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 TNFRSF4 7293 broad.mit.edu 37 1 1148426 1148426 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:1148426C>G uc001ade.2 - 3 321 c.316G>C c.(316-318)GTC>CTC p.V106L TNFRSF4_uc001adf.2_Missense_Mutation_p.V110L NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 106 TNFR-Cys 2.|Extracellular (Potential). immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAGCGGCAGACTGTGTCCTGT 0.701 NA 3 27 0 0 0.004672 0 0 TAS1R1 80835 broad.mit.edu 37 1 6636489 6636489 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:6636489C>A uc001ant.2 + 4 1275 c.1275C>A c.(1273-1275)ATC>ATA p.I425I TAS1R1_uc001anu.2_Silent_p.I171I|TAS1R1_uc001anv.2_Silent_p.I171I|TAS1R1_uc001anw.2_Intron NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 425 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TGGAGCAGATCCACAAGGTGC 0.507 NA 20 195 0.00121646 0.00139378 0.008871 1 0 ERRFI1 54206 broad.mit.edu 37 1 8074129 8074129 + Nonsense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:8074129G>C uc001aoz.2 - 4 779 c.530C>G c.(529-531)TCA>TGA p.S177* ERRFI1_uc001apa.1_Nonsense_Mutation_p.S102* NM_018948 NP_061821 Q9UJM3 ERRFI_HUMAN mitogen-inducible gene 6 protein 177 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity ovary(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) GTCTGTATCTGAGCTAGTTAG 0.473 NA 11 62 0 0 0.000978 0 0 SLC45A1 50651 broad.mit.edu 37 1 8390452 8390452 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:8390452G>T uc001apb.2 + 4 899 c.899G>T c.(898-900)CGG>CTG p.R300L SLC45A1_uc001apc.2_5'UTR NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 300 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGTGAGAAGCGGGCAGCCATG 0.687 NA 3 16 0.004672 0.00512029 0.004672 1 0 RERE 473 broad.mit.edu 37 1 8684419 8684419 + Missense_Mutation SNP G G A rs142952294 by1000genomes TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:8684419G>A uc001ape.2 - 4 1156 c.346C>T c.(346-348)CGG>TGG p.R116W RERE_uc001apf.2_Missense_Mutation_p.R116W|RERE_uc001aph.1_Missense_Mutation_p.R116W NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 116 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTTGGCCTCCGACTCTCGATA 0.378 NA 7 112 0 0 0.00308 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589657 11589657 + Missense_Mutation SNP G G A rs12096312 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:11589657G>A uc001ash.3 + 14 2981 c.2843G>A c.(2842-2844)CGC>CAC p.R948H NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 948 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TTCCACGGGCGCGTATGCATG 0.627 NA 7 46 0 0 0.001984 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853572 12853572 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:12853572C>A uc001auj.1 + 2 299 c.196C>A c.(196-198)CTG>ATG p.L66M NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 66 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCCTCCCTCTGGGATCACT 0.542 NA 23 91 7.07758e-08 9.98786e-08 0.004656 1 0 TAS1R2 80834 broad.mit.edu 37 1 19167002 19167002 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:19167002G>T uc001bba.1 - 6 1612 c.1611C>A c.(1609-1611)GCC>GCA p.A537A NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 537 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TATTCGGGCAGGCCTGGCATT 0.592 NA 4 34 0.00024832 0.000299541 0.009096 1 0 UBR4 23352 broad.mit.edu 37 1 19478267 19478267 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:19478267T>C uc001bbi.2 - 48 7087 c.7083A>G c.(7081-7083)ATA>ATG p.I2361M UBR4_uc001bbk.1_Missense_Mutation_p.I15M|UBR4_uc001bbl.1_Missense_Mutation_p.I298M|UBR4_uc001bbm.1_Missense_Mutation_p.I1573M NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2361 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGGCCCGTTCTATTGCTTGAG 0.512 NA 12 50 0 0 0.000978 0 0 UBXN10 127733 broad.mit.edu 37 1 20517691 20517691 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:20517691C>A uc001bdb.2 + 2 721 c.637C>A c.(637-639)CGC>AGC p.R213S NM_152376 NP_689589 Q96LJ8 UBX10_HUMAN UBX domain protein 10 213 UBX. ovary(1) 1 AAGGTTTGTACGCCATTTCCG 0.493 NA 7 56 0.00198382 0.00223792 0.001984 1 0 SERINC2 347735 broad.mit.edu 37 1 31898241 31898241 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:31898241G>T uc010ogh.1 + 4 670 c.469G>T c.(469-471)GGC>TGC p.G157C SERINC2_uc010ogg.1_Missense_Mutation_p.G154C|SERINC2_uc009vtw.1_Intron|SERINC2_uc001bst.2_Missense_Mutation_p.G153C|SERINC2_uc001bsu.2_Missense_Mutation_p.G98C|SERINC2_uc001bsv.2_Missense_Mutation_p.G98C NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 153 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) CATTCCTGACGGCTCCTTCAC 0.592 NA 10 37 2.32078e-09 3.49073e-09 0.003163 1 0 RBBP4 5928 broad.mit.edu 37 1 33133872 33133872 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:33133872C>A uc001bvr.2 + 4 516 c.357C>A c.(355-357)ATC>ATA p.I119I RBBP4_uc001bvs.2_Silent_p.I118I|RBBP4_uc010ohj.1_Intron|RBBP4_uc010ohk.1_Silent_p.I84I NM_005610 NP_005601 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 isoform a 119 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) AAATAGAAATCAAGATCAACC 0.378 NA 7 35 0.00198382 0.00223792 0.001984 1 0 CSMD2 114784 broad.mit.edu 37 1 34174722 34174722 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:34174722C>A uc001bxn.1 - 22 3452 c.3423G>T c.(3421-3423)AGG>AGT p.R1141S CSMD2_uc001bxm.1_Missense_Mutation_p.R1181S|CSMD2_uc001bxo.1_Missense_Mutation_p.R54S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1141 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTTCGAATGCCCTGGCTTTCA 0.438 NA 12 81 5.50884e-06 7.30846e-06 0.001368 1 0 THRAP3 9967 broad.mit.edu 37 1 36759490 36759490 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:36759490G>A uc001cae.3 + 8 2293 c.2069G>A c.(2068-2070)GGT>GAT p.G690D THRAP3_uc001caf.3_Missense_Mutation_p.G690D NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 690 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGAAAACATGGTTTGGCTCAT 0.348 Pancreas(129;785 1795 20938 23278 32581) NA T USP6 aneurysmal bone cysts 5 180 0 0 0.001168 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131791 40131791 + Nonsense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:40131791C>A uc001cdq.1 - 2 253 c.253G>T c.(253-255)GAA>TAA p.E85* NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 85 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTCTCATGTTCCAGCTGGTAG 0.483 NA 7 43 8.12818e-05 0.000100707 0.001984 1 0 ZCCHC11 23318 broad.mit.edu 37 1 52901131 52901131 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:52901131T>A uc001ctx.2 - 27 4400 c.4166A>T c.(4165-4167)CAG>CTG p.Q1389L ZCCHC11_uc001cty.2_Missense_Mutation_p.Q1390L|ZCCHC11_uc001ctz.2_Missense_Mutation_p.Q1385L|ZCCHC11_uc001cua.1_Missense_Mutation_p.Q307L NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 1389 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 GCGGACCAGCTGGGCTGCTAA 0.418 NA 9 36 0 0 0.006214 0 0 LEPR 3953 broad.mit.edu 37 1 66075681 66075681 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:66075681G>T uc001dci.2 + 13 2006 c.1804G>T c.(1804-1806)GAC>TAC p.D602Y LEPR_uc001dcg.2_Missense_Mutation_p.D602Y|LEPR_uc001dch.2_Missense_Mutation_p.D602Y|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.D602Y|LEPR_uc001dck.2_Missense_Mutation_p.D602Y NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 602 Extracellular (Potential).|Fibronectin type-III 2. 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) CCCAGTTCCAGACTTGTGTGC 0.408 NA 53 148 6.3091e-27 1.14725e-26 0.00361 1 0 GNG12 55970 broad.mit.edu 37 1 68173365 68173365 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:68173365G>A uc001dea.1 - 3 197 c.5C>T c.(4-6)TCC>TTC p.S2F NM_018841 NP_061329 Q9UBI6 GBG12_HUMAN G-protein gamma-12 subunit precursor 2 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 TGTTTTGCTGGACATCTTCAA 0.348 NA 35 237 0 0 0.003755 0 0 WLS 79971 broad.mit.edu 37 1 68659674 68659674 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:68659674G>T uc001def.1 - 2 614 c.343C>A c.(343-345)CAG>AAG p.Q115K uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.Q113K|WLS_uc001deg.1_Intron|WLS_uc001deh.1_Missense_Mutation_p.Q115K|WLS_uc009wbf.1_Missense_Mutation_p.Q70K NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 115 Lumenal (Potential).|Interacts with Wnt proteins (By similarity). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 ATGTCCAGCTGCAGGATAAAC 0.448 NA 8 68 2.17888e-05 2.81406e-05 0.006214 1 0 PTGER3 5733 broad.mit.edu 37 1 71512593 71512593 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:71512593T>C uc001dfg.1 - 1 899 c.668A>G c.(667-669)CAT>CGT p.H223R PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.H223R|PTGER3_uc001dfl.1_Missense_Mutation_p.H223R|PTGER3_uc009wbm.1_Missense_Mutation_p.H223R|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.H223R|PTGER3_uc009wbn.1_Missense_Mutation_p.H223R|PTGER3_uc009wbo.2_Missense_Mutation_p.H223R|PTGER3_uc001dfo.2_Missense_Mutation_p.H223R|PTGER3_uc001dfp.1_Missense_Mutation_p.H223R|PTGER3_uc001dfq.2_Missense_Mutation_p.H223R|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 223 Extracellular (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) GCCCCAGTTATGCGAAGAGCT 0.632 NA 8 93 0 0 0.008291 0 0 TNNI3K 51086 broad.mit.edu 37 1 74801830 74801830 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:74801830G>C uc001dgf.1 + 7 730 c.679G>C c.(679-681)GAT>CAT p.D227H TNNI3K_uc001dgc.1_Missense_Mutation_p.D328H|TNNI3K_uc001dgd.2_Missense_Mutation_p.D328H|TNNI3K_uc001dge.1_Missense_Mutation_p.D328H NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 227 ANK 5. 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 CAGCAAAGCAGATGGTAAGAT 0.348 NA 8 35 0 0 0.00308 0 0 C1orf173 127254 broad.mit.edu 37 1 75037607 75037607 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:75037607C>T uc001dgg.2 - 14 4006 c.3787G>A c.(3787-3789)GGA>AGA p.G1263R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1263 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 ACATCCACTCCTCCTTGCCCT 0.592 NA 13 122 0 0 0.001855 0 0 C1orf173 127254 broad.mit.edu 37 1 75038256 75038256 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:75038256C>G uc001dgg.2 - 14 3357 c.3138G>C c.(3136-3138)AGG>AGC p.R1046S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1046 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AAATTTCTTTCCTATCATCTT 0.453 NA 31 165 0 0 0.002096 0 0 C1orf173 127254 broad.mit.edu 37 1 75039035 75039035 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:75039035C>T uc001dgg.2 - 14 2578 c.2359G>A c.(2359-2361)GAC>AAC p.D787N NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 787 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGTACTATGTCAGCATCTCTG 0.522 NA 17 97 0 0 0.004007 0 0 TYW3 127253 broad.mit.edu 37 1 75204454 75204454 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:75204454G>A uc001dgn.2 + 3 425 c.336G>A c.(334-336)TTG>TTA p.L112L TYW3_uc010oqw.1_Intron|TYW3_uc010oqx.1_Intron|TYW3_uc010oqy.1_RNA NM_138467 NP_612476 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog isoform 112 tRNA processing methyltransferase activity ovary(2) 2 GTCGACAATTGCAGGATGCAC 0.328 NA 5 42 0 0 0.000602 0 0 LPHN2 23266 broad.mit.edu 37 1 82456781 82456781 + Silent SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:82456781A>T uc001dit.3 + 21 4345 c.4164A>T c.(4162-4164)CCA>CCT p.P1388P LPHN2_uc001dis.2_Silent_p.P368P|LPHN2_uc001diu.2_Silent_p.P1388P|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Silent_p.P1015P NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1444 Cytoplasmic (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) ggtgtattccagAAGGAGATG 0.184 NA 4 38 0 0 0.009096 0 0 PRKACB 5567 broad.mit.edu 37 1 84650823 84650823 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:84650823G>T uc001djj.2 + 5 641 c.377G>T c.(376-378)GGG>GTG p.G126V PRKACB_uc001djl.2_Missense_Mutation_p.G173V|PRKACB_uc010ort.1_Missense_Mutation_p.G133V|PRKACB_uc001djn.2_Missense_Mutation_p.G130V|PRKACB_uc010oru.1_Missense_Mutation_p.G114V|PRKACB_uc001djp.2_Missense_Mutation_p.G132V|PRKACB_uc001djq.2_Missense_Mutation_p.G96V|PRKACB_uc010orv.1_Missense_Mutation_p.G113V|PRKACB_uc001dji.2_Missense_Mutation_p.G126V|PRKACB_uc001djk.2_Missense_Mutation_p.G173V|PRKACB_uc009wcf.1_Missense_Mutation_p.G132V NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 126 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TATGTCCCTGGGGGTGAAATG 0.284 NA 43 124 3.19069e-20 5.67492e-20 0.00361 1 0 GBP6 163351 broad.mit.edu 37 1 89849285 89849285 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:89849285C>A uc001dnf.2 + 9 1714 c.1440C>A c.(1438-1440)GCC>GCA p.A480A GBP6_uc010ost.1_Silent_p.A350A NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 480 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) CAGATAAAGCCCTCACTGATA 0.473 NA 18 50 1.96292e-10 3.05948e-10 0.010504 1 0 DPYD 1806 broad.mit.edu 37 1 97981341 97981341 + Nonsense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:97981341G>A uc001drv.2 - 13 1818 c.1681C>T c.(1681-1683)CGA>TGA p.R561* NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 561 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AAAGCTCTTCGAATCATTGAT 0.388 NA 6 53 0 0 0.001984 0 0 COL11A1 1301 broad.mit.edu 37 1 103428212 103428212 + Silent SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:103428212T>A uc001dul.2 - 39 3339 c.3021A>T c.(3019-3021)GCA>GCT p.A1007A COL11A1_uc001duk.2_Silent_p.A203A|COL11A1_uc001dum.2_Silent_p.A1019A|COL11A1_uc001dun.2_Silent_p.A968A|COL11A1_uc009weh.2_Silent_p.A891A NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1007 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTTGTACCTTTGCACCTTCTT 0.463 NA 23 50 0 0 0.002299 0 0 KIAA1324 57535 broad.mit.edu 37 1 109743374 109743374 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:109743374C>T uc001dwq.2 + 22 2961 c.2825C>T c.(2824-2826)TCC>TTC p.S942F KIAA1324_uc009wex.1_Missense_Mutation_p.S892F|KIAA1324_uc009wey.2_Missense_Mutation_p.S855F|KIAA1324_uc010ovg.1_Missense_Mutation_p.S840F|KIAA1324_uc001dwr.2_Missense_Mutation_p.S592F NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 942 Cytoplasmic (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TACAAGTACTCCAAGCTGGTG 0.483 NA OREG0013630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 41 0 0 0.004482 0 0 KCNA2 3737 broad.mit.edu 37 1 111146070 111146070 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:111146070C>G uc001dzu.2 - 2 1831 c.1335G>C c.(1333-1335)AAG>AAC p.K445N KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.K445N NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 445 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) TTCTACTTTTCTTTAGGTCAG 0.438 Pancreas(18;568 735 10587 23710 36357) NA 20 134 0 0 0.002299 0 0 KCNA2 3737 broad.mit.edu 37 1 111147160 111147160 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:111147160C>A uc001dzu.2 - 2 741 c.245G>T c.(244-246)CGC>CTC p.R82L KCNA2_uc009wfv.1_Missense_Mutation_p.R82L|KCNA2_uc009wfw.2_Missense_Mutation_p.R82L NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 82 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) AAAGCTAGGGCGGTTCCGATC 0.478 Pancreas(18;568 735 10587 23710 36357) NA 11 70 6.40141e-05 8.01272e-05 0.000978 1 0 KCND3 3752 broad.mit.edu 37 1 112524479 112524479 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:112524479C>A uc001ebu.1 - 2 1350 c.870G>T c.(868-870)CGG>CGT p.R290R KCND3_uc001ebv.1_Silent_p.R290R NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 290 Helical; Voltage-sensor; Name=Segment S4; (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CGCGGAAGACCCGGAGCGTGA 0.597 NA 5 54 0.000602214 0.000706611 0.000602 1 0 HSD3B2 3284 broad.mit.edu 37 1 119962113 119962113 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:119962113G>T uc001ehs.2 + 2 988 c.215G>T c.(214-216)TGC>TTC p.C72F HSD3B2_uc001eht.2_Missense_Mutation_p.C72F|HSD3B2_uc001ehu.2_Missense_Mutation_p.C72F NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 72 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) AAAAGAGCCTGCCAGGACGTC 0.488 NA 15 43 2.61681e-11 4.18576e-11 0.00245 1 0 FLG 2312 broad.mit.edu 37 1 152285620 152285620 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:152285620G>T uc001ezu.1 - 3 1778 c.1742C>A c.(1741-1743)ACC>AAC p.T581N uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 581 Filaggrin 3.|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) TGAGTGCCTGGTGCCGTCTCC 0.562 NA Ichthyosis 83 328 1.72036e-36 3.16772e-36 0.00361 1 0 FLG 2312 broad.mit.edu 37 1 152285768 152285768 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:152285768G>T uc001ezu.1 - 3 1630 c.1594C>A c.(1594-1596)CAC>AAC p.H532N uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 532 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) GATTGCTCGTGGTGGGATCCC 0.597 NA Ichthyosis 56 513 1.93748e-29 3.54962e-29 0.00361 1 0 FLG2 388698 broad.mit.edu 37 1 152329306 152329306 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:152329306G>T uc001ezw.3 - 3 1029 c.956C>A c.(955-957)TCA>TAA p.S319* uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 319 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTAATTCCTGACTGACAGCC 0.483 NA 32 252 2.81731e-10 4.38182e-10 0.002096 1 0 KPRP 448834 broad.mit.edu 37 1 152733428 152733428 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:152733428G>A uc001fal.1 + 2 1422 c.1364G>A c.(1363-1365)TGT>TAT p.C455Y NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 455 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGGGCAGTGTGAGATTCCA 0.612 NA 31 96 0 0 0.002096 0 0 SPRR2B 6701 broad.mit.edu 37 1 153043164 153043164 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:153043164T>A uc001fbg.2 - 2 215 c.152A>T c.(151-153)CAG>CTG p.Q51L SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron NM_001017418 NP_001017418 P35325 SPR2B_HUMAN small proline-rich protein 2B 51 keratinization cornified envelope|cytoplasm 0 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ATATTTCTGCTGGCACTGCTG 0.587 NA 40 116 0 0 0.00361 0 0 SLC27A3 11000 broad.mit.edu 37 1 153747848 153747848 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:153747848C>A uc001fcz.2 + 1 81 c.16C>A c.(16-18)CGC>AGC p.R6S SLC27A3_uc009won.2_RNA NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 6 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding ovary(1) 1 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGTGTGCCAGCGCACGCGCGC 0.672 NA 6 58 0.00116845 0.00134087 0.001168 1 0 TTC24 164118 broad.mit.edu 37 1 156554984 156554984 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:156554984G>C uc009wsc.1 + 6 717 c.577G>C c.(577-579)GCA>CCA p.A193P NM_001105669 NP_001099139 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 473 binding pancreas(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAGAGGTCGGCAAACGTTCC 0.562 NA 3 43 0 0 0.009096 0 0 NES 10763 broad.mit.edu 37 1 156642540 156642540 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:156642540C>T uc001fpq.2 - 4 1573 c.1440G>A c.(1438-1440)AAG>AAA p.K480K NM_006617 NP_006608 P48681 NEST_HUMAN nestin 480 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATTCTCCATCCTTAGCCTCTA 0.587 NA 28 175 0 0 0.009535 0 0 CD5L 922 broad.mit.edu 37 1 157803102 157803102 + Missense_Mutation SNP G G T rs74121552 byFrequency TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:157803102G>T uc001frk.3 - 5 1062 c.919C>A c.(919-921)CGC>AGC p.R307S NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 307 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGCCAGATGCGGCCAACCCCA 0.582 NA 47 47 2.54085e-39 4.70218e-39 0.00361 1 0 KIRREL 55243 broad.mit.edu 37 1 158064446 158064446 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:158064446G>T uc001frn.3 + 15 2214 c.1810G>T c.(1810-1812)GGC>TGC p.G604C KIRREL_uc010pib.1_Missense_Mutation_p.G504C|KIRREL_uc009wsq.2_Missense_Mutation_p.G440C|KIRREL_uc001fro.3_Missense_Mutation_p.G418C|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 604 Cytoplasmic (Potential). DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CCCCACCAATGGCTACTACAA 0.627 NA 4 52 0.00024832 0.000299541 0.009096 1 0 CD1E 913 broad.mit.edu 37 1 158325207 158325207 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:158325207C>A uc001fse.2 + 3 712 c.473C>A c.(472-474)TCT>TAT p.S158Y CD1E_uc010pid.1_Missense_Mutation_p.S156Y|CD1E_uc010pie.1_Missense_Mutation_p.S59Y|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.S158Y|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.S158Y|CD1E_uc001fry.2_Missense_Mutation_p.S158Y|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.S158Y|CD1E_uc009wsv.2_Missense_Mutation_p.S59Y|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 158 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) TGGGAGCCATCTCCAGGAGCA 0.458 NA 37 120 1.66425e-11 2.69152e-11 0.004878 1 0 SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:158592861G>A uc001fst.1 - 43 6231 c.6032C>T c.(6031-6033)GCC>GTC p.A2011V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2011 Spectrin 19. 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) CAGCAGAGCGGCATAACGCTC 0.483 NA 6 468 0 0 0.001168 0 0 OR6N1 128372 broad.mit.edu 37 1 158736362 158736362 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:158736362C>A uc010piq.1 - 1 111 c.111G>T c.(109-111)ATG>ATT p.M37I NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CCAACACAGTCATGAGGTAAA 0.507 NA 5 42 3.59834e-05 4.59055e-05 0.001168 1 0 CD48 962 broad.mit.edu 37 1 160654959 160654959 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:160654959C>T uc001fwn.2 - 2 135 c.103G>A c.(103-105)GTG>ATG p.V35M CD48_uc001fwo.1_Missense_Mutation_p.V35M|CD48_uc001fwp.2_Missense_Mutation_p.V35M NM_001778 NP_001769 P09326 CD48_HUMAN CD48 molecule precursor 35 Ig-like C2-type 1. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding 0 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCGGAGACCACGGTCATATGT 0.512 NA 6 42 0 0 0.00308 0 0 HSPA7 3311 broad.mit.edu 37 1 161576686 161576686 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:161576686G>T uc010pkp.1 + 1 838 c.606G>T c.(604-606)CTG>CTT p.L202L NR_024151 RecName: Full=Putative heat shock 70 kDa protein 7; AltName: Full=Heat shock 70 kDa protein B; 0 TTTTTGACCTGGGTGGGGGCA 0.607 NA 11 72 1.49906e-05 1.95681e-05 0.00245 1 0 FCRLA 84824 broad.mit.edu 37 1 161681852 161681852 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:161681852T>A uc001gbe.2 + 5 939 c.697T>A c.(697-699)TAC>AAC p.Y233N FCRLA_uc001gbd.2_Missense_Mutation_p.Y227N|FCRLA_uc001gbf.2_Missense_Mutation_p.Y138N|FCRLA_uc001gbg.2_Missense_Mutation_p.Y87N|FCRLA_uc009wuo.2_Missense_Mutation_p.Y93N|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 210 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) CTTCTCCTTCTACAAGGATGG 0.562 NA 16 112 0 0 0.006122 0 0 DDR2 4921 broad.mit.edu 37 1 162724645 162724645 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:162724645G>T uc001gcf.2 + 6 882 c.417G>T c.(415-417)CAG>CAT p.Q139H DDR2_uc001gcg.2_Missense_Mutation_p.Q139H NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 139 Extracellular (Potential).|F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ATGGGAAACAGGTAGGAAGAA 0.493 NSCLC(161;314 2006 8283 19651 23192) NA 10 35 4.68919e-08 6.66887e-08 0.008291 1 0 DDR2 4921 broad.mit.edu 37 1 162724952 162724952 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:162724952G>A uc001gcf.2 + 7 889 c.424G>A c.(424-426)GAT>AAT p.D142N DDR2_uc001gcg.2_Missense_Mutation_p.D142N NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 142 Extracellular (Potential).|F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCAGGTGCTGGATGGAAATAG 0.458 NSCLC(161;314 2006 8283 19651 23192) NA 13 121 0 0 0.00245 0 0 LMX1A 4009 broad.mit.edu 37 1 165182967 165182967 + Missense_Mutation SNP G G T rs149908681 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:165182967G>T uc001gcy.1 - 4 801 c.580C>A c.(580-582)CGC>AGC p.R194S LMX1A_uc001gcz.1_Missense_Mutation_p.R194S|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 194 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) CGTTTGGGGCGCTTATGGTCC 0.502 NA 28 262 1.08312e-15 1.86736e-15 0.009535 1 0 ALDH9A1 223 broad.mit.edu 37 1 165638193 165638193 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:165638193C>T uc001gdh.1 - 8 1282 c.1177G>A c.(1177-1179)GAT>AAT p.D393N ALDH9A1_uc010pky.1_Missense_Mutation_p.D299N|ALDH9A1_uc010pkz.1_Missense_Mutation_p.D383N|ALDH9A1_uc010pla.1_Missense_Mutation_p.D299N NM_000696 NP_000687 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9A1 369 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) TAATATCCATCCTTTAATTTG 0.279 Ovarian(179;1583 2014 18106 33801 42447) NA 9 88 0 0 0.008291 0 0 GPR161 23432 broad.mit.edu 37 1 168065747 168065747 + Silent SNP T T A rs28679686 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:168065747T>A uc001gfc.2 - 5 1412 c.1098A>T c.(1096-1098)ACA>ACT p.T366T GPR161_uc001gfb.2_Silent_p.T234T|GPR161_uc010pll.1_Silent_p.T276T|GPR161_uc010plm.1_Silent_p.T252T|GPR161_uc009wvo.2_Silent_p.T383T|GPR161_uc001gfd.2_Silent_p.T366T|GPR161_uc010pln.1_Silent_p.T386T|GPR161_uc001gfe.1_Silent_p.T366T NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 366 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) CCAAGTTACCTGTGATCCTGT 0.517 NA 5 52 0 0 0.001168 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668531 176668531 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:176668531T>G uc001gkz.2 + 8 4206 c.3042T>G c.(3040-3042)GAT>GAG p.D1014E PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1014 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 TGCACGTGGATGGGAAGGTGT 0.517 NA 27 152 0 0 0.004656 0 0 RGS8 85397 broad.mit.edu 37 1 182635138 182635138 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:182635138C>A uc010pnw.1 - 5 417 c.159G>T c.(157-159)TGG>TGT p.W53C RGS8_uc001gpn.1_Missense_Mutation_p.W53C|RGS8_uc001gpm.1_Missense_Mutation_p.W71C NM_001102450 NP_001095920 P57771 RGS8_HUMAN regulator of G-protein signalling 8 isoform 2 53 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1) 1 AGGAATCTGCCCACCTCGTAG 0.398 Ovarian(189;1262 3804 41973) NA 36 101 5.8336e-16 1.01051e-15 0.003271 1 0 HMCN1 83872 broad.mit.edu 37 1 186077635 186077635 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:186077635C>T uc001grq.1 + 71 11124 c.10895C>T c.(10894-10896)ACT>ATT p.T3632I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3632 Ig-like C2-type 35. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CGGGATATCACTGTGTTACGG 0.423 NA 32 79 0 0 0.002836 0 0 TPR 7175 broad.mit.edu 37 1 186322924 186322925 + Missense_Mutation DNP CA CA TT TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:186322924_186322925CA>TT uc001grv.2 - 18 2526_2527 c.2229_2230TG>AA c.(2227-2232)CATGAG>CAAAAG p.743_744HE>QK NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 743_744 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TGATTTCTCTCATGAAGTGATG 0.361 NA T NTRK1 papillary thyroid 4 121 0 0 0.004672 0 0 CHIT1 1118 broad.mit.edu 37 1 203186156 203186156 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:203186156T>A uc001gzn.2 - 11 1358 c.1262A>T c.(1261-1263)CAG>CTG p.Q421L FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.Q183L|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.Q412L NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 421 Chitin-binding type-2. chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 AGCTTTGCCCTGGCAGAACGT 0.602 NA OREG0014113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 81 0 0 0.006122 0 0 NEK2 4751 broad.mit.edu 37 1 211848791 211848791 + Silent SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:211848791A>G uc001hir.1 - 1 177 c.31T>C c.(31-33)TTG>CTG p.L11L NEK2_uc001hiq.1_Silent_p.L11L|NEK2_uc001his.3_Silent_p.L11L|NEK2_uc001hit.1_RNA NM_002497 NP_002488 P51955 NEK2_HUMAN NIMA-related kinase 2 11 Protein kinase. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) ATGGTGTACAACACTTCATAG 0.652 NA 21 72 0 0 0.001882 0 0 USH2A 7399 broad.mit.edu 37 1 215802171 215802171 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:215802171G>T uc001hku.1 - 71 15891 c.15504C>A c.(15502-15504)GGC>GGA p.G5168G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 5168 Cytoplasmic (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CACTGTTGTGGCCCATGATGG 0.493 NA HNSCC(13;0.011) 36 71 6.70999e-13 1.10722e-12 0.004289 1 0 USH2A 7399 broad.mit.edu 37 1 216173810 216173810 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:216173810C>A uc001hku.1 - 33 6807 c.6420G>T c.(6418-6420)CAG>CAT p.Q2140H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2140 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGGTGGCAGCTGTGCTGTGT 0.463 NA HNSCC(13;0.011) 11 59 0.000673444 0.000783897 0.008291 1 0 USH2A 7399 broad.mit.edu 37 1 216405371 216405371 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:216405371G>C uc001hku.1 - 14 3304 c.2917C>G c.(2917-2919)CAA>GAA p.Q973E USH2A_uc001hkv.2_Missense_Mutation_p.Q973E NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 973 Extracellular (Potential).|Laminin EGF-like 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAAGCATCTTGGCAAACACAC 0.443 NA HNSCC(13;0.011) 12 122 0 0 0.001855 0 0 USH2A 7399 broad.mit.edu 37 1 216420237 216420237 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:216420237G>T uc001hku.1 - 13 2886 c.2499C>A c.(2497-2499)AAC>AAA p.N833K USH2A_uc001hkv.2_Missense_Mutation_p.N833K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 833 Extracellular (Potential).|Laminin EGF-like 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTAGGTAGAAGTTTCCCTCCA 0.463 NA HNSCC(13;0.011) 16 116 4.7546e-09 7.04993e-09 0.004007 1 0 EXOC8 149371 broad.mit.edu 37 1 231472329 231472329 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:231472329C>T uc001huq.2 - 1 1250 c.1163G>A c.(1162-1164)CGA>CAA p.R388Q NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 388 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) AGTGAGCTGTCGAACTCGCTC 0.532 NA 6 54 0 0 0.001168 0 0 ACTN2 88 broad.mit.edu 37 1 236881160 236881160 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:236881160C>A uc001hyf.2 + 2 333 c.129C>A c.(127-129)ACC>ACA p.T43T ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.T43T NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 43 CH 1.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CTTTGCAGACCTTCACTGCCT 0.493 NA 6 16 0.00198382 0.00223792 0.001984 1 0 RYR2 6262 broad.mit.edu 37 1 237620007 237620007 + Silent SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:237620007C>G uc001hyl.1 + 16 1704 c.1584C>G c.(1582-1584)TCC>TCG p.S528S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 528 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTGGAAATCCATTCTGAATT 0.413 NA 15 87 0 0 0.00245 0 0 RYR2 6262 broad.mit.edu 37 1 237664013 237664013 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:237664013T>A uc001hyl.1 + 21 2326 c.2206T>A c.(2206-2208)TGT>AGT p.C736S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 736 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCCAATAGGTTGTATTGCTCG 0.398 NA 69 274 0 0 0.00361 0 0 RYR2 6262 broad.mit.edu 37 1 237806676 237806676 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:237806676G>C uc001hyl.1 + 48 7391 c.7271G>C c.(7270-7272)AGA>ACA p.R2424T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2424 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCCATTTTGAGATCCCTCATT 0.423 NA 18 141 0 0 0.001882 0 0 RYR2 6262 broad.mit.edu 37 1 237817625 237817625 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:237817625G>T uc001hyl.1 + 52 7996 c.7876G>T c.(7876-7878)GGG>TGG p.G2626W NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2626 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCTGCCTGGAGGGTGGGGAAA 0.383 NA 12 66 4.36969e-10 6.7106e-10 0.001855 1 0 CHRM3 1131 broad.mit.edu 37 1 240072465 240072465 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:240072465C>A uc001hyp.2 + 5 2493 c.1714C>A c.(1714-1716)CAG>AAG p.Q572K NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 572 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GCGCAAGCAGCAGTACCAGCA 0.493 NA 8 50 2.17888e-05 2.81406e-05 0.006214 1 0 AKT3 10000 broad.mit.edu 37 1 243736348 243736348 + Silent SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:243736348C>G uc001iab.1 - 8 780 c.699G>C c.(697-699)CTG>CTC p.L233L AKT3_uc001hzz.1_Silent_p.L233L NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 233 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) AATGGAAAAACAGCTGCAGGG 0.433 NA 3 51 0 0 0.004672 0 0 OR2L2 26246 broad.mit.edu 37 1 248202135 248202135 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:248202135C>A uc001idw.2 + 1 662 c.566C>A c.(565-567)ACA>AAA p.T189K OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTAGCCTGCACAGACACTTGG 0.458 NA 34 216 3.62531e-18 6.37043e-18 0.004289 1 0 OR2L13 284521 broad.mit.edu 37 1 248263100 248263100 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:248263100G>T uc001ids.2 + 3 760 c.423G>T c.(421-423)GTG>GTT p.V141V NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TGATGTGTGTGAAGATGATTG 0.493 NA 45 185 7.88023e-25 1.42585e-24 0.00361 1 0 OR2M1P 388762 broad.mit.edu 37 1 248285550 248285550 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:248285550C>T uc001idy.1 + 1 113 c.113C>T c.(112-114)TCA>TTA p.S38L NR_002141 RecName: Full=Olfactory receptor 2M5; 0 TTCTGTGTATCACTGCTTGGC 0.463 NA 23 216 0 0 0.00333 0 0 OR2M3 127062 broad.mit.edu 37 1 248367167 248367167 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:248367167C>A uc010pzg.1 + 1 798 c.798C>A c.(796-798)CGC>CGA p.R266R NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CATCTGATCGCTCCCCAACAC 0.502 NA 17 154 5.35267e-07 7.3966e-07 0.007413 1 0 DIP2C 22982 broad.mit.edu 37 10 465069 465069 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:465069C>G uc001ifp.2 - 6 765 c.675G>C c.