0.006214 0 0 DGKI 9162 broad.mit.edu 37 7 137172361 137172361 + Nonsense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:137172361G>A uc003vtt.2 - 23 2378 c.2377C>T c.(2377-2379)CAG>TAG p.Q793* DGKI_uc003vtu.2_Nonsense_Mutation_p.Q493* NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 793 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CTCACCTCCTGTAGGCGGTCT 0.388 NA 41 192 0 0 0.00361 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138768597 138768597 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:138768597G>A uc003vun.2 - 3 1014 c.626C>T c.(625-627)CCC>CTC p.P209L ZC3HAV1_uc003vup.2_Missense_Mutation_p.P209L NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 209 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 GACCACGTCGGGGTTCAGCCC 0.547 NA 32 88 0 0 0.008361 0 0 EPHB6 2051 broad.mit.edu 37 7 142566456 142566456 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:142566456G>T uc011kst.1 + 15 3032 c.2245G>T c.(2245-2247)GAG>TAG p.E749* EPHB6_uc011ksu.1_Nonsense_Mutation_p.E749*|EPHB6_uc003wbs.2_Nonsense_Mutation_p.E457*|EPHB6_uc003wbt.2_Nonsense_Mutation_p.E223*|EPHB6_uc003wbu.2_Nonsense_Mutation_p.E457*|EPHB6_uc003wbv.2_Nonsense_Mutation_p.E133* NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 749 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) GGTGCTGACGGAGTTCATGGA 0.647 NA 23 76 1.85244e-09 2.26314e-09 0.00333 1 0 TAS2R60 338398 broad.mit.edu 37 7 143141256 143141256 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:143141256C>G uc011ktg.1 + 1 711 c.711C>G c.(709-711)CCC>CCG p.P237P uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 237 Helical; Name=6; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TCCGAGAGCCCAGTGTGCAGG 0.483 NA 53 158 0 0 0.00361 0 0 ZNF282 8427 broad.mit.edu 37 7 148921335 148921335 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:148921335C>T uc003wfm.2 + 8 1717 c.1612C>T c.(1612-1614)CGC>TGC p.R538C ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.2_Silent_p.T214T NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 538 C2H2-type 1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CATCCACCACCGCAGCCACAC 0.682 NA 11 30 0 0 0.000978 0 0 SSPO 23145 broad.mit.edu 37 7 149486458 149486458 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:149486458G>T uc010lpk.2 + 30 4434 c.4434G>T c.(4432-4434)CTG>CTT p.L1478L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1478 LDL-receptor class A 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGACTGTCTGGATGCCGCCG 0.687 NA 6 30 5.18039e-06 5.7495e-06 0.00308 1 0 GIMAP8 155038 broad.mit.edu 37 7 150174417 150174417 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:150174417G>T uc003whj.2 + 5 1877 c.1547G>T c.(1546-1548)CGC>CTC p.R516L NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 516 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GAGGTCAAGCGCTGTTTGTCC 0.522 NA 29 70 2.48779e-11 3.27276e-11 0.005443 1 0 NCAPG2 54892 broad.mit.edu 37 7 158494630 158494630 + Splice_Site SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:158494630C>A uc003wnv.1 - 2 107 c.-38_splice c.e2-1 NCAPG2_uc003wnw.1_Splice_Site|NCAPG2_uc003wnx.1_Splice_Site|NCAPG2_uc011kwe.1_Splice_Site NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TTTTGTAACCCTAATGGAAAA 0.358 NA 18 60 1.02788e-11 1.38221e-11 0.00499 1 0 ESYT2 57488 broad.mit.edu 37 7 158531731 158531731 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:158531731C>G uc003wob.1 - 18 2397 c.2331G>C c.(2329-2331)GTG>GTC p.V777V ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Silent_p.V216V|ESYT2_uc003woa.1_Silent_p.V354V NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 805 C2 3. integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 CATGCACGACCACGATAAGCT 0.607 NA 25 112 0 0 0.00333 0 0 DLGAP2 9228 broad.mit.edu 37 8 1513999 1513999 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:1513999G>T uc003wpl.2 + 3 1238 c.1141G>T c.(1141-1143)GCA>TCA p.A381S DLGAP2_uc003wpm.2_Missense_Mutation_p.A381S NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 460 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACCAAAGTCGGCAATCCTACC 0.557 NA 9 13 1.76689e-08 2.0843e-08 0.006214 1 0 CSMD1 64478 broad.mit.edu 37 8 2808659 2808659 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:2808659G>T uc011kwk.1 - 66 10571 c.10181C>A c.(10180-10182)TCG>TAG p.S3394* CSMD1_uc011kwj.1_Nonsense_Mutation_p.S2708*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.S1285* NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3394 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCCACTGGCGAGGCTTCGCT 0.458 NA 7 36 1.08611e-07 1.25308e-07 0.000978 1 0 FGF20 26281 broad.mit.edu 37 8 16850805 16850805 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:16850805T>A uc003wxc.1 - 3 545 c.412A>T c.(412-414)ATC>TTC p.I138F FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Missense_Mutation_p.H103L NM_019851 NP_062825 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 138 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity lung(1) 1 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TCCCTAAAGATGCATTCGGAA 0.328 NA 16 221 0 0 0.003163 0 0 DOK2 9046 broad.mit.edu 37 8 21768283 21768283 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:21768283C>G uc003wzy.1 - 4 612 c.519G>C c.(517-519)CGG>CGC p.R173R DOK2_uc003wzx.1_Silent_p.R173R|DOK2_uc003wzz.1_Silent_p.R19R|DOK2_uc010lth.1_Silent_p.R19R NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 173 IRS-type PTB. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TCTCCCCAGCCCGGAGGGTAT 0.642 NA 9 22 0 0 0.004482 0 0 ADRA1A 148 broad.mit.edu 37 8 26721658 26721658 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:26721658C>G uc003xfh.1 - 1 1265 c.829G>C c.(829-831)GTG>CTG p.V277L ADRA1A_uc003xfc.1_Missense_Mutation_p.V277L|ADRA1A_uc010lul.1_Missense_Mutation_p.V277L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.V277L|ADRA1A_uc010lum.1_Missense_Mutation_p.V277L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.V277L NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 277 Helical; Name=6; (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CAGCCGACCACGATGCCCAGC 0.572 NA 14 31 0 0 0.004007 0 0 CSPP1 79848 broad.mit.edu 37 8 68030483 68030483 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:68030483G>C uc003xxi.2 + 14 1618 c.1587G>C c.