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 KIAA1751 85452 broad.mit.edu 37 1 1920356 1920356 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:1920356C>T uc001aim.1 - 3 280 c.124G>A c.(124-126)GAG>AAG p.E42K KIAA1751_uc009vkz.1_Missense_Mutation_p.E42K|KIAA1751_uc001ain.1_Missense_Mutation_p.E42K NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 42 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) ACGTCATCCTCAGCTTCCTGT 0.303 NA 12 55 0 0 0.00499 0 0 ID3 3399 broad.mit.edu 37 1 23885762 23885762 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:23885762C>T uc001bhh.3 - 1 561 c.156G>A c.(154-156)CGG>CGA p.R52R ID3_uc001bhg.1_Silent_p.R52R NM_002167 NP_002158 Q02535 ID3_HUMAN inhibitor of DNA binding 3 52 Helix-loop-helix motif. negative regulation of sequence-specific DNA binding transcription factor activity transcription corepressor activity central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GTACCAGTTCCCGCAGGCGGG 0.642 NA 32 145 0 0 0.004289 0 0 TSSK3 81629 broad.mit.edu 37 1 32829545 32829545 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:32829545G>C uc001bvf.2 + 2 936 c.495G>C c.(493-495)CTG>CTC p.L165L uc001bve.1_5'Flank NM_052841 NP_443073 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 165 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) ACCGGGAGCTGAGCCAGACCT 0.572 NA 54 102 0 0 0.01441 0 0 PIK3R3 8503 broad.mit.edu 37 1 46511639 46511639 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:46511639A>G uc001cpb.3 - 9 1894 c.1138T>C c.(1138-1140)TTC>CTC p.F380L PIK3R3_uc009vyb.2_Missense_Mutation_p.F321L|PIK3R3_uc009vyc.2_Missense_Mutation_p.F397L|PIK3R3_uc001cpc.3_Missense_Mutation_p.F380L|PIK3R3_uc010olw.1_Missense_Mutation_p.F426L|PIK3R3_uc010olv.1_Missense_Mutation_p.F170L NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 380 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) CGAATTAAGAATGCACCATCA 0.398 NA 30 132 0 0 0.013726 0 0 C1orf175 374977 broad.mit.edu 37 1 55175634 55175634 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:55175634G>A uc010ooe.1 + 24 4070 c.3746G>A c.(3745-3747)AGA>AAA p.R1249K C1orf175_uc001cxq.2_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.R767K|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.R450K NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 1249 integral to membrane binding 0 GATAACTTGAGACATGACCCA 0.517 NA 25 116 0 0 0.00632 0 0 SFRS11 9295 broad.mit.edu 37 1 70687463 70687463 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:70687463G>C uc001des.2 + 2 268 c.144G>C c.(142-144)CAG>CAC p.Q48H SFRS11_uc009wbi.2_Missense_Mutation_p.Q48H|SFRS11_uc009wbj.1_Missense_Mutation_p.Q48H|SFRS11_uc010oqo.1_Missense_Mutation_p.Q48H|SFRS11_uc001det.2_Missense_Mutation_p.Q48H|SFRS11_uc001deu.2_Missense_Mutation_p.Q48H NM_004768 NP_004759 Q05519 SRS11_HUMAN splicing factor, arginine/serine-rich 11 48 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 GCTCTGAGCAGATGCGGACTC 0.493 NA 100 109 0 0 0.01441 0 0 TNNI3K 51086 broad.mit.edu 37 1 74957833 74957833 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:74957833C>A uc001dgf.1 + 23 2285 c.2234C>A c.(2233-2235)TCT>TAT p.S745Y TNNI3K_uc001dge.1_Missense_Mutation_p.S846Y NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 745 Poly-Ser. 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 CCTTCTTCTTCTTCTGATTGC 0.478 NA 63 281 1.31171e-36 1.65485e-36 0.01441 1 0 LHX8 431707 broad.mit.edu 37 1 75608822 75608822 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:75608822T>G uc001dgo.2 + 6 1073 c.409T>G c.(409-411)TCT>GCT p.S137A LHX8_uc001dgq.2_Missense_Mutation_p.S76A NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 137 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S137F(1) ovary(3) 3 AACTCGCTGCTCTCGATGTGG 0.443 NA 17 61 0 0 0.010504 0 0 CLCA2 9635 broad.mit.edu 37 1 86900422 86900422 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:86900422G>T uc001dlr.3 + 6 1128 c.966G>T c.(964-966)ATG>ATT p.M322I NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 322 VWFA.|Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CCAGCAAGATGGCAGAGGTAA 0.343 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 5 131 0.000602214 0.000620904 0.000602 1 0 CLCA4 22802 broad.mit.edu 37 1 87045236 87045236 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:87045236G>C uc009wcs.2 + 13 2366 c.2322G>C c.(2320-2322)TGG>TGC p.W774C CLCA4_uc009wct.2_Missense_Mutation_p.W537C|CLCA4_uc009wcu.2_Missense_Mutation_p.W594C NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 774 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTCTTACATGGACAGCACCAG 0.408 NA 47 74 0 0 0.01441 0 0 S1PR1 1901 broad.mit.edu 37 1 101705580 101705580 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:101705580G>T uc001dud.2 + 2 1554 c.1040G>T c.(1039-1041)GGC>GTC p.G347V S1PR1_uc009weg.2_Missense_Mutation_p.G347V NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 347 Cytoplasmic (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 ATCATCGCCGGCATGGAATTC 0.552 NA 61 242 1.82294e-38 2.30957e-38 0.01441 1 0 COL11A1 1301 broad.mit.edu 37 1 103364245 103364245 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:103364245G>A uc001dul.2 - 56 4543 c.4225C>T c.(4225-4227)CTT>TTT p.L1409F COL11A1_uc001duk.2_Missense_Mutation_p.L605F|COL11A1_uc001dum.2_Missense_Mutation_p.L1421F|COL11A1_uc001dun.2_Missense_Mutation_p.L1370F|COL11A1_uc009weh.2_Missense_Mutation_p.L1293F NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1409 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) ATGCCCCGAAGACCTTCTGGA 0.448 NA 43 69 0 0 0.01441 0 0 RBM15 64783 broad.mit.edu 37 1 110882847 110882847 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:110882847G>A uc001dzl.1 + 1 903 c.820G>A c.(820-822)GGG>AGG p.G274R RBM15_uc001dzm.1_Missense_Mutation_p.G274R|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 274 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGTGTGGTCGGGGCCTCTGT 0.597 NA T MKL1 acute megakaryocytic leukemia 54 178 0 0 0.01441 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944871 117944871 + Silent SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:117944871A>C uc001ehd.1 + 2 1087 c.366A>C c.(364-366)GCA>GCC p.A122A MAN1A2_uc009whg.1_Intron NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 122 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGGAAGAAGCAAAAGAAAAAT 0.373 Ovarian(33;199 881 8228 13687 31538) NA 10 34 0 0 0.006214 0 0 FLG 2312 broad.mit.edu 37 1 152284211 152284211 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:152284211G>A uc001ezu.1 - 3 3187 c.3151C>T c.