(673-675)CAG>CAC p.Q225H NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 225 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CCGTGGAACCCTGCGGTCTCT 0.532 NA 10 77 0 0 0.001368 0 0 CAMK1D 57118 broad.mit.edu 37 10 12870807 12870807 + Missense_Mutation SNP C C T rs148446769 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:12870807C>T uc001ilo.2 + 11 1314 c.1079C>T c.(1078-1080)TCG>TTG p.S360L NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 360 Ser-rich. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) ATTTCTTCTTCGTCGGGGGTC 0.592 NA 6 53 0 0 0.004482 0 0 ARMC4 55130 broad.mit.edu 37 10 28228927 28228927 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:28228927G>A uc009xky.2 - 14 2094 c.1996C>T c.(1996-1998)CGG>TGG p.R666W ARMC4_uc010qds.1_Missense_Mutation_p.R191W|ARMC4_uc010qdt.1_Missense_Mutation_p.R358W|ARMC4_uc001itz.2_Missense_Mutation_p.R666W NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 666 ARM 4. binding ovary(4)|skin(2) 6 ATTGCAGCCCGGTAGTTTTCC 0.373 NA 5 38 0 0 0.000602 0 0 BAMBI 25805 broad.mit.edu 37 10 28970327 28970327 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:28970327C>T uc001iuj.1 + 2 620 c.217C>T c.(217-219)CTT>TTT p.L73F BAMBI_uc001iui.2_Missense_Mutation_p.L73F NM_012342 NP_036474 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 73 Extracellular (Potential). cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(4) 4 CCTGGACTCTCTTGCAAGCAC 0.498 NA 14 55 0 0 0.004007 0 0 BMS1 9790 broad.mit.edu 37 10 43318582 43318582 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:43318582C>T uc001jaj.2 + 20 3507 c.3149C>T c.(3148-3150)GCC>GTC p.A1050V NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1050 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TTTAATTCTGCCTTGGAAGTG 0.413 NA 17 119 0 0 0.006122 0 0 ZNF22 7570 broad.mit.edu 37 10 45498928 45498928 + Nonsense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:45498928C>T uc001jbw.2 + 2 355 c.112C>T c.(112-114)CGA>TGA p.R38* C10orf25_uc010qff.1_5'Flank|C10orf25_uc001jbv.1_5'Flank|uc001jbx.1_RNA NM_006963 NP_008894 P17026 ZNF22_HUMAN zinc finger protein 22 (KOX 15) 38 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding breast(1)|kidney(1) 2 Prostate(175;0.0352)|all_neural(218;0.202) CATGACTATTCGATTTGACTC 0.453 NA 8 61 0 0 0.00308 0 0 OGDHL 55753 broad.mit.edu 37 10 50944420 50944420 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:50944420T>C uc001jie.2 - 21 2879 c.2737A>G c.(2737-2739)ATC>GTC p.I913V OGDHL_uc009xog.2_Missense_Mutation_p.I940V|OGDHL_uc010qgt.1_Missense_Mutation_p.I856V|OGDHL_uc010qgu.1_Missense_Mutation_p.I704V NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 913 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 AGGCGCGTGATGGCCACTTTC 0.632 NA 14 74 0 0 0.003163 0 0 PCDH15 65217 broad.mit.edu 37 10 55569195 55569195 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:55569195T>A uc010qhs.1 - 37 5025 c.4630A>T c.(4630-4632)ACA>TCA p.T1544S PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.T1537S|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTCTTCCATGTTGTGTATGTA 0.403 NA HNSCC(58;0.16) 20 146 0 0 0.008871 0 0 PCDH15 65217 broad.mit.edu 37 10 55600099 55600099 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:55600099C>T uc001jju.1 - 29 4359 c.3964G>A c.(3964-3966)GAT>AAT p.D1322N PCDH15_uc010qhq.1_Missense_Mutation_p.D1327N|PCDH15_uc010qhr.1_Missense_Mutation_p.D1322N|PCDH15_uc010qhs.1_Missense_Mutation_p.D1334N|PCDH15_uc010qht.1_Missense_Mutation_p.D1329N|PCDH15_uc010qhu.1_Missense_Mutation_p.D1322N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1322N|PCDH15_uc010qhw.1_Missense_Mutation_p.D1285N|PCDH15_uc010qhx.1_Missense_Mutation_p.D1251N|PCDH15_uc010qhy.1_Missense_Mutation_p.D1327N|PCDH15_uc010qhz.1_Missense_Mutation_p.D1322N|PCDH15_uc010qia.1_Missense_Mutation_p.D1300N|PCDH15_uc010qib.1_Missense_Mutation_p.D1300N NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1322 Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCATTTCTATCGATGGCTCTG 0.413 NA HNSCC(58;0.16) 40 116 0 0 0.00874 0 0 PCDH15 65217 broad.mit.edu 37 10 55782676 55782676 + Silent SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:55782676A>T uc001jju.1 - 19 2897 c.2502T>A c.(2500-2502)GCT>GCA p.A834A PCDH15_uc010qhq.1_Silent_p.A839A|PCDH15_uc010qhr.1_Silent_p.A834A|PCDH15_uc010qhs.1_Silent_p.A846A|PCDH15_uc010qht.1_Silent_p.A841A|PCDH15_uc010qhu.1_Silent_p.A834A|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.A834A|PCDH15_uc010qhw.1_Silent_p.A797A|PCDH15_uc010qhx.1_Silent_p.A763A|PCDH15_uc010qhy.1_Silent_p.A839A|PCDH15_uc010qhz.1_Silent_p.A834A|PCDH15_uc010qia.1_Silent_p.A812A|PCDH15_uc010qib.1_Silent_p.A812A|PCDH15_uc001jjw.2_Silent_p.A834A NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 834 Extracellular (Potential).|Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGGTAGTCCCAGCTGGCAAAT 0.353 NA HNSCC(58;0.16) 37 95 0 0 0.003214 0 0 IPMK 253430 broad.mit.edu 37 10 59956367 59956367 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:59956367C>G uc001jkb.2 - 6 1044 c.721G>C c.(721-723)GAA>CAA p.E241Q NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 241 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 TTCTGGTTTTCAAACCACTGC 0.363 NA 15 42 0 0 0.00245 0 0 PBLD 64081 broad.mit.edu 37 10 70048269 70048269 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:70048269C>A uc001jns.1 - 8 865 c.662G>T c.(661-663)TGG>TTG p.W221L PBLD_uc001jnr.1_Missense_Mutation_p.W188L|PBLD_uc001jnt.1_Missense_Mutation_p.W221L|PBLD_uc001jnu.1_Missense_Mutation_p.W221L|PBLD_uc001jnv.1_3'UTR NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 221 biosynthetic process isomerase activity skin(2)|ovary(1) 3 CACACCAACCCACGGTGCAAA 0.458 NA 7 47 0.00198382 0.00223792 0.001984 1 0 CDH23 64072 broad.mit.edu 37 10 73498295 73498295 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:73498295G>A uc001jrx.3 + 33 4627 c.4250G>A c.(4249-4251)CGG>CAG p.R1417Q C10orf105_uc001jsb.1_5'Flank|CDH23_uc001jsc.1_Missense_Mutation_p.R224Q NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1417 Cadherin 13.|Extracellular (Potential). R -> W. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 AACAGCCCCCGGTTTGACTTC 0.612 NA 7 33 0 0 0.004482 0 0 DLG5 9231 broad.mit.edu 37 10 79601669 79601669 + Silent SNP C C A rs138228867 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:79601669C>A uc001jzk.2 - 7 1477 c.1407G>T c.(1405-1407)GCG>GCT p.A469A DLG5_uc001jzj.2_Silent_p.A224A|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.A73A NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 469 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CCTCATTGGCCGCCTTCTTCT 0.617 NA 6 46 0.00307968 0.00345283 0.00308 1 0 PLCE1 51196 broad.mit.edu 37 10 95993841 95993841 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:95993841C>A uc001kjk.2 + 6 2620 c.1986C>A c.(1984-1986)TTC>TTA p.F662L PLCE1_uc010qnx.1_Missense_Mutation_p.F662L|PLCE1_uc001kjm.2_Missense_Mutation_p.F354L NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 662 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TGTGGCAGTTCATGGACCAGT 0.423 NA 9 43 7.48243e-07 1.02813e-06 0.006214 1 0 SORBS1 10580 broad.mit.edu 37 10 97144023 97144023 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:97144023G>A uc001kkp.2 - 14 1425 c.1380C>T c.(1378-1380)TAC>TAT p.Y460Y SORBS1_uc001kkk.2_Silent_p.Y38Y|SORBS1_uc001kkl.2_Silent_p.Y62Y|SORBS1_uc001kkn.2_Silent_p.Y247Y|SORBS1_uc001kkm.2_Silent_p.Y316Y|SORBS1_uc001kko.2_Silent_p.Y482Y|SORBS1_uc001kkq.2_Silent_p.Y345Y|SORBS1_uc001kkr.2_Silent_p.Y250Y|SORBS1_uc001kks.2_Silent_p.Y250Y|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.Y291Y|SORBS1_uc001kkv.2_Silent_p.Y382Y|SORBS1_uc001kkw.2_Silent_p.Y414Y|SORBS1_uc010qoe.1_Silent_p.Y259Y|SORBS1_uc010qof.1_Silent_p.Y612Y NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 460 SoHo. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ATCTGGGAGAGTACAGATCTG 0.428 NA 23 90 0 0 0.004656 0 0 HPSE2 60495 broad.mit.edu 37 10 100995424 100995424 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:100995424G>C uc001kpn.1 - 1 196 c.136C>G c.(136-138)CCC>GCC p.P46A HPSE2_uc009xwc.1_Missense_Mutation_p.P36A|HPSE2_uc001kpo.1_Missense_Mutation_p.P36A|HPSE2_uc009xwd.1_Missense_Mutation_p.P36A NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 46 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) ACAGGCAAGGGTCTCCTGTCT 0.572 NA 21 161 0 0 0.001882 0 0 SEC31B 25956 broad.mit.edu 37 10 102249088 102249088 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:102249088T>A uc001krc.1 - 23 3194 c.3092A>T c.(3091-3093)CAA>CTA p.Q1031L SEC31B_uc010qpo.1_Missense_Mutation_p.Q1030L|SEC31B_uc001krd.1_Missense_Mutation_p.Q568L|SEC31B_uc001krf.1_Missense_Mutation_p.Q463L|SEC31B_uc001kre.1_Missense_Mutation_p.Q463L NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 1031 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AAGAATCCCTTGTAGCTCAGG 0.522 NA 5 28 0 0 0.000602 0 0 SORCS1 114815 broad.mit.edu 37 10 108489838 108489838 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:108489838C>A uc001kym.2 - 6 1002 c.994G>T c.(994-996)GTG>TTG p.V332L SORCS1_uc001kyl.2_Missense_Mutation_p.V332L|SORCS1_uc009xxs.2_Missense_Mutation_p.V332L|SORCS1_uc001kyn.1_Missense_Mutation_p.V332L|SORCS1_uc001kyo.2_Missense_Mutation_p.V332L NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 332 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCAAGATGCACAAGGTCTGGT 0.388 NA 4 52 4.096e-09 6.09812e-09 0.001168 1 0 NRAP 4892 broad.mit.edu 37 10 115374006 115374006 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:115374006G>T uc001laj.2 - 29 3400 c.3236C>A c.(3235-3237)TCC>TAC p.S1079Y NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.S1044Y|NRAP_uc001lal.3_Missense_Mutation_p.S1079Y NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1079 Nebulin 28. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAAGCTCCGGGAACCAAGCAT 0.507 NA 18 187 1.00905e-13 1.70744e-13 0.008871 1 0 C10orf81 79949 broad.mit.edu 37 10 115531801 115531801 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:115531801G>A uc001lat.1 + 7 1169 c.607G>A c.(607-609)GTG>ATG p.V203M C10orf81_uc001lar.1_Missense_Mutation_p.V209M|C10orf81_uc009xyc.1_Missense_Mutation_p.V121M|C10orf81_uc001las.1_Missense_Mutation_p.V121M|C10orf81_uc001lau.1_Missense_Mutation_p.V23M NM_024889 NP_079165 Q5SXH7 CJ081_HUMAN hypothetical protein LOC79949 203 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) CACTCAAGATGTGAAGGAAGA 0.323 NA 40 101 0 0 0.00874 0 0 C10orf118 55088 broad.mit.edu 37 10 115922587 115922587 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:115922587C>A uc001lbb.1 - 2 1093 c.441G>T c.(439-441)AAG>AAT p.K147N C10orf118_uc001lbc.1_Missense_Mutation_p.K147N|C10orf118_uc009xye.1_RNA|C10orf118_uc001lbd.2_Missense_Mutation_p.K147N|C10orf118_uc001lbe.2_Missense_Mutation_p.K147N NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN CTCL tumor antigen L14-2 147 ovary(2) 2 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) AAATAAATTTCTTGGTGCAGT 0.358 NA 18 134 8.28177e-16 1.4312e-15 0.007413 1 0 PNLIPRP3 119548 broad.mit.edu 37 10 118196236 118196236 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:118196236C>T uc001lcl.3 + 2 164 c.63C>T c.(61-63)TGC>TGT p.C21C NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 21 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AAGAAGTTTGCTATGAAAGGT 0.423 NA 13 104 0 0 0.00245 0 0 TACC2 10579 broad.mit.edu 37 10 123844295 123844295 + Silent SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:123844295T>C uc001lfv.2 + 4 2640 c.2280T>C c.(2278-2280)GAT>GAC p.D760D TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.D760D|TACC2_uc010qtv.1_Silent_p.D760D NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 760 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CGTCCCCAGATCAACCCCGCG 0.607 NA 12 82 0 0 0.001855 0 0 CUZD1 50624 broad.mit.edu 37 10 124598650 124598650 + Missense_Mutation SNP C C T rs143659470 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:124598650C>T uc001lgq.2 - 3 663 c.331G>A c.(331-333)GAC>AAC p.D111N CUZD1_uc001lgp.2_5'Flank|CUZD1_uc009yad.2_5'Flank|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.D111N|CUZD1_uc010qtz.1_Missense_Mutation_p.D111N NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 111 CUB 1.|Extracellular (Potential). cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GGAACATAGTCGTTTTTACTG 0.408 NA 70 190 0 0 0.00361 0 0 FAM196A 642938 broad.mit.edu 37 10 128974033 128974033 + Silent SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:128974033G>C uc001lju.1 - 1 668 c.627C>G c.(625-627)CTC>CTG p.L209L DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.L209L|FAM196A_uc001ljv.1_Silent_p.L209L|FAM196A_uc009yap.1_Silent_p.L209L NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 209 ovary(2) 2 TGGAGTTTTGGAGCGCAGCTT 0.612 NA 11 22 0 0 0.00245 0 0 DPYSL4 10570 broad.mit.edu 37 10 134013942 134013942 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr10:134013942C>A uc009ybb.2 + 9 1048 c.894C>A c.(892-894)GCC>GCA p.A298A NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 298 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGGCCAAGGCCGCAGCCTTCG 0.652 NA 18 28 5.03518e-11 8.019e-11 0.007413 1 0 MUC5B 727897 broad.mit.edu 37 11 1271325 1271325 + Silent SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:1271325T>A uc009ycr.1 + 51 14760 c.14634T>A c.(14632-14634)ACT>ACA p.T4878T MUC5B_uc001ltb.2_Silent_p.T4408T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4405 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTGCAGCCACTGGCCCCACGG 0.652 NA 19 71 0 0 0.002299 0 0 OR52K2 119774 broad.mit.edu 37 11 4470602 4470602 + Silent SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:4470602A>T uc001lyz.1 + 1 33 c.33A>T c.(31-33)CCA>CCT p.P11P NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TAACACATCCAACTGCCTTCT 0.493 NA 7 44 0 0 0.00308 0 0 OR51A7 119687 broad.mit.edu 37 11 4929527 4929527 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:4929527T>A uc010qyq.1 + 1 928 c.928T>A c.(928-930)TGT>AGT p.C310S NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTTAATGTATGTGGGAGATA 0.388 NA 7 50 0 0 0.00308 0 0 OR51L1 119682 broad.mit.edu 37 11 5021145 5021145 + Silent SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:5021145A>G uc010qyu.1 + 1 933 c.933A>G c.(931-933)CTA>CTG p.L311L NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTTTGTCCTAAGGAGGAGGT 0.408 NA 12 52 0 0 0.000978 0 0 OR52A5 390054 broad.mit.edu 37 11 5152927 5152927 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:5152927T>A uc010qyx.1 - 1 946 c.946A>T c.(946-948)ACT>TCT p.T316S NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AACGATCAAGTTACTTTTTTG 0.348 NA 6 49 0 0 0.001168 0 0 OR51I1 390063 broad.mit.edu 37 11 5462206 5462206 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:5462206T>A uc010qze.1 - 1 539 c.539A>T c.(538-540)TAC>TTC p.Y180F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGAGACAGTAGGAGTGATG 0.448 NA 6 34 0 0 0.00308 0 0 OR56A3 390083 broad.mit.edu 37 11 5969356 5969356 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:5969356G>A uc010qzt.1 + 1 780 c.780G>A c.(778-780)CTG>CTA p.L260L NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 260 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATCCTTCTGGTTTTTGTCC 0.527 NA 25 124 0 0 0.004656 0 0 ZNF214 7761 broad.mit.edu 37 11 7021692 7021692 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:7021692G>A uc001mfa.2 - 3 1525 c.1222C>T c.(1222-1224)CAC>TAC p.H408Y ZNF214_uc010ray.1_Missense_Mutation_p.H408Y|ZNF214_uc009yfh.1_Missense_Mutation_p.H408Y NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 408 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCTCCTGTGTGTACTAACTGA 0.418 Ovarian(22;251 657 736 21522 46864) NA 20 83 0 0 0.008871 0 0 IGSF22 283284 broad.mit.edu 37 11 18738526 18738526 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:18738526C>T uc009yht.2 - 10 1185 c.995G>A c.(994-996)GGA>GAA p.G332E IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 332 ovary(4)|large_intestine(2)|kidney(1) 7 CTTCATCTCTCCCAGGAACTT 0.537 NA 4 49 0 0 0.009096 0 0 F2 2147 broad.mit.edu 37 11 46740807 46740807 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:46740807C>A uc001ndf.3 + 1 65 c.22C>A c.(22-24)CAG>AAG p.Q8K F2_uc001ndg.3_RNA NM_000506 NP_000497 P00734 THRB_HUMAN coagulation factor II preproprotein 8 activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity ovary(3) 3 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CCGAGGCTTGCAGCTGCCTGG 0.582 Esophageal Squamous(147;1147 1808 2148 38609 51144) NA 3 22 1.024e-07 1.44228e-07 0.000602 1 0 OR4C6 219432 broad.mit.edu 37 11 55433224 55433224 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:55433224C>A uc001nht.3 + 3 847 c.582C>A c.(580-582)GGC>GGA p.G194G OR4C6_uc010rik.1_Silent_p.G194G NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 194 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 ACATCCTGGGCCTCTTAGTTA 0.443 NA 31 84 1.06801e-11 1.73493e-11 0.009535 1 0 OR5D13 390142 broad.mit.edu 37 11 55541472 55541472 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:55541472G>T uc010ril.1 + 1 559 c.559G>T c.(559-561)GTT>TTT p.V187F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) CTCTGTAATTGTTTCTGCCTC 0.383 NA 34 101 2.42023e-17 4.20235e-17 0.003271 1 0 OR5I1 10798 broad.mit.edu 37 11 55703126 55703126 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:55703126T>A uc010ris.1 - 1 751 c.751A>T c.(751-753)ACG>TCG p.T251S NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGGTAGATCGTCACTGAAGTC 0.428 NA 3 30 0 0 0.009096 0 0 OR8H3 390152 broad.mit.edu 37 11 55890084 55890084 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:55890084C>G uc001nii.1 + 1 236 c.236C>G c.(235-237)ACA>AGA p.T79R NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) ACTGTCGTCACACCTAAAACC 0.433 NA 47 413 0 0 0.00361 0 0 OR5J2 282775 broad.mit.edu 37 11 55944722 55944722 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:55944722C>G uc010rjb.1 + 1 629 c.629C>G c.(628-630)ACC>AGC p.T210S NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) GCCATGGCCACCTTCTTGACT 0.473 NA 11 68 0 0 0.000978 0 0 OR5T1 390155 broad.mit.edu 37 11 56043396 56043397 + Missense_Mutation DNP GG GG TT rs113612396 byFrequency TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:56043396_56043397GG>TT uc001nio.1 + 1 282_283 c.282_283GG>TT c.(280-285)TTGGTC>TTTTTC p.94_95LV>FF NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 94_95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) CAAAAATGTTGGTCAATTTCCT 0.376 NA 32 101 0 0 0.004672 0 0 OR1S2 219958 broad.mit.edu 37 11 57970951 57970951 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:57970951T>C uc010rkb.1 - 1 703 c.703A>G c.(703-705)ATC>GTC p.I235V NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) ACAGCTCTGATGATGCAGACA 0.438 NA 13 39 0 0 0.001368 0 0 OR10V1 390201 broad.mit.edu 37 11 59481191 59481191 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:59481191G>T uc001nof.1 - 1 128 c.128C>A c.(127-129)GCT>GAT p.A43D NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCAATTGTAGCATTTCCACC 0.443 NA 11 31 6.40141e-05 8.01272e-05 0.000978 1 0 TUT1 64852 broad.mit.edu 37 11 62358944 62358944 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:62358944T>C uc001nto.2 - 1 166 c.128A>G c.(127-129)GAT>GGT p.D43G NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 5 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 GACATCCGAATCCACCGCCGC 0.622 NA 7 34 0 0 0.00308 0 0 CHRM1 1128 broad.mit.edu 37 11 62677634 62677634 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:62677634G>A uc001nwi.2 - 2 1340 c.939C>T c.(937-939)GCC>GCT p.A313A NM_000738 NP_000729 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 313 Cytoplasmic (Potential). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding 0 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) GCTTGGTGGGGGCCTGTGCCT 0.617 NA 6 76 0 0 0.001168 0 0 SPDYC 387778 broad.mit.edu 37 11 64940419 64940419 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:64940419G>A uc010rnz.1 + 6 781 c.781G>A c.(781-783)GGT>AGT p.G261S NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 261 cell cycle nucleus protein kinase binding 0 AAACGCCTGGGGTGGGGACTT 0.567 NA 11 75 0 0 0.000978 0 0 LRP5 4041 broad.mit.edu 37 11 68183797 68183797 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:68183797G>A uc001ont.2 + 13 2904 c.2829G>A c.(2827-2829)CCG>CCA p.P943P LRP5_uc009ysg.2_Silent_p.P353P NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 943 Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CTCCTCTAGCGCCCACCACCT 0.602 NA 32 27 0 0 0.005524 0 0 PCF11 51585 broad.mit.edu 37 11 82893518 82893518 + Silent SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:82893518T>C uc001ozx.3 + 14 4746 c.4401T>C c.(4399-4401)ATT>ATC p.I1467I NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 1467 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 AAAATGCTATTAGAGTAGATG 0.313 NA 11 30 0 0 0.008291 0 0 FAT3 120114 broad.mit.edu 37 11 92532295 92532295 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:92532295G>A uc001pdj.3 + 9 6133 c.6116G>A c.(6115-6117)GGA>GAA p.G2039E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2039 Extracellular (Potential).|Cadherin 18. 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) CAGACGACTGGAGTCCCCTTT 0.483 NA TCGA Ovarian(4;0.039) 9 40 0 0 0.004482 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117787940 117787940 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:117787940C>A uc001prs.1 - 3 594 c.501G>T c.(499-501)CCG>CCT p.P167P TMPRSS13_uc009yzr.1_Intron|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.P167P NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 162 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) ACCCGATGAGCGGTAGCTGCT 0.627 NA 12 16 0.00185496 0.00211871 0.001855 1 0 HMBS 3145 broad.mit.edu 37 11 118960402 118960402 + Silent SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:118960402G>C uc001puz.1 + 6 433 c.276G>C c.(274-276)CTG>CTC p.L92L HMBS_uc009zao.1_Silent_p.L37L|HMBS_uc001pvc.1_Silent_p.L37L|HMBS_uc009zap.1_Silent_p.L75L|HMBS_uc001pva.1_Silent_p.L92L|HMBS_uc001pvb.1_Silent_p.L74L|HMBS_uc001pvd.1_Silent_p.L75L|HMBS_uc001pve.1_Silent_p.L75L|HMBS_uc001pvf.1_Silent_p.L75L NM_000190 NP_000181 P08397 HEM3_HUMAN hydroxymethylbilane synthase isoform 1 92 L -> P (in AIP). peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity 0 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) GAGTGGACCTGGTTGTTCACT 0.562 NA Porphyria_Acute_Intermittent 15 15 0 0 0.004007 0 0 GRIK4 2900 broad.mit.edu 37 11 120776196 120776196 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:120776196C>T uc001pxn.2 + 13 1757 c.1470C>T c.(1468-1470)ATC>ATT p.I490I GRIK4_uc009zav.1_Silent_p.I490I|GRIK4_uc009zaw.1_Silent_p.I490I|GRIK4_uc009zax.1_Silent_p.I490I NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 490 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GGGAGCTGATCGCTAGGGTAA 0.577 NA 27 83 0 0 0.004656 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123471196 123471196 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:123471196G>T uc001pyx.2 + 7 890 c.561G>T c.(559-561)GGG>GGT p.G187G GRAMD1B_uc001pyw.2_Silent_p.G194G|GRAMD1B_uc010rzw.1_Silent_p.G147G|GRAMD1B_uc010rzx.1_Silent_p.G147G|GRAMD1B_uc009zbe.1_Silent_p.G183G NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 187 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CTTCGTTTGGGGCCCGGGATA 0.418 NA 14 24 0.00074312 0.000863626 0.006122 1 0 OR8G2 26492 broad.mit.edu 37 11 124095992 124095992 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:124095992G>T uc010saf.1 + 1 595 c.595G>T c.(595-597)GGG>TGG p.G199W NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 199 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CCCTCTCTTGGGGCTCTCCTG 0.428 NA 5 249 0.000602214 0.000706611 0.000602 1 0 PTPN6 5777 broad.mit.edu 37 12 7064898 7064898 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:7064898C>T uc001qsb.2 + 7 1065 c.823C>T c.(823-825)CGC>TGC p.R275C PTPN6_uc001qsa.1_Missense_Mutation_p.R277C|PTPN6_uc010sfr.1_Missense_Mutation_p.R236C|PTPN6_uc009zfl.1_Missense_Mutation_p.R275C|PTPN6_uc010sfs.1_Missense_Mutation_p.R263C NM_002831 NP_002822 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 275 Tyrosine-protein phosphatase. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1) 1 GGGCAAGAACCGCTACAAGAA 0.597 NA 7 20 0 0 0.001984 0 0 ATF7IP 55729 broad.mit.edu 37 12 14577856 14577856 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:14577856A>T uc001rbw.2 + 2 1165 c.1007A>T c.(1006-1008)GAT>GTT p.D336V ATF7IP_uc010shs.1_Missense_Mutation_p.D336V|ATF7IP_uc001rbu.2_Missense_Mutation_p.D336V|ATF7IP_uc001rbv.1_Missense_Mutation_p.D336V|ATF7IP_uc001rbx.2_Missense_Mutation_p.D336V|ATF7IP_uc010sht.1_Missense_Mutation_p.D336V|ATF7IP_uc001rby.3_Missense_Mutation_p.D336V|ATF7IP_uc001rbz.1_Missense_Mutation_p.D336V|ATF7IP_uc001rca.2_Missense_Mutation_p.D336V|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 336 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GACTCATTGGATGAGAAAAAT 0.299 NA 26 42 0 0 0.003954 0 0 OVCH1 341350 broad.mit.edu 37 12 29648274 29648274 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:29648274C>A uc001rix.1 - 4 398 c.398G>T c.(397-399)CGT>CTT p.R133L NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 133 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CATATATTCACGGCTGTTGTA 0.373 NA 10 165 3.07112e-06 4.13441e-06 0.000978 1 0 AMN1 196394 broad.mit.edu 37 12 31862270 31862270 + Missense_Mutation SNP A A C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:31862270A>C uc001rkq.3 - 2 294 c.128T>G c.(127-129)ATA>AGA p.I43R AMN1_uc001rko.3_Missense_Mutation_p.I25R|AMN1_uc010skc.1_Missense_Mutation_p.I25R|AMN1_uc001rkp.3_Missense_Mutation_p.I25R|AMN1_uc009zjs.2_Intron|AMN1_uc009zjt.1_Intron NM_001113402 NP_001106873 Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog 43 0 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) CATACTCATTATTTTAATCAG 0.328 NA 6 56 0 0 0.001984 0 0 C12orf35 55196 broad.mit.edu 37 12 32135455 32135455 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:32135455G>A uc001rks.2 + 4 1980 c.1566G>A c.(1564-1566)GTG>GTA p.V522V NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 522 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) CTCATGATGTGAAAGTTCTCA 0.393 NA 3 54 0 0 0.004672 0 0 ADCY6 112 broad.mit.edu 37 12 49172026 49172026 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:49172026C>A uc001rsh.3 - 2 1539 c.879G>T c.(877-879)GTG>GTT p.V293V ADCY6_uc001rsj.3_Silent_p.V293V|ADCY6_uc001rsi.3_Silent_p.V293V NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 293 Helical; (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 ATP binding|metal ion binding 0 GGAACAGCAGCACATTGGCAC 0.572 NA 6 42 0.00198382 0.00223792 0.001984 1 0 LARP4 113251 broad.mit.edu 37 12 50829370 50829370 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:50829370G>T uc001rwp.1 + 5 642 c.498G>T c.(496-498)TTG>TTT p.L166F LARP4_uc001rwo.1_Missense_Mutation_p.L172F|LARP4_uc001rwq.1_Missense_Mutation_p.L166F|LARP4_uc001rwr.1_Missense_Mutation_p.L166F|LARP4_uc001rws.1_Missense_Mutation_p.L165F|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.L166F|LARP4_uc001rwn.2_Missense_Mutation_p.L96F NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 166 HTH La-type RNA-binding. nucleotide binding|RNA binding ovary(1) 1 TAAAAAAGTTGACTACAGACC 0.299 NA 13 64 6.81908e-15 1.16739e-14 0.00245 1 0 KRT82 3888 broad.mit.edu 37 12 52799698 52799698 + Nonsense_Mutation SNP C C A rs145722634 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:52799698C>A uc001sai.1 - 1 479 c.364G>T c.(364-366)GAG>TAG p.E122* NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 122 Coil 1A.|Rod. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) TTGATCTGCTCCTTCTCATCC 0.567 NA 18 208 3.41278e-10 5.2743e-10 0.00499 1 0 KRT6A 3853 broad.mit.edu 37 12 52883764 52883764 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:52883764T>C uc001sam.2 - 6 1375 c.1166A>G c.(1165-1167)CAG>CGG p.Q389R NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 389 Rod.|Coil 2. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) TCTCAGCCTCTGGATCATGCG 0.557 NA 10 27 0 0 0.004007 0 0 KRT73 319101 broad.mit.edu 37 12 53002076 53002077 + Missense_Mutation DNP CC CC AA TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:53002076_53002077CC>AA uc001sas.2 - 9 1561_1562 c.1526_1527GG>TT c.(1525-1527)GGG>GTT p.G509V NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 509 Tail. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCTGGCTTCCCCACGGGGGCT 0.579 NA 7 73 0 0 0.004672 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398575 57398575 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:57398575C>T uc001sml.1 - 2 213 c.127G>A c.(127-129)GCC>ACC p.A43T RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 43 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GCCTTGTGGGCCGGGAAGGAG 0.582 NA 36 94 0 0 0.005524 0 0 LRIG3 121227 broad.mit.edu 37 12 59274658 59274658 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:59274658C>T uc001sqr.2 - 13 1752 c.1506G>A c.(1504-1506)ACG>ACA p.T502T LRIG3_uc009zqh.2_Silent_p.T442T|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 502 Ig-like C2-type 1. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) CTGGCTGAACCGTGATCTGGG 0.423 NA 17 142 0 0 0.008871 0 0 SRGAP1 57522 broad.mit.edu 37 12 64502733 64502733 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:64502733G>A uc010ssp.1 + 16 1891 c.1835G>A c.(1834-1836)AGG>AAG p.R612K SRGAP1_uc001srv.2_Missense_Mutation_p.R549K NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 612 Rho-GAP. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTCTATGAGAGGGCGCTTCAC 0.453 NA 4 87 0 0 0.009096 0 0 RAB3IP 117177 broad.mit.edu 37 12 70209151 70209151 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:70209151G>T uc001svp.2 + 11 1803 c.1356G>T c.(1354-1356)CAG>CAT p.Q452H RAB3IP_uc001svm.2_Missense_Mutation_p.Q436H|RAB3IP_uc001svn.2_3'UTR|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_3'UTR|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA|RAB3IP_uc001svt.2_Missense_Mutation_p.Q230H NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 452 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TAGTTGATCAGATGTTTTGGG 0.358 NA 25 68 2.44723e-14 4.15064e-14 0.004656 1 0 PTPRB 5787 broad.mit.edu 37 12 70954551 70954551 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:70954551C>A uc001swb.3 - 15 3708 c.3678G>T c.(3676-3678)GAG>GAT p.E1226D PTPRB_uc010sto.1_Missense_Mutation_p.E1136D|PTPRB_uc010stp.1_Missense_Mutation_p.E1136D|PTPRB_uc001swc.3_Missense_Mutation_p.E1444D|PTPRB_uc001swa.3_Missense_Mutation_p.E1356D|PTPRB_uc001swd.3_Missense_Mutation_p.E1443D|PTPRB_uc009zrr.1_Missense_Mutation_p.E1323D NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1226 Fibronectin type-III 14.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAAACCGCCACTCCGTCAGGT 0.493 NA 17 34 1.02788e-11 1.67346e-11 0.00499 1 0 PTPRB 5787 broad.mit.edu 37 12 70960398 70960398 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:70960398C>A uc001swb.3 - 13 3097 c.3067G>T c.(3067-3069)GCA>TCA p.A1023S PTPRB_uc010sto.1_Intron|PTPRB_uc010stp.1_Missense_Mutation_p.A933S|PTPRB_uc001swc.3_Missense_Mutation_p.A1241S|PTPRB_uc001swa.3_Missense_Mutation_p.A1153S|PTPRB_uc001swd.3_Missense_Mutation_p.A1240S|PTPRB_uc009zrr.1_Missense_Mutation_p.A1120S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1023 Fibronectin type-III 12.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TATCTTTCTGCCACACCAGCA 0.423 NA 22 66 5.35356e-11 8.47067e-11 0.00278 1 0 PTPRB 5787 broad.mit.edu 37 12 71029809 71029809 + Silent SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:71029809A>G uc001swc.3 - 2 137 c.93T>C c.(91-93)TGT>TGC p.C31C PTPRB_uc001swa.3_Silent_p.C31C|PTPRB_uc001swd.3_Silent_p.C30C|PTPRB_uc009zrr.1_Silent_p.C31C|PTPRB_uc001swe.2_Silent_p.C31C NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTTTGAAAAGACACTGTTGTT 0.423 NA 4 20 0 0 0.009096 0 0 SLC6A15 55117 broad.mit.edu 37 12 85285811 85285811 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:85285811G>T uc001szv.2 - 2 582 c.89C>A c.(88-90)GCT>GAT p.A30D SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.A30D NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 30 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.A30T(1) pancreas(2)|ovary(1) 3 AGCATCATCAGCTGCGTCTTC 0.398 NA 22 190 5.26018e-13 8.69953e-13 0.001882 1 0 LUM 4060 broad.mit.edu 37 12 91497992 91497992 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:91497992G>T uc001tbm.2 - 3 1356 c.967C>A c.(967-969)CCG>ACG p.P323T LUM_uc001tbn.2_RNA NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 323 LRR 11. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 TACATATCCGGTGGAAGACTG 0.403 NA 15 53 0.00400662 0.00447152 0.004007 1 0 SCYL2 55681 broad.mit.edu 37 12 100732925 100732925 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:100732925A>T uc001thn.2 + 18 2815 c.2765A>T c.(2764-2766)AAT>ATT p.N922I NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 922 Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 TCAGCTAGCAATGATTTAAAA 0.368 NA 15 100 0 0 0.003163 0 0 TXNRD1 7296 broad.mit.edu 37 12 104705135 104705135 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:104705135A>G uc010swk.1 + 5 504 c.482A>G c.(481-483)TAT>TGT p.Y161C TXNRD1_uc010swl.1_Missense_Mutation_p.Y11C|TXNRD1_uc010swm.1_Missense_Mutation_p.Y63C|TXNRD1_uc010swn.1_Missense_Mutation_p.Y11C|TXNRD1_uc010swo.1_Missense_Mutation_p.Y11C|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Missense_Mutation_p.Y61C|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.Y77C|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_RNA|TXNRD1_uc001tkv.1_RNA NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 161 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 CCCAAGTCCTATGACTATGAC 0.438 Ovarian(139;555 1836 9186 9946 10884) NA 5 11 0 0 0.000602 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105428127 105428127 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:105428127C>G uc001tlc.2 - 19 2322 c.2195G>C c.