(1585-1587)AGG>AGC p.R529S CSPP1_uc003xxg.1_Missense_Mutation_p.R521S|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R494S|CSPP1_uc003xxk.2_Missense_Mutation_p.R200S NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 529 Pro-rich. centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TTTCATACAGGATTGCACCTC 0.353 NA 53 128 0 0 0.00361 0 0 PRDM14 63978 broad.mit.edu 37 8 70981552 70981552 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:70981552G>T uc003xym.2 - 2 746 c.544C>A c.(544-546)CCC>ACC p.P182T NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GAGGGTTTGGGACCATCCTCT 0.577 NSCLC(129;99 1813 5906 40656 46114) NA 33 68 3.80469e-20 6.20724e-20 0.009535 1 0 TRPA1 8989 broad.mit.edu 37 8 72968044 72968044 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:72968044C>G uc003xza.2 - 11 1416 c.1241G>C c.(1240-1242)TGT>TCT p.C414S NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 414 ANK 10.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TAGAGGAGTACACCCATCGTT 0.363 NA 10 64 0 0 0.00245 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763833 77763833 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:77763833A>T uc003yav.2 + 10 4928 c.4541A>T c.(4540-4542)CAC>CTC p.H1514L ZFHX4_uc003yau.1_Missense_Mutation_p.H1559L|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1514L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1514 C2H2-type 12. 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) CTCTTGGTCCACTATAATTCA 0.408 NA HNSCC(33;0.089) 15 43 0 0 0.00245 0 0 PAG1 55824 broad.mit.edu 37 8 81905543 81905543 + Splice_Site SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:81905543C>A uc003ybz.2 - 4 632 c.-79_splice c.e4-1 NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity 0 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) GAGCTGTGTCCTGCAAAGAGA 0.572 NA 10 18 7.48243e-07 8.41106e-07 0.006214 1 0 PSKH2 85481 broad.mit.edu 37 8 87076322 87076322 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:87076322C>A uc011lfy.1 - 2 724 c.724G>T c.(724-726)GCA>TCA p.A242S NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 242 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) ATGTCCACTGCACTGGTATAA 0.463 NA 25 71 1.42536e-11 1.9037e-11 0.004656 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885855 88885855 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:88885855G>T uc003ydz.2 - 1 442 c.345C>A c.(343-345)TAC>TAA p.Y115* NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 115 ovary(1) 1 TTTTGTGCGGGTATACCCGGA 0.552 NA 44 157 1.34996e-11 1.80606e-11 0.009718 1 0 RUNX1T1 862 broad.mit.edu 37 8 93004039 93004039 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:93004039G>T uc003yfd.2 - 6 903 c.819C>A c.(817-819)GGC>GGA p.G273G RUNX1T1_uc003yfc.1_Silent_p.G246G|RUNX1T1_uc003yfe.1_Silent_p.G236G|RUNX1T1_uc010mao.2_Silent_p.G246G|RUNX1T1_uc011lgi.1_Silent_p.G284G|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.G236G NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 273 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGTACCGCTGGCCTGGGCTAA 0.507 NA 36 97 2.48696e-23 4.26027e-23 0.003271 1 0 RAD54B 25788 broad.mit.edu 37 8 95412526 95412526 + Nonsense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:95412526C>T uc003ygk.2 - 7 1208 c.1110G>A c.(1108-1110)TGG>TGA p.W370* RAD54B_uc010may.1_Nonsense_Mutation_p.W177*|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) ATTCTTTCTTCCAATTATTCA 0.378 NA Direct_reversal_of_damage|Homologous_recombination 42 71 0 0 0.00874 0 0 PGCP 10404 broad.mit.edu 37 8 97797421 97797421 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:97797421G>T uc003yhw.2 + 2 462 c.296G>T c.(295-297)GGG>GTG p.G99V PGCP_uc010mbe.2_Missense_Mutation_p.G99V NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 99 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) CAGCAAGATGGGCTGGAGAAA 0.488 NA 33 66 1.08312e-15 1.62262e-15 0.009535 1 0 PGCP 10404 broad.mit.edu 37 8 97892084 97892084 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:97892084A>T uc003yhw.2 + 4 866 c.700A>T c.(700-702)ATT>TTT p.I234F PGCP_uc010mbe.2_Missense_Mutation_p.I234F NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 234 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) AACAGCCTGTATTACGGTGGA 0.453 NA 122 198 0 0 0.00361 0 0 VPS13B 157680 broad.mit.edu 37 8 100791128 100791128 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:100791128G>T uc003yiv.2 + 42 7834 c.7723G>T c.(7723-7725)GGG>TGG p.G2575W VPS13B_uc003yiw.2_Missense_Mutation_p.G2550W NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2575 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAGCATCTTCGGGCAGATGGC 0.453 Colon(161;2205 2542 7338 31318) NA 42 165 3.38236e-24 5.89668e-24 0.006999 1 0 SPAG1 6674 broad.mit.edu 37 8 101253240 101253240 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:101253240A>G uc003yjh.1 + 19 2857 c.2771A>G c.(2770-2772)TAT>TGT p.Y924C SPAG1_uc003yji.1_Missense_Mutation_p.Y924C NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 924 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AAAAGGCAGTATGAGCTTTAA 0.368 NA 37 54 0 0 0.004878 0 0 CSMD3 114788 broad.mit.edu 37 8 113504881 113504881 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:113504881G>T uc003ynu.2 - 31 5274 c.5115C>A c.(5113-5115)GGC>GGA p.G1705G CSMD3_uc003yns.2_Silent_p.G977G|CSMD3_uc003ynt.2_Silent_p.G1665G|CSMD3_uc011lhx.1_Silent_p.G1601G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1705 Extracellular (Potential).|Sushi 9. integral to membrane|plasma membrane p.G1705G(1) 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 TCATTATATTGCCTGGATCAA 0.308 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 61 104 2.69953e-25 4.7803e-25 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 113529424 113529424 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:113529424C>A uc003ynu.2 - 28 4754 c.4595G>T c.