(3151-3153)CGC>TGC p.R1051C uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1051 Filaggrin 6.|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) GCTTGTCTGCGCGGAATGCCT 0.562 NA Ichthyosis 338 489 0 0 0.01441 0 0 KPRP 448834 broad.mit.edu 37 1 152733114 152733114 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:152733114C>G uc001fal.1 + 2 1108 c.1050C>G c.(1048-1050)ATC>ATG p.I350M NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 350 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) TTCCTCCCATCAGACGCCGCT 0.652 NA 35 100 0 0 0.004878 0 0 DCST1 149095 broad.mit.edu 37 1 155015885 155015885 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:155015885G>A uc001fgn.1 + 10 1168 c.1072G>A c.(1072-1074)GAG>AAG p.E358K DCST1_uc010per.1_Missense_Mutation_p.E383K|DCST1_uc010pes.1_Missense_Mutation_p.E333K NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 358 Extracellular (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CGTGAGCACCGAGGTGCGGGA 0.667 NA 27 109 0 0 0.00632 0 0 PIGM 93183 broad.mit.edu 37 1 160001137 160001137 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:160001137C>G uc001fuv.1 - 1 647 c.393G>C c.(391-393)TGG>TGC p.W131C NM_145167 NP_660150 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, 131 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTTAAGAAGCCAAAAGACAC 0.562 NA 12 22 0 0 0.004007 0 0 FMO3 2328 broad.mit.edu 37 1 171083381 171083381 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:171083381A>C uc001ghi.2 + 7 1173 c.1062A>C c.(1060-1062)AAA>AAC p.K354N FMO3_uc001ghh.2_Missense_Mutation_p.K354N|FMO3_uc010pmb.1_Missense_Mutation_p.K334N|FMO3_uc010pmc.1_Missense_Mutation_p.K291N NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 354 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTATTTAAAGGAGTATTTC 0.443 NA 26 81 0 0 0.003954 0 0 TNN 63923 broad.mit.edu 37 1 175049473 175049473 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:175049473G>T uc001gkl.1 + 4 1072 c.959G>T c.(958-960)GGT>GTT p.G320V TNN_uc010pmx.1_Missense_Mutation_p.G320V NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 320 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGATTCTTGGTTTGCTGCCT 0.537 NA 39 136 2.40579e-17 2.79896e-17 0.00623 1 0 NFASC 23114 broad.mit.edu 37 1 204948557 204948557 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:204948557C>A uc001hbj.2 + 19 2374 c.2046C>A c.(2044-2046)CCC>CCA p.P682P NFASC_uc010pra.1_Silent_p.P678P|NFASC_uc001hbi.2_Silent_p.P678P|NFASC_uc010prb.1_Silent_p.P693P|NFASC_uc010prc.1_Silent_p.P249P|NFASC_uc001hbk.1_Silent_p.P488P|NFASC_uc001hbl.1_5'Flank NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 682 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAAGTACCCCGGCAGCGTTA 0.572 NA 44 216 5.78141e-17 6.70017e-17 0.013114 1 0 EPRS 2058 broad.mit.edu 37 1 220156531 220156531 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:220156531C>T uc001hly.1 - 22 3570 c.3300G>A c.(3298-3300)GAG>GAA p.E1100E NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1100 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GCTCACTTACCTCTGGGGCAA 0.343 NA 46 54 0 0 0.013114 0 0 EPRS 2058 broad.mit.edu 37 1 220170591 220170591 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:220170591C>A uc001hly.1 - 18 2545 c.2275G>T c.(2275-2277)GTT>TTT p.V759F EPRS_uc010puf.1_Missense_Mutation_p.V510F|EPRS_uc001hlz.1_Missense_Mutation_p.V766F NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 759 WHEP-TRS 1.|Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TCTCCTTGAACAGCCACTCTA 0.388 NA 34 36 3.90053e-15 4.45136e-15 0.012213 1 0 TP53BP2 7159 broad.mit.edu 37 1 223971971 223971971 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:223971971G>C uc010pvb.1 - 17 3501 c.3209C>G c.(3208-3210)GCG>GGG p.A1070G TP53BP2_uc001hod.2_Missense_Mutation_p.A941G|TP53BP2_uc010puz.1_Missense_Mutation_p.A303G|TP53BP2_uc010pva.1_Missense_Mutation_p.A709G NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 1064 Mediates interaction with APC2.|SH3. apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) ATCCCAAAGCGCATAAATGAC 0.403 NA 3 120 0 0 0.004672 0 0 URB2 9816 broad.mit.edu 37 1 229794951 229794952 + Missense_Mutation DNP GC GC AT TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:229794951_229794952GC>AT uc001hts.1 + 10 4618_4619 c.4482_4483GC>AT c.(4480-4485)CAGCCG>CAATCG p.P1495S URB2_uc009xfd.1_Missense_Mutation_p.P1495S NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1495 nucleolus central_nervous_system(2)|ovary(1) 3 CCTCGCTGCAGCCGGGAATGAG 0.505 NA 6 331 0 0 0.004672 0 0 PCNXL2 80003 broad.mit.edu 37 1 233134066 233134066 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:233134066T>C uc001hvl.2 - 32 5957 c.5722A>G c.(5722-5724)AGC>GGC p.S1908G PCNXL2_uc001hvk.1_Missense_Mutation_p.S560G|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1908 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TGTTCTGCGCTGCTCTCCTGG 0.632 NA 12 56 0 0 0.010729 0 0 NID1 4811 broad.mit.edu 37 1 236205495 236205495 + Nonsense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:236205495C>A uc001hxo.2 - 4 952 c.850G>T c.(850-852)GAA>TAA p.E284* NID1_uc009xgd.2_Nonsense_Mutation_p.E284* NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 284 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCCCCATCTTCAGTTCCGAGG 0.567 NA 101 381 1.09905e-38 1.39836e-38 0.01441 1 0 RYR2 6262 broad.mit.edu 37 1 237995884 237995884 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:237995884G>T uc001hyl.1 + 105 14961 c.14841G>T c.(14839-14841)AGG>AGT p.R4947S RYR2_uc010pyb.1_3'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4947 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) ATCAAGAAAGGTGTTGGGAAT 0.388 NA 17 21 8.34094e-07 8.75067e-07 0.008871 1 0 CUBN 8029 broad.mit.edu 37 10 16982170 16982170 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:16982170G>A uc001ioo.2 - 37 5461 c.5409C>T c.(5407-5409)GCC>GCT p.A1803A NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1803 CUB 12. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGTGACCCGTGGCATTTCCTT 0.438 NA 79 304 0 0 0.01441 0 0 NSUN6 221078 broad.mit.edu 37 10 18937479 18937479 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:18937479C>T uc010qcp.1 - 2 589 c.171G>A c.