(2194-2196)GGG>GCG p.G732A ALDH1L2_uc009zuo.2_Missense_Mutation_p.G187A|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 732 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 GAACAACCGCCCAGCAGCAAT 0.418 NA 5 20 0 0 0.001984 0 0 CCDC63 160762 broad.mit.edu 37 12 111318979 111318979 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:111318979G>A uc001trv.1 + 7 927 c.732G>A c.(730-732)CAG>CAA p.Q244Q CCDC63_uc009zvt.1_Missense_Mutation_p.V99I|CCDC63_uc010sye.1_Silent_p.Q204Q|CCDC63_uc001trw.1_Silent_p.Q159Q NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 244 Potential. skin(6)|ovary(1)|pancreas(1) 8 ACACCTCTCAGTACAACCTGG 0.557 NA 10 25 0 0 0.006214 0 0 TBX5 6910 broad.mit.edu 37 12 114803991 114803991 + Missense_Mutation SNP A A C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:114803991A>C uc001tvo.2 - 8 1456 c.961T>G c.(961-963)TAC>GAC p.Y321D TBX5_uc001tvp.2_Missense_Mutation_p.Y321D|TBX5_uc001tvq.2_Missense_Mutation_p.Y271D|TBX5_uc010syv.1_Missense_Mutation_p.Y321D NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 321 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GTACAATGGTAAATTTGGCTA 0.542 NSCLC(152;1358 1980 4050 23898 40356) NA 13 34 0 0 0.00245 0 0 TAOK3 51347 broad.mit.edu 37 12 118671547 118671547 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:118671547G>C uc001twx.2 - 9 870 c.575C>G c.(574-576)GCT>GGT p.A192G TAOK3_uc001tww.2_Missense_Mutation_p.A22G|TAOK3_uc001twy.3_Missense_Mutation_p.A192G NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 192 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCATCCATAGCTAAGATCAC 0.353 NA 12 109 0 0 0.001855 0 0 NCOR2 9612 broad.mit.edu 37 12 124817745 124817745 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:124817745G>A uc010tay.1 - 44 6872 c.6716C>T c.(6715-6717)ACG>ATG p.T2239M NCOR2_uc010taz.1_Missense_Mutation_p.T2223M|NCOR2_uc010tax.1_Missense_Mutation_p.T350M NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 2240 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCCTGGCTCCGTCATGCCCTC 0.642 NA 8 24 0 0 0.00308 0 0 RIMBP2 23504 broad.mit.edu 37 12 130963548 130963548 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:130963548G>T uc001uil.2 - 3 175 c.11C>A c.(10-12)GCG>GAG p.A4E RIMBP2_uc001uim.2_5'UTR NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 4 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCGTTCAGCCGCCTCTCGCAT 0.617 NA 9 25 3.86212e-05 4.90993e-05 0.008291 1 0 RNF17 56163 broad.mit.edu 37 13 25341431 25341431 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:25341431G>A uc001upr.2 + 2 193 c.152G>A c.(151-153)TGT>TAT p.C51Y RNF17_uc010tdd.1_Translation_Start_Site|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.C51Y|RNF17_uc001ups.2_Translation_Start_Site|RNF17_uc001upq.1_Missense_Mutation_p.C51Y NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 51 RING-type. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GAACTTCAATGTGGACATGCT 0.259 NA 8 91 0 0 0.00308 0 0 FLT3 2322 broad.mit.edu 37 13 28626770 28626770 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:28626770T>C uc001urw.2 - 5 608 c.526A>G c.(526-528)ATG>GTG p.M176V FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.M176V NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 176 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGGTTTTCCATTTTTCTAAAG 0.408 NA Mis|O AML|ALL 12 58 0 0 0.00245 0 0 MTUS2 23281 broad.mit.edu 37 13 29599371 29599371 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:29599371G>A uc001usl.3 + 1 624 c.566G>A c.(565-567)AGA>AAA p.R189K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 179 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TCTTTGGAAAGAGCAAGCAGC 0.547 NA 6 55 0 0 0.001168 0 0 STARD13 90627 broad.mit.edu 37 13 33739517 33739517 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:33739517C>T uc001uuw.2 - 3 406 c.280G>A c.(280-282)GAT>AAT p.D94N STARD13_uc001uuu.2_Missense_Mutation_p.D86N|STARD13_uc001uuv.2_5'UTR|STARD13_uc001uux.2_Missense_Mutation_p.D59N|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.D79N NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 94 SAM. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AAATCATGATCATTCTTGACA 0.368 NA 8 56 0 0 0.004482 0 0 FAM48A 55578 broad.mit.edu 37 13 37593535 37593535 + Splice_Site SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:37593535C>A uc001uwg.2 - 22 2065 c.1817_splice c.e22-1 p.G606_splice FAM48A_uc010abt.2_Splice_Site_p.G607_splice|FAM48A_uc001uwh.2_Splice_Site_p.G607_splice|FAM48A_uc001uwi.2_Splice_Site_p.G606_splice|FAM48A_uc001uwj.2_Splice_Site_p.G607_splice|FAM48A_uc001uwk.2_Splice_Site_p.G685_splice|FAM48A_uc001uwd.2_Splice_Site_p.G93_splice|FAM48A_uc001uwe.2_Splice_Site_p.G90_splice|FAM48A_uc001uwf.2_Splice_Site_p.G184_splice NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) AATGGAACACCTGTTAAATAA 0.254 NA 15 89 0.00400662 0.00447152 0.004007 1 0 NHLRC3 387921 broad.mit.edu 37 13 39616394 39616394 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:39616394G>A uc001uxc.2 + 4 860 c.538G>A c.(538-540)GTG>ATG p.V180M NHLRC3_uc001uxb.1_Missense_Mutation_p.V180M|NHLRC3_uc001uxd.2_Intron|NHLRC3_uc001uxe.2_Translation_Start_Site NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 180 NHL 2. extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) TATTTACATTGTGGATGGAGA 0.328 NA 14 83 0 0 0.004007 0 0 FNDC3A 22862 broad.mit.edu 37 13 49771970 49771970 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:49771970A>T uc001vcm.2 + 21 2755 c.2450A>T c.(2449-2451)AAA>ATA p.K817I FNDC3A_uc001vcn.2_Missense_Mutation_p.K817I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.K761I NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 817 Fibronectin type-III 6. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TATGAAATAAAAGGACTTTCA 0.408 NA 17 47 0 0 0.00499 0 0 TDRD3 81550 broad.mit.edu 37 13 61059946 61059946 + Missense_Mutation SNP A A G rs17855091 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:61059946A>G uc001via.2 + 7 1090 c.302A>G c.(301-303)CAT>CGT p.H101R TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.H101R|TDRD3_uc010aeg.2_Missense_Mutation_p.H194R|TDRD3_uc001vib.3_Missense_Mutation_p.H100R NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 101 H -> R (in Ref. 6; AAH60876). chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TGTGTATCTCATGTCCAAGTG 0.323 Colon(36;164 906 35820 50723) NA 8 23 0 0 0.006214 0 0 KLHL1 57626 broad.mit.edu 37 13 70370930 70370930 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:70370930T>A uc001vip.2 - 7 2373 c.1579A>T c.(1579-1581)AAT>TAT p.N527Y KLHL1_uc010thm.1_Missense_Mutation_p.N466Y NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 527 Kelch 2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GTTTTGGGATTGTAACATTCA 0.388 NA 10 66 0 0 0.006214 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327942 88327943 + Missense_Mutation DNP AG AG TA TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:88327942_88327943AG>TA uc001vln.2 + 2 518_519 c.299_300AG>TA c.(298-300)GAG>GTA p.E100V SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 100 LRR 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TATCCCAATGAGTTTGTCAATT 0.485 NA 29 159 0 0 0.004672 0 0 MCF2L 23263 broad.mit.edu 37 13 113718714 113718714 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr13:113718714C>T uc001vsu.2 + 6 779 c.757C>T c.(757-759)CGG>TGG p.R253W MCF2L_uc001vsq.2_Missense_Mutation_p.R253W|MCF2L_uc010tjr.1_Missense_Mutation_p.R196W|MCF2L_uc001vsr.2_Missense_Mutation_p.R200W|MCF2L_uc001vss.3_Missense_Mutation_p.R194W|MCF2L_uc010tjs.1_Missense_Mutation_p.R194W|MCF2L_uc001vst.1_Missense_Mutation_p.R158W NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 226 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|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CTGCCACTCCCGGTGGCTGTG 0.607 NA 4 32 0 0 0.009096 0 0 POTEG 404785 broad.mit.edu 37 14 19553587 19553587 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:19553587C>A uc001vuz.1 + 1 223 c.171C>A c.(169-171)CTC>CTA p.L57L POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 57 ovary(1) 1 TGAAGACACTCAGGAGCAAGA 0.617 NA 16 343 3.01185e-09 4.49319e-09 0.003954 1 0 P704P 641455 broad.mit.edu 37 14 20020050 20020050 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:20020050G>T uc001vwc.3 - 1 223 c.171C>A c.(169-171)CTC>CTA p.L57L P704P_uc001vwb.3_RNA NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN prostate-specific P704P 57 0 TCTTGCTCCTGAGTGTCTTCA 0.617 NA 14 178 0.000308642 0.000369864 0.003163 1 0 OR4N2 390429 broad.mit.edu 37 14 20295661 20295661 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:20295661C>A uc010tkv.1 + 1 54 c.54C>A c.(52-54)ACC>ACA p.T18T NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGGTCTGACCCAGTCTCAAG 0.383 NA 16 178 2.48551e-13 4.16721e-13 0.00499 1 0 OR4K14 122740 broad.mit.edu 37 14 20482705 20482705 + Silent SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:20482705C>G uc010tky.1 - 1 648 c.648G>C c.(646-648)CTG>CTC p.L216L NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 216 Helical; Name=5; (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) TGTAGGAGATCAGGAGGAGCA 0.502 NA 3 11 0 0 0.004672 0 0 OR4K17 390436 broad.mit.edu 37 14 20586056 20586056 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:20586056T>A uc001vwo.1 + 1 491 c.491T>A c.(490-492)ATG>AAG p.M164K NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTACACTACATGACCATCATG 0.448 NA 19 81 0 0 0.007413 0 0 OR4N5 390437 broad.mit.edu 37 14 20612048 20612048 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:20612048G>T uc010tla.1 + 1 154 c.154G>T c.(154-156)GAC>TAC p.D52Y NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CATAAAGTCAGACCCTGGGCT 0.463 NA 44 256 2.64894e-19 4.67724e-19 0.00361 1 0 OR11H4 390442 broad.mit.edu 37 14 20711524 20711524 + Missense_Mutation SNP G G T rs142588807 by1000genomes TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:20711524G>T uc010tld.1 + 1 574 c.574G>T c.(574-576)GAC>TAC p.D192Y NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) GTGTGACATGGACCCATTGAT 0.433 NA 23 132 2.32416e-17 4.0548e-17 0.002299 1 0 PARP2 10038 broad.mit.edu 37 14 20820432 20820432 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:20820432G>A uc001vxc.2 + 7 593 c.565G>A c.(565-567)GAA>AAA p.E189K PARP2_uc001vxd.2_Missense_Mutation_p.E176K|PARP2_uc001vxb.1_Missense_Mutation_p.E189K|PARP2_uc010tle.1_5'Flank NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase family, member 2 189 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity ovary(1)|pancreas(1) 2 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) AAACAATTGGGAAGATCGAGA 0.368 NA Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 9 58 0 0 0.004482 0 0 CBLN3 643866 broad.mit.edu 37 14 24897532 24897532 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:24897532C>T uc001wpg.3 - 2 851 c.380G>A c.(379-381)CGG>CAG p.R127Q KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 127 Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q. cell junction|extracellular region|synapse central_nervous_system(1) 1 GBM - Glioblastoma multiforme(265;0.00159) CACATGGAACCGGAAGCTGTA 0.647 NA 31 108 0 0 0.008361 0 0 NOVA1 4857 broad.mit.edu 37 14 26917372 26917372 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:26917372T>A uc001wpy.2 - 5 1635 c.1317A>T c.(1315-1317)AAA>AAT p.K439N NOVA1_uc001wpz.2_Missense_Mutation_p.K415N|NOVA1_uc001wqa.2_Missense_Mutation_p.K317N NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 442 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) TTTTCCCTCCTTTGCCAAGTA 0.443 NA 3 38 0 0 0.009096 0 0 FOXG1 2290 broad.mit.edu 37 14 29237307 29237307 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:29237307G>T uc001wqe.2 + 1 1021 c.822G>T c.(820-822)CGG>CGT p.R274R NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 274 Fork-head. Missing (in Ref. 1; CAA52240 and 2; CAA55038). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GCAAGCTGCGGCGCCGCTCCA 0.701 NA 4 19 3.59834e-05 4.59055e-05 0.001168 1 0 FOXG1 2290 broad.mit.edu 37 14 29237327 29237327 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:29237327G>C uc001wqe.2 + 1 1041 c.842G>C c.(841-843)CGG>CCG p.R281P NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 281 R -> P (in Ref. 1; CAA52239/CAA52240 and 2; CAA55038). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) ACCACCTCGCGGGCCAAGCTG 0.701 NA 5 22 0 0 0.000602 0 0 FRMD6 122786 broad.mit.edu 37 14 52188791 52188791 + Silent SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:52188791A>T uc001wzd.2 + 12 1770 c.1485A>T c.(1483-1485)GGA>GGT p.G495G FRMD6_uc001wzb.2_Silent_p.G487G|FRMD6_uc001wzc.2_Silent_p.G487G|FRMD6_uc001wze.2_Silent_p.G418G|FRMD6_uc001wzf.2_Silent_p.G188G|FRMD6_uc001wzg.2_Silent_p.G137G NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 495 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) AGCTGAATGGACACTCTGGTG 0.507 NA 10 35 0 0 0.000978 0 0 NID2 22795 broad.mit.edu 37 14 52505683 52505683 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:52505683G>C uc001wzo.2 - 9 2273 c.2039C>G c.(2038-2040)ACA>AGA p.T680R NID2_uc010tqs.1_Missense_Mutation_p.T680R|NID2_uc010tqt.1_Missense_Mutation_p.T680R|NID2_uc001wzp.2_Missense_Mutation_p.T680R NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 680 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TCTGGAACTTGTAGAGGTCAC 0.418 NA 7 38 0 0 0.001984 0 0 HIF1A 3091 broad.mit.edu 37 14 62199167 62199167 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:62199167G>T uc001xfq.2 + 7 1209 c.805G>T c.(805-807)GAA>TAA p.E269* HIF1A_uc001xfr.2_Nonsense_Mutation_p.E269*|HIF1A_uc001xfs.2_Nonsense_Mutation_p.E270* NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit 269 PAS 2.|Interaction with TSGA10 (By similarity). cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) TGAGCCAGAAGAACTTTTAGG 0.338 NA 16 135 1.33834e-09 2.02552e-09 0.007413 1 0 TDP1 55775 broad.mit.edu 37 14 90429941 90429942 + Missense_Mutation DNP GA GA TT TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:90429941_90429942GA>TT uc001xxy.2 + 3 782_783 c.483_484GA>TT c.(481-486)GGGAAC>GGTTAC p.N162Y TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.N162Y|TDP1_uc010atn.2_Missense_Mutation_p.N162Y|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.N162Y|TDP1_uc001xyc.1_Missense_Mutation_p.N162Y NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 162 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TGGATAAAGGGAACCCCTTCCA 0.52 NA Repair_of_DNA-protein_crosslinks 9 43 0 0 0.004672 0 0 TRIP11 9321 broad.mit.edu 37 14 92491728 92491728 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:92491728C>T uc001xzy.2 - 3 1026 c.238G>A c.(238-240)GAG>AAG p.E80K NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 80 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TCATGTTTCTCTTCTAGATCA 0.303 Ovarian(84;609 1888 9852 42686) NA T PDGFRB AML 5 41 0 0 0.000602 0 0 KIAA1409 57578 broad.mit.edu 37 14 94088672 94088672 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:94088672C>A uc001ybv.1 + 28 4711 c.4628C>A c.(4627-4629)TCT>TAT p.S1543Y KIAA1409_uc001ybs.1_Missense_Mutation_p.S1521Y NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1698 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GACTTTTCTTCTAAGGACTCA 0.537 NA 15 63 7.93312e-07 1.08598e-06 0.00245 1 0 DICER1 23405 broad.mit.edu 37 14 95562968 95562968 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:95562968C>A uc001ydw.2 - 24 4471 c.4289G>T c.(4288-4290)AGG>ATG p.R1430M DICER1_uc010avh.1_Missense_Mutation_p.R328M|DICER1_uc001ydv.2_Missense_Mutation_p.R1420M|DICER1_uc001ydx.2_Missense_Mutation_p.R1430M|DICER1_uc001ydy.1_Missense_Mutation_p.R282M NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1430 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTTCGGAGCCCTCCACATCAG 0.393 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 4 28 0.00909568 0.00987956 0.009096 1 0 TDRD9 122402 broad.mit.edu 37 14 104508469 104508469 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:104508469C>A uc001yom.3 + 34 3949 c.3919C>A c.(3919-3921)CTT>ATT p.L1307I TDRD9_uc001yon.3_Missense_Mutation_p.L854I NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 1307 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) ATGCAAGTGTCTTGGGCCAGA 0.458 NA 13 42 0.00185496 0.00211871 0.001855 1 0 AHNAK2 113146 broad.mit.edu 37 14 105411259 105411259 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:105411259G>T uc010axc.1 - 7 10649 c.10529C>A c.(10528-10530)TCC>TAC p.S3510Y AHNAK2_uc001ypx.2_Missense_Mutation_p.S3410Y NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3510 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGCATGGAGGAGAGGCTCAC 0.637 NA 12 116 3.27435e-08 4.68405e-08 0.00245 1 0 C15orf2 23742 broad.mit.edu 37 15 24922632 24922632 + Missense_Mutation SNP A A C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:24922632A>C uc001ywo.2 + 1 2092 c.1618A>C c.(1618-1620)ACC>CCC p.T540P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 540 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) TTCCACCGGGACCTCAGTTAT 0.527 NA 28 140 0 0 0.002096 0 0 CHRNA7 1139 broad.mit.edu 37 15 32393544 32393544 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:32393544G>T uc001zft.2 + 3 306 c.234G>T c.(232-234)CTG>CTT p.L78L CHRNA7_uc010bab.1_Silent_p.L78L|CHRNA7_uc010bac.1_Silent_p.L78L|CHRNA7_uc010bad.1_RNA|CHRNA7_uc010bae.1_RNA|CHRNA7_uc010baf.2_5'UTR|CHRNA7_uc010bag.1_RNA|CHRNA7_uc010bah.1_RNA NM_000746 NP_000737 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 78 Extracellular (Potential). activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding ovary(1) 1 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) ACATTTGGCTGCAAATGGTAA 0.378 Esophageal Squamous(193;529 2900 40232 43193) NA 20 105 1.2644e-06 1.7244e-06 0.010504 1 0 ZNF770 54989 broad.mit.edu 37 15 35275448 35275448 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:35275448G>A uc001ziw.2 - 3 499 c.188C>T c.(187-189)ACC>ATC p.T63I NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 63 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TTGTCTAAAGGTTTTATGACA 0.338 NA 8 74 0 0 0.006214 0 0 TYRO3 7301 broad.mit.edu 37 15 41865602 41865602 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:41865602G>T uc001zof.1 + 17 2306 c.2082G>T c.(2080-2082)CTG>CTT p.L694L NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 694 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CCTCCAAACTGCCTGTCAAGT 0.592 NA 27 168 2.27525e-19 4.03692e-19 0.003954 1 0 STRC 161497 broad.mit.edu 37 15 43901484 43901484 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:43901484T>A uc001zsf.2 - 16 3625 c.3547A>T c.(3547-3549)AGG>TGG p.R1183W STRC_uc010bdl.2_Missense_Mutation_p.R410W|STRC_uc001zse.2_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1183 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGCAGATTCCTGAGGGTAAGG 0.348 NA 14 80 0 0 0.003163 0 0 MFAP1 4236 broad.mit.edu 37 15 44097385 44097385 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:44097385C>T uc001zth.1 - 9 1411 c.1227G>A c.(1225-1227)GAG>GAA p.E409E NM_005926 NP_005917 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 409 microfibril skin(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TCTGGGCACTCTCTTGGCCCC 0.443 NA 8 71 0 0 0.00308 0 0 NOX5 79400 broad.mit.edu 37 15 69328113 69328113 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:69328113C>G uc002ars.1 + 7 1045 c.1025C>G c.(1024-1026)GCG>GGG p.A342G NOX5_uc002arp.1_Missense_Mutation_p.A324G|NOX5_uc002arq.1_Missense_Mutation_p.A296G|NOX5_uc010bid.1_Missense_Mutation_p.A307G|NOX5_uc002arr.1_Missense_Mutation_p.A314G|NOX5_uc010bie.1_Missense_Mutation_p.A142G|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 342 Extracellular (Potential).|Ferric oxidoreductase. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 CAGGCTCAGGCGGAGGCCAGC 0.612 NA 4 50 0 0 0.00308 0 0 NEO1 4756 broad.mit.edu 37 15 73552647 73552647 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:73552647G>T uc002avm.3 + 15 2381 c.2239G>T c.(2239-2241)GTA>TTA p.V747L NEO1_uc010ukx.1_Missense_Mutation_p.V747L|NEO1_uc010uky.1_Missense_Mutation_p.V747L|NEO1_uc010ukz.1_Missense_Mutation_p.V171L|NEO1_uc002avn.3_Missense_Mutation_p.V412L NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 747 Extracellular (Potential).|Fibronectin type-III 4. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CTCTCTTCACGTACGCCCGCT 0.478 NA 10 50 2.80697e-09 4.19611e-09 0.000978 1 0 HCN4 10021 broad.mit.edu 37 15 73617434 73617434 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:73617434C>G uc002avp.2 - 6 2834 c.1840G>C c.(1840-1842)GAG>CAG p.E614Q NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 614 Cytoplasmic (Potential).|cAMP. blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) TGGAAGACCTCGAAACGCAGC 0.552 NA 7 68 0 0 0.00308 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74373006 74373006 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:74373006T>G uc002axa.1 - 2 196 c.155A>C c.(154-156)GAC>GCC p.D52A NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 52 Potential. 0 AGGGCTACTGTCAGTTTTTTT 0.507 NA 4 63 0 0 0.001984 0 0 SEMA7A 8482 broad.mit.edu 37 15 74709697 74709697 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:74709697T>G uc002axv.2 - 6 680 c.640A>C c.(640-642)ACC>CCC p.T214P SEMA7A_uc010ulk.1_Missense_Mutation_p.T49P|SEMA7A_uc010ull.1_Missense_Mutation_p.T200P NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 214 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 GTATCACTGGTGTACAGCTCA 0.587 NA 17 77 0 0 0.007413 0 0 SEMA7A 8482 broad.mit.edu 37 15 74709982 74709982 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:74709982C>A uc002axv.2 - 5 540 c.500G>T c.(499-501)AGA>ATA p.R167I SEMA7A_uc010ulk.1_Missense_Mutation_p.R2I|SEMA7A_uc010ull.1_Missense_Mutation_p.R153I NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 167 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 GGCGTAGCCTCTCATCTCGCC 0.617 NA 7 26 1.12685e-05 1.47621e-05 0.004482 1 0 GOLGA6D 653643 broad.mit.edu 37 15 75586718 75586718 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:75586718G>A uc010uma.1 + 18 2019 c.1984G>A c.(1984-1986)GTG>ATG p.V662M uc010umd.1_5'Flank NM_001145224 NP_001138696 P0CG33 GOG6D_HUMAN golgi autoantigen, golgin subfamily a, 6D 662 0 GGACAACAACGTGGAGCCTGC 0.612 NA 4 39 0 0 0.009096 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76168549 76168549 + Nonsense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:76168549C>T uc002bbg.2 + 6 996 c.610C>T c.(610-612)CAA>TAA p.Q204* UBE2Q2_uc002bbh.2_Nonsense_Mutation_p.Q169*|UBE2Q2_uc010umn.1_Nonsense_Mutation_p.Q188*|UBE2Q2_uc002bbi.2_Nonsense_Mutation_p.Q85* NM_173469 NP_775740 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q 2 isoform 1 204 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity ovary(2) 2 TGGGTCAGTGCAAGCTTCAGA 0.408 NA 55 230 0 0 0.00361 0 0 SV2B 9899 broad.mit.edu 37 15 91835638 91835638 + Silent SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr15:91835638T>C uc002bqv.2 + 12 2299 c.1908T>C c.(1906-1908)TTT>TTC p.F636F SV2B_uc010uqv.1_Silent_p.F485F|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 636 Helical; (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TATGCAAATTTGGCGCCATCC 0.468 NA 13 94 0 0 0.001855 0 0 WDR24 84219 broad.mit.edu 37 16 739444 739444 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:739444C>T uc002ciz.1 - 1 957 c.197G>A c.(196-198)CGT>CAT p.R66H NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 128 ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) GCGCCCCACACGCAGGTTCAG 0.597 NA 5 19 0 0 0.000602 0 0 TMC5 79838 broad.mit.edu 37 16 19475097 19475097 + Splice_Site SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:19475097G>T uc002dgc.3 + 8 1986 c.1237_splice c.e8-1 p.A413_splice TMC5_uc010vaq.1_Splice_Site_p.A413_splice|TMC5_uc002dgb.3_Splice_Site_p.A413_splice|TMC5_uc010var.1_Splice_Site_p.A413_splice|TMC5_uc002dgd.1_Splice_Site_p.A167_splice|TMC5_uc002dge.3_Splice_Site_p.A167_splice|TMC5_uc002dgf.3_Splice_Site_p.A96_splice|TMC5_uc002dgg.3_Splice_Site_p.A54_splice NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a integral to membrane skin(1) 1 CCTGATTCCAGGCTTATCGGA 0.413 NA 10 95 3.07112e-06 4.13441e-06 0.000978 1 0 PDILT 204474 broad.mit.edu 37 16 20380924 20380924 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:20380924C>A uc002dhc.1 - 8 1229 c.1006G>T c.(1006-1008)GTC>TTC p.V336F NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 336 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 AGGATTTGGACGGATGGGATA 0.468 NA 19 140 2.4624e-09 3.69612e-09 0.008871 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554527 20554527 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:20554527G>A uc002dhj.3 - 12 1549 c.1339C>T c.(1339-1341)CGG>TGG p.R447W ACSM2B_uc002dhk.3_Missense_Mutation_p.R447W|ACSM2B_uc010bwf.1_Missense_Mutation_p.R447W NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 447 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TTGATTCCCCGGTCTCCAAGG 0.498 NA 27 169 0 0 0.005443 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566759 20566759 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:20566759G>T uc002dhj.3 - 5 638 c.428C>A c.(427-429)ACT>AAT p.T143N ACSM2B_uc002dhk.3_Missense_Mutation_p.T143N|ACSM2B_uc010bwf.1_Missense_Mutation_p.T143N NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 143 T -> A (in Ref. 1; AAO17576). fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CAGTATGTCAGTGGATTTCAT 0.438 NA 7 79 6.40141e-05 8.01272e-05 0.000978 1 0 ERN2 10595 broad.mit.edu 37 16 23718184 23718184 + Splice_Site SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:23718184T>A uc002dma.3 - 6 693 c.524_splice c.e6-1 p.G175_splice ERN2_uc010bxp.2_Splice_Site_p.G175_splice|ERN2_uc010bxq.1_Splice_Site NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCTTCCGGCCTGTGGAGGTGG 0.587 NA 6 23 0 0 0.001168 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907150 29907150 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:29907150T>A uc002duq.3 - 4 783 c.543A>T c.(541-543)GAA>GAT p.E181D uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.E111D|SEZ6L2_uc002dur.3_Missense_Mutation_p.E111D|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Missense_Mutation_p.E181D|SEZ6L2_uc010ved.1_Missense_Mutation_p.E137D NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 181 CUB 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CCACATACCCTTCGCCCTCGG 0.562 NA 11 68 0 0 0.001368 0 0 TRIM72 493829 broad.mit.edu 37 16 31234185 31234185 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:31234185C>A uc002ebn.1 + 6 1007 c.778C>A c.(778-780)CGT>AGT p.R260S NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN tripartite motif-containing 72 260 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding 0 CCCACCCGCCCGTCTGGACAT 0.617 NA 8 92 4.36969e-10 6.7106e-10 0.001855 1 0 ZNF267 10308 broad.mit.edu 37 16 31927756 31927756 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:31927756C>T uc002ecs.3 + 4 2395 c.2186C>T c.(2185-2187)TCA>TTA p.S729L NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 729 C2H2-type 15. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 AACTCTAGGTCATACCTCATT 0.388 NA 13 89 0 0 0.003163 0 0 C16orf78 123970 broad.mit.edu 37 16 49433159 49433159 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:49433159G>T uc002efr.2 + 5 811 c.768G>T c.(766-768)GTG>GTT p.V256V NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 256 central_nervous_system(1) 1 CTAAAAAGGTGTTCACCGGAA 0.517 NA 8 37 5.18039e-06 6.91034e-06 0.00308 1 0 SLC6A2 6530 broad.mit.edu 37 16 55730144 55730144 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:55730144C>A uc002eif.2 + 9 1266 c.1155C>A c.(1153-1155)GGC>GGA p.G385G SLC6A2_uc010ccd.2_Silent_p.G385G|SLC6A2_uc002eig.2_Silent_p.G385G|SLC6A2_uc002eih.2_Silent_p.G385G|SLC6A2_uc002eii.2_Silent_p.G280G|SLC6A2_uc002eij.2_Silent_p.G99G NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 385 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CAGGAGCTGGCCTAGTGTTCA 0.512 NA 13 89 7.03913e-09 1.03118e-08 0.001368 1 0 CES1 1066 broad.mit.edu 37 16 55844547 55844547 + Silent SNP G G T rs145477234 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:55844547G>T uc002eim.2 - 11 1305 c.1197C>A c.(1195-1197)GCC>GCA p.A399A CES1_uc010ccf.2_Silent_p.A74A|CES1_uc002eil.2_Silent_p.A400A|CES1_uc002ein.2_Silent_p.A398A NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 399 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) ATTTCTCAGTGGCTTCTGGAA 0.478 NSCLC(162;1801 2756 42904 52896) NA 18 158 2.94398e-08 4.21971e-08 0.007413 1 0 CPNE2 221184 broad.mit.edu 37 16 57144694 57144694 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:57144694G>T uc002eks.1 + 2 269 c.40G>T c.(40-42)GCA>TCA p.A14S CPNE2_uc010cct.1_Missense_Mutation_p.A40S|CPNE2_uc010ccu.1_Missense_Mutation_p.A14S NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN copine II 14 C2 1. central_nervous_system(1)|skin(1) 2 all_neural(199;0.224) AGCAGCGGGGGCAGCCCCCAT 0.642 NA 8 64 5.18039e-06 6.91034e-06 0.00308 1 0 CDH11 1009 broad.mit.edu 37 16 65016031 65016031 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:65016031T>A uc002eoi.2 - 8 1607 c.1173A>T c.(1171-1173)GAA>GAT p.E391D CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E391D|CDH11_uc010vin.1_Missense_Mutation_p.E265D|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 391 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TTTCTTGGACTTCGTGGATGT 0.498 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 23 86 0 0 0.00333 0 0 CDH5 1003 broad.mit.edu 37 16 66429973 66429973 + Missense_Mutation SNP G G A rs139755397 byFrequency TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:66429973G>A uc002eom.3 + 8 1385 c.1229G>A c.(1228-1230)CGC>CAC p.R410H NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 410 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TACTCCATCCGCAGGACCAGT 0.498 NA 6 46 0 0 0.00308 0 0 TMED6 146456 broad.mit.edu 37 16 69377433 69377433 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:69377433G>A uc002exc.1 - 4 633 c.600C>T c.(598-600)TAC>TAT p.Y200Y NM_144676 NP_653277 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain 200 Lumenal (Potential). transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 ACCAGTTCACGTAGTTATAGT 0.418 NA 22 98 0 0 0.00333 0 0 CDH13 1012 broad.mit.edu 37 16 83711897 83711897 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr16:83711897G>T uc002fgx.2 + 10 1489 c.1369G>T c.(1369-1371)GGC>TGC p.G457C CDH13_uc010vns.1_Missense_Mutation_p.G504C|CDH13_uc010vnt.1_Missense_Mutation_p.G203C|CDH13_uc010vnu.1_Missense_Mutation_p.G418C NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 457 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CGTCTCCTACGGCCCCAGCTC 0.557 NA 8 32 1.06961e-07 1.49787e-07 0.00308 1 0 SPNS3 201305 broad.mit.edu 37 17 4349456 4349456 + Silent SNP C C T rs146044768 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:4349456C>T uc002fxt.2 + 4 560 c.516C>T c.(514-516)CGC>CGT p.R172R SPNS3_uc002fxu.2_Silent_p.R45R NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 172 lipid transport|transmembrane transport integral to membrane large_intestine(1) 1 AGCGCACCCGCGTGCTGGCTG 0.617 NA 8 51 0 0 0.008291 0 0 CLDN7 1366 broad.mit.edu 37 17 7164150 7164150 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:7164150G>A uc002gfm.3 - 2 811 c.378C>T c.(376-378)TTC>TTT p.F126F CLDN7_uc010cmc.2_Silent_p.F126F|CLDN7_uc002gfn.3_Silent_p.F126F NM_001307 NP_001298 O95471 CLD7_HUMAN claudin 7 126 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 CTGCCACGATGAAAATTATGC 0.577 NA 11 60 0 0 0.00245 0 0 SPEM1 374768 broad.mit.edu 37 17 7324723 7324723 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:7324723G>T uc002ggv.2 + 3 754 c.729G>T c.(727-729)CTG>CTT p.L243L FGF11_uc010vtw.1_Intron NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 243 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane 0 Prostate(122;0.173) CTCCCACCCTGGGCCCAGCAG 0.662 NA 11 27 6.40141e-05 8.01272e-05 0.000978 1 0 TP53 7157 broad.mit.edu 37 17 7578290 7578290 + Splice_Site SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:7578290C>A uc002gim.2 - 6 754 c.560_splice c.e6-1 p.G187_splice TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Intron NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(24)|p.0?(7)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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) GGGGCCAGACCTAAGAGCAAT 0.552 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) 8 23 1.12685e-05 1.47621e-05 0.004482 1 0 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:7578457C>A uc002gim.2 - 5 667 c.473G>T c.(472-474)CGC>CTC p.R158L TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627 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) 4 48 0.00909568 0.00987956 0.009096 1 0 DNAH2 146754 broad.mit.edu 37 17 7673701 7673701 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:7673701C>T uc002giu.1 + 24 4087 c.4073C>T c.(4072-4074)GCA>GTA p.A1358V NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1358 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCTGCTTCAGCAACTAAAGAG 0.527 NA 7 45 0 0 0.001984 0 0 PER1 5187 broad.mit.edu 37 17 8047130 8047130 + Silent SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:8047130T>G uc002gkd.2 - 19 2764 c.2526A>C c.(2524-2526)TCA>TCC p.S842S PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron NM_002616 NP_002607 O15534 PER1_HUMAN period 1 842 Nuclear localization signal (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 GGTGGTGGCGTGAGCGCTTGG 0.677 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 4 56 0 0 0.001168 0 0 MYH8 4626 broad.mit.edu 37 17 10303865 10303865 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:10303865C>A uc002gmm.2 - 27 3672 c.3577G>T c.