(4594-4596)GGG>GTG p.G1532V CSMD3_uc003yns.2_Missense_Mutation_p.G804V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1492V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1428V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1532 Extracellular (Potential).|Sushi 8. 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 CATGGGGACCCCTGGGTCACG 0.428 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 53 75 2.84144e-21 4.75383e-21 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 113988231 113988231 + Nonsense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:113988231C>A uc003ynu.2 - 7 1336 c.1177G>T c.(1177-1179)GAA>TAA p.E393* CSMD3_uc003ynt.2_Nonsense_Mutation_p.E353*|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 393 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 ACTCGCTGTTCCTCGGAAAGT 0.502 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 46 227 4.25531e-23 7.27373e-23 0.00361 1 0 SLC30A8 169026 broad.mit.edu 37 8 118174010 118174010 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:118174010C>A uc003yoh.2 + 5 836 c.606C>A c.(604-606)GGC>GGA p.G202G SLC30A8_uc010mcz.2_Silent_p.G153G|SLC30A8_uc011lia.1_Silent_p.G153G|SLC30A8_uc003yog.2_Silent_p.G153G NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 202 HXXXXX[HY]NH-motif.|Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GATGCCTTGGCCACAATCACA 0.448 Ovarian(162;1202 1922 6011 16223 52092) NA 16 112 4.7546e-09 5.77292e-09 0.004007 1 0 COL14A1 7373 broad.mit.edu 37 8 121220515 121220515 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:121220515G>A uc003yox.2 + 11 1501 c.1236G>A c.(1234-1236)TTG>TTA p.L412L COL14A1_uc003yoy.2_Silent_p.L90L|COL14A1_uc010mde.1_Silent_p.L90L NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 412 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGAAAAACTTGATGTCTTTAA 0.388 NA 32 62 0 0 0.009535 0 0 FER1L6 654463 broad.mit.edu 37 8 125109517 125109517 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:125109517C>T uc003yqw.2 + 36 4907 c.4701C>T c.(4699-4701)CGC>CGT p.R1567R uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1567 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACAAGGGCCGCCTGCAGATGT 0.468 NA 92 144 0 0 0.00361 0 0 ADCY8 114 broad.mit.edu 37 8 131964130 131964130 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:131964130G>C uc003ytd.3 - 3 1481 c.1225C>G c.(1225-1227)CGC>GGC p.R409G ADCY8_uc010mds.2_Missense_Mutation_p.R409G NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 409 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTCTCATAGCGATGGATGTAG 0.517 NA HNSCC(32;0.087) 32 83 0 0 0.002096 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994002 143994002 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:143994002G>T uc003yxk.1 - 8 1345 c.1342C>A c.(1342-1344)CGC>AGC p.R448S NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 448 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AGGCACTGGCGCATGCCAAAG 0.682 NA Familial_Hyperaldosteronism_type_I 27 166 9.78306e-22 1.64723e-21 0.009535 1 0 INSL4 3641 broad.mit.edu 37 9 5231684 5231684 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:5231684C>T uc003ziy.2 + 1 266 c.161C>T c.(160-162)CCA>CTA p.P54L NM_002195 NP_002186 Q14641 INSL4_HUMAN insulin-like 4 precursor 54 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) ACCACCACCCCAGGAGGGTGG 0.527 NA 39 44 0 0 0.007835 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18639359 18639359 + Missense_Mutation SNP A A C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:18639359A>C uc003zne.3 + 7 911 c.784A>C c.(784-786)AAA>CAA p.K262Q ADAMTSL1_uc003znb.2_Missense_Mutation_p.K262Q|ADAMTSL1_uc003znc.3_Missense_Mutation_p.K262Q NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 262 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) ATTTCCAGACAAAGAGATACT 0.443 NA 4 48 0 0 0.001168 0 0 FRMPD1 22844 broad.mit.edu 37 9 37744666 37744666 + Silent SNP A A C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:37744666A>C uc004aag.1 + 16 2681 c.2637A>C c.(2635-2637)GCA>GCC p.A879A FRMPD1_uc004aah.1_Silent_p.A879A NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 879 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CCCTTGGTGCACCCTCCCCAA 0.607 NA 12 69 0 0 0.003163 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746032 37746032 + Missense_Mutation SNP A A T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:37746032A>T uc004aag.1 + 16 4047 c.4003A>T c.(4003-4005)AGC>TGC p.S1335C FRMPD1_uc004aah.1_Missense_Mutation_p.S1335C NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1335 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GGACCAGTGCAGCTGTCAGTT 0.577 NA 37 233 0 0 0.004289 0 0 TRPM3 80036 broad.mit.edu 37 9 73253977 73253977 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:73253977G>T uc004aid.2 - 11 1824 c.1580C>A c.(1579-1581)ACG>AAG p.T527K TRPM3_uc004ahu.2_Missense_Mutation_p.T357K|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Missense_Mutation_p.T399K|TRPM3_uc004ahx.2_Missense_Mutation_p.T374K|TRPM3_uc004ahy.2_Missense_Mutation_p.T399K|TRPM3_uc004ahz.2_Missense_Mutation_p.T374K|TRPM3_uc004aia.2_Missense_Mutation_p.T374K|TRPM3_uc004aib.2_Missense_Mutation_p.T374K|TRPM3_uc004aic.2_Missense_Mutation_p.T527K|TRPM3_uc010mor.2_Missense_Mutation_p.T527K NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 552 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TGGCCCTACCGTATTGTACAA 0.418 NA 23 104 1.66031e-10 2.1136e-10 0.003954 1 0 TMEM2 23670 broad.mit.edu 37 9 74327059 74327059 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:74327059C>A uc011lsa.1 - 16 3249 c.2709G>T c.(2707-2709)ATG>ATT p.M903I TMEM2_uc010mos.2_Missense_Mutation_p.M840I|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 903 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGGAATTCTTCATGAGGAAGC 0.428 NA 23 109 5.26018e-13 7.44169e-13 0.001882 1 0 TMC1 117531 broad.mit.edu 37 9 75387409 75387409 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:75387409G>A uc004aiz.1 + 13 1362 c.822G>A c.