(169-171)GTG>GTA p.V57V NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 57 methyltransferase activity|RNA binding ovary(2) 2 AATGTGTATTCACTCTGACAG 0.338 NA 11 51 0 0 0.010729 0 0 MAPK8 5599 broad.mit.edu 37 10 49642948 49642948 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:49642948C>G uc009xnz.2 + 12 1384 c.1160C>G c.(1159-1161)TCT>TGT p.S387C MAPK8_uc001jgl.2_3'UTR|MAPK8_uc001jgm.2_Missense_Mutation_p.S387C|MAPK8_uc001jgo.2_3'UTR|MAPK8_uc009xoa.2_3'UTR|MAPK8_uc001jgn.2_Missense_Mutation_p.S387C|MAPK8_uc010qgk.1_3'UTR|MAPK8_uc001jgp.2_Missense_Mutation_p.S387C|MAPK8_uc001jgq.2_3'UTR NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 387 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) ATCAATGGCTCTCAGCATCCA 0.483 NA 47 131 0 0 0.011902 0 0 HHEX 3087 broad.mit.edu 37 10 94452138 94452138 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:94452138C>G uc001kid.2 + 2 438 c.375C>G c.(373-375)CTC>CTG p.L125L NM_002729 NP_002720 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 125 Pro-rich. anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding ovary(1) 1 AACCTCTACTCTGGAGCCCCT 0.617 NA 64 84 0 0 0.01441 0 0 HHEX 3087 broad.mit.edu 37 10 94452163 94452163 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:94452163C>G uc001kid.2 + 2 463 c.400C>G c.(400-402)CTG>GTG p.L134V NM_002729 NP_002720 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 134 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding ovary(1) 1 GCAGAGGCCTCTGCATAAAAG 0.602 NA 65 80 0 0 0.01441 0 0 LGI1 9211 broad.mit.edu 37 10 95549856 95549856 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:95549856G>T uc001kjc.3 + 5 768 c.432G>T c.(430-432)TTG>TTT p.L144F LGI1_uc010qnv.1_Missense_Mutation_p.L96F|LGI1_uc001kjd.3_Missense_Mutation_p.L144F|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 144 LRR 3. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) TTTTTTCCAGGAGCCTTGCAA 0.338 NA 9 33 2.17888e-05 2.26998e-05 0.006214 1 0 SORCS1 114815 broad.mit.edu 37 10 108434855 108434855 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:108434855A>C uc001kym.2 - 14 1900 c.1892T>G c.(1891-1893)TTT>TGT p.F631C SORCS1_uc001kyl.2_Missense_Mutation_p.F631C|SORCS1_uc009xxs.2_Missense_Mutation_p.F631C|SORCS1_uc001kyn.1_Missense_Mutation_p.F631C|SORCS1_uc001kyo.2_Missense_Mutation_p.F631C NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 631 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) CCCATCCACAAAAAGTGGAAT 0.398 NA 49 78 0 0 0.01441 0 0 KCNK18 338567 broad.mit.edu 37 10 118969302 118969302 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:118969302C>A uc010qsr.1 + 3 647 c.647C>A c.(646-648)ACA>AAA p.T216K NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 216 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) AAACTTGGCACATGTCCTTCA 0.527 NA 48 130 3.16986e-14 3.57656e-14 0.01441 1 0 PDZD8 118987 broad.mit.edu 37 10 119043731 119043731 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:119043731T>G uc001lde.1 - 5 2712 c.2513A>C c.(2512-2514)GAA>GCA p.E838A NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 838 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GTGTTTGTTTTCTGTTAAACC 0.383 NA 38 77 0 0 0.004289 0 0 CTBP2 1488 broad.mit.edu 37 10 126683170 126683170 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:126683170C>A uc009yak.2 - 7 935 c.648G>T c.(646-648)GGG>GGT p.G216G CTBP2_uc009yal.2_Silent_p.G216G|CTBP2_uc001lif.3_Silent_p.G216G|CTBP2_uc001lih.3_Silent_p.G216G|CTBP2_uc001lid.3_Silent_p.G284G|CTBP2_uc001lie.3_Silent_p.G756G NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 216 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) ACCGCTCGATCCCATCCTGCA 0.557 NA 21 136 3.01185e-09 3.25106e-09 0.003954 1 0 EBF3 253738 broad.mit.edu 37 10 131646712 131646712 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:131646712G>A uc001lki.1 - 11 1104 c.1045C>T c.(1045-1047)CAG>TAG p.Q349* NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 358 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGCAACCTCTGAAAGCCGTAA 0.468 NA 53 191 0 0 0.01441 0 0 GPR123 84435 broad.mit.edu 37 10 134896297 134896297 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:134896297G>A uc001llw.2 + 7 1309 c.1309G>A c.(1309-1311)GTG>ATG p.V437M Q86SQ6 GP123_HUMAN RecName: Full=Probable G-protein coupled receptor 123; Error:Variant_position_missing_in_Q86SQ6_after_alignment integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCCTGGATGCGTGTGCCAGGG 0.672 NA 8 28 0 0 0.004482 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444131 5444131 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:5444131C>A uc010qzd.1 + 1 701 c.701C>A c.(700-702)GCT>GAT p.A234D HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 234 Cytoplasmic (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;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCACCTGGGCTGAGCGACTC 0.483 NA 96 131 1.69331e-39 2.16368e-39 0.01441 1 0 OR56A3 390083 broad.mit.edu 37 11 5969183 5969183 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:5969183C>A uc010qzt.1 + 1 607 c.607C>A c.(607-609)CAA>AAA p.Q203K NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 203 Helical; Name=5; (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) TCACCTTTACCAATTTGCTGG 0.478 NA 31 210 4.74835e-14 5.33744e-14 0.010818 1 0 USP47 55031 broad.mit.edu 37 11 11941942 11941942 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:11941942C>T uc001mjq.1 + 11 1942 c.1179C>T c.(1177-1179)TTC>TTT p.F393F USP47_uc001mjr.2_Silent_p.F305F|USP47_uc001mjs.2_Silent_p.F373F NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 393 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) TGAAAAGATTCGATTTTGATT 0.358 NA 16 59 0 0 0.00499 0 0 LDHC 3948 broad.mit.edu 37 11 18456297 18456297 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:18456297G>C uc001mon.3 + 5 541 c.429G>C c.(427-429)TTG>TTC p.L143F LDHC_uc001mom.3_Missense_Mutation_p.L143F|LDHC_uc009yhp.2_Missense_Mutation_p.L143F|LDHC_uc001moo.3_Missense_Mutation_p.L27F|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Missense_Mutation_p.L27F NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 143 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) TGGATATTTTGACATATATAG 0.308 NA 29 152 0 0 0.012213 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077532 19077532 + Missense_Mutation SNP G G A rs60756581 byFrequency TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:19077532G>A uc001mph.2 - 2 506 c.418C>T c.