(3577-3579)GCT>TCT p.A1193S uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1193 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CGAAGAGCAGCCACCATAGCT 0.542 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 14 77 1.05317e-09 1.60056e-09 0.00245 1 0 MEIS3P1 4213 broad.mit.edu 37 17 15690727 15690727 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:15690727C>A uc002gpc.2 + 1 564 c.543C>A c.(541-543)TTC>TTA p.F181L NR_002211 RecName: Full=Homeobox protein Meis3; AltName: Full=Meis1-related protein 2; 0 CCTGGTTGTTCCAGCACCTCT 0.567 NA 12 47 7.03913e-09 1.03118e-08 0.001368 1 0 Unknown 0 broad.mit.edu 37 17 21731274 21731274 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:21731274C>A uc002gyy.3 + 2 701 c.576C>A c.(574-576)AGC>AGA p.S192R SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA CCCCGATCAGCAGAGGCTCAT 0.552 NA 6 37 8.12818e-05 0.000100707 0.001984 1 0 Unknown 0 broad.mit.edu 37 17 21731278 21731278 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:21731278G>A uc002gyy.3 + 2 705 c.580G>A c.(580-582)GGC>AGC p.G194S SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA GATCAGCAGAGGCTCATCTTT 0.547 NA 4 42 0 0 0.009096 0 0 SUPT6H 6830 broad.mit.edu 37 17 27000440 27000440 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:27000440C>T uc002hby.2 + 2 111 c.21C>T c.(19-21)AGC>AGT p.S7S SUPT6H_uc010crt.2_Silent_p.S7S NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 7 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TTGTGGAAAGCGAGGCTGAGG 0.468 NA 5 26 0 0 0.000602 0 0 EVI2B 2124 broad.mit.edu 37 17 29631504 29631504 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:29631504G>T uc002hgk.2 - 2 1279 c.1124C>A c.(1123-1125)CCA>CAA p.P375Q NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.P390Q NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 375 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) GTCCAGAGATGGAGGGAGACT 0.438 NA 13 127 9.05144e-12 1.47692e-11 0.001855 1 0 C17orf102 400591 broad.mit.edu 37 17 32905960 32905960 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:32905960C>G uc002hie.1 - 1 429 c.340G>C c.(340-342)GTG>CTG p.V114L TMEM132E_uc002hif.2_5'Flank NM_207454 NP_997337 A2RUQ5 CQ102_HUMAN hypothetical protein LOC400591 114 ovary(1) 1 AGGTTTCCCACAGCTGCGCCC 0.602 NA 23 148 0 0 0.001882 0 0 ACACA 31 broad.mit.edu 37 17 35486404 35486404 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:35486404T>A uc002hnm.2 - 47 5911 c.5720A>T c.(5719-5721)CAC>CTC p.H1907L ACACA_uc002hnk.2_Missense_Mutation_p.H1829L|ACACA_uc002hnl.2_Missense_Mutation_p.H1849L|ACACA_uc002hnn.2_Missense_Mutation_p.H1907L|ACACA_uc002hno.2_Missense_Mutation_p.H1944L|ACACA_uc010cuy.2_Missense_Mutation_p.H552L|ACACA_uc010wdc.1_Missense_Mutation_p.H33L NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1907 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AACTGAACTGTGCACGCTCTA 0.478 Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 6 32 0 0 0.001984 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316534 39316534 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:39316534T>G uc002hwc.2 - 1 450 c.410A>C c.(409-411)CAG>CCG p.Q137P NM_032524 NP_115913 Q9BYR3 KRA44_HUMAN keratin associated protein 4.4 137 23.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGGTGGTCTGGCAGCACTG 0.647 NA 5 42 0 0 0.00308 0 0 KRTAP4-3 85290 broad.mit.edu 37 17 39324300 39324300 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:39324300G>T uc010cxl.2 - 1 125 c.125C>A c.(124-126)CCC>CAC p.P42H NM_033187 NP_149443 Q9BYR4 KRA43_HUMAN keratin associated protein 4-3 42 29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].|2. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) gcagcagctggggcggcagca 0.294 NA 4 23 0.00024832 0.000299541 0.009096 1 0 KRT38 8687 broad.mit.edu 37 17 39594374 39594374 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:39594374G>T uc002hwq.1 - 6 1635 c.1212C>A c.(1210-1212)TAC>TAA p.Y404* NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 404 Coil 2.|Rod. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) GAAGGTTCCGGTACGTGGCAA 0.547 NA 9 39 4.68919e-08 6.66887e-08 0.008291 1 0 STAT5B 6777 broad.mit.edu 37 17 40359680 40359680 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:40359680T>C uc002hzh.2 - 16 2142 c.1973A>G c.(1972-1974)GAC>GGC p.D658G NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 658 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TCCCAAGCGGTCGGCTAGGGA 0.433 NA 9 77 0 0 0.004482 0 0 COASY 80347 broad.mit.edu 37 17 40716788 40716788 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:40716788G>A uc002hzz.2 + 5 1266 c.1109G>A c.(1108-1110)GGG>GAG p.G370E COASY_uc010cyj.2_Missense_Mutation_p.G399E|COASY_uc002iab.2_Missense_Mutation_p.G75E|COASY_uc002iad.2_Missense_Mutation_p.G370E|COASY_uc002iac.2_Missense_Mutation_p.G370E|COASY_uc002iae.2_Missense_Mutation_p.G165E|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 370 DPCK.|ATP (Potential). coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) AGTGGCTCTGGGAAGAGCTCA 0.587 NA 22 116 0 0 0.001882 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40835871 40835871 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:40835871T>C uc002iay.2 + 2 316 c.100T>C c.(100-102)TAT>CAT p.Y34H CCR10_uc002iax.3_5'Flank|CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 34 Extracellular (Potential).|F5/8 type C. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GGGTCCCCTGTATGCACGCTC 0.642 NA 8 31 0 0 0.006214 0 0 DHX8 1659 broad.mit.edu 37 17 41561531 41561531 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:41561531G>T uc002idu.1 + 1 199 c.126G>T c.(124-126)TTG>TTT p.L42F DHX8_uc010wif.1_5'UTR|DHX8_uc010wig.1_Missense_Mutation_p.L42F NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 42 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACAATCACTTGGGGATCAACG 0.567 NSCLC(56;1548 1661 49258 49987) NA OREG0024434 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 79 9.8876e-21 1.76289e-20 0.004878 1 0 HOXB3 3213 broad.mit.edu 37 17 46628225 46628225 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:46628225G>T uc002inn.2 - 2 1167 c.767C>A c.(766-768)TCG>TAG p.S256* HOXB3_uc010wlm.1_Nonsense_Mutation_p.S183*|HOXB3_uc010dbf.2_Nonsense_Mutation_p.S256*|HOXB3_uc010dbg.2_Nonsense_Mutation_p.S256*|HOXB3_uc002ino.2_Nonsense_Mutation_p.S256*|HOXB3_uc010wlk.1_Nonsense_Mutation_p.S124*|HOXB3_uc010wll.1_Nonsense_Mutation_p.S183* NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 256 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TGGGCCCCCCGACGACGAGGC 0.632 NA OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 88 3.93418e-24 7.10095e-24 0.004289 1 0 CLTC 1213 broad.mit.edu 37 17 57762458 57762458 + Silent SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:57762458T>C uc002ixq.1 + 29 4919 c.4476T>C c.(4474-4476)AAT>AAC p.N1492N CLTC_uc002ixp.2_Silent_p.N1492N|CLTC_uc002ixr.1_Silent_p.N1496N NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 1492 Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ACTTTGACAATATCTCGCTTG 0.378 NA T ALK|TFE3 ALCL|renal 4 170 0 0 0.009096 0 0 TMEM49 81671 broad.mit.edu 37 17 57917156 57917156 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:57917156G>C uc002ixu.3 + 12 1378 c.1105G>C c.(1105-1107)GAA>CAA p.E369Q TMEM49_uc010wog.1_Missense_Mutation_p.E177Q|TMEM49_uc010woh.1_Missense_Mutation_p.E313Q|TMEM49_uc010woi.1_Missense_Mutation_p.E272Q|TMEM49_uc010woj.1_Missense_Mutation_p.E235Q|TMEM49_uc002ixv.2_RNA|MIR21_hsa-mir-21|MI0000077_5'Flank NM_030938 NP_112200 Q96GC9 VMP1_HUMAN transmembrane protein 49 369 Helical; (Potential). autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;1.15e-09)|all cancers(12;1.15e-08) CTGGATGTTTGAAAAGTTGGT 0.388 NA 39 382 0 0 0.00874 0 0 BCAS3 54828 broad.mit.edu 37 17 58786659 58786659 + Silent SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:58786659T>C uc002iyv.3 + 5 403 c.294T>C c.(292-294)AGT>AGC p.S98S BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Silent_p.S98S|BCAS3_uc002iyw.3_Silent_p.S94S NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 98 WD 1. nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TTGGCTACAGTGATGGAATGC 0.373 NA 30 57 0 0 0.008361 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796792 62796792 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:62796792G>A uc002jew.3 - 6 1159 c.248C>T c.(247-249)TCC>TTC p.S83F PLEKHM1P_uc002jev.3_RNA|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.S83F NR_024386 RecName: Full=Putative pleckstrin homology domain-containing family M member 1P; 0 GTCCTGGGAGGAGGCGCGCAG 0.642 NA 6 26 0 0 0.001168 0 0 WIPI1 55062 broad.mit.edu 37 17 66440705 66440705 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:66440705G>A uc010dey.2 - 4 450 c.359C>T c.(358-360)TCC>TTC p.S120F WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.S38F|WIPI1_uc002jhe.3_RNA NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 120 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding 0 AATATAAATGGACTCTTCTAG 0.428 NA 7 68 0 0 0.00308 0 0 C17orf28 283987 broad.mit.edu 37 17 72954520 72954520 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:72954520C>T uc002jmj.3 - 11 1443 c.1294G>A c.(1294-1296)GAG>AAG p.E432K C17orf28_uc010wrs.1_Missense_Mutation_p.E231K NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 432 Helical; (Potential). integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) AAGTTCCGCTCCCCGCTCAGA 0.632 NA OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 12 0 0 0.009096 0 0 NUP85 79902 broad.mit.edu 37 17 73229160 73229160 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:73229160A>G uc002jng.1 + 16 1782 c.1522A>G c.(1522-1524)AGG>GGG p.R508G NUP85_uc010dgd.1_Missense_Mutation_p.R463G|NUP85_uc010wrv.1_Missense_Mutation_p.R462G|NUP85_uc002jnh.1_Missense_Mutation_p.R111G NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 508 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CAGGTTCCTCAGGGATTACTG 0.587 NA 3 114 0 0 0.004672 0 0 RHBDF2 79651 broad.mit.edu 37 17 74473863 74473863 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:74473863C>T uc002jrq.1 - 7 1057 c.764G>A c.(763-765)CGC>CAC p.R255H RHBDF2_uc002jrp.1_Missense_Mutation_p.R226H|RHBDF2_uc002jrr.1_Missense_Mutation_p.R107H|RHBDF2_uc010wtf.1_Missense_Mutation_p.R226H|RHBDF2_uc002jrs.1_Missense_Mutation_p.R250H NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 255 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 CAGCACCGAGCGCCCCTGTGC 0.667 NA 11 63 0 0 0.008291 0 0 NARF 26502 broad.mit.edu 37 17 80436675 80436675 + Splice_Site SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:80436675G>T uc002kfg.3 + 6 661 c.521_splice c.e6-1 p.G174_splice NARF_uc002kff.3_Splice_Site_p.G115_splice|NARF_uc010wvo.1_Splice_Site_p.G129_splice|NARF_uc010wvp.1_Splice_Site_p.G46_splice|NARF_uc010dit.2_Splice_Site_p.G174_splice|NARF_uc002kfj.3_Splice_Site_p.G126_splice|NARF_uc002kfi.3_Splice_Site|NARF_uc002kfh.3_Splice_Site_p.G174_splice|NARF_uc002kfk.2_Splice_Site NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TCTCTCCCCAGGCTGGGTCCG 0.642 NA 7 32 0.00448238 0.00496458 0.004482 1 0 USP14 9097 broad.mit.edu 37 18 196747 196747 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:196747C>A uc002kkf.1 + 7 790 c.574C>A c.(574-576)CAA>AAA p.Q192K USP14_uc002kkg.1_Missense_Mutation_p.Q157K|USP14_uc010wyr.1_Missense_Mutation_p.Q181K NM_005151 NP_005142 P54578 UBP14_HUMAN ubiquitin specific protease 14 isoform a 192 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2) 2 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) GAAAGGTGAACAAGGACAGTA 0.368 NA 20 126 2.27731e-05 2.936e-05 0.001882 1 0 EMILIN2 84034 broad.mit.edu 37 18 2913094 2913094 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:2913094T>A uc002kln.2 + 8 3013 c.2854T>A c.(2854-2856)TAC>AAC p.Y952N NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 952 C1q. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) TGATGGGCGCTACCTGATCAC 0.627 NA 5 47 0 0 0.001168 0 0 DLGAP1 9229 broad.mit.edu 37 18 3534268 3534268 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:3534268C>T uc002kmf.2 - 7 2470 c.2403G>A c.(2401-2403)CAG>CAA p.Q801Q DLGAP1_uc010wyz.1_Silent_p.Q801Q|DLGAP1_uc002kme.1_Silent_p.Q499Q|DLGAP1_uc010dkn.2_Silent_p.Q509Q|DLGAP1_uc010wyw.1_Silent_p.Q507Q|DLGAP1_uc010wyx.1_Silent_p.Q523Q|DLGAP1_uc010wyy.1_Silent_p.Q485Q|DLGAP1_uc002kmg.2_Silent_p.Q499Q NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 801 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) CTCGCTCTGCCTGGAGAAGCT 0.587 NA 10 26 0 0 0.000978 0 0 EPB41L3 23136 broad.mit.edu 37 18 5434024 5434024 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:5434024C>T uc002kmt.1 - 7 788 c.702G>A c.(700-702)CAG>CAA p.Q234Q EPB41L3_uc010wzh.1_Silent_p.Q234Q|EPB41L3_uc002kmu.1_Silent_p.Q234Q|EPB41L3_uc010dkq.1_Silent_p.Q125Q|EPB41L3_uc010dks.1_Silent_p.Q256Q|EPB41L3_uc002kmv.1_Silent_p.Q125Q NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 234 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CGAGCTCTGACTGGACAGTGT 0.517 NA 7 70 0 0 0.001984 0 0 CIDEA 1149 broad.mit.edu 37 18 12262964 12262964 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:12262964G>T uc002kqt.3 + 2 244 c.179G>T c.(178-180)AGC>ATC p.S60I CIDEA_uc002kqu.3_Missense_Mutation_p.S94I|CIDEA_uc010dlc.2_RNA NM_001279 NP_001270 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a isoform 60 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity ovary(1)|central_nervous_system(1) 2 GAGCTCATCAGCAAGGTGCCC 0.642 NA 3 14 0.004672 0.00512029 0.004672 1 0 RNMT 8731 broad.mit.edu 37 18 13731883 13731883 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:13731883A>T uc002ksk.1 + 2 434 c.367A>T c.(367-369)ACT>TCT p.T123S RNMT_uc002ksl.1_Missense_Mutation_p.T123S|RNMT_uc002ksm.1_Missense_Mutation_p.T123S|RNMT_uc010dlk.2_Missense_Mutation_p.T123S|RNMT_uc010xae.1_Intron NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 123 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 TGGAGATGGCACTCAAAATAA 0.333 GBM(29;474 594 19092 36647 41529) NA 12 73 0 0 0.001855 0 0 ZNF396 252884 broad.mit.edu 37 18 32954025 32954025 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:32954025G>A uc010xcf.1 - 2 364 c.232C>T c.(232-234)CAT>TAT p.H78Y NM_145756 NP_665699 Q96N95 ZN396_HUMAN zinc finger protein 396 78 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCCAGAGATGACAAAGTTCC 0.597 NA 6 38 0 0 0.001984 0 0 ELP2 55250 broad.mit.edu 37 18 33751061 33751061 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:33751061G>C uc002kzk.1 + 21 2272 c.2262G>C c.(2260-2262)TGG>TGC p.W754C ELP2_uc010xcg.1_Missense_Mutation_p.W819C|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.W728C|ELP2_uc010xch.1_Missense_Mutation_p.W749C|ELP2_uc002kzn.1_Missense_Mutation_p.W684C|ELP2_uc002kzo.1_Missense_Mutation_p.W684C NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 754 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 TATATACCTGGAAAAAGACTG 0.368 NA 4 39 0 0 0.009096 0 0 PIK3C3 5289 broad.mit.edu 37 18 39570474 39570474 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:39570474G>T uc002lap.2 + 6 728 c.670G>T c.(670-672)GTC>TTC p.V224F PIK3C3_uc010xcl.1_Missense_Mutation_p.V161F NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 224 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 ATTTCGATGTGTCAAGTGTGA 0.308 NSCLC(37;552 1060 2683 16430 37914) NA TSP Lung(28;0.18) 6 43 1.76689e-08 2.55257e-08 0.006214 1 0 SLC14A1 6563 broad.mit.edu 37 18 43310394 43310395 + Missense_Mutation DNP TA TA CT TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:43310394_43310395TA>CT uc010xcn.1 + 4 428_429 c.109_110TA>CT c.(109-111)TAT>CTT p.Y37L SLC14A1_uc010dnk.2_Missense_Mutation_p.Y93L|SLC14A1_uc002lbf.3_Missense_Mutation_p.Y37L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.Y93L|SLC14A1_uc002lbk.3_Missense_Mutation_p.Y37L NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 37 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 AGCTCTTGGCTATGTCACCGGT 0.485 NA 11 62 0 0 0.004672 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561625 44561625 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:44561625C>T uc002lcr.1 - 1 364 c.11G>A c.(10-12)GGG>GAG p.G4E KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 4 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CGTAGTGGACCCTGCCGCCAT 0.617 NA 4 29 0 0 0.009096 0 0 NEDD4L 23327 broad.mit.edu 37 18 56033381 56033381 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:56033381G>T uc002lgy.2 + 21 2258 c.1984G>T c.(1984-1986)GGT>TGT p.G662C NEDD4L_uc002lgz.2_Missense_Mutation_p.G598C|NEDD4L_uc002lgx.2_Missense_Mutation_p.G642C|NEDD4L_uc010xee.1_Missense_Mutation_p.G541C|NEDD4L_uc002lhc.2_Missense_Mutation_p.G654C|NEDD4L_uc002lhd.2_Missense_Mutation_p.G541C|NEDD4L_uc002lhb.2_Missense_Mutation_p.G521C|NEDD4L_uc002lhe.2_Missense_Mutation_p.G634C|NEDD4L_uc002lhf.2_Missense_Mutation_p.G521C|NEDD4L_uc002lhg.2_Missense_Mutation_p.G541C|NEDD4L_uc002lhh.2_Missense_Mutation_p.G437C|NEDD4L_uc010dpn.2_5'UTR NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 662 HECT. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 TGACTATGGGGGTGTGGCCAG 0.458 NA 4 29 0.00909568 0.00987956 0.009096 1 0 KIAA1468 57614 broad.mit.edu 37 18 59855222 59855222 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:59855222G>T uc002lil.2 + 1 699 c.484G>T c.(484-486)GGA>TGA p.G162* PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Nonsense_Mutation_p.G162*|KIAA1468_uc010xel.1_Nonsense_Mutation_p.G162* NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 162 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) TGGGGGCGCTGGAGGTCGGGA 0.642 NA OREG0025032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 8 5.9392e-07 8.17619e-07 0.001168 1 0 KIAA1468 57614 broad.mit.edu 37 18 59888679 59888679 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:59888679G>T uc002lil.2 + 5 1022 c.807G>T c.(805-807)AAG>AAT p.K269N KIAA1468_uc002lik.1_Missense_Mutation_p.K269N|KIAA1468_uc010xel.1_Missense_Mutation_p.K269N|KIAA1468_uc002lim.2_5'UTR NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 269 LisH. binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) TTTTATTGAAGAATAACTATA 0.299 NA 8 61 0.000157383 0.000192065 0.00308 1 0 SERPINB8 5271 broad.mit.edu 37 18 61645624 61645624 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:61645624G>A uc002ljv.2 + 2 251 c.82G>A c.(82-84)GTA>ATA p.V28I SERPINB8_uc002ljs.1_Missense_Mutation_p.V28I|SERPINB8_uc002ljt.2_Missense_Mutation_p.V28I|SERPINB8_uc002lju.2_Missense_Mutation_p.V28I|SERPINB8_uc010xex.1_Intron NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 28 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) CTCAAGAAACGTATTCTTCTC 0.488 NA 18 55 0 0 0.00499 0 0 CTDP1 9150 broad.mit.edu 37 18 77464788 77464788 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr18:77464788G>T uc002lnh.1 + 5 790 c.643G>T c.(643-645)GGC>TGC p.G215C CTDP1_uc002lni.1_Missense_Mutation_p.G215C|CTDP1_uc010drd.1_Missense_Mutation_p.G215C NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 215 FCP1 homology. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CTTCCAGCTGGGCCGGGGTGA 0.607 NA 5 55 2.7689e-08 3.97655e-08 0.001984 1 0 ABCA7 10347 broad.mit.edu 37 19 1055931 1055931 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:1055931G>A uc002lqw.3 + 31 4462 c.4231G>A c.(4231-4233)GAG>AAG p.E1411K ABCA7_uc010dsb.1_Missense_Mutation_p.E1273K|ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1411 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGGTGAATGAGGTCAGGTG 0.632 NA 9 30 0 0 0.008291 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2410317 2410317 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:2410317C>T uc010xgx.1 + 8 1077 c.1077C>T c.(1075-1077)GCC>GCT p.A359A TMPRSS9_uc002lvv.1_Silent_p.A393A NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 359 Extracellular (Potential).|Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACTGTGTGCCAGCTTGTACG 0.627 NA 8 44 0 0 0.00308 0 0 NFIC 4782 broad.mit.edu 37 19 3433537 3433537 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:3433537G>C uc010xhi.1 + 4 718 c.656G>C c.(655-657)AGC>ACC p.S219T NFIC_uc002lxo.2_Missense_Mutation_p.S210T|NFIC_uc010xhh.1_Missense_Mutation_p.S210T|NFIC_uc002lxp.2_Missense_Mutation_p.S219T|NFIC_uc010xhj.1_Missense_Mutation_p.S219T|NFIC_uc002lxq.1_Missense_Mutation_p.S171T NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 219 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) TTCCAGGAGAGCTTTGTCACC 0.622 NA 4 34 0 0 0.000602 0 0 EBI3 10148 broad.mit.edu 37 19 4231316 4231316 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:4231316T>A uc002lzu.2 + 2 204 c.196T>A c.(196-198)TAC>AAC p.Y66N NM_005755 NP_005746 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 precursor 66 Fibronectin type-III 1. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) CATTGCCACGTACAGGTCGGA 0.637 NA 3 15 0 0 0.009096 0 0 FBN3 84467 broad.mit.edu 37 19 8160275 8160275 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:8160275A>T uc002mjf.2 - 45 5790 c.5769T>A c.(5767-5769)GAT>GAA p.D1923E NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1923 EGF-like 30; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 AGTTCTTCCCATCAGCTGTGA 0.517 NA 4 33 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9064859 9064859 + Silent SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:9064859A>T uc002mkp.2 - 3 22791 c.22587T>A c.(22585-22587)ACT>ACA p.T7529T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7531 Ser-rich.|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 GAATTTTCCTAGTGTTAGATA 0.478 NA 12 55 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9065531 9065531 + Silent SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:9065531G>C uc002mkp.2 - 3 22119 c.21915C>G c.(21913-21915)ACC>ACG p.T7305T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7307 Ser-rich.|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 TTTTTCTTGTGGTGGATATTT 0.463 NA 8 38 0 0 0.00308 0 0 MUC16 94025 broad.mit.edu 37 19 9088103 9088103 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:9088103T>C uc002mkp.2 - 1 3916 c.3712A>G c.(3712-3714)ACC>GCC p.T1238A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1238 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 GTGCTGAGGGTTGGAAGTCCC 0.507 NA 60 293 0 0 0.00361 0 0 CYP4F22 126410 broad.mit.edu 37 19 15648395 15648395 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:15648395C>A uc002nbh.3 + 6 638 c.471C>A c.(469-471)CGC>CGA p.R157R NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 157 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 GGCACCGTCGCCTGCTGACAC 0.547 NA 12 55 6.40141e-05 8.01272e-05 0.000978 1 0 MYO9B 4650 broad.mit.edu 37 19 17212808 17212808 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:17212808G>T uc010eak.2 + 2 433 c.281G>T c.(280-282)CGG>CTG p.R94L MYO9B_uc002nfi.2_Missense_Mutation_p.R94L|MYO9B_uc002nfj.1_Missense_Mutation_p.R94L NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 94 Ras-associating.|Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 TGGCCCCGGCGGGCACAGGAC 0.607 NA 3 20 0.004672 0.00512029 0.004672 1 0 UNC13A 23025 broad.mit.edu 37 19 17756920 17756920 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:17756920A>T uc002nhd.2 - 18 2309 c.2309T>A c.(2308-2310)GTG>GAG p.V770E NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 682 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GGCGCAGACCACTGGAAGACA 0.567 NA 3 18 0 0 0.009096 0 0 GDF15 9518 broad.mit.edu 37 19 18499157 18499157 + Silent SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:18499157G>C uc002niv.2 + 2 371 c.339G>C c.(337-339)GGG>GGC p.G113G NM_004864 NP_004855 Q99988 GDF15_HUMAN growth differentiation factor 15 113 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1) 1 TTCCCGAGGGGCTCCCCGAGG 0.701 NA OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 21 0 0 0.004672 0 0 TMEM59L 25789 broad.mit.edu 37 19 18729267 18729267 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:18729267C>T uc002njy.3 + 7 952 c.865C>T c.(865-867)CTG>TTG p.L289L NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 289 Helical; (Potential). Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 CTGCTCCACCCTGGTGACCGC 0.677 NA 3 12 0 0 0.004672 0 0 ZNF90 7643 broad.mit.edu 37 19 20215049 20215049 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:20215049G>C uc002nor.2 + 2 144 c.5G>C c.(4-6)GGA>GCA p.G2A ZNF90_uc002nos.1_RNA|ZNF90_uc002not.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN zinc finger protein 90 2 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GTTTTTCAGGGACCATTGGAA 0.403 NA 7 72 0 0 0.001984 0 0 ZNF676 163223 broad.mit.edu 37 19 22363427 22363427 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:22363427G>T uc002nqs.1 - 3 1410 c.1092C>A c.(1090-1092)CCC>CCA p.P364P NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CACATTTGTAGGGTTTCTCTC 0.388 NA 9 53 3.09899e-07 4.29859e-07 0.004482 1 0 ZNF99 7652 broad.mit.edu 37 19 22940689 22940689 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:22940689C>G uc010xrh.1 - 5 1749 c.1749G>C c.(1747-1749)GAG>GAC p.E583D NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTAGGGTTTCTCTTCAGTAT 0.363 NA 6 24 0 0 0.001168 0 0 ZNF536 9745 broad.mit.edu 37 19 30935819 30935819 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:30935819C>A uc002nsu.1 + 2 1488 c.1350C>A c.(1348-1350)AGC>AGA p.S450R ZNF536_uc010edd.1_Missense_Mutation_p.S450R NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCGAGCCCAGCCAGCTCTATG 0.657 NA 7 19 0.000157383 0.000192065 0.00308 1 0 ZNF536 9745 broad.mit.edu 37 19 30936301 30936301 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:30936301G>T uc002nsu.1 + 2 1970 c.1832G>T c.(1831-1833)GGG>GTG p.G611V ZNF536_uc010edd.1_Missense_Mutation_p.G611V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TTGTCACACGGGCTGAACCAG 0.557 NA 12 94 1.61879e-10 2.53391e-10 0.001368 1 0 TSHZ3 57616 broad.mit.edu 37 19 31767930 31767930 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:31767930G>T uc002nsy.3 - 2 2834 c.2769C>A c.(2767-2769)ATC>ATA p.I923I NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 923 Homeobox; atypical. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GGTCTGACATGATGTACTTCC 0.607 NA 3 27 0.00909568 0.00987956 0.009096 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768285 31768285 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:31768285G>T uc002nsy.3 - 2 2479 c.2414C>A c.(2413-2415)TCA>TAA p.S805* NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 805 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CAGAAGCACTGAACCCAAGGA 0.542 NA 9 34 1.12685e-05 1.47621e-05 0.004482 1 0 USF2 7392 broad.mit.edu 37 19 35769860 35769860 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:35769860G>T uc002nyq.1 + 9 943 c.834G>T c.(832-834)GGG>GGT p.G278G USF2_uc010xss.1_Silent_p.G278G|USF2_uc002nyr.1_Silent_p.G211G|USF2_uc002nys.1_Silent_p.G80G|USF2_uc002nyt.1_Silent_p.G147G|USF2_uc002nyu.1_Silent_p.G80G|USF2_uc002nyv.1_Intron NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 278 Helix-loop-helix motif. lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GTAAAGGAGGGATCCTGTCCA 0.652 NSCLC(103;173 2832 8890) NA 12 36 2.80697e-09 4.19611e-09 0.000978 1 0 FFAR3 2865 broad.mit.edu 37 19 35850521 35850521 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:35850521G>T uc002nzd.2 + 2 804 c.729G>T c.(727-729)GTG>GTT p.V243V FFAR3_uc010xsu.1_Intron NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 243 Helical; Name=6; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCTACAACGTGTCCCATGTCG 0.627 Esophageal Squamous(185;1742 2042 21963 24215 27871) NA 13 178 9.05144e-12 1.47692e-11 0.001855 1 0 TMEM149 79713 broad.mit.edu 37 19 36230816 36230816 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:36230816G>A uc002obc.2 - 4 617 c.516C>T c.(514-516)ACC>ACT p.T172T TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.T172T|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.T252T NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 172 Helical; (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) TCACCGCCAAGGTCAGGAGCA 0.602 NA 16 59 0 0 0.003163 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676140 37676140 + Missense_Mutation SNP T T A rs149106602 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:37676140T>A uc002ofq.2 - 5 2553 c.2299A>T c.(2299-2301)AGC>TGC p.S767C uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.S581C NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 767 C2H2-type 21. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAAGCGTGGCTGCTCTGATGA 0.448 Melanoma(93;882 1454 18863 28917 48427) NA 17 80 0 0 0.006122 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41447305 41447306 + Missense_Mutation DNP GA GA TG TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:41447305_41447306GA>TG uc010ehh.1 + 5 758_759 c.750_751GA>TG c.(748-753)GAGAAG>GATGAG p.250_251EK>DE CYP2A7_uc002opo.2_Intron|CYP2B7P1_uc002opq.2_RNA SubName: Full=Cytochrome P450, family 2, subfamily B, polypeptide 6; ovary(1)|skin(1) 2 ACAGTGTGGAGAAGCACCGTGA 0.465 NA 10 88 0 0 0.004672 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622111 41622111 + Silent SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:41622111A>T uc002opu.1 + 2 74 c.18A>T c.(16-18)ACA>ACT p.T6T CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Silent_p.T6T|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 6 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 GCATAAGCACAGCCATCTTAC 0.577 NA 18 85 0 0 0.006122 0 0 PSG5 5673 broad.mit.edu 37 19 43679578 43679578 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:43679578G>A uc002ovu.2 - 4 884 c.753C>T c.(751-753)TAC>TAT p.Y251Y PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Silent_p.Y126Y|PSG5_uc002ovx.2_Silent_p.Y251Y|PSG5_uc002ovv.2_Silent_p.Y344Y|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 251 Ig-like C2-type 2. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) CTCCTGAACGGTAATAGGTGA 0.478 NA 22 170 0 0 0.010504 0 0 SIX5 147912 broad.mit.edu 37 19 46270388 46270388 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:46270388C>G uc002pdb.2 - 2 1224 c.829G>C c.(829-831)GAG>CAG p.E277Q SIX5_uc002pdc.2_Intron NM_175875 NP_787071 Q8N196 SIX5_HUMAN SIX homeobox 5 277 cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) GACTCGTCCTCAGTCGTGGGA 0.677 NA 3 19 0 0 0.004672 0 0 TPRX1 284355 broad.mit.edu 37 19 48305217 48305217 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:48305217G>A uc002php.1 - 2 1122 c.1051C>T c.(1051-1053)CCT>TCT p.P351S NM_198479 NP_940881 Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 351 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GTGAAGTGAGGGAATAACTGG 0.433 Esophageal Squamous(123;175 2281 3051 32395) NA 15 52 0 0 0.003163 0 0 NUP62 23636 broad.mit.edu 37 19 50411625 50411625 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:50411625C>A uc002pqx.2 - 2 1544 c.1440G>T c.(1438-1440)GCG>GCT p.A480A IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.A480A|NUP62_uc002pqz.2_Silent_p.A480A|NUP62_uc002pra.2_Silent_p.A480A|NUP62_uc002prb.2_Silent_p.A480A|NUP62_uc002prc.2_Silent_p.A404A NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 480 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGTCCATGTGCGCATTGAGGA 0.627 NA 15 110 3.41278e-10 5.2743e-10 0.00499 1 0 KLK13 26085 broad.mit.edu 37 19 51560016 51560016 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:51560016G>A uc002pvn.2 - 5 705 c.662C>T c.(661-663)CCC>CTC p.P221L KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.P148L|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.P69L NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 221 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) ACAGACCAGGGGGCCCCCAGA 0.582 NA 8 42 0 0 0.00308 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132731 52132731 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:52132731G>T uc002pxe.2 - 3 719 c.580C>A c.(580-582)CGC>AGC p.R194S NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 194 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TCCGAGGAGCGGGTGGTCTCG 0.637 NA 5 25 0.000602214 0.000706611 0.000602 1 0 ZNF432 9668 broad.mit.edu 37 19 52538203 52538203 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:52538203G>T uc002pyk.2 - 5 1047 c.729C>A c.(727-729)TCC>TCA p.S243S NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 243 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TGGACTTTCTGGAGAACACTT 0.388 NA 24 135 4.59853e-10 7.03248e-10 0.005443 1 0 ZNF841 284371 broad.mit.edu 37 19 52569171 52569171 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:52569171C>G uc002pyl.1 - 5 2168 c.1616G>C c.(1615-1617)TGT>TCT p.C539S ZNF841_uc010ydh.1_Missense_Mutation_p.C655S|ZNF841_uc010epk.1_Intron NM_001136499 NP_001129971 Q6ZN19 ZN841_HUMAN zinc finger protein 841 539 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACAATCATTACATTTATAAGG 0.423 NA 14 87 0 0 0.001855 0 0 ZNF836 162962 broad.mit.edu 37 19 52663757 52663757 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:52663757C>T uc010ydi.1 - 4 477 c.103G>A c.(103-105)GAT>AAT p.D35N ZNF836_uc010ydj.1_Missense_Mutation_p.D35N NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AACATCACATCCCAGTACAAA 0.433 NA 16 84 0 0 0.004007 0 0 ZNF534 147658 broad.mit.edu 37 19 52941164 52941164 + Missense_Mutation SNP A A C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:52941164A>C uc002pzk.2 + 4 551 c.490A>C c.(490-492)AGT>CGT p.S164R ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.S151R NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTTCAAATAAGTTTTTTCAG 0.323 NA 9 42 0 0 0.004482 0 0 ZNF813 126017 broad.mit.edu 37 19 53995126 53995126 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:53995126G>C uc002qbu.2 + 4 1768 c.1640G>C c.