(820-822)CCG>CCA p.P274P TMC1_uc010moz.1_Silent_p.P232P|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.P128P|TMC1_uc010mpa.1_Silent_p.P128P NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 274 Helical; (Potential). sensory perception of sound integral to membrane ovary(1) 1 TCAGGTTGCCGCTCTCCTATT 0.383 Pancreas(75;173 1345 14232 34245 43413) NA 52 211 0 0 0.00361 0 0 TRPM6 140803 broad.mit.edu 37 9 77378052 77378052 + Splice_Site SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:77378052T>C uc004ajl.1 - 26 3775 c.3537_splice c.e26-1 p.R1179_splice TRPM6_uc004ajk.1_Splice_Site_p.R1174_splice|TRPM6_uc010mpb.1_Splice_Site|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Splice_Site_p.R135_splice NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TCTGTAACCCTAGTGGTGAAG 0.458 NA 9 44 0 0 0.004482 0 0 TRPM6 140803 broad.mit.edu 37 9 77423091 77423091 + Splice_Site SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:77423091C>A uc004ajl.1 - 14 1736 c.1498_splice c.e14-1 p.H500_splice TRPM6_uc004ajk.1_Splice_Site_p.H495_splice|TRPM6_uc010mpb.1_Splice_Site|TRPM6_uc010mpc.1_Splice_Site_p.H500_splice|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GAAGGGTATGCTGCAACAAAA 0.358 NA 21 78 1.50039e-11 1.99377e-11 0.001882 1 0 FRMD3 257019 broad.mit.edu 37 9 85905627 85905627 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:85905627C>G uc004ams.1 - 13 1288 c.1086G>C c.(1084-1086)CAG>CAC p.Q362H FRMD3_uc004amr.1_Missense_Mutation_p.Q348H NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 362 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 AACTGCGGCTCTGAGTAATGT 0.527 NA 28 92 0 0 0.007291 0 0 C9orf64 84267 broad.mit.edu 37 9 86559805 86559805 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:86559805T>A uc004anb.2 - 3 945 c.697A>T c.(697-699)AGT>TGT p.S233C C9orf64_uc004anc.2_Missense_Mutation_p.S92C NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 233 0 ATGGTGATACTGGAGATGTCC 0.428 NA 9 86 0 0 0.004482 0 0 TGFBR1 7046 broad.mit.edu 37 9 101904899 101904899 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:101904899C>T uc004azc.2 + 5 963 c.887C>T c.(886-888)ACA>ATA p.T296I TGFBR1_uc004azd.2_Missense_Mutation_p.T219I|TGFBR1_uc011lvc.1_Missense_Mutation_p.T227I NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 296 Protein kinase.|Cytoplasmic (Potential). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) AACAGATACACAGTTACTGTG 0.418 NA 8 132 0 0 0.004482 0 0 ALG2 85365 broad.mit.edu 37 9 101980430 101980430 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:101980430G>A uc004azf.2 - 2 1107 c.1037C>T c.(1036-1038)TCG>TTG p.S346L ALG2_uc004azg.2_Missense_Mutation_p.S253L NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 346 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) GGGTCCACCCGAATTAACAGC 0.507 NA 11 104 0 0 0.008291 0 0 OR13F1 138805 broad.mit.edu 37 9 107267441 107267441 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:107267441G>T uc011lvm.1 + 1 898 c.898G>T c.(898-900)GCC>TCC p.A300S NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GGTGAAAGTGGCCTTGAAAAA 0.358 NA 9 69 1.12685e-05 1.23671e-05 0.004482 1 0 OR13C8 138802 broad.mit.edu 37 9 107332060 107332060 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:107332060G>T uc011lvo.1 + 1 612 c.612G>T c.(610-612)CTG>CTT p.L204L NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGTCGAATCTGATTGTTCTGG 0.353 NA 31 131 3.1745e-13 4.51535e-13 0.008361 1 0 SVEP1 79987 broad.mit.edu 37 9 113221313 113221313 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:113221313C>A uc010mtz.2 - 19 3740 c.3403G>T c.(3403-3405)GCA>TCA p.A1135S SVEP1_uc010mua.1_Missense_Mutation_p.A1135S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1135 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GCCTTCCCTGCATTAGGTTGG 0.463 NA 35 229 2.20262e-25 3.92684e-25 0.002836 1 0 OR2K2 26248 broad.mit.edu 37 9 114090287 114090287 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:114090287G>T uc011lwp.1 - 1 427 c.427C>A c.(427-429)CGG>AGG p.R143R NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, 172 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTAGCCATCCGTGCACAGACG 0.547 NA 93 79 6.08224e-66 1.26126e-65 0.00361 1 0 AKNA 80709 broad.mit.edu 37 9 117139580 117139580 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:117139580C>A uc004biq.3 - 2 642 c.507G>T c.(505-507)AGG>AGT p.R169S AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.R88S|AKNA_uc004bir.3_Missense_Mutation_p.R169S|AKNA_uc004bis.3_Missense_Mutation_p.R169S|AKNA_uc010mve.2_Missense_Mutation_p.R50S|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.R169S|AKNA_uc004biw.1_Missense_Mutation_p.R169S NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 CCACCCAGCCCCTGGCCTGAC 0.592 NA 37 62 2.79145e-41 5.54071e-41 0.00361 1 0 PAPPA 5069 broad.mit.edu 37 9 118969862 118969862 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:118969862G>A uc004bjn.2 + 3 1987 c.1606G>A c.(1606-1608)GAG>AAG p.E536K PAPPA_uc011lxp.1_Missense_Mutation_p.E329K|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 536 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 ATGGGACAAGGAGGCCCTGAT 0.433 NA 42 56 0 0 0.002522 0 0 PAPPA 5069 broad.mit.edu 37 9 118982315 118982315 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:118982315C>A uc004bjn.2 + 5 2399 c.2018C>A c.(2017-2019)GCG>GAG p.A673E PAPPA_uc011lxp.1_Missense_Mutation_p.A368E|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 673 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 AGGAAACCAGCGCCTGTTGCC 0.572 NA 127 284 2.68169e-52 5.48876e-52 0.00361 1 0 CIZ1 25792 broad.mit.edu 37 9 130941545 130941545 + Missense_Mutation SNP C C G rs111464781 TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:130941545C>G uc004btt.2 - 8 1104 c.941G>C c.