(418-420)CGC>TGC p.R140C NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 140 Cytoplasmic (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 CTGGGGCGGCGGCAGCGATAC 0.607 GBM(198;1966 2199 4849 37227 49954) NA 22 91 0 0 0.00333 0 0 LUZP2 338645 broad.mit.edu 37 11 25004819 25004819 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:25004819G>T uc001mqs.2 + 9 979 c.745G>T c.(745-747)GAT>TAT p.D249Y LUZP2_uc009yif.2_Missense_Mutation_p.D163Y|LUZP2_uc009yig.2_Missense_Mutation_p.D207Y NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 249 extracellular region ovary(1)|skin(1) 2 TAAGCTTCCAGATGCAGCGGC 0.428 NA 14 77 8.60227e-14 9.59731e-14 0.004007 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136580 40136580 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:40136580T>A uc001mxa.1 - 2 3227 c.1263A>T c.(1261-1263)ACA>ACT p.T421T LRRC4C_uc001mxc.1_Silent_p.T417T|LRRC4C_uc001mxd.1_Silent_p.T417T|LRRC4C_uc001mxb.1_Silent_p.T417T NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 421 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TGTACATGCCTGTATCTTGCA 0.438 NA 91 224 0 0 0.01441 0 0 OR4C3 256144 broad.mit.edu 37 11 48346987 48346987 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:48346987C>G uc010rhv.1 + 1 495 c.495C>G c.(493-495)CTC>CTG p.L165L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 138 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CCAGGCATCTCTGTGCCATGC 0.537 NA 81 152 0 0 0.01441 0 0 OR4C11 219429 broad.mit.edu 37 11 55371624 55371624 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:55371624C>A uc010rii.1 - 1 226 c.226G>T c.(226-228)GCC>TCC p.A76S NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AATCTAGGGGCTGTGGAAGTT 0.398 NA 36 20 6.90743e-12 7.53767e-12 0.003755 1 0 OR5L2 26338 broad.mit.edu 37 11 55595383 55595383 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:55595383C>A uc001nhy.1 + 1 689 c.689C>A c.(688-690)TCT>TAT p.S230Y NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) AAGATACACTCTGCAGAGAGC 0.493 NA HNSCC(27;0.073) 59 126 1.67886e-27 2.06576e-27 0.01441 1 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080108 57080108 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:57080108A>G uc001njr.2 - 4 2366 c.2054T>C c.(2053-2055)CTG>CCG p.L685P TNKS1BP1_uc001njs.2_Missense_Mutation_p.L685P|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.L136P NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 685 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GAGGTCGTCCAGCCAGCGGGA 0.647 NA 47 78 0 0 0.01441 0 0 MS4A15 219995 broad.mit.edu 37 11 60543133 60543133 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:60543133C>T uc009ynf.1 + 7 888 c.668C>T c.(667-669)GCA>GTA p.A223V MS4A15_uc001npx.2_Missense_Mutation_p.A130V|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.A182V NM_001098835 NP_001092305 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 223 integral to membrane receptor activity lung(1) 1 CCCAGCCCGGCAGCCTCTGCG 0.587 NA OREG0020991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 204 0 0 0.01441 0 0 PLCB3 5331 broad.mit.edu 37 11 64029532 64029532 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:64029532C>T uc001nzb.2 + 17 2022 c.2022C>T c.(2020-2022)CTC>CTT p.L674L PLCB3_uc009ypg.1_Silent_p.L674L|PLCB3_uc009yph.1_Silent_p.L607L|PLCB3_uc009ypi.2_Silent_p.L674L NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 674 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 TTGTTGCGCTCAACTTCCAGA 0.607 NA 37 88 0 0 0.006999 0 0 C11orf2 738 broad.mit.edu 37 11 64875899 64875899 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:64875899C>T uc001ocr.1 + 5 996 c.956C>T c.(955-957)GCG>GTG p.A319V C11orf2_uc001ocs.1_Missense_Mutation_p.A195V NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 319 lipid transport|protein transport Golgi apparatus|integral to membrane 0 TGCCAGGTGGCGGCGGCCTAC 0.697 NA 3 47 0 0 0.009096 0 0 SPDYC 387778 broad.mit.edu 37 11 64940248 64940248 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:64940248C>T uc010rnz.1 + 6 610 c.610C>T c.(610-612)CGC>TGC p.R204C NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 204 cell cycle nucleus protein kinase binding 0 GGTCCCTGTTCGCCTTCCCCG 0.652 NA 54 87 0 0 0.01441 0 0 LTBP3 4054 broad.mit.edu 37 11 65318931 65318931 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:65318931C>G uc001oej.2 - 10 1832 c.1563G>C c.(1561-1563)GAG>GAC p.E521D LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Missense_Mutation_p.E404D|LTBP3_uc001oei.2_Missense_Mutation_p.E521D|LTBP3_uc010roj.1_Missense_Mutation_p.E222D|LTBP3_uc010rok.1_Missense_Mutation_p.E432D NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 521 extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 GCACTGACCTCTCCTCACTCA 0.637 NA 25 79 0 0 0.005443 0 0 GPR152 390212 broad.mit.edu 37 11 67219321 67219321 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:67219321G>T uc001olm.2 - 1 880 c.875C>A c.(874-876)CCC>CAC p.P292H uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 292 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCAGAGGAAGGGGCTGAGGCA 0.652 Pancreas(102;800 1581 2723 7382 33622) NA 27 88 9.58827e-17 1.10691e-16 0.01441 1 0 LRP5 4041 broad.mit.edu 37 11 68115636 68115636 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:68115636A>G uc001ont.2 + 2 488 c.413A>G c.(412-414)AAT>AGT p.N138S LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 138 Beta-propeller 1.|LDL-receptor class B 2.|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 GCCAACCTCAATGGCACATCC 0.647 NA 112 190 0 0 0.01441 0 0 C11orf30 56946 broad.mit.edu 37 11 76227233 76227233 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:76227233C>T uc001oxl.2 + 11 1704 c.1561C>T c.(1561-1563)CGG>TGG p.R521W C11orf30_uc001oxm.2_Missense_Mutation_p.R437W|C11orf30_uc010rsb.1_Missense_Mutation_p.R536W|C11orf30_uc010rsc.1_Missense_Mutation_p.R536W|C11orf30_uc001oxn.2_Missense_Mutation_p.R522W|C11orf30_uc010rsd.1_Missense_Mutation_p.R535W NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 521 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 ATCCATTGGTCGGATGGCTGC 0.473 NA 37 128 0 0 0.004878 0 0 MYO7A 4647 broad.mit.edu 37 11 76871264 76871264 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:76871264G>C uc001oyb.2 + 11 1408 c.1136G>C c.(1135-1137)GGG>GCG p.G379A MYO7A_uc010rsl.1_Missense_Mutation_p.G379A|MYO7A_uc010rsm.1_Missense_Mutation_p.G368A|MYO7A_uc001oyc.2_Missense_Mutation_p.G379A NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 379 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 ATCACCCGCGGGGAGACGGTG 0.667 NA 5 4 0 0 0.000602 0 0 ODZ4 26011 broad.mit.edu 37 11 78399268 78399268 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:78399268G>A uc001ozl.3 - 29 5554 c.5091C>T c.