(1639-1641)GGA>GCA p.G547A ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CTTCATACTGGAGATAAACCT 0.378 NA 9 20 0 0 0.004482 0 0 U2AF2 11338 broad.mit.edu 37 19 56173908 56173908 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:56173908G>T uc002qlu.2 + 6 1582 c.527G>T c.(526-528)GGG>GTG p.G176V U2AF2_uc002qlt.2_Missense_Mutation_p.G176V NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 176 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ATGCGCCTGGGGGGGCTGACC 0.458 NA 5 53 0.00116845 0.00134087 0.001168 1 0 NLRP13 126204 broad.mit.edu 37 19 56424218 56424218 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:56424218C>G uc010ygg.1 - 5 990 c.965G>C c.(964-966)CGC>CCC p.R322P NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 322 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCTCTCAGAGCGTGACTCAGA 0.463 NA 13 53 0 0 0.001368 0 0 ZNF470 388566 broad.mit.edu 37 19 57089368 57089368 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr19:57089368T>A uc002qnl.3 + 6 2247 c.1571T>A c.(1570-1572)CTC>CAC p.L524H ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 524 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) AATGCACACCTCGCGCAACAT 0.463 NA 11 40 0 0 0.008291 0 0 TMEM18 129787 broad.mit.edu 37 2 675509 675509 + Splice_Site SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:675509C>A uc002qwl.2 - 2 272 c.178_splice c.e2+1 p.V60_splice TMEM18_uc002qwk.2_Splice_Site|uc002qwm.1_5'Flank NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) GTTTTACTCACCTAGACACAG 0.468 NA 12 59 2.61681e-11 4.18576e-11 0.00245 1 0 PXDN 7837 broad.mit.edu 37 2 1653320 1653320 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:1653320G>T uc002qxa.2 - 17 2296 c.2232C>A c.(2230-2232)CAC>CAA p.H744Q NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 744 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGGTGCCGTCGTGCGTCCGGT 0.612 NA 14 93 1.5739e-10 2.46892e-10 0.004007 1 0 GRHL1 29841 broad.mit.edu 37 2 10136041 10136041 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:10136041G>T uc002raa.2 + 13 1705 c.1534G>T c.(1534-1536)GAT>TAT p.D512Y GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.D323Y|GRHL1_uc010yjb.1_Missense_Mutation_p.D361Y NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 512 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CGGCACAGAAGATGACTTTGC 0.453 NA 25 185 1.1804e-14 2.01135e-14 0.003954 1 0 NCOA1 8648 broad.mit.edu 37 2 24929509 24929509 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:24929509C>T uc002rfk.2 + 11 1428 c.1170C>T c.(1168-1170)GTC>GTT p.V390V NCOA1_uc010eye.2_Silent_p.V390V|NCOA1_uc002rfi.2_Silent_p.V239V|NCOA1_uc002rfj.2_Silent_p.V390V|NCOA1_uc002rfl.2_Silent_p.V390V NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 390 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCCCTCGGTCAATCCTAGTA 0.473 NA T PAX3 alveolar rhadomyosarcoma 4 38 0 0 0.001168 0 0 C2orf53 339779 broad.mit.edu 37 2 27360020 27360020 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:27360020G>T uc002rjb.2 - 3 1758 c.1178C>A c.(1177-1179)CCT>CAT p.P393H PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank NM_178553 NP_848648 Q53SZ7 CB053_HUMAN hypothetical protein LOC339779 393 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCAGGGCAAGGCCTGGGCTT 0.582 NA 12 66 4.3838e-07 6.06924e-07 0.001855 1 0 DNAJC5G 285126 broad.mit.edu 37 2 27501140 27501140 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:27501140C>T uc002rjl.1 + 5 878 c.460C>T c.(460-462)CCT>TCT p.P154S SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Silent_p.H66H|DNAJC5G_uc002rjm.1_Missense_Mutation_p.P154S NM_173650 NP_775921 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 154 protein folding membrane heat shock protein binding|unfolded protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAACCACCACCTGAGCAGGA 0.403 NA 5 23 0 0 0.000602 0 0 XDH 7498 broad.mit.edu 37 2 31573033 31573033 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:31573033C>T uc002rnv.1 - 25 2767 c.2688G>A c.(2686-2688)CGG>CGA p.R896R NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 896 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GCCCAGTGCCCCGGATGTTGG 0.532 Colon(66;682 1445 30109 40147) NA 11 84 0 0 0.000978 0 0 FSHR 2492 broad.mit.edu 37 2 49190968 49190968 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:49190968G>T uc002rww.2 - 10 1066 c.992C>A c.(991-993)ACT>AAT p.T331N FSHR_uc002rwx.2_Missense_Mutation_p.T269N|FSHR_uc010fbn.2_Missense_Mutation_p.T305N NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 331 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GTCAAACTCAGTGTACGTCAT 0.463 NA Gonadal_Dysgenesis_46_XX 11 142 5.16669e-11 8.19273e-11 0.000978 1 0 NRXN1 9378 broad.mit.edu 37 2 50149280 50149280 + Silent SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:50149280G>C uc010fbp.2 - 6 1938 c.1131C>G c.(1129-1131)GCC>GCG p.A377A NRXN1_uc002rxb.3_Silent_p.A1111A|NRXN1_uc010fbq.2_Silent_p.A1482A|NRXN1_uc002rxe.3_Silent_p.A1412A|NRXN1_uc010yon.1_Silent_p.A77A|NRXN1_uc002rxa.3_Silent_p.A74A NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 377 Poly-Ala.|Helical; (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGATGCACAGGGCGGCAGCGG 0.562 NA 6 45 0 0 0.001984 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71361141 71361141 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:71361141G>T uc002sht.1 + 3 1184 c.832G>T c.(832-834)GAC>TAC p.D278Y MPHOSPH10_uc010feb.1_Missense_Mutation_p.D278Y NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 278 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 AAGTGATGAAGACATAACAAA 0.303 NA 7 38 8.12818e-05 0.000100707 0.001984 1 0 IL1RL2 8808 broad.mit.edu 37 2 102818106 102818106 + Missense_Mutation SNP G G T rs142080534 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:102818106G>T uc002tbs.2 + 5 706 c.580G>T c.(580-582)GCG>TCG p.A194S IL1RL2_uc002tbt.2_Missense_Mutation_p.A77S NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 precursor 194 Extracellular (Potential).|Ig-like C2-type 2. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity ovary(2) 2 AGGGAACTACGCGTGTCAAGC 0.473 NA 8 51 5.18039e-06 6.91034e-06 0.00308 1 0 SLC9A4 389015 broad.mit.edu 37 2 103120017 103120017 + Silent SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:103120017G>C uc002tbz.3 + 3 1288 c.831G>C c.(829-831)GGG>GGC p.G277G NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 277 Helical; Name=H/M6; (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GGCTTGGAGGGGTATTGTTTG 0.398 NA 6 64 0 0 0.001168 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459724 107459724 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:107459724C>A uc002tdq.2 - 2 829 c.710G>T c.(709-711)CGC>CTC p.R237L ST6GAL2_uc002tdr.2_Missense_Mutation_p.R237L|ST6GAL2_uc002tds.3_Missense_Mutation_p.R237L NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 237 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CCCGCGGAAGCGCACCCCGTG 0.687 NA 3 6 0.004672 0.00512029 0.004672 1 0 PTPN4 5775 broad.mit.edu 37 2 120714508 120714508 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:120714508C>T uc002tmf.1 + 21 2840 c.2069C>T c.(2068-2070)CCT>CTT p.P690L PTPN4_uc010flj.1_Missense_Mutation_p.P403L|PTPN4_uc010yyr.1_Missense_Mutation_p.P323L NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 690 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) GATATTTCGCCTTGTAAGTAT 0.289 NA 15 105 0 0 0.00245 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204494 125204494 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:125204494G>T uc002tno.2 + 6 1262 c.898G>T c.(898-900)GCC>TCC p.A300S CNTNAP5_uc010flu.2_Missense_Mutation_p.A300S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 300 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CGAGACGGATGCCTTAGACAT 0.557 NA 8 40 5.18039e-06 6.91034e-06 0.00308 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125530543 125530543 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:125530543A>T uc002tno.2 + 17 3062 c.2698A>T c.(2698-2700)ACG>TCG p.T900S CNTNAP5_uc010flu.2_Missense_Mutation_p.T901S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 900 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CACCAGGGAGACGTCGGAGGA 0.527 NA 6 113 0 0 0.001168 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541158 133541158 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:133541158G>T uc002ttp.2 - 14 3600 c.3226C>A c.(3226-3228)CTG>ATG p.L1076M NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1076 protein binding 0 GTCATTTCCAGTGGCTCATGG 0.512 NA 21 199 1.96895e-08 2.83886e-08 0.00278 1 0 THSD7B 80731 broad.mit.edu 37 2 137928454 137928454 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:137928454G>A uc002tva.1 + 6 1576 c.1576G>A c.(1576-1578)GGA>AGA p.G526R THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.G416R NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CCCTGATCATGGAAAATGTGG 0.522 NA 10 39 0 0 0.006214 0 0 LRP1B 53353 broad.mit.edu 37 2 141083415 141083415 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:141083415A>G uc002tvj.1 - 80 13228 c.12256T>C c.(12256-12258)TAT>CAT p.Y4086H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4086 Extracellular (Potential).|LDL-receptor class B 36. 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) TCAGCCCAATATATGCGTTCA 0.378 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 7 42 0 0 0.001984 0 0 ZEB2 9839 broad.mit.edu 37 2 145157460 145157460 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:145157460C>A uc002tvu.2 - 8 1774 c.1294G>T c.(1294-1296)GCT>TCT p.A432S ZEB2_uc002tvv.2_Missense_Mutation_p.A426S|ZEB2_uc010zbm.1_Missense_Mutation_p.A403S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.A461S NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 432 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) GGACTCTGAGCAGATGGATGA 0.458 Melanoma(33;1235 1264 5755 16332) NA 13 58 7.03913e-09 1.03118e-08 0.001368 1 0 RIF1 55183 broad.mit.edu 37 2 152301885 152301885 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:152301885C>A uc002txm.2 + 19 2150 c.2020C>A c.(2020-2022)CAT>AAT p.H674N RIF1_uc002txl.2_Missense_Mutation_p.H674N|RIF1_uc010fnv.1_Missense_Mutation_p.H638N|RIF1_uc002txn.2_Missense_Mutation_p.H674N|RIF1_uc002txo.2_Missense_Mutation_p.H674N NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 674 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGCCTTAGAACATAATTTTAG 0.318 NA 9 87 2.17888e-05 2.81406e-05 0.006214 1 0 GALNT13 114805 broad.mit.edu 37 2 155099310 155099310 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:155099310T>G uc002tyr.3 + 6 1145 c.578T>G c.(577-579)CTT>CGT p.L193R GALNT13_uc002tyt.3_Missense_Mutation_p.L193R|GALNT13_uc010foc.1_Missense_Mutation_p.L12R NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 193 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CGTGCCCGTCTTCGAGGAGCA 0.423 NA 5 46 0 0 0.000602 0 0 GALNT13 114805 broad.mit.edu 37 2 155099313 155099313 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:155099313G>A uc002tyr.3 + 6 1148 c.581G>A c.(580-582)CGA>CAA p.R194Q GALNT13_uc002tyt.3_Missense_Mutation_p.R194Q|GALNT13_uc010foc.1_Missense_Mutation_p.R13Q NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 194 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GCCCGTCTTCGAGGAGCAGCT 0.423 NA 5 43 0 0 0.000602 0 0 GALNT13 114805 broad.mit.edu 37 2 155158101 155158101 + Silent SNP A A C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:155158101A>C uc002tyr.3 + 9 1722 c.1155A>C c.(1153-1155)CCA>CCC p.P385P GALNT13_uc002tyt.3_Silent_p.P385P|GALNT13_uc010foc.1_Silent_p.P204P|GALNT13_uc010fod.2_Silent_p.P138P NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 385 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TCATATCCCCAGGTACACAAT 0.343 NA 9 109 0 0 0.008291 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555778 155555778 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:155555778T>A uc002tyv.1 + 1 686 c.491T>A c.(490-492)TTC>TAC p.F164Y KCNJ3_uc010zce.1_Missense_Mutation_p.F164Y NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 164 Helical; Name=M2; (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CTCTTCCTCTTCCAGTCCATC 0.577 NA 5 47 0 0 0.001168 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751275 162751275 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:162751275C>T uc002ubx.3 + 11 1465 c.1281C>T c.(1279-1281)CTC>CTT p.L427L SLC4A10_uc010fpa.1_Silent_p.L439L|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.L397L|SLC4A10_uc010zcs.1_Silent_p.L408L NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 427 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 TTACTGTTCTCCCTCCTGGAG 0.363 NA 11 68 0 0 0.001855 0 0 GRB14 2888 broad.mit.edu 37 2 165365354 165365354 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:165365354C>A uc002ucl.2 - 7 1366 c.825G>T c.(823-825)CGG>CGT p.R275R GRB14_uc010zcv.1_Silent_p.R188R|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 275 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 ACTGCAAATGCCGCGGTTCCT 0.323 NA 7 75 0.00198382 0.00223792 0.001984 1 0 SCN3A 6328 broad.mit.edu 37 2 165987815 165987815 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:165987815C>T uc002ucx.2 - 16 2996 c.2504G>A c.(2503-2505)AGT>AAT p.S835N SCN3A_uc002ucy.2_Missense_Mutation_p.S786N|SCN3A_uc002ucz.2_Missense_Mutation_p.S786N|SCN3A_uc002uda.1_Missense_Mutation_p.S655N|SCN3A_uc002udb.1_Missense_Mutation_p.S655N NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 835 Helical; Name=S3 of repeat II; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CTCCATTAAACTGAGGCTGAC 0.393 NA 11 97 0 0 0.008291 0 0 CSRNP3 80034 broad.mit.edu 37 2 166451702 166451702 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:166451702T>C uc002udf.2 + 4 503 c.127T>C c.(127-129)TCC>CCC p.S43P CSRNP3_uc002udg.2_Missense_Mutation_p.S43P NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 43 Ser-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TGTCAATCCATCCACTTCTAG 0.428 NA 13 82 0 0 0.003163 0 0 ABCB11 8647 broad.mit.edu 37 2 169780148 169780148 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:169780148C>G uc002ueo.1 - 28 4076 c.3950G>C c.(3949-3951)GGA>GCA p.G1317A ABCB11_uc010zda.1_Missense_Mutation_p.G735A|ABCB11_uc010zdb.1_Missense_Mutation_p.G793A NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 1317 Cytoplasmic (Potential). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GATGGGGGATCCAGTGGTGAC 0.473 NA 5 34 0 0 0.000602 0 0 LRP2 4036 broad.mit.edu 37 2 170097559 170097559 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:170097559C>A uc002ues.2 - 25 4197 c.3984G>T c.(3982-3984)CTG>CTT p.L1328L LRP2_uc010zdf.1_Silent_p.L1191L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1328 LDL-receptor class A 15.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACACTACACTCAGATTCACAC 0.493 NA 8 61 0.000157383 0.000192065 0.00308 1 0 OSBPL6 114880 broad.mit.edu 37 2 179255873 179255873 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:179255873G>A uc002ulx.2 + 22 2753 c.2375G>A c.(2374-2376)CGG>CAG p.R792Q OSBPL6_uc002uly.2_Missense_Mutation_p.R817Q|OSBPL6_uc010zfe.1_Missense_Mutation_p.R761Q|OSBPL6_uc002ulz.2_Missense_Mutation_p.R756Q|OSBPL6_uc002uma.2_Missense_Mutation_p.R796Q NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 792 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GCGGTGTACCGGCTGTTTGGA 0.507 NA 21 85 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179395788 179395788 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:179395788G>T uc010zfg.1 - 307 98074 c.97850C>A c.(97849-97851)ACC>AAC p.T32617N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26312N|TTN_uc010zfi.1_Missense_Mutation_p.T26245N|TTN_uc010zfj.1_Missense_Mutation_p.T26120N|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33544 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) GATCTCAAAGGTTGATTTGTA 0.493 NA 30 240 3.1745e-13 5.29808e-13 0.008361 1 0 TTN 7273 broad.mit.edu 37 2 179424097 179424097 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:179424097C>A uc010zfg.1 - 275 79282 c.79058G>T c.(79057-79059)GGA>GTA p.G26353V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G20048V|TTN_uc010zfi.1_Missense_Mutation_p.G19981V|TTN_uc010zfj.1_Missense_Mutation_p.G19856V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27280 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) CTCATTTTCTCCAGAGACTCT 0.378 NA 11 186 1.5842e-08 2.29772e-08 0.001855 1 0 TTN 7273 broad.mit.edu 37 2 179427802 179427802 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:179427802A>G uc010zfg.1 - 275 75577 c.75353T>C c.(75352-75354)GTT>GCT p.V25118A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18813A|TTN_uc010zfi.1_Missense_Mutation_p.V18746A|TTN_uc010zfj.1_Missense_Mutation_p.V18621A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26045 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) TGCACGCAGAACGACCACCTT 0.488 NA 20 173 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179640673 179640673 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:179640673G>C uc010zfg.1 - 28 6142 c.5918C>G c.(5917-5919)ACC>AGC p.T1973S TTN_uc010zfh.1_Missense_Mutation_p.T1927S|TTN_uc010zfi.1_Missense_Mutation_p.T1927S|TTN_uc010zfj.1_Missense_Mutation_p.T1927S|TTN_uc002unb.2_Missense_Mutation_p.T1973S|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1973 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) AACTTCTTTGGTTTCAGTGGT 0.443 NA 20 210 0 0 0.002299 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187698752 187698752 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:187698752G>C uc002upu.1 - 6 789 c.749C>G c.(748-750)ACC>AGC p.T250S NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 250 ZZ-type. apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TATGCATTCGGTACACCTAAA 0.368 NA 4 32 0 0 0.009096 0 0 TMEFF2 23671 broad.mit.edu 37 2 192863879 192863879 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:192863879C>A uc002utc.2 - 6 986 c.592G>T c.(592-594)GAT>TAT p.D198Y NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 198 Kazal-like 2.|Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) GATTTCCCATCAGAAGCGCAG 0.368 Pancreas(50;1277 1381 28487 47072) NA 5 115 0.000602214 0.000706611 0.000602 1 0 SGOL2 151246 broad.mit.edu 37 2 201436413 201436413 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:201436413C>T uc002uvw.2 + 7 1457 c.1344C>T c.(1342-1344)CCC>CCT p.P448P SGOL2_uc010zhd.1_Silent_p.P448P|SGOL2_uc010zhe.1_Silent_p.P448P NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 448 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 CAGAAGATCCCGGTTTTATTT 0.403 NA 15 141 0 0 0.003163 0 0 MDH1B 130752 broad.mit.edu 37 2 207619756 207619756 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:207619756C>A uc002vbs.2 - 5 942 c.887G>T c.(886-888)AGA>ATA p.R296I MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.R296I|MDH1B_uc010fuj.2_Missense_Mutation_p.R198I|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 296 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CTTCAGTTTTCTGGCCAGTAT 0.428 Pancreas(76;29 1355 28675 37177 51207) NA 9 75 1.76689e-08 2.55257e-08 0.006214 1 0 CRYGA 1418 broad.mit.edu 37 2 209025704 209025704 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:209025704G>C uc002vcq.3 - 3 366 c.349C>G c.(349-351)CGT>GGT p.R117G NM_014617 NP_055432 P11844 CRGA_HUMAN crystallin, gamma A 117 Beta/gamma crystallin 'Greek key' 3. visual perception structural constituent of eye lens 0 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) TCAGGGAGACGGAACAGTTCT 0.562 NA 6 48 0 0 0.001168 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209169637 209169637 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:209169637C>T uc002vcz.2 + 12 1694 c.1536C>T c.(1534-1536)GCC>GCT p.A512A PIKFYVE_uc010fun.1_Silent_p.A193A|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Silent_p.A415A|PIKFYVE_uc002vcw.2_Silent_p.A512A|PIKFYVE_uc002vcx.2_Silent_p.A426A NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 512 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 GTGACTCAGCCGCTTCTATCA 0.512 NA 8 80 0 0 0.004482 0 0 PTH2R 5746 broad.mit.edu 37 2 209315480 209315480 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:209315480C>A uc002vdb.2 + 8 1073 c.860C>A c.(859-861)CCA>CAA p.P287Q PTH2R_uc010zjb.1_Missense_Mutation_p.P298Q NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 287 Helical; Name=4; (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TCAGGGTTTCCAGCAGCATTT 0.408 NA 13 78 0.00010058 0.000124406 0.001368 1 0 NHEJ1 79840 broad.mit.edu 37 2 219942058 219942058 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:219942058G>T uc002vjp.3 - 7 881 c.735C>A c.(733-735)TCC>TCA p.S245S NHEJ1_uc002vjq.3_RNA NM_024782 NP_079058 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 245 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding lung(1) 1 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) TTCCTTGCAGGGAAGCACTGT 0.463 NA Direct_reversal_of_damage|NHEJ 6 70 0.00198382 0.00223792 0.001984 1 0 COL6A3 1293 broad.mit.edu 37 2 238285757 238285757 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:238285757T>C uc002vwl.2 - 7 3013 c.2728A>G c.(2728-2730)ACG>GCG p.T910A COL6A3_uc002vwo.2_Missense_Mutation_p.T704A|COL6A3_uc010znj.1_Missense_Mutation_p.T303A|COL6A3_uc002vwq.2_Missense_Mutation_p.T704A|COL6A3_uc002vwr.2_Missense_Mutation_p.T503A|COL6A3_uc010znk.1_Missense_Mutation_p.T710A NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 910 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCTTTGCCCGTCTTGATCTTC 0.517 NA 8 53 0 0 0.00308 0 0 HDAC4 9759 broad.mit.edu 37 2 240085557 240085557 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:240085557C>A uc002vyk.3 - 6 1345 c.553G>T c.(553-555)GCG>TCG p.A185S HDAC4_uc010fyz.1_Missense_Mutation_p.A180S|HDAC4_uc010zoa.1_Missense_Mutation_p.A180S|HDAC4_uc010fza.2_Missense_Mutation_p.A185S|HDAC4_uc010fyy.2_Missense_Mutation_p.A137S|HDAC4_uc010znz.1_Missense_Mutation_p.A68S NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 185 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TGGGCCAGCGCCTTCTTTTTA 0.572 NA 22 86 1.28384e-07 1.78759e-07 0.001882 1 0 PLCB4 5332 broad.mit.edu 37 20 9459604 9459604 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:9459604G>C uc002wnf.2 + 37 3632 c.3496G>C c.(3496-3498)GAG>CAG p.E1166Q PLCB4_uc010gbx.2_Missense_Mutation_p.E1178Q|PLCB4_uc002wne.2_Missense_Mutation_p.R1178P|PLCB4_uc002wnh.2_Missense_Mutation_p.E1013Q NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 1166 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 ATTGGAAGCCGAGATGGACCG 0.443 NA 5 19 0 0 0.001168 0 0 PAK7 57144 broad.mit.edu 37 20 9624939 9624939 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:9624939C>A uc002wnl.2 - 4 583 c.38G>T c.(37-39)GGC>GTC p.G13V PAK7_uc002wnk.2_Missense_Mutation_p.G13V|PAK7_uc002wnj.2_Missense_Mutation_p.G13V|PAK7_uc010gby.1_Missense_Mutation_p.G13V NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 13 CRIB. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GTTGGACGGGCCAGATATTTC 0.448 NA 12 59 9.31168e-06 1.23089e-05 0.001855 1 0 TPX2 22974 broad.mit.edu 37 20 30366632 30366632 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:30366632G>T uc002wwp.1 + 10 1597 c.899G>T c.(898-900)GGA>GTA p.G300V TPX2_uc010gdv.1_Missense_Mutation_p.G300V NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 300 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) GTGACTAAGGGATGTACCATT 0.433 NA 15 148 2.35188e-11 3.7952e-11 0.006122 1 0 CBFA2T2 9139 broad.mit.edu 37 20 32162056 32162056 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:32162056G>T uc002wzg.1 + 2 587 c.50G>T c.(49-51)AGG>ATG p.R17M CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Intron|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Intron|CBFA2T2_uc002wzi.1_RNA NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 17 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 GTCCTGGCAAGGCAATGGAAA 0.338 Esophageal Squamous(174;142 1955 14837 21276 28041) NA 24 75 3.28513e-13 5.44541e-13 0.003954 1 0 CBFA2T2 9139 broad.mit.edu 37 20 32210932 32210932 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:32210932C>T uc002wzg.1 + 6 1086 c.549C>T c.(547-549)CCC>CCT p.P183P CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Silent_p.P174P|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.P154P|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 183 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 CCAACCTGCCCCTGCTGCAGC 0.557 Esophageal Squamous(174;142 1955 14837 21276 28041) NA 4 33 0 0 0.000602 0 0 RPN2 6185 broad.mit.edu 37 20 35826893 35826893 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:35826893G>T uc002xgp.2 + 3 605 c.301G>T c.(301-303)GAG>TAG p.E101* RPN2_uc002xgo.3_Nonsense_Mutation_p.E101*|RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.2_Intron NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 101 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CTCAGGATGTGAGGTGAGTCC 0.443 NA 5 63 0.000157383 0.000192065 0.00308 1 0 CHD6 84181 broad.mit.edu 37 20 40045883 40045883 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:40045883C>G uc002xka.1 - 32 6412 c.6234G>C c.(6232-6234)CAG>CAC p.Q2078H CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2078 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CCTGTAGCAGCTGAGCAATAG 0.527 NA 8 91 0 0 0.00308 0 0 STK4 6789 broad.mit.edu 37 20 43623806 43623806 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:43623806T>C uc002xnb.2 + 6 691 c.601T>C c.(601-603)TAC>CAC p.Y201H STK4_uc010ggx.2_Missense_Mutation_p.Y201H|STK4_uc010ggy.2_Missense_Mutation_p.Y146H|STK4_uc010ggw.1_Missense_Mutation_p.Y201H NM_006282 NP_006273 Q13043 STK4_HUMAN serine/threonine kinase 4 201 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding ovary(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) GGAAATTGGATACAACTGTGT 0.448 GBM(187;1039 2137 11798 21916 33213) NA 10 110 0 0 0.006214 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47604875 47604875 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr20:47604875G>T uc002xtx.3 + 17 2463 c.2311G>T c.(2311-2313)GTC>TTC p.V771F ARFGEF2_uc010zyf.1_Missense_Mutation_p.V64F NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 771 SEC7. exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CACTGCTTATGTCCTAGCGTA 0.383 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 7 45 1.12685e-05 1.47621e-05 0.004482 1 0 TPTE 7179 broad.mit.edu 37 21 10969090 10969090 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr21:10969090G>T uc002yip.1 - 7 526 c.158C>A c.(157-159)TCA>TAA p.S53* TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 53 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTGATAGGTGACACCCGGGC 0.338 NA 12 233 2.61681e-11 4.18576e-11 0.00245 1 0 BAGE2 85319 broad.mit.edu 37 21 11098714 11098714 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr21:11098714C>A uc002yit.1 - 1 212 c.4G>T c.(4-6)GCG>TCG p.A2S BAGE_uc002yix.2_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) actccagccgccatcttactg 0 NA 8 60 0.000274275 0.00032922 0.004482 1 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744512 31744512 + Missense_Mutation SNP G G T rs143324515 byFrequency TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr21:31744512G>T uc002ynz.3 - 1 46 c.20C>A c.(19-21)TCT>TAT p.S7Y NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 7 intermediate filament 0 GAAGTTTCCAGAGCAGCAGTT 0.502 NA 14 87 1.99824e-07 2.77702e-07 0.00499 1 0 SON 6651 broad.mit.edu 37 21 34923232 34923232 + Silent SNP G G T rs146602176 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr21:34923232G>T uc002yse.1 + 3 1744 c.1695G>T c.(1693-1695)TCG>TCT p.S565S SON_uc002ysb.1_Silent_p.S565S|SON_uc002ysc.2_Silent_p.S565S|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 565 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GGCAGCCTTCGGTGACTGGGG 0.657 NA 9 30 0.00448238 0.00496458 0.004482 1 0 PATZ1 23598 broad.mit.edu 37 22 31740992 31740992 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr22:31740992G>A uc003akq.2 - 1 1258 c.597C>T c.(595-597)AGC>AGT p.S199S PATZ1_uc003akp.2_Silent_p.S199S|PATZ1_uc003akr.2_Silent_p.S199S|PATZ1_uc003aks.2_Silent_p.S199S|uc003akt.2_5'Flank NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 199 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 CGATGCCATTGCTGTTGGCTG 0.647 NA 17 27 0 0 0.004007 0 0 SOX10 6663 broad.mit.edu 37 22 38369875 38369876 + Missense_Mutation DNP GG GG TT TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr22:38369875_38369876GG>TT uc003aun.1 - 4 1305_1306 c.1027_1028CC>AA c.(1027-1029)CCC>AAC p.P343N POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P343N NM_006941 NP_008872 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 343 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity 0 Melanoma(58;0.045) TGAGACCGTGGGCAGAGCCACG 0.668 Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275) NA 7 25 0 0 0.004672 0 0 SBF1 6305 broad.mit.edu 37 22 50902833 50902833 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr22:50902833G>A uc003blh.2 - 15 1869 c.1674C>T c.(1672-1674)AAC>AAT p.N558N SBF1_uc011arx.1_Silent_p.N222N|SBF1_uc003bli.2_Silent_p.N559N NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 558 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GCCGGGCGCTGTTGACATGCA 0.637 NA 9 22 0 0 0.004482 0 0 CNTN4 152330 broad.mit.edu 37 3 2924927 2924927 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:2924927G>T uc003bpc.2 + 8 972 c.751G>T c.(751-753)GGA>TGA p.G251* CNTN4_uc003bpb.1_Intron|CNTN4_uc003bpd.1_Nonsense_Mutation_p.G251* NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 251 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CTTTGCTTTAGGAAAGTAAGT 0.463 NA 4 26 0.00024832 0.000299541 0.009096 1 0 IL17RE 132014 broad.mit.edu 37 3 9952837 9952838 + Missense_Mutation DNP GC GC AT TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:9952837_9952838GC>AT uc003btu.2 + 11 1122_1123 c.1005_1006GC>AT c.(1003-1008)CTGCAC>CTATAC p.H336Y CIDEC_uc003bto.2_Intron|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.H336Y|IL17RE_uc003btx.2_Missense_Mutation_p.H220Y|IL17RE_uc010hcq.2_Missense_Mutation_p.H336Y|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 336 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) AGGTGGACCTGCACCCCCAGCT 0.54 NA 16 141 0 0 0.004672 0 0 SH3BP5 9467 broad.mit.edu 37 3 15311335 15311335 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:15311335T>A uc003bzp.1 - 4 569 c.380A>T c.(379-381)GAG>GTG p.E127V SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_5'UTR|SH3BP5_uc003bzr.1_5'UTR NM_004844 NP_004835 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 127 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding 0 ACGGAGCACCTCTGTGGCCCT 0.612 NA 27 123 0 0 0.003271 0 0 GADL1 339896 broad.mit.edu 37 3 30880603 30880603 + Silent SNP C C A rs148436135 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:30880603C>A uc003cep.2 - 9 836 c.789G>T c.(787-789)GGG>GGT p.G263G GADL1_uc003ceq.1_Silent_p.G263G NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 263 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) ACGGTGCTGCCCCCTGTAAGA 0.448 NA 13 54 1.5842e-08 2.29772e-08 0.001855 1 0 MLH1 4292 broad.mit.edu 37 3 37038135 37038135 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:37038135C>G uc003cgl.2 + 2 202 c.142C>G c.(142-144)CAA>GAA p.Q48E MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_Intron|MLH1_uc010hge.2_Missense_Mutation_p.Q48E|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_5'UTR|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 48 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 CACAAGTATTCAAGTGATTGT 0.378 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 8 55 0 0 0.00308 0 0 SCN10A 6336 broad.mit.edu 37 3 38760296 38760296 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:38760296C>A uc003ciq.2 - 20 3529 c.3529G>T c.(3529-3531)GAC>TAC p.D1177Y NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1177 III. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGCTTCTGGTCCAGGTAATAG 0.532 NA 10 25 2.17888e-05 2.81406e-05 0.006214 1 0 SCN11A 11280 broad.mit.edu 37 3 38936142 38936142 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:38936142G>T uc011ays.1 - 15 2916 c.2717C>A c.(2716-2718)ACC>AAC p.T906N SCN11A_uc010hhn.1_Missense_Mutation_p.T22N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 906 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GACGCCCAGGGTCTTTGGTAC 0.502 NA 15 107 6.31663e-08 8.93125e-08 0.003163 1 0 RPL14 9045 broad.mit.edu 37 3 40503438 40503438 + Silent SNP A A G rs145518013 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:40503438A>G uc003ckg.2 + 6 414 c.363A>G c.(361-363)AGA>AGG p.R121R RPL14_uc003ckh.2_Silent_p.R121R|RPL14_uc003cki.2_Silent_p.R72R NM_003973 NP_003964 P50914 RL14_HUMAN ribosomal protein L14 121 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGAGGAACAGAATAATCAAGA 0.318 NA 3 32 0 0 0.004672 0 0 MST1R 4486 broad.mit.edu 37 3 49928939 49928939 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:49928939C>T uc003cxy.3 - 16 3691 c.3427G>A c.(3427-3429)GTG>ATG p.V1143M MST1R_uc011bdc.1_Missense_Mutation_p.V22M NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1143 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AGAGCCAGCACATTCGGGTGG 0.607 NA 16 51 0 0 0.007413 0 0 NEK4 6787 broad.mit.edu 37 3 52802407 52802407 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:52802407G>A uc003dfq.3 - 2 496 c.307C>T c.(307-309)CTG>TTG p.L103L NEK4_uc011bej.1_Intron|NEK4_uc003dfr.2_Silent_p.L103L NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 103 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TTCTCAGGCAGAAGCTGCCCT 0.498 NA 18 212 0 0 0.007413 0 0 FAM86D 692099 broad.mit.edu 37 3 75476723 75476723 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:75476723C>A uc003dpp.3 - 6 701 c.342G>T c.