(940-942)CGG>CCG p.R314P CIZ1_uc004btr.2_Missense_Mutation_p.R314P|CIZ1_uc004bts.2_Missense_Mutation_p.R285P|CIZ1_uc011maq.1_Missense_Mutation_p.R309P|CIZ1_uc004btu.2_Missense_Mutation_p.R290P|CIZ1_uc011mar.1_Missense_Mutation_p.R213P|CIZ1_uc011mas.1_Missense_Mutation_p.R344P|CIZ1_uc004btw.2_Missense_Mutation_p.R314P|CIZ1_uc004btv.2_Missense_Mutation_p.R314P|CIZ1_uc004btx.2_Missense_Mutation_p.R290P NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 314 Gln-rich. nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 CTGCAGGACCCGTGGCTGGAA 0.632 NA 32 86 0 0 0.00623 0 0 SETX 23064 broad.mit.edu 37 9 135206746 135206746 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:135206746C>T uc004cbk.2 - 8 1111 c.928G>A c.(928-930)GAT>AAT p.D310N SETX_uc004cbj.2_5'Flank|SETX_uc010mzt.2_5'Flank NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 310 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACAATAGGATCCATAAGTTGA 0.423 NA 15 63 0 0 0.00245 0 0 KIAA0649 9858 broad.mit.edu 37 9 138378101 138378101 + Missense_Mutation SNP T T G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:138378101T>G uc004cfr.1 + 4 2294 c.1745T>G c.(1744-1746)CTC>CGC p.L582R NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 582 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) AAGACCCCTCTCTCTAAAACA 0.612 NA 57 109 0 0 0.00361 0 0 SOHLH1 402381 broad.mit.edu 37 9 138586907 138586907 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:138586907C>T uc004cgl.2 - 6 925 c.864G>A c.(862-864)GCG>GCA p.A288A SOHLH1_uc010nbe.2_Silent_p.A288A NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 288 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CGGCCTCCTGCGCCAGCATGG 0.697 NA 3 22 0 0 0.004672 0 0 CACNA1B 774 broad.mit.edu 37 9 140972591 140972591 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:140972591G>T uc004cog.2 + 35 5120 c.4975G>T c.(4975-4977)GAG>TAG p.E1659* CACNA1B_uc004coi.2_Nonsense_Mutation_p.E871*|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Nonsense_Mutation_p.E14* NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1659 IV.|Extracellular (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGCCTGGCACGAGATCATGCT 0.607 NA 9 69 5.4927e-09 6.64862e-09 0.004482 1 0 SFRS17A 8227 broad.mit.edu 37 X 1719992 1719992 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:1719992G>T uc004cqa.2 + 5 1789 c.1593G>T c.(1591-1593)GTG>GTT p.V531V SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 531 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 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) CCTGTCGTGTGGTCCCCGAGG 0.667 NA 6 47 3.59834e-05 3.8949e-05 0.001168 1 0 ARSH 347527 broad.mit.edu 37 X 2936699 2936699 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:2936699G>T uc011mhj.1 + 5 889 c.889G>T c.(889-891)GAT>TAT p.D297Y NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 297 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AGAAGAAATGGATTGGATGGT 0.398 NA 7 27 0.00198382 0.00206506 0.001984 1 0 MXRA5 25878 broad.mit.edu 37 X 3228247 3228247 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:3228247T>A uc004crg.3 - 7 8154 c.7997A>T c.(7996-7998)CAG>CTG p.Q2666L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2666 Ig-like C2-type 11. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAAACGTCCCTGCCCAGCCCC 0.592 NA 28 72 0 0 0.00632 0 0 MXRA5 25878 broad.mit.edu 37 X 3235361 3235361 + Missense_Mutation SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:3235361C>T uc004crg.3 - 6 6518 c.6361G>A c.(6361-6363)GAG>AAG p.E2121K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2121 Ig-like C2-type 5. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCACGCACTCATAGCGCCCG 0.672 NA 3 8 0 0 0.004672 0 0 MXRA5 25878 broad.mit.edu 37 X 3248432 3248432 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:3248432G>T uc004crg.3 - 4 493 c.336C>A c.(334-336)TAC>TAA p.Y112* NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 112 LRR 3. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCAGCTTGTTGTAGCTGAACT 0.428 NA 7 13 8.12818e-05 8.70246e-05 0.001984 1 0 FRMPD4 9758 broad.mit.edu 37 X 12734443 12734443 + Missense_Mutation SNP A A G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:12734443A>G uc004cuz.1 + 15 2371 c.1865A>G c.(1864-1866)TAC>TGC p.Y622C FRMPD4_uc011mij.1_Missense_Mutation_p.Y614C NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 622 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 GAGGCAGACTACAGAAGTCTA 0.512 NA 29 71 0 0 0.007291 0 0 DDX53 168400 broad.mit.edu 37 X 23018528 23018528 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:23018528C>T uc004daj.2 + 1 442 c.354C>T c.(352-354)AGC>AGT p.S118S NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 118 nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 AACAAGAAAGCTACAACTCAG 0.403 NA 23 52 0 0 0.00278 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254905 30254905 + Silent SNP C C T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:30254905C>T uc004dca.1 + 5 1601 c.864C>T c.(862-864)GTC>GTT p.V288V NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 288 MAGE. 0 AGATGAAGGTCCTGGAGTTTT 0.493 NA 11 44 0 0 0.008291 0 0 RPGR 6103 broad.mit.edu 37 X 38146132 38146132 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:38146132C>G uc004ded.1 - 15 2288 c.2120G>C c.(2119-2121)GGG>GCG p.G707A RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 ctgctcttccccatccctctt 0 NA 4 11 0 0 0.009096 0 0 RBM10 8241 broad.mit.edu 37 X 47032551 47032551 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:47032551G>T uc004dhf.2 + 5 836 c.457G>T c.(457-459)GGC>TGC p.G153C RBM10_uc004dhe.1_Missense_Mutation_p.G143C|RBM10_uc004dhg.2_Missense_Mutation_p.G76C|RBM10_uc004dhh.2_Missense_Mutation_p.G153C|RBM10_uc010nhq.2_Missense_Mutation_p.G76C|RBM10_uc004dhi.2_Missense_Mutation_p.G218C NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 153 RRM 1. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 GCAGTCGCACGGCGTGCAAGC 0.607 Melanoma(171;120 2705 19495 39241) NA 11 14 1.08611e-07 1.25308e-07 0.000978 1 0 ARAF 369 broad.mit.edu 37 X 47426307 47426307 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:47426307G>T uc011mlq.1 + 8 857 c.724G>T c.