(5089-5091)TAC>TAT p.Y1697Y ODZ4_uc009yvb.1_Silent_p.Y281Y NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1697 YD 4.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CAAAGCTGTCGTACCTGGAAA 0.502 NA 108 225 0 0 0.01441 0 0 CEP57 9702 broad.mit.edu 37 11 95546154 95546154 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:95546154G>C uc001pfp.1 + 3 482 c.261G>C c.(259-261)AGG>AGC p.R87S CEP57_uc001pfo.1_Missense_Mutation_p.R87S|CEP57_uc010ruh.1_Missense_Mutation_p.R78S|CEP57_uc010rui.1_Missense_Mutation_p.R87S|CEP57_uc009ywn.1_5'UTR|CEP57_uc001pfq.1_Missense_Mutation_p.R87S|CEP57_uc001pfr.1_5'UTR NM_014679 NP_055494 Q86XR8 CEP57_HUMAN translokin 87 Potential.|centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AACTTGAGAGGATTCAGGCAG 0.368 NA Mosaic_Variegated_Aneuploidy_Syndrome 26 124 0 0 0.00333 0 0 EXPH5 23086 broad.mit.edu 37 11 108380461 108380461 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:108380461C>T uc001pkk.2 - 6 5884 c.5773G>A c.(5773-5775)GAT>AAT p.D1925N EXPH5_uc010rvy.1_Missense_Mutation_p.D1737N|EXPH5_uc010rvz.1_Missense_Mutation_p.D1769N|EXPH5_uc010rwa.1_Missense_Mutation_p.D1849N NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1925 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCTCAAATCATCTTTTAGG 0.408 NA 47 64 0 0 0.010771 0 0 DRD2 1813 broad.mit.edu 37 11 113286252 113286252 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:113286252G>T uc001pnz.2 - 4 935 c.614C>A c.(613-615)ACC>AAC p.T205N DRD2_uc010rwv.1_Missense_Mutation_p.T204N|DRD2_uc001poa.3_Missense_Mutation_p.T205N|DRD2_uc001pob.3_Missense_Mutation_p.T205N|DRD2_uc009yyr.1_Missense_Mutation_p.T205N NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 205 Helical; Name=5; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GACCAGCAGGGTGACAATGAA 0.592 NA 72 125 1.79293e-35 2.24304e-35 0.01441 1 0 DDX6 1656 broad.mit.edu 37 11 118635968 118635968 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:118635968T>A uc001pub.2 - 6 956 c.595A>T c.(595-597)ACC>TCC p.T199S DDX6_uc001puc.2_Missense_Mutation_p.T199S NM_004397 NP_004388 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 199 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity ovary(1) 1 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) CCTCCTGTGGTTGCCATCACT 0.423 NA T IGH@ B-NHL 189 359 0 0 0.01441 0 0 FOXM1 2305 broad.mit.edu 37 12 2977850 2977850 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:2977850A>T uc001qlf.2 - 4 990 c.725T>A c.(724-726)ATG>AAG p.M242K FOXM1_uc001qle.2_Missense_Mutation_p.M242K|FOXM1_uc001qlg.2_Missense_Mutation_p.M242K|FOXM1_uc009zea.2_Missense_Mutation_p.M241K|FOXM1_uc009zeb.2_Missense_Mutation_p.M241K NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 242 Fork-head. cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TATCATGGCCATGTAAGAGTA 0.498 NA 95 250 0 0 0.01441 0 0 PARP11 57097 broad.mit.edu 37 12 3938098 3938098 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:3938098G>A uc001qmk.1 - 2 280 c.225C>T c.(223-225)TTC>TTT p.F75F PARP11_uc001qml.2_Silent_p.F82F|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Intron|PARP11_uc001qmn.2_Intron NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 75 WWE. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TCTTGTAGCTGAATTTGGAAG 0.358 NA 11 80 0 0 0.008291 0 0 ABCD2 225 broad.mit.edu 37 12 40013068 40013068 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:40013068C>G uc001rmb.2 - 1 776 c.350G>C c.(349-351)AGA>ACA p.R117T NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 117 ABC transmembrane type-1.|Interaction with PEX19.|Helical; (Potential). fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 AAGAAAGGTTCTTGAGATTAG 0.413 NA 69 79 0 0 0.01441 0 0 KRT74 121391 broad.mit.edu 37 12 52967174 52967174 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:52967174C>T uc001sap.1 - 1 436 c.388G>A c.(388-390)GAC>AAC p.D130N NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 130 Head. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) ATCTCAGGGTCCAGCTCCACG 0.602 NA 38 231 0 0 0.00874 0 0 OR6C70 390327 broad.mit.edu 37 12 55863582 55863582 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:55863582G>T uc010spn.1 - 1 341 c.341C>A c.(340-342)GCT>GAT p.A114D NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GGACAGAGCAGCTAGAAGGAA 0.393 NA 30 45 2.4375e-19 2.89211e-19 0.007291 1 0 BAZ2A 11176 broad.mit.edu 37 12 56999683 56999683 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:56999683C>T uc001slq.1 - 13 2624 c.2430G>A c.(2428-2430)CGG>CGA p.R810R BAZ2A_uc001slp.1_Silent_p.R808R|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.R778R NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 810 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 GCTGCCTCTGCCGTTCCTCCA 0.443 NA 8 15 0 0 0.006214 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521497 64521497 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:64521497T>A uc010ssp.1 + 20 2589 c.2533T>A c.(2533-2535)TTA>ATA p.L845I SRGAP1_uc001srv.2_Missense_Mutation_p.L782I NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 845 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) TGACGGCTATTTAGCCAGGTA 0.597 NA 21 117 0 0 0.010504 0 0 SLC6A15 55117 broad.mit.edu 37 12 85266387 85266387 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:85266387T>A uc001szv.2 - 8 1789 c.1296A>T c.(1294-1296)CTA>CTT p.L432L SLC6A15_uc010sul.1_Silent_p.L325L|SLC6A15_uc001szw.1_Silent_p.L140L NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 432 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 TAACTTTATTTAGCTCTTCTT 0.328 NA 9 60 0 0 0.004482 0 0 EID3 493861 broad.mit.edu 37 12 104698247 104698247 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:104698247C>A uc001tkw.2 + 1 699 c.535C>A c.(535-537)CGT>AGT p.R179S TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron NM_001008394 NP_001008395 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 CAAGCTAGAACGTTCTGCACC 0.428 NA 39 239 1.67305e-13 1.85963e-13 0.00623 1 0 RASAL1 8437 broad.mit.edu 37 12 113559391 113559391 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:113559391C>G uc001tum.1 - 6 644 c.351G>C c.