(340-342)GGG>GGT p.G114G FAM86D_uc003dpo.3_Intron|FAM86D_uc003dps.3_Intron|FAM86D_uc003dpq.3_Silent_p.G22G|FAM86D_uc003dpr.3_Intron NR_024241 RecName: Full=Protein FAM86B1; 0 GAAGGACATTCCCTCGGAGCT 0.612 NA 5 39 1.12685e-05 1.47621e-05 0.004482 1 0 EPHA3 2042 broad.mit.edu 37 3 89390204 89390204 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:89390204C>A uc003dqy.2 + 4 1178 c.953C>A c.(952-954)CCA>CAA p.P318Q EPHA3_uc003dqx.1_Missense_Mutation_p.P318Q|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 318 Extracellular (Potential).|Cys-rich. 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) AAAGACCCTCCATCCATGGCT 0.443 NA TSP Lung(6;0.00050) 18 137 5.03518e-11 8.019e-11 0.007413 1 0 EPHA3 2042 broad.mit.edu 37 3 89391113 89391113 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:89391113G>T uc003dqy.2 + 5 1404 c.1179G>T c.(1177-1179)ACG>ACT p.T393T EPHA3_uc003dqx.1_Silent_p.T393T|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 393 Extracellular (Potential).|Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding p.T393K(1) 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) CCAACACCACGGTGACAGTGA 0.483 NA TSP Lung(6;0.00050) 16 46 6.31663e-08 8.93125e-08 0.003163 1 0 CPOX 1371 broad.mit.edu 37 3 98299562 98299563 + Nonsense_Mutation DNP CC CC AA TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:98299562_98299563CC>AA uc003dsx.2 - 7 1422_1423 c.1329_1330GG>TT c.(1327-1332)CTGGAA>CTTTAA p.E444* NM_000097 NP_000088 P36551 HEM6_HUMAN coproporphyrinogen oxidase precursor 444 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity 0 CGTAGAACTTCCAGAATTTCAG 0.485 Esophageal Squamous(75;7 1223 22300 43648 48951) NA 3 43 0 0 0.004672 0 0 POLQ 10721 broad.mit.edu 37 3 121208671 121208671 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:121208671C>T uc003eee.3 - 16 3236 c.3107G>A c.(3106-3108)AGC>AAC p.S1036N POLQ_uc003eed.2_Missense_Mutation_p.S208N NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1036 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAAACTTCTGCTCATCTTTTC 0.408 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 5 77 0 0 0.000602 0 0 GOLGB1 2804 broad.mit.edu 37 3 121411320 121411320 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:121411320C>A uc003eei.3 - 14 7002 c.6876G>T c.(6874-6876)CAG>CAT p.Q2292H GOLGB1_uc010hrc.2_Missense_Mutation_p.Q2297H|GOLGB1_uc003eej.3_Missense_Mutation_p.Q2258H NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2292 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCTCTTCTAGCTGGGACAAAA 0.443 NA 15 88 1.15088e-07 1.60552e-07 0.004007 1 0 CASR 846 broad.mit.edu 37 3 121980463 121980463 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:121980463C>T uc003eev.3 + 4 953 c.581C>T c.(580-582)GCC>GTC p.A194V CASR_uc003eew.3_Missense_Mutation_p.A194V NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 194 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GAGCACCAGGCCACTGCCATG 0.532 NA 51 109 0 0 0.00361 0 0 PARP14 54625 broad.mit.edu 37 3 122432421 122432421 + Splice_Site SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:122432421G>T uc003efq.3 + 10 3828 c.3769_splice c.e10+1 p.G1257_splice PARP14_uc010hrk.2_Splice_Site|PARP14_uc003efr.2_Splice_Site_p.G974_splice|PARP14_uc003efs.1_Splice_Site_p.G974_splice NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) CTCAAAGCAGGTACTTGTACA 0.373 NA 17 40 7.21436e-19 1.27077e-18 0.008871 1 0 KALRN 8997 broad.mit.edu 37 3 124066000 124066000 + Nonsense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:124066000G>A uc003ehg.2 + 10 1779 c.1652G>A c.(1651-1653)TGG>TAG p.W551* KALRN_uc010hrv.1_Nonsense_Mutation_p.W551*|KALRN_uc003ehf.1_Nonsense_Mutation_p.W551*|KALRN_uc011bjy.1_Nonsense_Mutation_p.W551* NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 551 Spectrin 3. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GTGTTGGACTGGATTGAAAAC 0.488 NA 45 142 0 0 0.00361 0 0 ACPP 55 broad.mit.edu 37 3 132063770 132063770 + Splice_Site SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:132063770G>C uc010htp.2 + 7 739 c.649_splice c.e7-1 p.S217_splice ACPP_uc003eon.3_Splice_Site_p.S184_splice|ACPP_uc003eop.3_Splice_Site_p.S217_splice NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 CTTTGCTACAGAGTGTTCACA 0.413 NA 5 75 0 0 0.001168 0 0 COPB2 9276 broad.mit.edu 37 3 139096978 139096978 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:139096978C>G uc003etf.3 - 5 539 c.409G>C c.(409-411)GTG>CTG p.V137L COPB2_uc011bmv.1_Missense_Mutation_p.V108L|COPB2_uc010hui.2_Missense_Mutation_p.V108L|COPB2_uc011bmw.1_Missense_Mutation_p.V137L NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 137 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 CCTTCAAACACTTGTGAGCAA 0.398 NA 61 177 0 0 0.00361 0 0 TRIM42 287015 broad.mit.edu 37 3 140406835 140406835 + Silent SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:140406835T>C uc003eto.1 + 3 1502 c.1311T>C c.(1309-1311)ACT>ACC p.T437T NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 437 COS. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 TGAAGGAGACTGGCCAGGTGG 0.537 NA 11 25 0 0 0.008291 0 0 P2RY12 64805 broad.mit.edu 37 3 151055929 151055929 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:151055929G>A uc003eyw.1 - 2 921 c.705C>T c.(703-705)AAC>AAT p.N235N MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Silent_p.N235N NM_176876 NP_795345 Q9H244 P2Y12_HUMAN purinergic receptor P2Y12 235 Helical; Name=6; (Potential). platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) AAACTTTGACGTTCACCTTTT 0.388 NA 12 55 0 0 0.001368 0 0 MED12L 116931 broad.mit.edu 37 3 151102898 151102898 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:151102898C>T uc003eyp.2 + 34 4940 c.4902C>T c.(4900-4902)GTC>GTT p.V1634V MED12L_uc011bnz.1_Silent_p.V1494V|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Silent_p.V797V NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1634 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) CATGTGATGTCATCACTTGTG 0.368 NA 19 158 0 0 0.010504 0 0 GPR149 344758 broad.mit.edu 37 3 154055989 154055989 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:154055989C>T uc003faa.2 - 4 1795 c.1695G>A c.(1693-1695)GGG>GGA p.G565G NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 565 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ATAGGGTTTTCCCTGTAGGTG 0.453 NA 29 181 0 0 0.009535 0 0 EIF4A2 1974 broad.mit.edu 37 3 186504993 186504993 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:186504993G>T uc003fqs.2 + 8 888 c.849G>T c.(847-849)AGG>AGT p.R283S EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.R284S|EIF4A2_uc003fqv.2_Missense_Mutation_p.R188S|EIF4A2_uc003fqw.2_Missense_Mutation_p.R188S|EIF4A2_uc011bsb.1_Missense_Mutation_p.R156S|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 283 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) TCAATACGAGGCGCAAGGTGG 0.423 NA T BCL6 NHL 39 99 3.66082e-28 6.67346e-28 0.005524 1 0 CRIPAK 285464 broad.mit.edu 37 4 1389358 1389358 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:1389358G>T uc003gdf.2 + 1 4019 c.1059G>T c.(1057-1059)CTG>CTT p.L353L NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 353 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGCCCGCCTGCTCACACGTG 0.662 NA 26 151 1.39806e-14 2.37669e-14 0.008361 1 0 SLIT2 9353 broad.mit.edu 37 4 20619120 20619120 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:20619120G>A uc003gpr.1 + 36 4399 c.4195G>A c.(4195-4197)GAG>AAG p.E1399K SLIT2_uc003gps.1_Missense_Mutation_p.E1391K NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1399 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TAAGTGCTTGGAGGGCCATGG 0.537 NA 7 35 0 0 0.004482 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23816048 23816048 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:23816048T>A uc003gqs.2 - 8 1178 c.1058A>T c.(1057-1059)GAG>GTG p.E353V PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 353 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) TGCATACAACTCGGATTGCTC 0.532 Esophageal Squamous(29;694 744 13796 34866 44181) NA 21 139 0 0 0.001882 0 0 STIM2 57620 broad.mit.edu 37 4 27019384 27019384 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:27019384G>T uc003gsh.3 + 12 2042 c.1826G>T c.(1825-1827)CGT>CTT p.R609L STIM2_uc003gsg.3_Missense_Mutation_p.R601L|STIM2_uc010iex.2_Missense_Mutation_p.R601L|STIM2_uc010iey.2_Missense_Mutation_p.R225L NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 514 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) AGCCTGTGCCGTTCACGCCGC 0.597 NA 26 147 4.59853e-10 7.03248e-10 0.005443 1 0 TLR10 81793 broad.mit.edu 37 4 38777210 38777210 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:38777210A>G uc003gti.2 - 2 381 c.2T>C c.(1-3)ATG>ACG p.M1T TLR10_uc003gtj.2_Missense_Mutation_p.M1T|TLR10_uc003gtk.2_Missense_Mutation_p.M1T NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 1 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 GATGAGTCTCATTGTATTTCC 0.343 NA 10 33 0 0 0.006214 0 0 FRYL 285527 broad.mit.edu 37 4 48512111 48512111 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:48512111C>T uc003gyh.1 - 59 8964 c.8359G>A c.(8359-8361)GAT>AAT p.D2787N FRYL_uc003gyf.1_Missense_Mutation_p.D183N|FRYL_uc003gyg.1_Missense_Mutation_p.D1483N NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2787 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TTGTATGTATCCAGGTGTTCT 0.438 NA 7 49 0 0 0.00308 0 0 LPHN3 23284 broad.mit.edu 37 4 62862036 62862036 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:62862036C>T uc010ihh.2 + 17 3233 c.3060C>T c.(3058-3060)TTC>TTT p.F1020F LPHN3_uc003hcq.3_Silent_p.F1020F|LPHN3_uc003hct.2_Silent_p.F413F NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1007 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ACACCTACTTCATTTGGAGTT 0.393 NA 16 129 0 0 0.00499 0 0 LPHN3 23284 broad.mit.edu 37 4 62894601 62894601 + Splice_Site SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:62894601T>A uc010ihh.2 + 19 3391 c.3218_splice c.e19+2 p.K1073_splice LPHN3_uc003hcq.3_Splice_Site_p.K1073_splice|LPHN3_uc003hct.2_Intron NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CTTCATCAAGTAAGAATGACC 0.358 NA 3 17 0 0 0.004672 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795752 69795752 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:69795752G>T uc003hef.2 - 6 1394 c.1363C>A c.(1363-1365)CTA>ATA p.L455I UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 455 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 GCTCGATCTAGGGGCTTTACA 0.453 NA 16 94 2.48551e-13 4.16721e-13 0.00499 1 0 UGT2A3 79799 broad.mit.edu 37 4 69817245 69817245 + Silent SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:69817245A>G uc003hef.2 - 1 265 c.234T>C c.(232-234)CAT>CAC p.H78H UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 78 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 CCTGTGGCATATGGACCACCT 0.403 NA 10 76 0 0 0.006214 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152549 70152549 + Missense_Mutation SNP C C A rs144043239 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:70152549C>A uc003hej.2 + 3 952 c.950C>A c.(949-951)ACA>AAA p.T317K UGT2B28_uc010ihr.2_Missense_Mutation_p.T317K NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 317 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) AGTAACATGACAGCAGAAAGG 0.418 NA 12 101 9.31168e-06 1.23089e-05 0.001855 1 0 PROL1 58503 broad.mit.edu 37 4 71275358 71275358 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:71275358C>A uc003hfi.2 + 3 487 c.313C>A c.(313-315)CTA>ATA p.L105I NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 105 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) TTATCCAAACCTACATTTCCC 0.388 NA 35 206 4.10981e-09 6.10625e-09 0.005524 1 0 ANKRD17 26057 broad.mit.edu 37 4 73984548 73984548 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:73984548G>A uc003hgp.2 - 22 4162 c.4045C>T c.(4045-4047)CGT>TGT p.R1349C ANKRD17_uc003hgo.2_Missense_Mutation_p.R1236C|ANKRD17_uc003hgq.2_Missense_Mutation_p.R1098C|ANKRD17_uc003hgr.2_Missense_Mutation_p.R1348C|ANKRD17_uc011cbd.1_Missense_Mutation_p.R914C NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1349 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCTTGTTACGTACATCAATA 0.358 NA 17 114 0 0 0.007413 0 0 STBD1 8987 broad.mit.edu 37 4 77231140 77231140 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:77231140G>T uc003hka.2 + 2 1310 c.1064G>T c.(1063-1065)TGG>TTG p.W355L STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Missense_Mutation_p.W206L NM_003943 NP_003934 O95210 STBD1_HUMAN starch binding domain 1 355 CBM20.|Cytoplasmic (Potential). carbohydrate metabolic process|muscle contraction integral to plasma membrane|membrane fraction carbohydrate binding|catalytic activity|protein binding ovary(1) 1 Lung(101;0.196) CACGCATGGTGGGGGATTCAC 0.448 NA 17 81 1.33834e-09 2.02552e-09 0.007413 1 0 HELQ 113510 broad.mit.edu 37 4 84374799 84374799 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:84374799C>A uc003hom.2 - 2 776 c.597G>T c.(595-597)CAG>CAT p.Q199H HELQ_uc010ikb.2_Missense_Mutation_p.Q199H|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.Q93H|HELQ_uc003hoo.1_Missense_Mutation_p.Q162H|HELQ_uc003hop.1_Missense_Mutation_p.Q93H|HELQ_uc003hoq.1_Missense_Mutation_p.Q199H|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 199 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 AGTATATAGCCTGTGAGGAAG 0.388 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 41 130 7.53189e-24 1.35611e-23 0.007835 1 0 ABCG2 9429 broad.mit.edu 37 4 89018658 89018658 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:89018658T>A uc003hrg.2 - 13 2087 c.1594A>T c.(1594-1596)AGT>TGT p.S532C ABCG2_uc003hrh.2_Missense_Mutation_p.S532C|ABCG2_uc003hrf.2_Missense_Mutation_p.S400C NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 532 ABC transmembrane type-2.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) GAAACCACACTCTGACCTGCT 0.428 NA 15 48 0 0 0.00499 0 0 ADH6 130 broad.mit.edu 37 4 100131611 100131611 + Missense_Mutation SNP G G T rs148378840 byFrequency TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:100131611G>T uc003hup.3 - 4 405 c.311C>A c.(310-312)TCT>TAT p.S104Y uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.S104Y|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Missense_Mutation_p.S104Y NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 104 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) ATTCAGGCAAGAGGTACATTC 0.299 NA 14 110 2.23348e-06 3.02909e-06 0.004007 1 0 AGXT2L1 64850 broad.mit.edu 37 4 109664984 109664984 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:109664984G>T uc003hzc.2 - 12 1513 c.1332C>A c.(1330-1332)ACC>ACA p.T444T AGXT2L1_uc010imc.2_Silent_p.T438T|AGXT2L1_uc011cfm.1_Silent_p.T404T|AGXT2L1_uc011cfn.1_Silent_p.T371T|AGXT2L1_uc011cfo.1_Silent_p.T386T NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 444 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TCACACTTTCGGTTTTGGTTC 0.328 NA 18 73 3.62473e-10 5.59004e-10 0.001882 1 0 NEUROG2 63973 broad.mit.edu 37 4 113436287 113436287 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:113436287C>A uc003ias.2 - 2 672 c.345G>T c.(343-345)CTG>CTT p.L115L NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN neurogenin 2 115 Helix-loop-helix motif. positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding skin(2)|central_nervous_system(1) 3 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) TGTTGGCCTTCAGTCTACGGG 0.667 NA 13 26 7.03913e-09 1.03118e-08 0.001368 1 0 ANK2 287 broad.mit.edu 37 4 114275674 114275674 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:114275674G>C uc003ibe.3 + 38 6000 c.5900G>C c.(5899-5901)GGC>GCC p.G1967A ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.G1982A NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1934 Repeat-rich region.|Repeat A. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCACCTTCTGGCAAAACAGAA 0.498 NA 19 101 0 0 0.006122 0 0 TMEM155 132332 broad.mit.edu 37 4 122682991 122682991 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:122682991G>T uc003idx.1 - 4 607 c.48C>A c.(46-48)TCC>TCA p.S16S TMEM155_uc003idy.1_Silent_p.S16S NM_152399 NP_689612 Q4W5P6 TM155_HUMAN transmembrane protein 155 precursor 16 extracellular region 0 TTACAAGTTTGGAAATTAGTG 0.333 NA 15 34 9.16793e-09 1.33768e-08 0.00499 1 0 PCDH18 54510 broad.mit.edu 37 4 138451195 138451195 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:138451195A>T uc003ihe.3 - 1 2435 c.2048T>A c.(2047-2049)GTG>GAG p.V683E PCDH18_uc003ihf.3_Missense_Mutation_p.V676E|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.V463E|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 683 Cadherin 6.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TGTACTTGTCACCGACTCTGC 0.418 NA 61 146 0 0 0.00361 0 0 INPP4B 8821 broad.mit.edu 37 4 143081565 143081565 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:143081565C>T uc003iix.3 - 18 2104 c.1509G>A c.(1507-1509)GTG>GTA p.V503V INPP4B_uc003iiw.3_Silent_p.V503V|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.V318V|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.V374V NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 503 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) GCCCTCTCATCACTGGGGGTT 0.498 NA 20 121 0 0 0.010504 0 0 FBXW7 55294 broad.mit.edu 37 4 153253847 153253847 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:153253847G>A uc003ims.2 - 6 1035 c.886C>T c.(886-888)CTG>TTG p.L296L FBXW7_uc011cii.1_Silent_p.L296L|FBXW7_uc003imt.2_Silent_p.L296L|FBXW7_uc011cih.1_Silent_p.L120L|FBXW7_uc003imq.2_Silent_p.L216L|FBXW7_uc003imr.2_Silent_p.L178L NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 296 F-box. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTGGGTTCCAGGAATGAAAGC 0.348 NA Mis|N|D|F colorectal|endometrial|T-ALL 6 57 0 0 0.001168 0 0 GRIA2 2891 broad.mit.edu 37 4 158142240 158142240 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:158142240T>A uc003ipm.3 + 1 505 c.46T>A c.(46-48)TGG>AGG p.W16R GRIA2_uc011cit.1_Intron|GRIA2_uc003ipl.3_Missense_Mutation_p.W16R|GRIA2_uc003ipk.3_Intron|GRIA2_uc010iqh.1_5'Flank NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 16 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TCCTGTTTTATGGGGACTGAT 0.368 NA 25 194 0 0 0.005443 0 0 NPY5R 4889 broad.mit.edu 37 4 164271912 164271912 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:164271912G>T uc003iqn.2 + 4 669 c.487G>T c.(487-489)GTC>TTC p.V163F NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 163 Helical; Name=4; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) GATAGCTACTGTCTGGACACT 0.378 Melanoma(139;1287 1774 9781 19750 25599) NA 78 220 6.16549e-39 1.13812e-38 0.00361 1 0 TKTL2 84076 broad.mit.edu 37 4 164394505 164394505 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:164394505G>C uc003iqp.3 - 1 543 c.382C>G c.(382-384)CAG>GAG p.Q128E NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 128 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCTAATCCCTGACCTAGGGAC 0.527 NA 9 53 0 0 0.004482 0 0 ANP32C 23520 broad.mit.edu 37 4 165118545 165118545 + Nonsense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:165118545G>A uc011cjk.1 - 1 319 c.319C>T c.(319-321)CAG>TAG p.Q107* MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 107 LRR 3. 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) TTTTCTAACTGTTTCAGTGGC 0.433 NA 22 146 0 0 0.00278 0 0 ODZ3 55714 broad.mit.edu 37 4 183522218 183522218 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:183522218C>A uc003ivd.1 + 3 690 c.653C>A c.(652-654)CCG>CAG p.P218Q NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 218 Cytoplasmic (Potential).|Teneurin N-terminal. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGTCCGGCCCCGCCGGCTGCT 0.572 NA 13 84 1.5842e-08 2.29772e-08 0.001855 1 0 FAT1 2195 broad.mit.edu 37 4 187558005 187558005 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:187558005G>A uc003izf.2 - 5 3894 c.3706C>T c.(3706-3708)CTT>TTT p.L1236F NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1236 Extracellular (Potential).|Cadherin 10. 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 TTTTCATCAAGGATTTTCACA 0.398 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 33 253 0 0 0.002445 0 0 TRIML2 205860 broad.mit.edu 37 4 189026059 189026059 + Missense_Mutation SNP A A C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:189026059A>C uc003izl.2 - 2 103 c.67T>G c.(67-69)TCG>GCG p.S23A TRIML2_uc011cle.1_Missense_Mutation_p.S73A|TRIML2_uc011clf.1_Missense_Mutation_p.S73A NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 23 Potential. 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) TTCTCCCTCGATGTGTTCAAT 0.408 NA 10 98 0 0 0.008291 0 0 ADCY2 108 broad.mit.edu 37 5 7773210 7773210 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:7773210G>A uc003jdz.1 + 18 2447 c.2380G>A c.(2380-2382)GAG>AAG p.E794K ADCY2_uc011cmo.1_Missense_Mutation_p.E614K NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 794 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGTCTTATTTGAGAGGTGAGC 0.507 NA 4 72 0 0 0.000602 0 0 FAM173B 134145 broad.mit.edu 37 5 10239183 10239183 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:10239183C>A uc003jeo.2 - 2 331 c.302G>T c.(301-303)CGC>CTC p.R101L FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.R101L NM_199133 NP_954584 Q6P4H8 F173B_HUMAN hypothetical protein LOC134145 101 integral to membrane kidney(1)|central_nervous_system(1) 2 ACTCACAATGCGTCCGTCCCC 0.398 NA 14 97 1.5739e-10 2.46892e-10 0.004007 1 0 CTNND2 1501 broad.mit.edu 37 5 11411693 11411693 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:11411693G>T uc003jfa.1 - 5 539 c.394C>A c.(394-396)CAG>AAG p.Q132K CTNND2_uc010itt.2_Missense_Mutation_p.Q41K|CTNND2_uc011cmy.1_Missense_Mutation_p.Q41K|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 132 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 CCTGATTCCTGTAGTGACCTA 0.383 NA 17 114 2.48551e-13 4.16721e-13 0.00499 1 0 FBXL7 23194 broad.mit.edu 37 5 15928432 15928432 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:15928432G>T uc003jfn.1 + 3 1042 c.561G>T c.(559-561)ATG>ATT p.M187I NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 187 LRR 1. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TGTGTCTCATGCTGGAAACCG 0.632 NA 3 19 0.00909568 0.00987956 0.009096 1 0 CDH18 1016 broad.mit.edu 37 5 19520818 19520818 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:19520818T>G uc003jgc.2 - 9 1837 c.1460A>C c.(1459-1461)GAA>GCA p.E487A CDH18_uc003jgd.2_Missense_Mutation_p.E487A|CDH18_uc011cnm.1_Missense_Mutation_p.E487A NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 487 Extracellular (Potential).|Cadherin 5. 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) CCTGGCAAGTTCGGGTGGATT 0.378 NA 8 104 0 0 0.008291 0 0 PRDM9 56979 broad.mit.edu 37 5 23526942 23526942 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:23526942G>T uc003jgo.2 + 11 1927 c.1745G>T c.(1744-1746)TGC>TTC p.C582F NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 582 C2H2-type 4. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CCCTATGTCTGCAGGGAGTGT 0.597 NA HNSCC(3;0.000094) 23 54 3.73988e-18 6.55601e-18 0.00632 1 0 PDZD2 23037 broad.mit.edu 37 5 32073957 32073957 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:32073957A>T uc003jhl.2 + 18 3133 c.2745A>T c.(2743-2745)AAA>AAT p.K915N PDZD2_uc003jhm.2_Missense_Mutation_p.K915N|PDZD2_uc011cnx.1_Missense_Mutation_p.K741N NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 915 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AGCCTGGAAAACCCAGAGCCA 0.557 NA 4 91 0 0 0.001168 0 0 RXFP3 51289 broad.mit.edu 37 5 33937275 33937275 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:33937275C>G uc003jic.1 + 1 787 c.430C>G c.(430-432)CTT>GTT p.L144V NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 144 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GGAGAACGCTCTTGACTTCAA 0.562 NA 3 105 0 0 0.009096 0 0 RXFP3 51289 broad.mit.edu 37 5 33938220 33938220 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:33938220C>T uc003jic.1 + 1 1732 c.1375C>T c.(1375-1377)CGC>TGC p.R459C NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 459 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 CAGCGGGGGGCGCTACGACCT 0.597 NA 4 20 0 0 0.000602 0 0 FYB 2533 broad.mit.edu 37 5 39134992 39134992 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:39134992T>A uc003jls.2 - 7 1707 c.1640A>T c.(1639-1641)GAA>GTA p.E547V FYB_uc003jlt.2_Missense_Mutation_p.E547V|FYB_uc003jlu.2_Missense_Mutation_p.E547V|FYB_uc011cpl.1_Missense_Mutation_p.E557V NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 547 SH3. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) CCATTTTCCTTCTGGGTTGTC 0.413 NA 25 43 0 0 0.004656 0 0 ZNF131 7690 broad.mit.edu 37 5 43174960 43174960 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:43174960G>A uc011cpw.1 + 7 1633 c.1597G>A c.(1597-1599)GAA>AAA p.E533K ZNF131_uc003jnj.3_Missense_Mutation_p.E254K|ZNF131_uc003jnk.2_Missense_Mutation_p.E499K|ZNF131_uc003jnn.3_Missense_Mutation_p.E254K|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 533 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AATTCAGACTGAAGAAGGTAC 0.478 NA 6 44 0 0 0.001168 0 0 ITGA2 3673 broad.mit.edu 37 5 52377468 52377468 + Missense_Mutation SNP G G T rs139705254 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:52377468G>T uc003joy.2 + 26 3229 c.3086G>T c.(3085-3087)GGA>GTA p.G1029V ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.G953V|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 1029 Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CTGAAAATAGGACAAACATCT 0.373 NA 8 28 5.68852e-11 8.98123e-11 0.004482 1 0 PDE4D 5144 broad.mit.edu 37 5 58271612 58271612 + Nonsense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:58271612G>A uc003jsa.2 - 14 2057 c.1885C>T c.(1885-1887)CAG>TAG p.Q629* PDE4D_uc003jrx.2_Nonsense_Mutation_p.Q493*|PDE4D_uc003jry.2_Nonsense_Mutation_p.Q327*|PDE4D_uc003jrz.2_Nonsense_Mutation_p.Q565*|PDE4D_uc003jsb.2_Nonsense_Mutation_p.Q568*|PDE4D_uc003jrt.2_Nonsense_Mutation_p.Q327*|PDE4D_uc003jru.2_Nonsense_Mutation_p.Q405*|PDE4D_uc003jrv.2_Nonsense_Mutation_p.Q499*|PDE4D_uc003jrw.2_Nonsense_Mutation_p.Q507*|PDE4D_uc003jrs.2_Nonsense_Mutation_p.Q338* NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 629 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CGGTACAGCTGGAGAGGCTTT 0.493 NA 8 59 0 0 0.004482 0 0 HTR1A 3350 broad.mit.edu 37 5 63256706 63256706 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:63256706C>T uc011cqt.1 - 1 841 c.841G>A c.(841-843)GTG>ATG p.V281M NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 281 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCTTGCCTCACCGCGCCATTG 0.652 NA 11 39 0 0 0.000978 0 0 HTR1A 3350 broad.mit.edu 37 5 63256880 63256880 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:63256880G>A uc011cqt.1 - 1 667 c.667C>T c.(667-669)CGC>TGC p.R223C NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 223 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ATGCGGAAGCGCGCAGCTCGG 0.567 NA 37 86 0 0 0.004289 0 0 HTR1A 3350 broad.mit.edu 37 5 63256927 63256927 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:63256927G>A uc011cqt.1 - 1 620 c.620C>T c.(619-621)CCG>CTG p.P207L NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 207 Helical; Name=5; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GAGCAGCAGCGGGATGTAGAA 0.587 NA 5 186 0 0 0.000602 0 0 TNPO1 3842 broad.mit.edu 37 5 72201204 72201204 + Silent SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:72201204A>G uc003kck.3 + 24 2811 c.2664A>G c.(2662-2664)TTA>TTG p.L888L TNPO1_uc011csj.1_Silent_p.L838L|TNPO1_uc003kch.2_Silent_p.L880L|TNPO1_uc003kci.3_Silent_p.L880L|TNPO1_uc003kcg.3_Silent_p.L880L NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 888 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) CTCTTCCCTTAAAAGAGCGTC 0.358 NA 21 127 0 0 0.010504 0 0 SERINC5 256987 broad.mit.edu 37 5 79473158 79473158 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:79473158C>A uc003kgj.2 - 4 565 c.436G>T c.(436-438)GAT>TAT p.D146Y SERINC5_uc003kgk.2_Missense_Mutation_p.D146Y|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.D146Y|SERINC5_uc011ctj.1_Missense_Mutation_p.D146Y NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 146 Cytoplasmic (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GTGTCCTGATCTGGAATGAAG 0.403 NA 13 46 2.32078e-09 3.49073e-09 0.003163 1 0 FER 2241 broad.mit.edu 37 5 108516501 108516501 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:108516501G>A uc003kop.1 + 18 2486 c.2102G>A c.(2101-2103)AGT>AAT p.S701N FER_uc011cvg.1_Missense_Mutation_p.S526N NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 701 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) CTGAAAATCAGTGACTTTGGA 0.398 Colon(146;1051 1799 9836 27344 47401) NA 25 88 0 0 0.00333 0 0 DMXL1 1657 broad.mit.edu 37 5 118500202 118500202 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:118500202G>T uc003ksd.2 + 20 4884 c.4703G>T c.(4702-4704)GGC>GTC p.G1568V DMXL1_uc010jcl.1_Missense_Mutation_p.G1568V NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1568 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) ATTTCTTCAGGCCTGTCTACA 0.333 NA 12 45 6.40141e-05 8.01272e-05 0.000978 1 0 MEGF10 84466 broad.mit.edu 37 5 126769092 126769092 + Nonsense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:126769092G>A uc003kuh.3 + 15 2093 c.1731G>A c.(1729-1731)TGG>TGA p.W577* MEGF10_uc003kui.3_Nonsense_Mutation_p.W577* NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 577 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11. 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) AGGGACGCTGGGGCCCCAACT 0.577 NA 13 60 0 0 0.001855 0 0 SEPT8 23176 broad.mit.edu 37 5 132097248 132097248 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:132097248G>A uc003kxr.2 - 7 1102 c.864C>T c.(862-864)CTC>CTT p.L288L SEPT8_uc003kxs.1_Silent_p.L288L|SEPT8_uc003kxu.2_Silent_p.L288L|SEPT8_uc011cxi.1_Silent_p.L286L|SEPT8_uc003kxv.2_Silent_p.L286L|SEPT8_uc003kxt.2_Silent_p.L228L NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN septin 8 isoform a 288 cell cycle septin complex GTP binding|protein binding ovary(2) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTGCTCGCGGAGGTCTTCCA 0.592 NA 8 33 0 0 0.004482 0 0 TGFBI 7045 broad.mit.edu 37 5 135390519 135390519 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:135390519G>A uc003lbf.3 + 10 1540 c.1379G>A c.(1378-1380)GGC>GAC p.G460D TGFBI_uc003lbg.3_Missense_Mutation_p.G193D|TGFBI_uc003lbh.3_Missense_Mutation_p.G286D|TGFBI_uc011cyb.1_Missense_Mutation_p.G286D|TGFBI_uc010jed.2_Missense_Mutation_p.G193D NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 460 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTGGGCGGCAAAAAACTG 0.423 NA 5 223 0 0 0.000602 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167035 140167035 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:140167035G>T uc003lhb.2 + 1 1160 c.1160G>T c.(1159-1161)TGC>TTC p.C387F PCDHA1_uc003lha.2_Missense_Mutation_p.C387F|PCDHA1_uc003lgz.2_Missense_Mutation_p.C387F NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 387 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGACTTGCTCCTTAATG 0.567 NA 24 61 1.37878e-21 2.47638e-21 0.00333 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188946 140188946 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:140188946C>T uc003lhi.2 + 1 2275 c.2174C>T c.(2173-2175)GCG>GTG p.A725V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A725V|PCDHA4_uc011daa.1_Missense_Mutation_p.A725V NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 725 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTGCTCTGCGCTGCCCACC 0.662 NA 16 44 0 0 0.00499 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250613 140250613 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:140250613C>G uc003lia.2 + 1 2783 c.1925C>G c.(1924-1926)CCG>CGG p.P642R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.P642R NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 642 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGACTCGCCGCGCCACCGA 0.687 NA 13 29 0 0 0.003163 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515678 140515678 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:140515678C>A uc003liq.2 + 1 879 c.662C>A c.(661-663)CCC>CAC p.P221H NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 221 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGGCTCCGCCCAGGTCCGGG 0.557 NA 18 102 5.3912e-06 7.17845e-06 0.006122 1 0 PCDHB5 26167 broad.mit.edu 37 5 140515852 140515852 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:140515852A>G uc003liq.2 + 1 1053 c.836A>G c.(835-837)TAT>TGT p.Y279C NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 279 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTGTAGCCTATGCTCTATTC 0.468 NA 49 146 0 0 0.00361 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531098 140531098 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:140531098G>A uc003lir.2 + 1 1260 c.1260G>A c.(1258-1260)ACG>ACA p.T420T PCDHB6_uc011dah.1_Silent_p.T284T NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 420 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCACTATCACGGTCACTGATT 0.532 NA 9 70 0 0 0.004482 0 0 YIPF5 81555 broad.mit.edu 37 5 143545042 143545042 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:143545042C>A uc003lnk.3 - 3 678 c.237G>T c.(235-237)CAG>CAT p.Q79H YIPF5_uc003lnl.3_Missense_Mutation_p.Q79H|YIPF5_uc010jgl.2_Missense_Mutation_p.Q25H NM_001024947 NP_001020118 Q969M3 YIPF5_HUMAN Yip1 domain family, member 5 79 Cytoplasmic (Potential).|Interaction with Sec23. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane ovary(1)|skin(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CATAGAAAGGCTGAGGTGAAG 0.448 NA 13 81 0.00400662 0.00447152 0.004007 1 0 PPARGC1B 133522 broad.mit.edu 37 5 149216164 149216164 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:149216164G>T uc003lrc.2 + 8 2188 c.2146G>T c.