(724-726)GAT>TAT p.D242Y ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.D108Y|ARAF_uc011mlp.1_Missense_Mutation_p.D242Y|ARAF_uc004dic.1_Missense_Mutation_p.D23Y NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 242 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) TTTCAGCACTGATGGTGAGTC 0.587 NA 29 59 1.7881e-09 2.19133e-09 0.008361 1 0 PJA1 64219 broad.mit.edu 37 X 68381607 68381607 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:68381607T>A uc004dxh.2 - 2 1761 c.1475A>T c.(1474-1476)GAT>GTT p.D492V PJA1_uc011mpi.1_Missense_Mutation_p.D210V|PJA1_uc004dxg.2_Missense_Mutation_p.D304V|PJA1_uc004dxi.2_Missense_Mutation_p.D437V NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 492 zinc ion binding 0 GTTGTTTCCATCCAGCATGAA 0.478 NA 50 78 0 0 0.00361 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961382 73961382 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:73961382T>C uc004eby.2 - 3 3627 c.3010A>G c.(3010-3012)AGT>GGT p.S1004G NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1004 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CAATAATTACTTGAGCTGACA 0.473 NA 17 71 0 0 0.00499 0 0 ATP7A 538 broad.mit.edu 37 X 77245130 77245130 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:77245130G>T uc004ecx.3 + 4 1172 c.1012G>T c.(1012-1014)GTA>TTA p.V338L ATP7A_uc004ecw.2_Missense_Mutation_p.V338L NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 338 HMA 3.|Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 AATAGAGGCTGTATCACCGGG 0.418 NA 171 113 7.43762e-64 1.53425e-63 0.00361 1 0 PCDH11X 27328 broad.mit.edu 37 X 91131866 91131866 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:91131866G>T uc004efk.1 + 2 1472 c.627G>T c.(625-627)AGG>AGT p.R209S PCDH11X_uc004efl.1_Missense_Mutation_p.R209S|PCDH11X_uc004efo.1_Missense_Mutation_p.R209S|PCDH11X_uc010nmv.1_Missense_Mutation_p.R209S|PCDH11X_uc004efm.1_Missense_Mutation_p.R209S|PCDH11X_uc004efn.1_Missense_Mutation_p.R209S|PCDH11X_uc004efh.1_Missense_Mutation_p.R209S|PCDH11X_uc004efj.1_Missense_Mutation_p.R209S NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 209 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AGTTAGATAGGGAAGAGAAGG 0.403 NSCLC(38;925 1092 2571 38200 45895) NA 102 54 2.2063e-47 4.49241e-47 0.00361 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873373 91873373 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:91873373C>A uc004efk.1 + 7 4323 c.3478C>A c.(3478-3480)CAT>AAT p.H1160N PCDH11X_uc004efl.1_Missense_Mutation_p.H1150N|PCDH11X_uc004efo.1_Missense_Mutation_p.H1123N|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1152N|PCDH11X_uc004efn.1_Missense_Mutation_p.H1142N NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1160 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATCTCTGGATCATTCCAGCTC 0.542 NSCLC(38;925 1092 2571 38200 45895) NA 70 59 2.23852e-25 3.98185e-25 0.00361 1 0 ZMAT1 84460 broad.mit.edu 37 X 101152935 101152935 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:101152935C>A uc011mrl.1 - 5 722 c.411G>T c.(409-411)CAG>CAT p.Q137H ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR NM_001011657 NP_001011657 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 1 Error:Variant_position_missing_in_A7MD47_after_alignment nucleus zinc ion binding ovary(1) 1 CATAGTGAGACTGAGCAATAA 0.413 NA 93 48 2.46799e-47 5.0123e-47 0.00361 1 0 ZMAT1 84460 broad.mit.edu 37 X 101153123 101153123 + Translation_Start_Site SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:101153123T>A uc004ein.2 - 3 489 c.-891A>T c.(-893--889)TAAGA>TATGA ZMAT1_uc011mrl.1_Missense_Mutation_p.K100M|ZMAT1_uc011mrm.1_Translation_Start_Site NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 nucleus zinc ion binding ovary(1) 1 CTTCATTTTCTTACCAGGCAC 0.318 NA 20 39 0 0 0.010504 0 0 TEX13A 56157 broad.mit.edu 37 X 104465059 104465059 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:104465059G>C uc004ema.2 - 2 135 c.23C>G c.(22-24)CCC>CGC p.P8R IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P8R NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 8 intracellular zinc ion binding ovary(2) 2 CCCGCTACTGGGGTCCTCAGG 0.537 NA 18 21 0 0 0.007413 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284406 118284406 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:118284406C>A uc004era.3 - 1 137 c.137G>T c.(136-138)TGT>TTT p.C46F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 46 ovary(4)|skin(1) 5 ACAACTGCAACAGCCTTGGGA 0.572 NA 24 27 2.27525e-19 3.66646e-19 0.003954 1 0 THOC2 57187 broad.mit.edu 37 X 122755273 122755273 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:122755273G>A uc004etu.2 - 31 3983 c.3951C>T c.(3949-3951)ACC>ACT p.T1317T THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Silent_p.T138T NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1317 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TTCTTTCCTTGGTCTCTCTTG 0.408 NA 93 72 0 0 0.00361 0 0 OR13H1 347468 broad.mit.edu 37 X 130678094 130678094 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:130678094G>T uc011muw.1 + 1 47 c.47G>T c.(46-48)GGC>GTC p.G16V IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Acute lymphoblastic leukemia(192;0.000636) CTCCTTATTGGCATTTCTAAC 0.383 NA 27 122 1.77063e-15 2.63754e-15 0.005443 1 0 GPC4 2239 broad.mit.edu 37 X 132439938 132439938 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:132439938C>A uc004exc.1 - 6 1229 c.1017G>T c.(1015-1017)CAG>CAT p.Q339H GPC4_uc011mvg.1_Missense_Mutation_p.Q269H NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 339 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) GTCCACATCCCTGGAAAACCT 0.582 NA 154 262 1.27947e-65 2.64626e-65 0.00361 1 0 GPR112 139378 broad.mit.edu 37 X 135428122 135428122 + Nonsense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:135428122G>T uc004ezu.1 + 6 2548 c.2257G>T c.(2257-2259)GAA>TAA p.E753* GPR112_uc010nsb.1_Nonsense_Mutation_p.E548*|GPR112_uc010nsc.1_Nonsense_Mutation_p.E520* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 753 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CAATATGCCTGAATTTAAACT 0.373 NA 51 31 2.69774e-35 5.23602e-35 0.00361 1 0 CD40LG 959 broad.mit.edu 37 X 135730460 135730460 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:135730460C>G uc004faa.2 + 1 125 c.53C>G c.