(349-351)CAG>CAC p.Q117H RASAL1_uc010syp.1_Missense_Mutation_p.Q117H|RASAL1_uc001tul.2_Missense_Mutation_p.Q117H|RASAL1_uc001tun.1_Missense_Mutation_p.Q117H|RASAL1_uc010syq.1_Missense_Mutation_p.Q117H|RASAL1_uc001tuo.3_Missense_Mutation_p.Q117H|RASAL1_uc010syr.1_Missense_Mutation_p.Q117H NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 117 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 AGATCTCACCCTGCACTTCTG 0.493 NA 99 105 0 0 0.01441 0 0 FBXW8 26259 broad.mit.edu 37 12 117426577 117426577 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:117426577T>G uc001twg.1 + 7 1224 c.1142T>G c.(1141-1143)CTT>CGT p.L381R FBXW8_uc001twf.1_Missense_Mutation_p.L315R|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 381 protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) AGAACCCTCCTTTACGCCCAC 0.547 NA 8 403 0 0 0.00308 0 0 VPS33A 65082 broad.mit.edu 37 12 122748723 122748723 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:122748723T>A uc001ucd.2 - 2 239 c.126A>T c.(124-126)CTA>CTT p.L42L VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Silent_p.L42L NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 42 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGGGTCCAGTTAGGTATTCAT 0.343 NA 49 208 0 0 0.01441 0 0 POLE 5426 broad.mit.edu 37 12 133219516 133219516 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:133219516T>G uc001uks.1 - 36 4662 c.4618A>C c.(4618-4620)AAG>CAG p.K1540Q POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.K344Q|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1540 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGGCCCACCTTCTCCAGGAGG 0.627 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 68 69 0 0 0.01441 0 0 ZMYM2 7750 broad.mit.edu 37 13 20608525 20608525 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:20608525G>C uc001umr.2 + 12 2398 c.2100G>C c.(2098-2100)AAG>AAC p.K700N ZMYM2_uc001ums.2_Missense_Mutation_p.K700N|ZMYM2_uc001umt.2_Missense_Mutation_p.K700N|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.K80N|ZMYM2_uc001umw.2_Missense_Mutation_p.K153N NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CTGGCGTTAAGAGACCTTTCT 0.343 NA 35 84 0 0 0.004878 0 0 LATS2 26524 broad.mit.edu 37 13 21557918 21557918 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:21557918G>C uc009zzs.2 - 5 2292 c.1927C>G c.(1927-1929)CAG>GAG p.Q643E LATS2_uc001unr.3_Missense_Mutation_p.Q643E NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 643 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTCCGCATCTGCTCCTGCTCA 0.458 NA 17 64 0 0 0.007413 0 0 FGF9 2254 broad.mit.edu 37 13 22255205 22255205 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:22255205C>A uc001uog.2 + 2 1139 c.302C>A c.(301-303)GCA>GAA p.A101E NM_002010 NP_002001 P31371 FGF9_HUMAN fibroblast growth factor 9 precursor 101 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding 0 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ATCAGTATAGCAGTGGGCCTG 0.517 Melanoma(195;1939 2127 12623 13963 52730) NA 27 22 2.61193e-14 2.95821e-14 0.009535 1 0 PCDH17 27253 broad.mit.edu 37 13 58208543 58208543 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:58208543G>T uc001vhq.1 + 1 2755 c.1863G>T c.(1861-1863)GGG>GGT p.G621G PCDH17_uc010aec.1_Silent_p.G621G NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 621 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCGAGAGCGGGCGTCTCACCT 0.657 Melanoma(72;952 1291 1619 12849 33676) NA 10 162 4.3838e-07 4.64807e-07 0.001855 1 0 MYCBP2 23077 broad.mit.edu 37 13 77847609 77847609 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:77847609G>C uc001vkf.2 - 6 920 c.829C>G c.(829-831)CAG>GAG p.Q277E MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGAAATACCTGAATAGTTTGG 0.398 NA 14 45 0 0 0.00499 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328774 88328774 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:88328774G>T uc001vln.2 + 2 1350 c.1131G>T c.(1129-1131)GCG>GCT p.A377A SLITRK5_uc010tic.1_Silent_p.A136A NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 377 Extracellular (Potential).|LRRNT. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTCCCACCGCGTGCTCTTGCA 0.577 NA 61 84 3.74213e-36 4.70124e-36 0.01441 1 0 GPC5 2262 broad.mit.edu 37 13 93518680 93518680 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:93518680C>T uc010tif.1 + 8 2073 c.1707C>T c.(1705-1707)CCC>CCT p.P569P NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 569 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTTACTTCCCGGGATTTGGT 0.433 NA 24 88 0 0 0.00278 0 0 TEP1 7011 broad.mit.edu 37 14 20846397 20846397 + Splice_Site SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:20846397T>A uc001vxe.2 - 39 5549 c.5509_splice c.e39-1 p.D1837_splice TEP1_uc010ahk.2_Splice_Site_p.D1180_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.D1729_splice|TEP1_uc010tlh.1_Splice_Site_p.D175_splice NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCCCAGGTCCTACACAGGGAG 0.582 NA 60 34 0 0 0.01441 0 0 HNRNPC 3183 broad.mit.edu 37 14 21699132 21699132 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:21699132G>A uc001vzy.2 - 4 585 c.341C>T c.(340-342)CCG>CTG p.P114L HNRNPC_uc001vzw.2_Intron|HNRNPC_uc001wad.2_Intron|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Intron|HNRNPC_uc001waa.2_Missense_Mutation_p.P114L|HNRNPC_uc010ail.2_Missense_Mutation_p.P114L|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Intron|HNRNPC_uc001wac.2_Intron|HNRNPC_uc010tlr.1_5'Flank|HNRNPC_uc001waf.2_Intron|HNRNPC_uc001wae.2_Intron NM_031314 NP_112604 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C 114 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding 0 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) TAGAGGGGACGGAGAAGGGTG 0.478 NSCLC(108;607 2244 12726 38757) NA 19 168 0 0 0.007413 0 0 MDGA2 161357 broad.mit.edu 37 14 47566113 47566113 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:47566113A>T uc001wwj.3 - 6 1128 c.932T>A c.(931-933)ATT>AAT p.I311N MDGA2_uc001wwi.3_Missense_Mutation_p.I82N|MDGA2_uc010ani.2_Translation_Start_Site NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 311 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 ATTATTGGCAATGCAGCTGTA 0.433 NA 14 404 0 0 0.00245 0 0 SAV1 60485 broad.mit.edu 37 14 51132088 51132088 + Nonsense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:51132088G>C uc001wyg.1 - 3 505 c.344C>G c.