(2146-2148)GGG>TGG p.G716W PPARGC1B_uc003lrb.1_Missense_Mutation_p.G716W|PPARGC1B_uc003lrd.2_Missense_Mutation_p.G677W|PPARGC1B_uc003lrf.2_Missense_Mutation_p.G695W|PPARGC1B_uc003lre.1_Missense_Mutation_p.G695W NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 716 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGAGCCGTCTGGGGTTCACCT 0.642 NA 10 32 2.17888e-05 2.81406e-05 0.006214 1 0 FAT2 2196 broad.mit.edu 37 5 150945458 150945458 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:150945458G>T uc003lue.3 - 1 3048 c.3035C>A c.(3034-3036)ACT>AAT p.T1012N GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.T1012N NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1012 Extracellular (Potential).|Cadherin 8. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGGCAGAGAGTCCTGCGGGC 0.607 NA 6 27 5.9392e-07 8.17619e-07 0.001168 1 0 DOCK2 1794 broad.mit.edu 37 5 169129310 169129310 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:169129310A>T uc003maf.2 + 14 1342 c.1262A>T c.(1261-1263)GAT>GTT p.D421V DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_5'Flank|DOCK2_uc010jjl.1_5'UTR NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 421 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCTCAGGGGATGTCAGGAAC 0.498 NA OREG0017017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 76 0 0 0.006214 0 0 FLT4 2324 broad.mit.edu 37 5 180046339 180046339 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr5:180046339G>A uc003mma.3 - 19 2754 c.2675C>T c.(2674-2676)GCG>GTG p.A892V FLT4_uc003mlz.3_Missense_Mutation_p.A892V NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 892 Cytoplasmic (Potential).|Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CGACATCAGCGCGCGGTGCTC 0.701 Colon(97;1075 1466 27033 27547 35871) NA Congenital_Hereditary_Lymphedema 4 16 0 0 0.000602 0 0 KDM1B 221656 broad.mit.edu 37 6 18207730 18207730 + Silent SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:18207730A>G uc003nco.1 + 9 1227 c.1152A>G c.(1150-1152)GCA>GCG p.A384A KDM1B_uc003ncn.1_Silent_p.A355A NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 587 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 AAAAACTGGCAGAAGGGCTTG 0.517 NA 14 43 0 0 0.00245 0 0 KIAA0319 9856 broad.mit.edu 37 6 24566863 24566863 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:24566863A>T uc011djo.1 - 14 2491 c.2254T>A c.(2254-2256)TAT>AAT p.Y752N KIAA0319_uc011djp.1_Missense_Mutation_p.Y707N|KIAA0319_uc003neh.1_Missense_Mutation_p.Y752N|KIAA0319_uc011djq.1_Missense_Mutation_p.Y743N|KIAA0319_uc011djr.1_Missense_Mutation_p.Y752N|KIAA0319_uc010jpt.1_Missense_Mutation_p.Y163N NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 752 PKD 5.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 ATCCACAGATAGGACACAATT 0.483 NA 10 108 0 0 0.006214 0 0 ZNF192 7745 broad.mit.edu 37 6 28121316 28121316 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:28121316G>A uc003nkn.1 + 6 1442 c.1258G>A c.(1258-1260)GGC>AGC p.G420S ZNF192_uc010jqx.1_Missense_Mutation_p.G420S|ZNF192_uc010jqy.1_Missense_Mutation_p.G233S|ZNF192_uc011dkz.1_Missense_Mutation_p.G233S NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 420 C2H2-type 4. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TCAGAGTGCGGGCCTTATTCT 0.493 NA 36 41 0 0 0.003271 0 0 OR2B3 442184 broad.mit.edu 37 6 29054770 29054770 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:29054770C>A uc003nlx.2 - 1 321 c.256G>T c.(256-258)GGT>TGT p.G86C NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 TTGTTGCAACCAATATTTACC 0.448 NA 43 60 2.66277e-13 4.45419e-13 0.006999 1 0 OR2J2 26707 broad.mit.edu 37 6 29142069 29142069 + Nonsense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:29142069T>G uc011dlm.1 + 1 759 c.657T>G c.(655-657)TAT>TAG p.Y219* NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 219 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCACTACCTATGGTGCCATTG 0.458 NA 16 105 0 0 0.00499 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34835154 34835154 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:34835154C>T uc003oju.3 + 16 3799 c.3565C>T c.(3565-3567)CCG>TCG p.P1189S UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1189 ovary(3) 3 CATCTTTCACCCGGTCAGCAG 0.502 NA 16 114 0 0 0.003163 0 0 PNPLA1 285848 broad.mit.edu 37 6 36269754 36269754 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:36269754C>G uc010jwf.2 + 6 892 c.892C>G c.(892-894)CGA>GGA p.R298G PNPLA1_uc003olw.1_Missense_Mutation_p.R203G|PNPLA1_uc010jwe.1_Missense_Mutation_p.R212G NM_001145717 NP_001139189 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 298 lipid catabolic process hydrolase activity large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 ACCAAGCCTTCGAGCACGGCA 0.582 NA OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 36 0 0 0.001168 0 0 TREM2 54209 broad.mit.edu 37 6 41127558 41127558 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:41127558C>A uc003opy.2 - 3 556 c.454G>T c.(454-456)GAT>TAT p.D152Y TREM2_uc003opz.2_Missense_Mutation_p.D182Y|TREM2_uc010jxl.1_Missense_Mutation_p.D182Y NM_018965 NP_061838 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 152 Extracellular (Potential). axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) ACATGGGCATCCTCGAAGCTC 0.627 NA 5 33 3.59834e-05 4.59055e-05 0.001168 1 0 USP49 25862 broad.mit.edu 37 6 41774568 41774568 + Missense_Mutation SNP C C T rs148441118 byFrequency TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:41774568C>T uc003ori.2 - 4 376 c.154G>A c.(154-156)GAC>AAC p.D52N NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 52 UBP-type. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGGGCGTGGTCCTCAATATAG 0.587 NA 7 97 0 0 0.00308 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267156 43267156 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:43267156T>A uc003out.2 + 3 527 c.428T>A c.(427-429)CTG>CAG p.L143Q SLC22A7_uc010jyl.1_Missense_Mutation_p.L141Q|SLC22A7_uc003ous.2_Missense_Mutation_p.L141Q NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 143 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) CAGAAAGGTCTGAACAGAGCT 0.582 NA 4 63 0 0 0.000602 0 0 ZNF318 24149 broad.mit.edu 37 6 43322931 43322931 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:43322931T>A uc003oux.2 - 4 2219 c.2141A>T c.(2140-2142)AAG>ATG p.K714M ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 714 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ATGGTCAGACTTTAGGAATGG 0.512 NA 9 35 0 0 0.006214 0 0 XPO5 57510 broad.mit.edu 37 6 43498531 43498531 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:43498531T>A uc003ovp.2 - 23 2783 c.2572A>T c.(2572-2574)ATG>TTG p.M858L NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 858 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TCTTGCTGCATGGAAGGGCCT 0.463 NA 10 44 0 0 0.006214 0 0 MUT 4594 broad.mit.edu 37 6 49412407 49412407 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:49412407C>A uc003ozg.3 - 9 1876 c.1621G>T c.(1621-1623)GCT>TCT p.A541S NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 541 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCGCTAGCAGCACATTCGGTT 0.438 NA 25 223 1.04121e-07 1.4637e-07 0.005443 1 0 RHAG 6005 broad.mit.edu 37 6 49582494 49582494 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:49582494C>A uc003ozk.3 - 5 775 c.713G>T c.(712-714)AGG>ATG p.R238M RHAG_uc010jzl.2_Missense_Mutation_p.R238M|RHAG_uc010jzm.2_Missense_Mutation_p.R238M NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 238 Extracellular (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) TACAATGGCCCTGCACTGTTT 0.507 Ovarian(176;476 2003 7720 43408 44749) NA 11 67 3.07112e-06 4.13441e-06 0.000978 1 0 PKHD1 5314 broad.mit.edu 37 6 51907900 51907900 + Nonsense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:51907900C>A uc003pah.1 - 27 3130 c.2854G>T c.(2854-2856)GGA>TGA p.G952* PKHD1_uc003pai.2_Nonsense_Mutation_p.G952* NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 952 IPT/TIG 4.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AAACCAGTTCCGGTAATGTAA 0.353 NA 7 41 8.12818e-05 0.000100707 0.001984 1 0 DST 667 broad.mit.edu 37 6 56373386 56373386 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:56373386C>A uc003pdf.2 - 69 12851 c.12823G>T c.(12823-12825)GAC>TAC p.D4275Y DST_uc003pcz.3_Missense_Mutation_p.D4097Y|DST_uc011dxj.1_Missense_Mutation_p.D4126Y|DST_uc011dxk.1_Missense_Mutation_p.D4137Y|DST_uc003pcy.3_Missense_Mutation_p.D3771Y NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6183 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTTCCAGGTCCCGGATGAAA 0.388 NA 35 105 5.71845e-15 9.81265e-15 0.005524 1 0 COL12A1 1303 broad.mit.edu 37 6 75839938 75839938 + Nonsense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:75839938C>A uc003phs.2 - 37 6245 c.6079G>T c.(6079-6081)GGA>TGA p.G2027* COL12A1_uc003pht.2_Nonsense_Mutation_p.G863* NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2027 Fibronectin type-III 16. 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 TTCCTTGGTCCACTGCGTGGT 0.443 NA 15 39 6.72482e-11 1.05945e-10 0.003163 1 0 ZNF292 23036 broad.mit.edu 37 6 87970078 87970078 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:87970078G>T uc003plm.3 + 8 6772 c.6731G>T c.(6730-6732)GGA>GTA p.G2244V NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CACGGGATTGGACTAAGGGCA 0.418 NA 11 63 0.000673444 0.000783897 0.008291 1 0 C6orf167 253714 broad.mit.edu 37 6 97677061 97677061 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:97677061T>A uc003ppb.2 - 14 2014 c.1748A>T c.(1747-1749)CAG>CTG p.Q583L C6orf167_uc011eaf.1_Missense_Mutation_p.Q543L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 583 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) CAGATTTTTCTGGGCATACAT 0.438 NA 10 52 0 0 0.008291 0 0 SOBP 55084 broad.mit.edu 37 6 107955303 107955303 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:107955303G>A uc003prx.2 + 6 1759 c.1255G>A c.(1255-1257)GCC>ACC p.A419T NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 419 Pro-rich. metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) TCCGCACCATGCCTCCAACCC 0.692 NA 8 58 0 0 0.004482 0 0 SCML4 256380 broad.mit.edu 37 6 108042097 108042097 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:108042097C>A uc010kdf.2 - 6 1034 c.783G>T c.(781-783)TTG>TTT p.L261F SCML4_uc003prz.3_Missense_Mutation_p.L203F|SCML4_uc011eam.1_Missense_Mutation_p.L261F|SCML4_uc003pry.3_Missense_Mutation_p.L19F|SCML4_uc003psa.3_Missense_Mutation_p.L232F NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) AGGAGGGGTGCAAGGAGCCCC 0.622 NA 5 49 0.000602214 0.000706611 0.000602 1 0 SLC22A16 85413 broad.mit.edu 37 6 110746219 110746219 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:110746219G>T uc003puf.2 - 8 1658 c.1591C>A c.(1591-1593)CGG>AGG p.R531R SLC22A16_uc003pue.2_Silent_p.R512R NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 531 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) GTTGCTAGCCGTTTCCCAAGG 0.418 NA 19 74 0.000132079 0.000163091 0.008871 1 0 HINT3 135114 broad.mit.edu 37 6 126298798 126298798 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:126298798C>T uc003qal.3 + 5 788 c.525C>T c.(523-525)CAC>CAT p.H175H HINT3_uc010keu.2_Silent_p.H66H NM_138571 NP_612638 Q9NQE9 HINT3_HUMAN histidine triad nucleotide binding protein 3 175 mitochondrion|nucleolus hydrolase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321) AGGCTGATCACTTGATTGAAA 0.299 NA 10 74 0 0 0.006214 0 0 EPB41L2 2037 broad.mit.edu 37 6 131216229 131216229 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:131216229C>A uc003qch.2 - 9 1449 c.1267G>T c.(1267-1269)GTG>TTG p.V423L EPB41L2_uc003qcg.1_Missense_Mutation_p.V423L|EPB41L2_uc011eby.1_Missense_Mutation_p.V423L|EPB41L2_uc003qci.2_Missense_Mutation_p.V423L|EPB41L2_uc010kfk.2_Missense_Mutation_p.V423L|EPB41L2_uc010kfl.1_Missense_Mutation_p.V423L NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 423 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TTAGCACACACGCCCAGCTTG 0.403 NA 9 65 0.000673444 0.000783897 0.008291 1 0 EYA4 2070 broad.mit.edu 37 6 133849880 133849880 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:133849880G>T uc003qec.3 + 20 2315 c.1857G>T c.(1855-1857)TGG>TGT p.W619C EYA4_uc011ecq.1_Missense_Mutation_p.W565C|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.W619C|EYA4_uc003qee.3_Missense_Mutation_p.W596C|EYA4_uc011ecs.1_Missense_Mutation_p.W625C|uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 619 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TGCCCTTCTGGAGGATATCCA 0.328 Melanoma(57;398 1237 3528 4702 7415) NA 23 159 3.28513e-13 5.44541e-13 0.003954 1 0 KIAA1244 57221 broad.mit.edu 37 6 138629992 138629992 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:138629992G>T uc003qhu.2 + 24 4090 c.4090G>T c.(4090-4092)GGA>TGA p.G1364* NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1364 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GTTTGTCAAAGGACTGGGTAA 0.473 NA 14 145 1.05317e-09 1.60056e-09 0.00245 1 0 GPR126 57211 broad.mit.edu 37 6 142736158 142736158 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:142736158C>G uc010khc.2 + 19 3005 c.2594C>G c.(2593-2595)ACT>AGT p.T865S GPR126_uc010khd.2_Missense_Mutation_p.T837S|GPR126_uc010khe.2_Missense_Mutation_p.T865S|GPR126_uc010khf.2_Missense_Mutation_p.T837S NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 865 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AAAGTCCTCACTTTCATCAGC 0.388 NA 11 54 0 0 0.008291 0 0 UTRN 7402 broad.mit.edu 37 6 144745141 144745141 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:144745141G>T uc003qkt.2 + 5 424 c.332G>T c.(331-333)GGG>GTG p.G111V UTRN_uc010khq.1_Missense_Mutation_p.G111V NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 111 CH 1.|Actin-binding. 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) GTGAATATAGGGGGAACTGAC 0.353 NA 16 130 6.94344e-10 1.05964e-09 0.006122 1 0 KATNA1 11104 broad.mit.edu 37 6 149959680 149959680 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:149959680T>C uc003qmr.1 - 1 49 c.4A>G c.(4-6)AGT>GGT p.S2G KATNA1_uc003qms.2_Missense_Mutation_p.S2G|KATNA1_uc003qmt.2_Missense_Mutation_p.S2G|KATNA1_uc011eed.1_Missense_Mutation_p.S2G NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 2 Interaction with microtubule.|Interaction with KATNB1. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) ATAAGAAGACTCATGTTCAAC 0.328 NA 19 115 0 0 0.007413 0 0 SYNE1 23345 broad.mit.edu 37 6 152527394 152527394 + Missense_Mutation SNP A A C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:152527394A>C uc010kiw.2 - 126 23530 c.22928T>G c.(22927-22929)TTG>TGG p.L7643W SYNE1_uc010kiv.2_Missense_Mutation_p.L2167W|SYNE1_uc003qos.3_Missense_Mutation_p.L2167W|SYNE1_uc003qot.3_Missense_Mutation_p.L7572W|SYNE1_uc003qou.3_Missense_Mutation_p.L7643W|SYNE1_uc003qor.3_Missense_Mutation_p.L543W NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7643 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCGGCCTGCAAGGCGGCCTC 0.507 NA HNSCC(10;0.0054) 8 40 0 0 0.004482 0 0 SYNE1 23345 broad.mit.edu 37 6 152748945 152748945 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:152748945C>G uc010kiw.2 - 38 5585 c.4983G>C c.(4981-4983)GAG>GAC p.E1661D SYNE1_uc003qot.3_Missense_Mutation_p.E1668D|SYNE1_uc003qou.3_Missense_Mutation_p.E1661D|SYNE1_uc010kjb.1_Missense_Mutation_p.E1644D|SYNE1_uc003qow.2_Missense_Mutation_p.E956D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1661 Spectrin 2.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATAGTTCTTTCTCTAGCCTAA 0.418 NA HNSCC(10;0.0054) 19 59 0 0 0.008871 0 0 LPA 4018 broad.mit.edu 37 6 161012107 161012107 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:161012107T>A uc003qtl.2 - 24 3776 c.3656A>T c.(3655-3657)AAT>ATT p.N1219I NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3727 Kringle 33. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGCATCTGGATTCCTGCAGTA 0.453 NA 3 32 0 0 0.000602 0 0 PLG 5340 broad.mit.edu 37 6 161135904 161135904 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:161135904G>T uc003qtm.3 + 6 689 c.626G>T c.(625-627)TGG>TTG p.W209L NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 209 Kringle 2. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TGCCAGGCCTGGGACTCTCAG 0.473 NA 5 35 0.00116845 0.00134087 0.001168 1 0 THBS2 7058 broad.mit.edu 37 6 169637732 169637732 + Missense_Mutation SNP A A C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:169637732A>C uc003qwt.2 - 9 1536 c.1288T>G c.(1288-1290)TGT>GGT p.C430G NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 430 TSP type-1 1. 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) CGGGTGTCACACTTGCTCAGA 0.642 Esophageal Squamous(91;219 1934 18562 44706) NA 5 45 0 0 0.000602 0 0 C7orf26 79034 broad.mit.edu 37 7 6631427 6631427 + Nonsense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:6631427G>T uc003sqo.1 + 2 343 c.343G>T c.(343-345)GGA>TGA p.G115* C7orf26_uc003sqp.1_Nonsense_Mutation_p.G96*|C7orf26_uc003sqq.1_5'UTR NM_024067 NP_076972 Q96N11 CG026_HUMAN hypothetical protein LOC79034 115 ovary(1) 1 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) GAGCTTGTTGGGAAAACTGGT 0.512 NA 29 155 2.4375e-19 4.31431e-19 0.007291 1 0 ANKMY2 57037 broad.mit.edu 37 7 16666776 16666776 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:16666776C>A uc003sti.2 - 3 360 c.160G>T c.(160-162)GCA>TCA p.A54S ANKMY2_uc010ktz.2_RNA NM_020319 NP_064715 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 54 ANK 1. cilium zinc ion binding central_nervous_system(1) 1 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CCTTTATATGCTGCATGCATT 0.353 NA 10 37 9.16793e-09 1.33768e-08 0.00499 1 0 FERD3L 222894 broad.mit.edu 37 7 19184913 19184913 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:19184913G>T uc003suo.1 - 1 132 c.73C>A c.(73-75)CCG>ACG p.P25T uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 25 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 GGGCGTCTCGGGGAGGCCAGG 0.667 NA 7 90 1.06961e-07 1.49787e-07 0.00308 1 0 IGF2BP3 10643 broad.mit.edu 37 7 23383458 23383458 + Missense_Mutation SNP G G T rs149351958 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:23383458G>T uc003swg.2 - 9 1222 c.956C>A c.(955-957)ACG>AAG p.T319K IGF2BP3_uc003swf.2_Intron NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 319 KH 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 ATTATACAGCGTCAATTCCTG 0.388 NA 27 96 1.77063e-15 3.04549e-15 0.005443 1 0 CPVL 54504 broad.mit.edu 37 7 29111439 29111439 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:29111439G>T uc003szv.2 - 9 933 c.814C>A c.(814-816)CAT>AAT p.H272N CPVL_uc003szw.2_Missense_Mutation_p.H272N|CPVL_uc003szx.2_Missense_Mutation_p.H272N NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 272 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 ATGCATTCATGGCACTGCTTC 0.458 NA 55 88 2.01807e-28 3.68802e-28 0.00361 1 0 CCDC129 223075 broad.mit.edu 37 7 31683245 31683245 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:31683245C>A uc003tcj.1 + 11 3254 c.2261C>A c.(2260-2262)GCA>GAA p.A754E CCDC129_uc011kad.1_Missense_Mutation_p.A764E|CCDC129_uc003tci.1_Missense_Mutation_p.A605E|CCDC129_uc011kae.1_Missense_Mutation_p.A780E|CCDC129_uc003tck.1_Missense_Mutation_p.A662E NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 754 0 GGGACAAAAGCAAGACAGTTA 0.502 NA 8 108 0.00307968 0.00345283 0.00308 1 0 NPSR1 387129 broad.mit.edu 37 7 34888198 34888198 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:34888198G>T uc003teg.1 + 8 1076 c.948G>T c.(946-948)CAG>CAT p.Q316H AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.Q316H|NPSR1_uc010kwt.1_Missense_Mutation_p.Q163H|NPSR1_uc010kwu.1_Missense_Mutation_p.Q106H|NPSR1_uc010kwv.1_Missense_Mutation_p.Q250H|NPSR1_uc003tei.1_Missense_Mutation_p.Q316H|NPSR1_uc010kww.1_Missense_Mutation_p.Q305H|NPSR1_uc011kar.1_Missense_Mutation_p.Q250H NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 316 Helical; Name=7; (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) TGATCATTCAGAACCTGCCAG 0.493 NA 111 169 2.18537e-64 4.0649e-64 0.00361 1 0 POM121L12 285877 broad.mit.edu 37 7 53103646 53103646 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:53103646C>T uc003tpz.2 + 1 298 c.282C>T c.(280-282)TCC>TCT p.S94S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 94 0 GGGTGGTCTCCGAGGGCTGGA 0.701 NA 11 25 0 0 0.00245 0 0 EGFR 1956 broad.mit.edu 37 7 55242489 55242489 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:55242489G>T uc003tqk.2 + 19 2505 c.2259G>T c.(2257-2259)CCG>CCT p.P753P EGFR_uc010kzg.1_Silent_p.P708P|EGFR_uc011kco.1_Silent_p.P700P NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 753 Cytoplasmic (Potential).|Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L747_P753>S(166)|p.L747_P753del(21)|p.L747_P753>Q(19)|p.S752_I759del(15)|p.T751_I759>N(8)|p.E746_P753>VS(6)|p.P753S(4)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.A750_E758del(2)|p.E746_P753del(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.T751_E758>A(1)|p.E746_P753>VQ(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.P753F(1)|p.L747_A755>SKS(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_K754>GC(1)|p.L747_N756>SKDD(1)|p.E749_P753>Q(1)|p.L747_P753>CG(1)|p.S752_V769del(1)|p.P753P(1)|p.R748_P753del(1)|p.E746_P753>LS(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAACATCTCCGAAAGCCAACA 0.493 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 30 56 5.91797e-21 1.05771e-20 0.002445 1 0 CLIP2 7461 broad.mit.edu 37 7 73811540 73811540 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:73811540C>A uc003uam.2 + 14 3184 c.2857C>A c.(2857-2859)CTG>ATG p.L953M CLIP2_uc003uan.2_Missense_Mutation_p.L918M NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 953 Potential. microtubule associated complex skin(3) 3 CATCCGGGGCCTGCGTGAAAA 0.637 NA 8 33 0.000442599 0.000527798 0.006214 1 0 PCLO 27445 broad.mit.edu 37 7 82785355 82785355 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:82785355C>A uc003uhx.2 - 2 891 c.602G>T c.(601-603)GGA>GTA p.G201V PCLO_uc003uhv.2_Missense_Mutation_p.G201V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 201 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTCAGGTTTTCCTTGCTCCTT 0.448 NA 6 36 0.00116845 0.00134087 0.001168 1 0 ABCB4 5244 broad.mit.edu 37 7 87074240 87074240 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:87074240A>T uc003uiv.1 - 10 1133 c.1057T>A c.(1057-1059)TGT>AGT p.C353S ABCB4_uc003uiw.1_Missense_Mutation_p.C353S|ABCB4_uc003uix.1_Missense_Mutation_p.C353S NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 353 Helical; (By similarity).|ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GCATCAATACATGGGGCAGCC 0.353 NA 6 17 0 0 0.001168 0 0 AKAP9 10142 broad.mit.edu 37 7 91708554 91708554 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:91708554G>A uc003ulg.2 + 31 7332 c.7107G>A c.(7105-7107)AAG>AAA p.K2369K AKAP9_uc003ulf.2_Silent_p.K2361K|AKAP9_uc003uli.2_Silent_p.K1992K|AKAP9_uc003ulj.2_Silent_p.K139K NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2381 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTGGACAGAAGACATCAATGA 0.383 NA T BRAF papillary thyroid 12 86 0 0 0.00245 0 0 SAMD9 54809 broad.mit.edu 37 7 92731109 92731109 + Silent SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:92731109T>C uc003umf.2 - 3 4558 c.4302A>G c.(4300-4302)CTA>CTG p.L1434L SAMD9_uc003umg.2_Silent_p.L1434L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1434 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AGAGGGAAGCTAGAAAATACG 0.373 NA 24 155 0 0 0.00333 0 0 MUC17 140453 broad.mit.edu 37 7 100676084 100676084 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:100676084C>A uc003uxp.1 + 3 1440 c.1387C>A c.(1387-1389)CCA>ACA p.P463T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 463 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5. 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) CAGCACCACTCCAGTGGCCAG 0.498 NA 47 229 5.73435e-26 1.04015e-25 0.00361 1 0 MUC17 140453 broad.mit.edu 37 7 100684682 100684682 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:100684682A>T uc003uxp.1 + 3 10038 c.9985A>T c.(9985-9987)AGC>TGC p.S3329C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3329 Extracellular (Potential).|54.|59 X approximate tandem repeats.|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) TGACGGTACTAGCATGCCAAC 0.488 NA 36 240 0 0 0.003755 0 0 MUC17 140453 broad.mit.edu 37 7 100684721 100684721 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:100684721C>G uc003uxp.1 + 3 10077 c.10024C>G c.(10024-10026)CTA>GTA p.L3342V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3342 Extracellular (Potential).|54.|59 X approximate tandem repeats.|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) AAGCACTCCACTAACAAATAT 0.493 NA 4 305 0 0 0.009096 0 0 ORC5L 5001 broad.mit.edu 37 7 103767298 103767298 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:103767298C>A uc003vcb.2 - 14 1416 c.1305G>T c.(1303-1305)TTG>TTT p.L435F ORC5L_uc011klp.1_Missense_Mutation_p.L303F NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 435 cell cycle checkpoint|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 cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 CTTGTTTTCACAAGAAATCAT 0.393 NA 9 39 2.17888e-05 2.81406e-05 0.006214 1 0 MET 4233 broad.mit.edu 37 7 116339431 116339431 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:116339431G>T uc003vij.2 + 2 480 c.293G>T c.(292-294)TGT>TTT p.C98F MET_uc010lkh.2_Missense_Mutation_p.C98F|MET_uc011knc.1_Missense_Mutation_p.C98F|MET_uc011knd.1_Missense_Mutation_p.C98F|MET_uc011kne.1_Missense_Mutation_p.C98F|MET_uc011knf.1_Missense_Mutation_p.C98F|MET_uc011kng.1_Missense_Mutation_p.C98F|MET_uc011knh.1_Missense_Mutation_p.C98F|MET_uc011kni.1_Missense_Mutation_p.C98F|MET_uc003vii.1_Missense_Mutation_p.C117F|MET_uc010lkg.2_Missense_Mutation_p.C98F|MET_uc011kmz.1_Missense_Mutation_p.C98F|MET_uc011kna.1_Missense_Mutation_p.C98F|MET_uc011knb.1_Missense_Mutation_p.C98F NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 98 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TGTTTCCCATGTCAGGACTGC 0.438 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 8 64 0.000157383 0.000192065 0.00308 1 0 ASZ1 136991 broad.mit.edu 37 7 117024854 117024854 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:117024854C>T uc003vjb.2 - 6 676 c.613G>A c.(613-615)GGA>AGA p.G205R ASZ1_uc011kno.1_Missense_Mutation_p.G205R|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 205 ANK 5. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TTATTAGCTCCAAGTTCAAGC 0.363 NA 28 72 0 0 0.004656 0 0 C7orf58 79974 broad.mit.edu 37 7 120906829 120906829 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:120906829A>G uc003vjq.3 + 20 3047 c.2600A>G c.(2599-2601)AAT>AGT p.N867S NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 867 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) CTTAATTCCAATCACCTGCAA 0.363 NA 16 117 0 0 0.008871 0 0 HYAL4 23553 broad.mit.edu 37 7 123516883 123516883 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:123516883G>A uc003vlc.2 + 5 1758 c.1120G>A c.(1120-1122)GAG>AAG p.E374K HYAL4_uc011knz.1_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 374 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 CAGAGCTGCTGAGGTATGCAG 0.468 NA 14 106 0 0 0.004007 0 0 GRM8 2918 broad.mit.edu 37 7 126746619 126746619 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:126746619T>A uc003vlr.2 - 2 969 c.658A>T c.(658-660)ACA>TCA p.T220S GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T220S|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 220 Extracellular (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) GAAGCCAGTGTCGAAACATAA 0.493 NA HNSCC(24;0.065) 4 44 0 0 0.000602 0 0 FAM180A 389558 broad.mit.edu 37 7 135418761 135418761 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:135418761C>T uc003vtd.2 - 3 750 c.484G>A c.(484-486)GAC>AAC p.D162N FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.D162N NM_205855 NP_995327 Q6UWF9 F180A_HUMAN hypothetical protein LOC389558 precursor 162 extracellular region ovary(2) 2 CGCATCAAGTCGTGCCTCAGG 0.612 NA 3 22 0 0 0.004672 0 0 CHRM2 1129 broad.mit.edu 37 7 136700873 136700873 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:136700873G>T uc003vtf.1 + 4 1884 c.1261G>T c.(1261-1263)GTG>TTG p.V421L CHRM2_uc003vtg.1_Missense_Mutation_p.V421L|CHRM2_uc003vtj.1_Missense_Mutation_p.V421L|CHRM2_uc003vtk.1_Missense_Mutation_p.V421L|CHRM2_uc003vtl.1_Missense_Mutation_p.V421L|CHRM2_uc003vtm.1_Missense_Mutation_p.V421L|CHRM2_uc003vti.1_Missense_Mutation_p.V421L|CHRM2_uc003vto.1_Missense_Mutation_p.V421L|CHRM2_uc003vtn.1_Missense_Mutation_p.V421L|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 421 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCCCAACACTGTGTGGACAAT 0.453 NA 40 133 7.66079e-34 1.40704e-33 0.002522 1 0 PRSS1 5644 broad.mit.edu 37 7 142459766 142459766 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:142459766C>A uc003wak.2 + 3 359 c.342C>A c.(340-342)TCC>TCA p.S114S uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.S54S NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 114 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCAAGCTCTCCTCACGTGCAG 0.557 NA Hereditary_Pancreatitis 19 127 1.15919e-05 1.51586e-05 0.008871 1 0 EPHB6 2051 broad.mit.edu 37 7 142564038 142564038 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:142564038G>T uc011kst.1 + 9 2213 c.1426G>T c.(1426-1428)GCT>TCT p.A476S EPHB6_uc011ksu.1_Missense_Mutation_p.A476S|EPHB6_uc003wbs.2_Missense_Mutation_p.A184S|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.A184S|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 476 Extracellular (Potential).|Fibronectin type-III 1. 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) CCCTCCTCAGGCTGCAGCCAT 0.592 NA 4 25 2.56e-06 3.46548e-06 0.009096 1 0 TAS2R41 259287 broad.mit.edu 37 7 143175790 143175790 + Nonsense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:143175790C>A uc003wdc.1 + 1 825 c.825C>A c.(823-825)TGC>TGA p.C275* uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 275 Helical; Name=7; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) TCTACCTGTGCATATCTGTCC 0.488 NA 4 70 0.000602214 0.000706611 0.000602 1 0 OR2A5 393046 broad.mit.edu 37 7 143748389 143748389 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:143748389G>C uc011ktw.1 + 1 895 c.895G>C c.(895-897)GGT>CGT p.G299R NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) AGAGGTCAAGGGTGCCCTGAA 0.498 NA 7 67 0 0 0.00308 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997243 146997243 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:146997243G>C uc003weu.1 + 9 1875 c.1359G>C c.(1357-1359)TTG>TTC p.L453F NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 453 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTTCTGGGTTGAATGATGGAC 0.378 NA HNSCC(39;0.1) 9 95 0 0 0.008291 0 0 CUL1 8454 broad.mit.edu 37 7 148484115 148484115 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:148484115T>G uc010lpg.2 + 13 1908 c.1382T>G c.(1381-1383)GTA>GGA p.V461G CUL1_uc003wey.2_Missense_Mutation_p.V461G|CUL1_uc003wez.2_Missense_Mutation_p.V351G|CUL1_uc003wfa.2_Missense_Mutation_p.V122G NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 461 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GACAAAGACGTATTTCAGAAG 0.488 NA 13 87 0 0 0.001368 0 0 SSPO 23145 broad.mit.edu 37 7 149483226 149483226 + Nonsense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:149483226C>A uc010lpk.2 + 23 3294 c.3294C>A c.(3292-3294)TAC>TAA p.Y1098* SSPO_uc010lpl.1_Nonsense_Mutation_p.Y348* NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1098 VWFD 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAAGGTCTACACAGGCCCTG 0.657 NA 3 15 0.00024832 0.000299541 0.009096 1 0 PPP1R3B 79660 broad.mit.edu 37 8 8998956 8998956 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:8998956T>C uc003wsn.3 - 2 371 c.206A>G c.(205-207)CAG>CGG p.Q69R PPP1R3B_uc003wso.3_Missense_Mutation_p.Q68R NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory (inhibitor) 69 glycogen metabolic process ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) GGCCAGCCCCTGGTTGTCTGC 0.527 NA 9 60 0 0 0.008291 0 0 RP1L1 94137 broad.mit.edu 37 8 10465553 10465553 + Nonsense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:10465553C>A uc003wtc.2 - 4 6284 c.6055G>T c.(6055-6057)GAG>TAG p.E2019* NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2019 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCGTCTGACTCTGGCTGGGCC 0.612 NA 26 151 3.28513e-13 5.44541e-13 0.003954 1 0 GATA4 2626 broad.mit.edu 37 8 11606472 11606472 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:11606472G>T uc003wuc.2 + 3 1215 c.661G>T c.(661-663)GGG>TGG p.G221W GATA4_uc003wub.1_Missense_Mutation_p.G15W|GATA4_uc011kxc.1_Missense_Mutation_p.G222W NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 221 GATA-type 1. atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) TGTCAACTGTGGGGCTATGTC 0.522 NA 16 55 3.41278e-10 5.2743e-10 0.00499 1 0 ADAM28 10863 broad.mit.edu 37 8 24168942 24168942 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:24168942G>C uc003xdy.2 + 5 458 c.375G>C c.(373-375)AGG>AGC p.R125S ADAM28_uc003xdx.2_Missense_Mutation_p.R125S|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_RNA NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 125 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GCACATGTAGGGGTCTAAGGT 0.348 NSCLC(193;488 2149 22258 34798 40734) NA 5 37 0 0 0.001168 0 0 TEX15 56154 broad.mit.edu 37 8 30701025 30701025 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:30701025T>C uc003xil.2 - 1 5509 c.5509A>G c.(5509-5511)AAT>GAT p.N1837D NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1837 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CCACATACATTGATCAACTTT 0.338 NA 16 64 0 0 0.007413 0 0 DDHD2 23259 broad.mit.edu 37 8 38110569 38110569 + Silent SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:38110569A>G uc003xlb.2 + 15 2192 c.1815A>G c.