(52-54)CCC>CGC p.P18R CD40LG_uc010nsd.2_Missense_Mutation_p.P18R|CD40LG_uc010nse.1_5'Flank NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 18 Cytoplasmic (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) ACTGGACTGCCCATCAGCATG 0.423 NA Immune_Deficiency_with_Hyper-IgM 99 52 0 0 0.00361 0 0 FGF13 2258 broad.mit.edu 37 X 137715045 137715045 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:137715045C>G uc004fam.2 - 5 1366 c.704G>C c.(703-705)GGA>GCA p.G235A FGF13_uc004fan.2_Missense_Mutation_p.G182A|FGF13_uc011mwi.1_Missense_Mutation_p.G216A|FGF13_uc004faq.2_Missense_Mutation_p.G245A|FGF13_uc004far.2_Missense_Mutation_p.G216A|FGF13_uc011mwj.1_Missense_Mutation_p.G245A|FGF13_uc011mwk.1_Missense_Mutation_p.G189A NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 235 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GGATTTGCCTCCGTTCAGCAC 0.527 NA 150 92 0 0 0.00361 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969330 140969330 + Silent SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:140969330G>T uc011mwp.1 + 4 657 c.657G>T c.(655-657)ACG>ACT p.T219T NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 219 MAGE 1. p.T219M(1) skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ACACATACACGGGCTACTTTC 0.438 NA 44 177 1.23103e-26 2.20466e-26 0.003214 1 0 MAGEC3 139081 broad.mit.edu 37 X 140985421 140985421 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:140985421C>A uc011mwp.1 + 8 1735 c.1735C>A c.(1735-1737)CAG>AAG p.Q579K MAGEC3_uc004fbs.2_Nonsense_Mutation_p.S328*|MAGEC3_uc010nsj.2_Nonsense_Mutation_p.S328* NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 579 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGAGCCCATTCAGAGGCCAGC 0.473 NA 104 44 3.06722e-38 6.02735e-38 0.00361 1 0 SPANXN3 139067 broad.mit.edu 37 X 142596702 142596702 + Missense_Mutation SNP T T C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:142596702T>C uc004fbw.2 - 2 456 c.368A>G c.(367-369)CAG>CGG p.Q123R NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN SPANX-N3 protein 123 ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCATCCTCCTGTGAGGATCC 0.453 NA 61 91 0 0 0.00361 0 0 PASD1 139135 broad.mit.edu 37 X 150840994 150840994 + Missense_Mutation SNP G G T rs147522572 byFrequency TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:150840994G>T uc004fev.3 + 14 2109 c.1777G>T c.(1777-1779)GTA>TTA p.V593L NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 593 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCCACGTGACGTATCTGTGCC 0.393 NA 58 83 1.61742e-36 3.17046e-36 0.00361 1 0 CNGA2 1260 broad.mit.edu 37 X 150912077 150912077 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:150912077G>A uc004fey.1 + 7 1326 c.1102G>A c.(1102-1104)GTG>ATG p.V368M NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 368 Helical; Name=H5; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGCCACCATCGTGGGAAATGT 0.507 NA 81 76 0 0 0.00361 0 0 HCFC1 3054 broad.mit.edu 37 X 153227748 153227748 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:153227748G>A uc004fjp.2 - 5 1250 c.722C>T c.(721-723)ACG>ATG p.T241M NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 241 Kelch 4. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTATTCCACGTCAGGGTGTC 0.567 NA 14 27 0 0 0.00245 0 0 CLIC2 1193 broad.mit.edu 37 X 154509358 154509358 + Splice_Site SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:154509358C>G uc004fnf.2 - 4 544 c.294_splice c.e4-1 p.R98_splice CLIC2_uc010nvj.1_Splice_Site_p.R116_splice NM_001289 NP_001280 O15247 CLIC2_HUMAN chloride intracellular channel 2 signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity large_intestine(1)|ovary(1)|skin(1) 3 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTGAGGGTACCTTAAAAAGAA 0.418 Melanoma(108;581 1592 2289 21669 28822) NA 20 46 0 0 0.007413 0 0 Unknown 0 broad.mit.edu 37 X 155255036 155255036 + Silent SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chrX:155255036C>G uc004fnx.3 + 9 1246 c.792C>G c.(790-792)TCC>TCG p.S264S NM_182905 NP_878908 WAS protein family homolog 1 NA ACTGGGAATCCTAGGGGGCTC 0.642 NA 3 17 0 0 0.009096 0 0 SPATA17 128153 broad.mit.edu 37 1 217955584 217955584 + Frame_Shift_Del DEL G G - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr1:217955584delG uc001hlh.1 + 8 818 c.792delG c.(790-792)GTGfs p.V264fs SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Frame_Shift_Del_p.V264fs NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 264 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) CGTTGCGGGTGGCAGAACCAA 0.448 NA 48 91 --- --- --- --- NA NA NA NA NA OR56A4 120793 broad.mit.edu 37 11 6023930 6023930 + Frame_Shift_Del DEL G G - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:6023930delG uc010qzv.1 - 1 449 c.449delC c.(448-450)CCAfs p.P150fs NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGCAGGCTGGGAAGCTGAT 0.547 NA 36 71 --- --- --- --- NA NA NA NA NA DCHS1 8642 broad.mit.edu 37 11 6643491 6643491 + Frame_Shift_Del DEL C C - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:6643491delC uc001mem.1 - 21 9826 c.9416delG c.(9415-9417)GGCfs p.G3139fs TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 3139 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATGGCTTGCCATCTGCTGG 0.652 NA 6 13 --- --- --- --- NA NA NA NA NA LRRC4C 57689 broad.mit.edu 37 11 40137020 40137020 + Frame_Shift_Del DEL C C - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:40137020delC uc001mxa.1 - 2 2787 c.823delG c.(823-825)GCAfs p.A275fs LRRC4C_uc001mxc.1_Frame_Shift_Del_p.A271fs|LRRC4C_uc001mxd.1_Frame_Shift_Del_p.A271fs|LRRC4C_uc001mxb.1_Frame_Shift_Del_p.A271fs NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 275 LRR 9. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TTATTGTGTGCCAGGTTGATC 0.428 NA 52 126 --- --- --- --- NA NA NA NA NA ALKBH8 91801 broad.mit.edu 37 11 107424656 107424661 + In_Frame_Del DEL ACCATG ACCATG - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 ACCATG ACCATG - - ACCATG ACCATG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr11:107424656_107424661delACCATG uc010rvr.1 - 4 486_491 c.411_416delCATGGT c.