(343-345)TCA>TGA p.S115* SAV1_uc001wyh.1_Nonsense_Mutation_p.S115* NM_021818 NP_068590 Q9H4B6 SAV1_HUMAN WW45 protein 115 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1) 1 all_epithelial(31;0.000611)|Breast(41;0.0333) CGTTACAAATGACTGAGAAGA 0.393 NA 3 84 0 0 0.000602 0 0 C14orf101 54916 broad.mit.edu 37 14 57099793 57099793 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:57099793C>T uc001xcm.2 + 13 1750 c.1628C>T c.(1627-1629)TCT>TTT p.S543F C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.S76F|C14orf101_uc001xco.2_Missense_Mutation_p.S76F NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 543 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) CCATGGGGGTCTTGTGACAAA 0.368 NA 19 47 0 0 0.010504 0 0 C14orf159 80017 broad.mit.edu 37 14 91691111 91691111 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:91691111G>T uc001xzb.2 + 16 2553 c.1785G>T c.(1783-1785)CTG>CTT p.L595L C14orf159_uc001xyx.2_Silent_p.L543L|C14orf159_uc001xyw.2_Silent_p.L600L|C14orf159_uc001xzc.2_Silent_p.L595L|C14orf159_uc001xza.2_Silent_p.L600L|C14orf159_uc001xyv.2_Silent_p.L560L|C14orf159_uc001xyz.2_Silent_p.L471L|C14orf159_uc001xze.2_Silent_p.L595L NM_001102366 NP_001095836 Q7Z3D6 CN159_HUMAN hypothetical protein LOC80017 isoform a 595 mitochondrion central_nervous_system(2)|ovary(1) 3 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGATGGGCTGCCCTTCCACA 0.572 NA 39 18 8.16277e-20 9.72378e-20 0.006999 1 0 RIN3 79890 broad.mit.edu 37 14 93118640 93118640 + Nonsense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:93118640C>T uc001yap.2 + 6 1398 c.1246C>T c.(1246-1248)CAA>TAA p.Q416* RIN3_uc010auk.2_Nonsense_Mutation_p.Q78*|RIN3_uc001yaq.2_Nonsense_Mutation_p.Q341*|RIN3_uc001yar.1_Nonsense_Mutation_p.Q78*|RIN3_uc001yas.1_Nonsense_Mutation_p.Q78* NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 416 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CCTGCCTCCCCAAGGGACCTC 0.657 NA 23 68 0 0 0.003954 0 0 OCA2 4948 broad.mit.edu 37 15 28202874 28202874 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:28202874C>A uc001zbh.3 - 16 1754 c.1644G>T c.(1642-1644)AAG>AAT p.K548N OCA2_uc010ayv.2_Missense_Mutation_p.K524N NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 548 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAATCTCGTGCTTCAGTTCTG 0.612 NA Oculocutaneous_Albinism 34 56 1.414e-09 1.53183e-09 0.003755 1 0 OCA2 4948 broad.mit.edu 37 15 28211923 28211923 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:28211923A>T uc001zbh.3 - 15 1659 c.1549T>A c.(1549-1551)TGC>AGC p.C517S OCA2_uc010ayv.2_Missense_Mutation_p.C493S NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 517 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGAACAAGGCAAATCCCAATG 0.418 NA Oculocutaneous_Albinism 20 47 0 0 0.012319 0 0 RYR3 6263 broad.mit.edu 37 15 33991970 33991970 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:33991970G>A uc001zhi.2 + 41 6385 c.6315G>A c.(6313-6315)CGG>CGA p.R2105R RYR3_uc010bar.2_Silent_p.R2105R NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2105 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAATTAGCCGGCAAAATCAGA 0.433 NA 3 58 0 0 0.004672 0 0 SLC12A6 9990 broad.mit.edu 37 15 34551102 34551102 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:34551102C>T uc001zhw.2 - 4 619 c.455G>A c.(454-456)CGC>CAC p.R152H SLC12A6_uc001zhv.2_Missense_Mutation_p.R101H|SLC12A6_uc001zhx.2_Missense_Mutation_p.R137H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R93H|SLC12A6_uc001zib.2_Missense_Mutation_p.R143H|SLC12A6_uc001zic.2_Missense_Mutation_p.R152H|SLC12A6_uc010bau.2_Missense_Mutation_p.R152H|SLC12A6_uc001zid.2_Missense_Mutation_p.R93H|SLC12A6_uc001zhu.2_Missense_Mutation_p.R13H NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 152 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) ATTGGCCATGCGGTTGAGGAG 0.458 NA 4 220 0 0 0.009096 0 0 DLL4 54567 broad.mit.edu 37 15 41222861 41222861 + Silent SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:41222861A>T uc001zng.1 + 3 695 c.375A>T c.(373-375)CCA>CCT p.P125P NM_019074 NP_061947 Q9NR61 DLL4_HUMAN delta-like 4 protein precursor 125 Extracellular (Potential). blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(2) 2 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGCACGCGCCAGGAGACGACC 0.652 NA OREG0023070 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 25 0 0 0.013537 0 0 CAPN3 825 broad.mit.edu 37 15 42702827 42702827 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:42702827C>G uc001zpn.1 + 21 2532 c.2226C>G c.(2224-2226)ATC>ATG p.I742M CAPN3_uc001zpk.1_Missense_Mutation_p.I509M|CAPN3_uc001zpl.1_Missense_Mutation_p.I649M|CAPN3_uc010udf.1_Missense_Mutation_p.I655M|CAPN3_uc010udg.1_Missense_Mutation_p.I607M|CAPN3_uc001zpo.1_Missense_Mutation_p.I736M|CAPN3_uc001zpp.1_Missense_Mutation_p.I650M|CAPN3_uc001zpq.1_Missense_Mutation_p.I230M|CAPN3_uc010bcv.1_Missense_Mutation_p.I77M|CAPN3_uc001zpr.1_Missense_Mutation_p.I77M|CAPN3_uc001zps.1_Missense_Mutation_p.I77M|CAPN3_uc001zpt.1_Missense_Mutation_p.I77M NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 742 EF-hand 3.|2 (Probable).|Domain IV. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CCGGCACCATCAACAGCTACG 0.512 NA 15 30 0 0 0.00245 0 0 CEP152 22995 broad.mit.edu 37 15 49048414 49048414 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:49048414G>A uc001zwy.2 - 20 3065 c.3031C>T c.(3031-3033)CAG>TAG p.Q1011* CEP152_uc001zwz.2_Nonsense_Mutation_p.Q1011*|CEP152_uc001zxa.1_Nonsense_Mutation_p.Q918* NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1011 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GTCTCCTTCTGAAGAAGTAGT 0.393 NA 35 62 0 0 0.003271 0 0 UNC13C 440279 broad.mit.edu 37 15 54305729 54305729 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:54305729G>A uc002ack.2 + 1 629 c.629G>A c.(628-630)AGA>AAA p.R210K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 210 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGGGGAATAAGAAGTAAGTCT 0.438 NA 39 150 0 0 0.006999 0 0 PRTG 283659 broad.mit.edu 37 15 55965800 55965800 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:55965800G>T uc002adg.2 - 10 1669 c.1621C>A c.(1621-1623)CCA>ACA p.P541T PRTG_uc002adh.2_Missense_Mutation_p.P43T NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 541 Fibronectin type-III 2. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TATTTGGCTGGGATTGGCAGC 0.498 NA 60 130 6.0678e-26 7.43554e-26 0.01441 1 0 VPS13C 54832 broad.mit.edu 37 15 62254661 62254661 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:62254661T>A uc002agz.2 - 34 3586 c.3512A>T c.