(1813-1815)CCA>CCG p.P605P DDHD2_uc003xlc.2_Silent_p.P605P|DDHD2_uc003xld.2_Silent_p.P224P NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 605 DDHD. lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) CCAGAGCTCCATACCCTGCCT 0.473 NA 6 32 0 0 0.001168 0 0 AGPAT6 137964 broad.mit.edu 37 8 41469728 41469728 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:41469728G>C uc003xnz.2 + 7 1670 c.731G>C c.(730-732)TGT>TCT p.C244S NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN lysophosphatidic acid acyltransferase zeta 244 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity 0 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) GGTGGCATCTGTGTGGCCAAT 0.458 NA 5 151 0 0 0.001168 0 0 SNAI2 6591 broad.mit.edu 37 8 49832731 49832731 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:49832731G>T uc003xqp.2 - 2 513 c.349C>A c.(349-351)CTT>ATT p.L117I NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 117 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) GGGTCTGAAAGCTTGGACTGT 0.493 NA 71 225 1.91593e-42 3.55468e-42 0.00361 1 0 PXDNL 137902 broad.mit.edu 37 8 52366151 52366151 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:52366151G>A uc003xqu.3 - 10 1278 c.1177C>T c.(1177-1179)CAT>TAT p.H393Y NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 393 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AATCGACCATGATCCCGTTGT 0.473 NA 11 59 0 0 0.000978 0 0 NPBWR1 2831 broad.mit.edu 37 8 53853210 53853210 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:53853210G>T uc011ldu.1 + 1 743 c.743G>T c.(742-744)CGG>CTG p.R248L NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 248 Cytoplasmic (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) GCCAAGAAGCGGGTGACCTTC 0.672 NA 3 16 0.004672 0.00512029 0.004672 1 0 RP1 6101 broad.mit.edu 37 8 55541388 55541388 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:55541388G>T uc003xsd.1 + 4 5094 c.4946G>T c.(4945-4947)GGG>GTG p.G1649V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1649 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTTTTCCTGGGTCTACCCGC 0.373 Colon(91;1014 1389 7634 14542 40420) NA 35 167 2.42023e-17 4.20235e-17 0.003271 1 0 TRPA1 8989 broad.mit.edu 37 8 72948636 72948636 + Silent SNP C C A rs146434598 byFrequency TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:72948636C>A uc003xza.2 - 21 2617 c.2442G>T c.(2440-2442)ACG>ACT p.T814T uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 814 Helical; Name=3; (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AAATGATGCCCGTCGTGTAGA 0.353 NA 8 59 0.000157383 0.000192065 0.00308 1 0 KCNB2 9312 broad.mit.edu 37 8 73849102 73849102 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:73849102C>A uc003xzb.2 + 3 2100 c.1512C>A c.(1510-1512)TCC>TCA p.S504S NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 504 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AAACAAGCTCCAACAAGTCTT 0.562 NA 6 114 0.00307968 0.00345283 0.00308 1 0 HEY1 23462 broad.mit.edu 37 8 80679499 80679499 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:80679499G>A uc003ybm.2 - 2 320 c.120C>T c.(118-120)TCC>TCT p.S40S HEY1_uc010lzq.2_5'Flank|HEY1_uc003ybl.2_Silent_p.S40S NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN hairy/enhancer-of-split related with YRPW motif 40 angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding lung(3) 3 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) ATGTAGTTGGGGACATGGAAC 0.408 NA 89 289 0 0 0.00361 0 0 ZNF704 619279 broad.mit.edu 37 8 81577099 81577099 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:81577099C>A uc003yby.1 - 6 1110 c.878G>T c.(877-879)CGC>CTC p.R293L NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 293 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) GGGAGCTGAGCGGCTCAACGG 0.537 NA 5 112 0.000602214 0.000706611 0.000602 1 0 SLC26A7 115111 broad.mit.edu 37 8 92346639 92346639 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:92346639G>A uc003yex.2 + 7 1037 c.759G>A c.(757-759)AGG>AGA p.R253R SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.R253R|SLC26A7_uc003yfa.2_Silent_p.R253R NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 253 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGTTTAAAAGGAAAATTAAAG 0.363 NA 17 65 0 0 0.00499 0 0 KCNS2 3788 broad.mit.edu 37 8 99440308 99440308 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:99440308C>A uc003yin.2 + 2 451 c.101C>A c.(100-102)ACG>AAG p.T34K NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 34 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CGCTCGCACACGCTGCTGCGC 0.667 Pancreas(138;844 2489 9202 24627) NA 13 23 1.15088e-07 1.60552e-07 0.004007 1 0 TM7SF4 81501 broad.mit.edu 37 8 105361289 105361289 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:105361289C>A uc003ylx.1 + 2 558 c.509C>A c.(508-510)ACC>AAC p.T170N NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 170 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGGAACCAGACCCTGGCAGTC 0.458 NA 21 127 4.26978e-12 6.99822e-12 0.00333 1 0 CSMD3 114788 broad.mit.edu 37 8 113241022 113241022 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:113241022T>G uc003ynu.2 - 70 11086 c.10927A>C c.(10927-10929)ATA>CTA p.I3643L CSMD3_uc003yns.2_Missense_Mutation_p.I2845L|CSMD3_uc003ynt.2_Missense_Mutation_p.I3603L|CSMD3_uc011lhx.1_Missense_Mutation_p.I3474L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3643 Helical; (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 CCTGCAAATATAAGTGCAAAA 0.308 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 84 0 0 0.00333 0 0 KLHL38 340359 broad.mit.edu 37 8 124664263 124664263 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:124664263C>A uc003yqs.1 - 1 928 c.904G>T c.(904-906)GTC>TTC p.V302F NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 302 Kelch 1. 0 TACAGTAGGACGTCCCTGGTG 0.552 NA 22 61 4.16121e-05 5.28098e-05 0.00278 1 0 FER1L6 654463 broad.mit.edu 37 8 124975546 124975546 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:124975546G>T uc003yqw.2 + 3 311 c.105G>T c.(103-105)CAG>CAT p.Q35H NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 35 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) AAGCACTGCAGGAGGAGCCTT 0.478 NA 12 92 0.000978159 0.00113497 0.000978 1 0 WISP1 8840 broad.mit.edu 37 8 134225226 134225226 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:134225226G>T uc003yub.2 + 2 265 c.189G>T c.(187-189)CCG>CCT p.P63P WISP1_uc003yuc.2_Silent_p.P63P|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.P63P|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 63 IGFBP N-terminal. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CCCGCTGCCCGCTGGGGGTCA 0.632 NA 10 44 6.40141e-05 8.01272e-05 0.000978 1 0 FAM135B 51059 broad.mit.edu 37 8 139163668 139163668 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:139163668G>T uc003yuy.2 - 13 3221 c.3050C>A c.(3049-3051)GCA>GAA p.A1017E FAM135B_uc003yux.2_Missense_Mutation_p.A918E|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A579E|FAM135B_uc003yvb.2_Missense_Mutation_p.A579E NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1017 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AAAGGTCTCTGCAGAAGTCAG 0.522 NA HNSCC(54;0.14) 15 61 2.32078e-09 3.49073e-09 0.003163 1 0 EXOSC4 54512 broad.mit.edu 37 8 145135259 145135259 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:145135259G>A uc003zau.2 + 3 603 c.493G>A c.(493-495)GTG>ATG p.V165M GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank NM_019037 NP_061910 Q9NPD3 EXOS4_HUMAN exosome component 4 165 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCTGGCTTCGTGGACGGCAC 0.637 NA 7 56 0 0 0.001984 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773606 145773606 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:145773606C>T uc003zdt.1 - 6 1419 c.864G>A c.(862-864)CTG>CTA p.L288L ARHGAP39_uc011llk.1_Silent_p.L288L|ARHGAP39_uc003zds.1_Silent_p.L288L NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 288 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GCTGGGCCAGCAGCGGGGAGC 0.687 NA 6 21 0 0 0.001984 0 0 IL33 90865 broad.mit.edu 37 9 6252962 6252962 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:6252962T>A uc003zjt.2 + 5 497 c.440T>A c.(439-441)GTT>GAT p.V147D IL33_uc011lmg.1_Intron|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.V147D NM_033439 NP_254274 O95760 IL33_HUMAN interleukin 33 precursor 147 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity 0 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) GAGATATATGTTGAAGACTTG 0.269 NA 12 41 0 0 0.001855 0 0 TPD52L3 89882 broad.mit.edu 37 9 6328769 6328769 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:6328769G>T uc003zjw.2 + 1 395 c.174G>T c.(172-174)GGG>GGT p.G58G TPD52L3_uc003zjv.2_Silent_p.G58G|TPD52L3_uc003zjx.1_Silent_p.G58G NM_033516 NP_277051 Q96J77 TPD55_HUMAN protein kinase NYD-SP25 isoform 1 58 protein binding 0 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) GACGCTGTGGGGAACTCAAGA 0.507 NA 9 42 5.4927e-09 8.11145e-09 0.004482 1 0 BNC2 54796 broad.mit.edu 37 9 16552658 16552658 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:16552658T>A uc003zml.2 - 5 679 c.539A>T c.(538-540)CAA>CTA p.Q180L BNC2_uc011lmw.1_Missense_Mutation_p.Q85L|BNC2_uc003zmm.2_Missense_Mutation_p.Q138L|BNC2_uc003zmq.1_Missense_Mutation_p.Q194L|BNC2_uc003zmr.1_Missense_Mutation_p.Q217L|BNC2_uc003zmp.1_Missense_Mutation_p.Q208L|BNC2_uc010mij.1_Missense_Mutation_p.Q102L|BNC2_uc011lmv.1_Missense_Mutation_p.Q6L|BNC2_uc003zmo.1_Missense_Mutation_p.Q102L NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) AGGCACTGCTTGTGTCCCATA 0.562 NA 10 45 0 0 0.008291 0 0 IFNA14 3448 broad.mit.edu 37 9 21239471 21239471 + Missense_Mutation SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:21239471A>G uc010mis.2 - 1 508 c.464T>C c.(463-465)ATG>ACG p.M155T IFNA14_uc003zoo.1_RNA NM_002172 NP_002163 P01570 IFN14_HUMAN interferon, alpha 14 precursor 155 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TTTCTTCTCCATCAGATAAAG 0.443 NA 8 350 0 0 0.007291 0 0 IFNA14 3448 broad.mit.edu 37 9 21239473 21239473 + Silent SNP C C T rs150969341 byFrequency TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:21239473C>T uc010mis.2 - 1 506 c.462G>A c.(460-462)CTG>CTA p.L154L IFNA14_uc003zoo.1_RNA NM_002172 NP_002163 P01570 IFN14_HUMAN interferon, alpha 14 precursor 154 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCTTCTCCATCAGATAAAGAG 0.448 NA 8 355 0 0 0.007291 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625106 43625106 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:43625106C>T uc011lrb.1 - 4 3610 c.3581G>A c.(3580-3582)TGT>TAT p.C1194Y NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1194 integral to membrane 0 GCTGTACACACATGATCTGTT 0.438 NA 18 112 0 0 0.007413 0 0 FOXB2 442425 broad.mit.edu 37 9 79634849 79634849 + Silent SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:79634849C>T uc004ako.1 + 1 279 c.279C>T c.(277-279)TGC>TGT p.C93C NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 93 Fork-head. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 ACCCCGACTGCGGGGACATGT 0.642 NA 6 23 0 0 0.00308 0 0 UBQLN1 29979 broad.mit.edu 37 9 86293365 86293365 + Silent SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:86293365T>A uc004amv.2 - 5 1435 c.861A>T c.(859-861)GCA>GCT p.A287A UBQLN1_uc004amw.2_Silent_p.A287A NM_013438 NP_038466 Q9UMX0 UBQL1_HUMAN ubiquilin 1 isoform 1 287 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding 0 CCTGCTCTTGTGCAGCACTCA 0.458 Melanoma(186;1284 2073 12755 14558 18426) NA 25 212 0 0 0.003954 0 0 SECISBP2 79048 broad.mit.edu 37 9 91940394 91940394 + Nonsense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:91940394C>T uc004aqj.1 + 3 315 c.235C>T c.(235-237)CAG>TAG p.Q79* SECISBP2_uc010mqn.1_Nonsense_Mutation_p.Q79*|SECISBP2_uc004aqi.1_Intron|SECISBP2_uc011ltk.1_Nonsense_Mutation_p.Q79*|SECISBP2_uc004aqk.1_Intron|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Nonsense_Mutation_p.Q11* NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 79 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 TTTTCCACCTCAGTATTTATC 0.388 NA 28 136 0 0 0.004656 0 0 TLR4 7099 broad.mit.edu 37 9 120475175 120475175 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:120475175C>T uc004bjz.2 + 3 1060 c.769C>T c.(769-771)CGT>TGT p.R257C TLR4_uc004bka.2_Missense_Mutation_p.R217C|TLR4_uc004bkb.2_Missense_Mutation_p.R57C NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 257 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AGAAGTCCATCGTTTGGTTCT 0.343 NA 24 96 0 0 0.00333 0 0 TLR4 7099 broad.mit.edu 37 9 120476002 120476002 + Missense_Mutation SNP C C A rs34953464 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:120476002C>A uc004bjz.2 + 3 1887 c.1596C>A c.(1594-1596)TTC>TTA p.F532L TLR4_uc004bka.2_Missense_Mutation_p.F492L|TLR4_uc004bkb.2_Missense_Mutation_p.F332L NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 532 LRR 17.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ACAACAACTTCTTTTCATTGG 0.423 NA 8 46 0.000157383 0.000192065 0.00308 1 0 NUP214 8021 broad.mit.edu 37 9 134103703 134103703 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:134103703G>T uc004cag.2 + 33 6170 c.6059G>T c.(6058-6060)AGC>ATC p.S2020I NUP214_uc004cah.2_Missense_Mutation_p.S2010I|NUP214_uc004cai.2_Missense_Mutation_p.S1450I|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S846I NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 2020 Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GCAGCTGCCAGCGCAGGAGGA 0.607 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 8 38 0.000274275 0.00032922 0.004482 1 0 TMEM8C 389827 broad.mit.edu 37 9 136384029 136384029 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:136384029G>T uc011mdk.1 - 3 366 c.366C>A c.(364-366)ATC>ATA p.I122I NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN transmembrane protein 8C 122 Helical; (Potential). integral to membrane 0 TGGCTGTGCCGATGGGGCCCG 0.612 NA 11 48 5.50884e-06 7.30846e-06 0.001368 1 0 COL5A1 1289 broad.mit.edu 37 9 137630626 137630626 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr9:137630626C>A uc004cfe.2 + 11 1848 c.1466C>A c.(1465-1467)ACT>AAT p.T489N NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 489 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATGGGTCCCACTGGCCAAGTC 0.557 NA 13 55 2.61681e-11 4.18576e-11 0.00245 1 0 ARSF 416 broad.mit.edu 37 X 3002690 3002690 + Silent SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:3002690G>T uc004cre.1 + 6 1034 c.813G>T c.(811-813)GCG>GCT p.A271A ARSF_uc004crf.1_Silent_p.A271A NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 271 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGAAGGAAGCGATTTCCTTTT 0.393 NA 9 18 5.16669e-11 8.19273e-11 0.000978 1 0 DMD 1756 broad.mit.edu 37 X 32398634 32398634 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:32398634C>G uc004dda.1 - 34 5082 c.4838G>C c.(4837-4839)TGG>TCG p.W1613S DMD_uc004dcw.2_Missense_Mutation_p.W269S|DMD_uc004dcx.2_Missense_Mutation_p.W272S|DMD_uc004dcz.2_Missense_Mutation_p.W1490S|DMD_uc004dcy.1_Missense_Mutation_p.W1609S|DMD_uc004ddb.1_Missense_Mutation_p.W1605S|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1613 Spectrin 11.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TACCTTTCCCCAGGCAACTTC 0.358 NA 15 52 0 0 0.003163 0 0 DDX3X 1654 broad.mit.edu 37 X 41203341 41203341 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:41203341C>T uc004dfe.2 + 9 1679 c.824C>T c.(823-825)ACG>ATG p.T275M DDX3X_uc010nhf.1_Missense_Mutation_p.T259M|DDX3X_uc004dff.2_Missense_Mutation_p.T275M|DDX3X_uc011mkq.1_Missense_Mutation_p.T259M|DDX3X_uc011mkr.1_Missense_Mutation_p.T275M|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 275 Necessary for interaction with XPO1.|Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TTAGCACCAACGAGAGAGTTG 0.368 NA HNSCC(61;0.18) 7 14 0 0 0.00308 0 0 ITIH5L 347365 broad.mit.edu 37 X 54783745 54783745 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:54783745G>T uc004dtj.2 - 8 2792 c.2762C>A c.(2761-2763)TCT>TAT p.S921Y NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 921 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TCCAAGGACAGAGGTGGTTGT 0.577 NA 7 20 2.0095e-06 2.73038e-06 0.001984 1 0 USP51 158880 broad.mit.edu 37 X 55513497 55513497 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:55513497C>A uc004dun.1 - 2 1955 c.1876G>T c.(1876-1878)GCC>TCC p.A626S USP51_uc011moo.1_Missense_Mutation_p.A330S NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 626 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 TTAGTAGAGGCCAAAAACGGA 0.433 NA 8 13 0.000442599 0.000527798 0.006214 1 0 MTMR8 55613 broad.mit.edu 37 X 63444307 63444307 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:63444307G>C uc011mou.1 - 11 2058 c.1990C>G c.(1990-1992)CGC>GGC p.R664G ASB12_uc004dvp.1_Missense_Mutation_p.R280G|ASB12_uc004dvq.1_Missense_Mutation_p.R289G|ASB12_uc004dvr.1_Missense_Mutation_p.R289G NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 AAGGCTCTGCGGACGACTAAA 0.493 NA 4 15 0 0 0.009096 0 0 TEX11 56159 broad.mit.edu 37 X 69828958 69828958 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:69828958T>G uc004dyl.2 - 23 2069 c.1907A>C c.(1906-1908)CAG>CCG p.Q636P TEX11_uc004dyk.2_Missense_Mutation_p.Q311P|TEX11_uc004dym.2_Missense_Mutation_p.Q621P NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 636 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) TCGAAACCACTGAGCTTCATT 0.289 NA 7 14 0 0 0.004482 0 0 P2RY10 27334 broad.mit.edu 37 X 78216858 78216859 + Missense_Mutation DNP CG CG GA TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:78216858_78216859CG>GA uc004ede.2 + 4 1210_1211 c.841_842CG>GA c.(841-843)CGA>GAA p.R281E P2RY10_uc004edf.2_Missense_Mutation_p.R281E NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 281 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TCCCGTTGTCCGAATCGCACTG 0.421 NA 26 96 0 0 0.004672 0 0 BRWD3 254065 broad.mit.edu 37 X 80001181 80001181 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:80001181G>T uc004edt.2 - 7 741 c.478C>A c.(478-480)CAT>AAT p.H160N BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_5'UTR|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 160 ovary(4) 4 GGGAAAATATGACCAAAGCGA 0.398 NA 7 27 5.18039e-06 6.91034e-06 0.00308 1 0 CYLC1 1538 broad.mit.edu 37 X 83128653 83128653 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:83128653G>T uc004eei.1 + 4 958 c.937G>T c.(937-939)GTT>TTT p.V313F CYLC1_uc004eeh.1_Missense_Mutation_p.V312F NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 313 2. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 TTCAAAGAAAGTTAAGAAAAA 0.318 NA 3 18 0.00909568 0.00987956 0.009096 1 0 CYLC1 1538 broad.mit.edu 37 X 83129210 83129211 + Missense_Mutation DNP CT CT AC TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:83129210_83129211CT>AC uc004eei.1 + 4 1515_1516 c.1494_1495CT>AC c.(1492-1497)CACTCA>CAACCA p.498_499HS>QP CYLC1_uc004eeh.1_Missense_Mutation_p.497_498HS>QP NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 498_499 7. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 ACAAGAAACACTCAAAGGAAAA 0.351 NA 6 6 0 0 0.004672 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133849 91133849 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:91133849G>T uc004efk.1 + 2 3455 c.2610G>T c.(2608-2610)AAG>AAT p.K870N PCDH11X_uc004efl.1_Missense_Mutation_p.K870N|PCDH11X_uc004efo.1_Missense_Mutation_p.K870N|PCDH11X_uc010nmv.1_Missense_Mutation_p.K870N|PCDH11X_uc004efm.1_Missense_Mutation_p.K870N|PCDH11X_uc004efn.1_Missense_Mutation_p.K870N|PCDH11X_uc004efh.1_Missense_Mutation_p.K870N|PCDH11X_uc004efj.1_Missense_Mutation_p.K870N NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 870 Cytoplasmic (Potential).|Poly-Lys. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 Tgaagaaaaagaaaaagaaga 0.378 NSCLC(38;925 1092 2571 38200 45895) NA 24 21 1.1804e-14 2.01135e-14 0.003954 1 0 PCDH11X 27328 broad.mit.edu 37 X 91134054 91134054 + Missense_Mutation SNP T T C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:91134054T>C uc004efk.1 + 2 3660 c.2815T>C c.(2815-2817)TAC>CAC p.Y939H PCDH11X_uc004efl.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efo.1_Missense_Mutation_p.Y939H|PCDH11X_uc010nmv.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efm.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efn.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efh.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efj.1_Missense_Mutation_p.Y939H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 939 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GGCCCGACACTACAAATCTGC 0.473 NSCLC(38;925 1092 2571 38200 45895) NA 49 47 0 0 0.00361 0 0 TCEAL6 158931 broad.mit.edu 37 X 101395808 101395808 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:101395808G>T uc004eiq.2 - 3 657 c.496C>A c.(496-498)CAA>AAA p.Q166K NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 ACATCTCTTTGCATCCAATGA 0.512 NA 12 40 4.14922e-12 6.81591e-12 0.004007 1 0 TCEAL3 85012 broad.mit.edu 37 X 102864488 102864488 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:102864488C>A uc004ekq.2 + 3 758 c.496C>A c.(496-498)CAA>AAA p.Q166K TCEAL3_uc004ekr.2_Missense_Mutation_p.Q166K NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TCATTGGATGCAAAGAGATGT 0.517 NA 5 121 8.12818e-05 0.000100707 0.001984 1 0 CAPN6 827 broad.mit.edu 37 X 110497517 110497517 + Missense_Mutation SNP C C T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:110497517C>T uc004epc.1 - 3 448 c.280G>A c.(280-282)GAG>AAG p.E94K CAPN6_uc011msu.1_5'UTR NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 94 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 CAATGAGACTCCTGAACAGCC 0.458 NA 23 62 0 0 0.003954 0 0 RHOXF2B 727940 broad.mit.edu 37 X 119293138 119293138 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:119293138C>A uc004esl.3 + 2 487 c.297C>A c.(295-297)GGC>GGA p.G99G NM_001099685 NP_001093155 P0C7M4 RHF2B_HUMAN Rhox homeobox family, member 2B 99 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCACCAGCGGCAGCGATGGCA 0.647 NA 6 16 3.59834e-05 4.59055e-05 0.001168 1 0 ACTRT1 139741 broad.mit.edu 37 X 127185254 127185254 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:127185254T>A uc004eum.2 - 1 1129 c.932A>T c.(931-933)GAG>GTG p.E311V NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 311 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 GAGCCTTTCCTCCAGCCCAGG 0.502 NA 16 42 0 0 0.007413 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716539 142716539 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:142716539C>A uc004fbx.2 - 2 2762 c.2386G>T c.(2386-2388)GGT>TGT p.G796C SLITRK4_uc004fby.2_Missense_Mutation_p.G796C NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 796 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGGTTGCCACCTATCAGTGAC 0.413 NA 21 78 2.37509e-13 4.00968e-13 0.010504 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905684 144905684 + Missense_Mutation SNP A A T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:144905684A>T uc004fcd.2 + 5 2731 c.1741A>T c.(1741-1743)AGC>TGC p.S581C SLITRK2_uc010nsp.2_Missense_Mutation_p.S581C|SLITRK2_uc010nso.2_Missense_Mutation_p.S581C|SLITRK2_uc011mwq.1_Missense_Mutation_p.S581C|SLITRK2_uc011mwr.1_Missense_Mutation_p.S581C|SLITRK2_uc011mws.1_Missense_Mutation_p.S581C|SLITRK2_uc004fcg.2_Missense_Mutation_p.S581C|SLITRK2_uc011mwt.1_Missense_Mutation_p.S581C NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 581 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CTGTCCAGACAGCCCAAACTT 0.473 NA 8 22 0 0 0.00308 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798362 148798362 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:148798362G>A uc004fdq.2 + 5 1318 c.1216G>A c.(1216-1218)GCC>ACC p.A406T HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.A377T NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 406 MAGE. cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CATAGCCAATGCCAATGGGAG 0.557 NA 24 97 0 0 0.004656 0 0 GPR50 9248 broad.mit.edu 37 X 150349228 150349228 + Silent SNP A A G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:150349228A>G uc010ntg.1 + 2 1308 c.1173A>G c.(1171-1173)AGA>AGG p.R391R uc004fes.1_5'Flank NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 391 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCCATTCCAGATCCTCCTCTG 0.577 NA 15 49 0 0 0.003163 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900601 151900601 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:151900601C>A uc010ntp.2 - 3 554 c.200G>T c.(199-201)GGA>GTA p.G67V MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.G67V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 67 skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGAGGCTCCCTGAGGACT 0.592 NA 25 42 9.86323e-18 1.72489e-17 0.003954 1 0 MTCP1NB 100272147 broad.mit.edu 37 X 154290188 154290188 + Missense_Mutation SNP C C G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:154290188C>G uc004fmy.2 - 3 726 c.137G>C c.(136-138)AGA>ACA p.R46T NM_001018024 NP_001018024 P56277 MTCNB_HUMAN mature T-cell proliferation 1 neighbor 46 cell proliferation mitochondrion lung(1) 1 GACGACAGATCTTCCCTTGGG 0.438 NA 3 80 0 0 0.004672 0 0 RERE 473 broad.mit.edu 37 1 8424286 8424286 + Frame_Shift_Del DEL C C - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:8424286delC uc001ape.2 - 16 2380 c.1570delG c.(1570-1572)GAGfs p.E524fs RERE_uc001apf.2_Frame_Shift_Del_p.E524fs|RERE_uc010nzx.1_Frame_Shift_Del_p.E256fs|RERE_uc001apd.2_5'UTR NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 524 GATA-type. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AGGATGTTCTCCCGGCCTCCG 0.592 NA 22 59 --- --- --- --- NA NA NA NA NA COL16A1 1307 broad.mit.edu 37 1 32155450 32155450 + Frame_Shift_Del DEL A A - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:32155450delA uc001btk.1 - 23 1877 c.1512delT c.(1510-1512)GGTfs p.G504fs COL16A1_uc001btj.1_Frame_Shift_Del_p.G333fs|COL16A1_uc001btl.3_Frame_Shift_Del_p.G504fs NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 504 Triple-helical region 9 (COL9) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CACAGGGGTCACCCTAGCAGA 0.597 Colon(143;498 1786 21362 25193 36625) NA 8 42 --- --- --- --- NA NA NA NA NA LCE2B 26239 broad.mit.edu 37 1 152659518 152659518 + Frame_Shift_Del DEL G G - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:152659518delG uc001fai.2 + 2 253 c.199delG c.(199-201)GGGfs p.G67fs NM_014357 NP_055172 O14633 LCE2B_HUMAN late cornified envelope 2B 67 Cys-rich. keratinization ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCAACTCTGGGGCTGGTGG 0.672 NA 20 238 --- --- --- --- NA NA NA NA NA RNASEL 6041 broad.mit.edu 37 1 182554909 182554909 + Frame_Shift_Del DEL C C - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:182554909delC uc001gpj.1 - 1 1200 c.1033delG c.(1033-1035)GCAfs p.A345fs RNASEL_uc009wxz.1_Frame_Shift_Del_p.A345fs|RNASEL_uc001gpk.2_Frame_Shift_Del_p.A345fs|RNASEL_uc009wya.1_Frame_Shift_Del_p.A345fs NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 345 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TTCAGGGCTGCCCCCCAGTGT 0.453 NA Hereditary_Prostate_Cancer 7 65 --- --- --- --- NA NA NA NA NA PSEN2 5664 broad.mit.edu 37 1 227081775 227081775 + Frame_Shift_Del DEL G G - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr1:227081775delG uc009xeo.1 + 12 1567 c.1140delG c.(1138-1140)ACGfs p.T380fs CABC1_uc001hqm.1_5'Flank|PSEN2_uc009xep.1_Frame_Shift_Del_p.T379fs|PSEN2_uc001hqk.2_RNA|uc001hql.1_5'Flank NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 380 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) CGGCTGCCACGGGCAGCGGGG 0.642 NA 12 58 --- --- --- --- NA NA NA NA NA TPH1 7166 broad.mit.edu 37 11 18050811 18050811 + Frame_Shift_Del DEL A A - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:18050811delA uc001mnp.2 - 5 594 c.568delT c.(568-570)TGCfs p.C190fs TPH1_uc009yhe.2_Intron NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 190 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TACTCTCTGCAAGCATGGGTT 0.413 NA 47 370 --- --- --- --- NA NA NA NA NA OR10G8 219869 broad.mit.edu 37 11 123900397 123900397 + Frame_Shift_Del DEL C C - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr11:123900397delC uc001pzp.1 + 1 68 c.68delC c.(67-69)GCCfs p.A23fs NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 23 Extracellular (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) GCGCTGGACGCCCCCCTCTTT 0.592 NA 49 155 --- --- --- --- NA NA NA NA NA SYNE2 23224 broad.mit.edu 37 14 64516501 64516501 + Frame_Shift_Del DEL G G - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr14:64516501delG uc001xgm.2 + 47 7780 c.7550delG c.(7549-7551)AGCfs p.S2517fs SYNE2_uc001xgl.2_Frame_Shift_Del_p.S2517fs NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2517 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) AACAAAGAAAGCCAATATTGT 0.393 NA 7 67 --- --- --- --- NA NA NA NA NA KIF2B 84643 broad.mit.edu 37 17 51902186 51902187 + Frame_Shift_Ins INS - - T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr17:51902186_51902187insT uc002iua.2 + 1 1948_1949 c.1792_1793insT c.(1792-1794)GTTfs p.V598fs uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 598 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 GATTGAAGAGGTTGAAACATTA 0.421 NA 48 103 --- --- --- --- NA NA NA NA NA ANO7 50636 broad.mit.edu 37 2 242128053 242128053 + Frame_Shift_Del DEL G G - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr2:242128053delG uc002wax.2 + 1 130 c.27delG c.(25-27)GCGfs p.A9fs ANO7_uc002waw.2_Frame_Shift_Del_p.A9fs NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 9 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CTGCCTGGGCGGGGCTCCAAG 0.687 NA 24 39 --- --- --- --- NA NA NA NA NA CNTN4 152330 broad.mit.edu 37 3 2777972 2777973 + Frame_Shift_Ins INS - - A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr3:2777972_2777973insA uc003bpc.2 + 4 350_351 c.129_130insA c.(127-132)GAGAAAfs p.E43fs CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Frame_Shift_Ins_p.E43fs NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 43_44 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATTCTGAGGAGAAAAAAGTGAA 0.361 NA 37 157 --- --- --- --- NA NA NA NA NA CSN1S1 1446 broad.mit.edu 37 4 70810648 70810648 + Frame_Shift_Del DEL C C - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:70810648delC uc003hep.1 + 15 532 c.483delC c.(481-483)TTCfs p.F161fs CSN1S1_uc003heq.1_Frame_Shift_Del_p.F152fs|CSN1S1_uc003her.1_Frame_Shift_Del_p.F153fs NM_001890 NP_001881 P47710 CASA1_HUMAN casein alpha s1 isoform 1 161 extracellular region protein binding|transporter activity 0 ATGTTCCTTTCCCACCGTTTT 0.408 NA 39 261 --- --- --- --- NA NA NA NA NA NDST3 9348 broad.mit.edu 37 4 119145679 119145679 + Frame_Shift_Del DEL G G - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr4:119145679delG uc003ibx.2 + 7 1976 c.1573delG c.(1573-1575)GGGfs p.G525fs NDST3_uc011cgf.1_Frame_Shift_Del_p.G444fs NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 525 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 GTCCAACTATGGGAATGACCG 0.408 NA 11 158 --- --- --- --- NA NA NA NA NA DNAH8 1769 broad.mit.edu 37 6 38820518 38820518 + Frame_Shift_Del DEL G G - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:38820518delG uc003ooe.1 + 38 5464 c.4864delG c.(4864-4866)GCAfs p.A1622fs 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 GACATTTCATGCAAAAGACTA 0.383 NA 30 88 --- --- --- --- NA NA NA NA NA MAD2L1BP 9587 broad.mit.edu 37 6 43604373 43604375 + In_Frame_Del DEL CTT CTT - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 CTT CTT - - CTT CTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr6:43604373_43604375delCTT uc003ovv.2 + 2 338_340 c.302_304delCTT c.(301-306)CCTTCT>CCT p.S102del MAD2L1BP_uc003ovu.2_In_Frame_Del_p.S134del NM_014628 NP_055443 Q15013 MD2BP_HUMAN MAD2L1 binding protein isoform 2 102 mitotic cell cycle checkpoint|regulation of exit from mitosis cytoplasm|nucleus|spindle protein binding 0 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TACCGAAAACCTTCTCCCCAGGT 0.483 NA 13 97 --- --- --- --- NA NA NA NA NA ZNF479 90827 broad.mit.edu 37 7 57188660 57188661 + Frame_Shift_Ins INS - - T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:57188660_57188661insT uc010kzo.2 - 5 732_733 c.461_462insA c.(460-462)AACfs p.N154fs NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) GAAATATTTTGTTTTGGGTAGT 0.292 NA 10 119 --- --- --- --- NA NA NA NA NA ZNF735 730291 broad.mit.edu 37 7 63679724 63679724 + Frame_Shift_Del DEL C C - TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr7:63679724delC uc011kdn.1 + 4 295 c.295delC c.(295-297)CCAfs p.P99fs NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGACCTTCAGCCAGAGCAGAG 0.313 NA 17 229 --- --- --- --- NA NA NA NA NA RIMS2 9699 broad.mit.edu 37 8 104987714 104987715 + Frame_Shift_Ins INS - - A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr8:104987714_104987715insA uc003yls.2 + 14 2482_2483 c.2241_2242insA c.(2239-2244)CCCAGTfs p.P747fs RIMS2_uc003ylp.2_Frame_Shift_Ins_p.P969fs|RIMS2_uc003ylw.2_Frame_Shift_Ins_p.P761fs|RIMS2_uc003ylq.2_Frame_Shift_Ins_p.P761fs|RIMS2_uc003ylr.2_Frame_Shift_Ins_p.P808fs|RIMS2_uc003ylt.2_Frame_Shift_Ins_p.P354fs NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1031_1032 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CATGGTCACCCAGTGTCCCTCC 0.337 NA HNSCC(12;0.0054) 12 51 --- --- --- --- NA NA NA NA NA KLHL4 56062 broad.mit.edu 37 X 86890577 86890578 + Frame_Shift_Ins INS - - T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chrX:86890577_86890578insT uc004efb.2 + 9 1909_1910 c.1727_1728insT c.(1726-1728)GGTfs p.G576fs KLHL4_uc004efa.2_Frame_Shift_Ins_p.G576fs NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 576 Kelch 4. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TATGCTATTGGTGGACGTGATG 0.391 NA 13 18 --- --- --- --- NA NA NA NA NA KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1 90712f33-34db-4346-ab22-59c1a11ebe99 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 23 NA NA NA NA 1 1 0.00308 1 1