(409-417)CTCATGGTA>CTA p.MV138del ALKBH8_uc001pjk.2_5'Flank|ALKBH8_uc010rvq.1_Translation_Start_Site|ALKBH8_uc009yxp.2_In_Frame_Del_p.MV138del|ALKBH8_uc001pjl.2_RNA NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 138_139 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) TTCTTCTACTACCATGAGTCCTGGTG 0.364 NA 9 56 --- --- --- --- NA NA NA NA NA WDR25 79446 broad.mit.edu 37 14 100934506 100934507 + Splice_Site INS - - T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr14:100934506_100934507insT uc010avx.2 + 3 1063 c.970_splice c.e3+1 p.G324_splice WDR25_uc001yhm.2_Splice_Site_p.G316_splice|WDR25_uc001yhn.2_Splice_Site_p.G324_splice|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Splice_Site_p.G67_splice NM_001161476 NP_001154948 Q64LD2 WDR25_HUMAN WD repeat domain 25 0 Melanoma(154;0.212) CTTGAAACAGGTGCGTTTCTTG 0.629 NA 27 148 --- --- --- --- NA NA NA NA NA FAM81A 145773 broad.mit.edu 37 15 59808843 59808843 + Splice_Site DEL G G - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr15:59808843delG uc002agc.2 + 8 974 c.787_splice c.e8-1 p.G263_splice NM_152450 NP_689663 Q8TBF8 FA81A_HUMAN hypothetical protein LOC145773 ovary(1) 1 ATGGATCTCAGGGAGCCAGTG 0.408 NA 19 46 --- --- --- --- NA NA NA NA NA CASKIN1 57524 broad.mit.edu 37 16 2236767 2236767 + Frame_Shift_Del DEL C C - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr16:2236767delC uc010bsg.1 - 10 1021 c.989delG c.(988-990)GGCfs p.G330fs NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 330 SH3. signal transduction cytoplasm skin(2) 2 CCGGTCATTGCCCGTCCGGTT 0.672 NA 26 78 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577594 7577595 + Frame_Shift_Del DEL AC AC - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr17:7577594_7577595delAC uc002gim.2 - 7 880_881 c.686_687delGT c.(685-687)TGTfs p.C229fs TP53_uc002gig.1_Frame_Shift_Del_p.C229fs|TP53_uc002gih.2_Frame_Shift_Del_p.C229fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C97fs|TP53_uc010cng.1_Frame_Shift_Del_p.C97fs|TP53_uc002gii.1_Frame_Shift_Del_p.C97fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C229fs|TP53_uc010cni.1_Frame_Shift_Del_p.C229fs|TP53_uc002gij.2_Frame_Shift_Del_p.C229fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.C136fs|TP53_uc002gio.2_Frame_Shift_Del_p.C97fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 229 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> Y (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> S (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.C229fs*10(10)|p.0?(7)|p.C229*(3)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229fs*18(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229G(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(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) GGATGGTGGTACAGTCAGAGCC 0.525 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) 22 47 --- --- --- --- NA NA NA NA NA PTPRA 5786 broad.mit.edu 37 20 2945550 2945550 + Frame_Shift_Del DEL G G - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr20:2945550delG uc010zqb.1 + 5 510 c.117delG c.(115-117)ACGfs p.T39fs PTPRA_uc002whj.2_Frame_Shift_Del_p.T39fs|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.2_Frame_Shift_Del_p.T39fs|PTPRA_uc010zqd.1_Frame_Shift_Del_p.T50fs|PTPRA_uc002whl.2_Frame_Shift_Del_p.T39fs|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Frame_Shift_Del_p.T39fs P18433 PTPRA_HUMAN SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48); 39 Extracellular (Potential). axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 ACTCATCAACGGCAGAACCAG 0.388 NA 36 68 --- --- --- --- NA NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187627867 187627868 + Frame_Shift_Ins INS - - A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr4:187627867_187627868insA uc003izf.2 - 2 3302_3303 c.3114_3115insT c.(3112-3117)GTGGAAfs p.V1038fs FAT1_uc010iso.1_Frame_Shift_Ins_p.V1038fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1038_1039 Extracellular (Potential).|Cadherin 9. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTCCCCTTTTCCACAAAGCTGG 0.485 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 52 167 --- --- --- --- NA NA NA NA NA CDH18 1016 broad.mit.edu 37 5 19747207 19747207 + Frame_Shift_Del DEL G G - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr5:19747207delG uc003jgc.2 - 3 744 c.367delC c.(367-369)CACfs p.H123fs CDH18_uc003jgd.2_Frame_Shift_Del_p.H123fs|CDH18_uc011cnm.1_Frame_Shift_Del_p.H123fs NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 123 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGCACATAGTGGGTCTTCTGC 0.443 NA 26 174 --- --- --- --- NA NA NA NA NA ZNF746 155061 broad.mit.edu 37 7 149191498 149191499 + Frame_Shift_Ins INS - - C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr7:149191498_149191499insC uc003wfw.2 - 2 391_392 c.120_121insG c.(118-123)GGGATGfs p.G40fs ZNF746_uc010lpi.2_Frame_Shift_Ins_p.G40fs NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 40_41 Potential. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TTCTCGGCCATCCCGGTTCGAC 0.594 NA 39 186 --- --- --- --- NA NA NA NA NA ZFHX4 79776 broad.mit.edu 37 8 77761315 77761315 + Frame_Shift_Del DEL C C - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr8:77761315delC uc003yav.2 + 7 3848 c.3461delC c.(3460-3462)GCAfs p.A1154fs ZFHX4_uc003yau.1_Frame_Shift_Del_p.A1199fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.A1154fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1154 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) GAGGATGTTGCAACAAAAAGG 0.393 NA HNSCC(33;0.089) 4 4 --- --- --- --- NA NA NA NA NA CEL 1056 broad.mit.edu 37 9 135940095 135940095 + Frame_Shift_Del DEL G G - TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a3245e-f3d7-470a-a755-3160de5cd48a 080c8d6b-3003-415a-a33d-8695a3011adb g.chr9:135940095delG uc010naa.1 + 3 311 c.295delG c.(295-297)GGGfs p.G99fs NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 96 Heparin-binding. cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CAGCACCTACGGGGATGAAGA 0.602 NA 35 115 --- --- --- --- NA NA NA NA NA