(3511-3513)TAT>TTT p.Y1171F VPS13C_uc002aha.2_Missense_Mutation_p.Y1128F|VPS13C_uc002ahb.1_Missense_Mutation_p.Y1171F|VPS13C_uc002ahc.1_Missense_Mutation_p.Y1128F NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1171 protein localization ovary(2) 2 CATGTCAGTATACAAATCCCC 0.368 NA 85 169 0 0 0.01441 0 0 HERC1 8925 broad.mit.edu 37 15 64045267 64045267 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:64045267C>A uc002amp.2 - 8 1940 c.1792G>T c.(1792-1794)GAT>TAT p.D598Y HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.D598Y NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 598 RCC1 5. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CTGTTGGTATCACCATGACCA 0.343 NA 10 53 7.48243e-07 7.90546e-07 0.006214 1 0 CILP 8483 broad.mit.edu 37 15 65489559 65489559 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:65489559C>T uc002aon.2 - 9 3246 c.3065G>A c.(3064-3066)CGC>CAC p.R1022H NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 1022 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CACCAGGGTGCGGTCCACACG 0.592 NA 5 168 0 0 0.000602 0 0 LBXCOR1 390598 broad.mit.edu 37 15 68119495 68119495 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:68119495C>G uc002aqy.1 + 3 1197 c.1197C>G c.(1195-1197)GCC>GCG p.A399A NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 443 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 gcccgggagccagccacttgc 0.358 NA 2 1 0 0 0.004672 0 0 RPP25 54913 broad.mit.edu 37 15 75248342 75248342 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:75248342C>T uc002azj.1 - 1 1434 c.583G>A c.(583-585)GAG>AAG p.E195K NM_017793 NP_060263 Q9BUL9 RPP25_HUMAN ribonuclease P 25kDa subunit 195 tRNA processing nucleus protein binding|ribonuclease P activity|RNA binding 0 GTCTGATCCTCGTCCGCAACC 0.662 NA 9 50 0 0 0.006214 0 0 TSPAN3 10099 broad.mit.edu 37 15 77348204 77348204 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:77348204A>T uc002bcj.2 - 3 474 c.257T>A c.(256-258)TTT>TAT p.F86Y TSPAN3_uc002bck.2_Intron|TSPAN3_uc010ump.1_Missense_Mutation_p.F22Y|TSPAN3_uc010bkx.2_Intron NM_005724 NP_005715 O60637 TSN3_HUMAN transmembrane 4 superfamily member 8 isoform 1 86 Helical; (Potential). integral to membrane 0 all cancers(203;1.14e-19) GATGATGACAAACTGTAAGAA 0.289 NA 41 86 0 0 0.007835 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79066595 79066595 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:79066595C>T uc002bej.3 - 13 2135 c.1924G>A c.(1924-1926)GAG>AAG p.E642K ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.E642K NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 642 Cys-rich. E -> K (in Ref. 1; AAD56358). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CGCAGCTTCTCGGCAAAGTAC 0.627 NA 3 20 0 0 0.009096 0 0 KLHL25 64410 broad.mit.edu 37 15 86311732 86311732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:86311732G>T uc002bly.2 - 2 1513 c.1310C>A c.(1309-1311)GCC>GAC p.A437D NM_022480 NP_071925 Q9H0H3 ENC2_HUMAN BTB/POZ KELCH domain protein 437 Kelch 3. cytoplasm ovary(2) 2 CACCACTGCGGCATTGCTGAC 0.587 NA 32 130 5.60225e-13 6.20397e-13 0.009535 1 0 KIAA0430 9665 broad.mit.edu 37 16 15705448 15705448 + Splice_Site SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:15705448C>A uc002ddr.2 - 18 3810 c.3617_splice c.e18+1 p.W1206_splice KIAA0430_uc002ddq.2_Splice_Site_p.W1040_splice|KIAA0430_uc010uzv.1_Splice_Site_p.W1202_splice|KIAA0430_uc010uzw.1_Splice_Site_p.W1205_splice NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 peroxisome nucleotide binding|RNA binding 0 CATCAACTCACCAGTGATAAG 0.368 NA 31 52 7.16026e-08 7.64613e-08 0.012213 1 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126881 19126881 + Silent SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:19126881A>T uc002dfu.3 + 1 1628 c.1098A>T c.(1096-1098)GCA>GCT p.A366A ITPRIPL2_uc002dft.2_Silent_p.A62A NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-triphosphate receptor interacting 366 Cytoplasmic (Potential). integral to membrane skin(2) 2 AGGAACGGGCAGCTCCAGGTG 0.667 NA 30 112 0 0 0.009535 0 0 SH2B1 25970 broad.mit.edu 37 16 28878061 28878061 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:28878061G>C uc002dri.2 + 4 1085 c.646G>C c.(646-648)GAT>CAT p.D216H uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.D216H|SH2B1_uc002drk.2_Missense_Mutation_p.D216H|SH2B1_uc002drl.2_Missense_Mutation_p.D216H|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.D216H|SH2B1_uc002drm.2_Missense_Mutation_p.D216H NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 216 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 ACTGGTCAGTGATGGAACGTC 0.622 NA 37 49 0 0 0.004878 0 0 CES4 51716 broad.mit.edu 37 16 55806422 55806422 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:55806422T>A uc002eik.2 + 5 724 c.273T>A c.(271-273)AGT>AGA p.S91R CES4_uc010cce.2_Missense_Mutation_p.S91R NR_003276 RecName: Full=Inactive carboxylesterase 4; AltName: Full=Placental carboxylesterase 3; Short=PCE-3; Flags: Precursor; 0 GAGGAGAAAGTGTCTCTGTTC 0.557 NA 6 25 0 0 0.001168 0 0 CES1 1066 broad.mit.edu 37 16 55866969 55866969 + Translation_Start_Site SNP G G A rs28515828 byFrequency TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:55866969G>A uc002eim.2 - 1 107 c.-1C>T c.(-3-1)CACGA>CATGA CES1_uc002eil.2_Translation_Start_Site|CES1_uc002ein.2_Translation_Start_Site NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 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) GAGCCACATCGTGGAAGGGCG 0.602 NSCLC(162;1801 2756 42904 52896) NA 20 83 0 0 0.00632 0 0 TEPP 374739 broad.mit.edu 37 16 58011792 58011792 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:58011792G>A uc002emw.3 + 2 274 c.237G>A c.(235-237)CTG>CTA p.L79L TEPP_uc002emv.3_Silent_p.L79L NM_199456 NP_955535 Q6URK8 TEPP_HUMAN testis/prostate/placenta-expressed protein 79 extracellular region kidney(1)|central_nervous_system(1)|skin(1) 3 CGGCCATCCTGCTTCCCATGG 0.657 NA 132 208 0 0 0.01441 0 0 KCTD19 146212 broad.mit.edu 37 16 67338379 67338379 + Silent SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:67338379T>C uc002esu.2 - 3 447 c.396A>G c.(394-396)ACA>ACG p.T132T KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 132 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TACACTTCCATGTACGCCAGT 0.478 NA 91 143 0 0 0.01441 0 0 CENPN 55839 broad.mit.edu 37 16 81050942 81050942 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:81050942C>G uc002ffx.2 + 4 1019 c.229C>G c.(229-231)CAT>GAT p.H77D CENPN_uc002ffw.3_Missense_Mutation_p.H77D|CENPN_uc010vnl.1_Missense_Mutation_p.H77D|CENPN_uc010vnm.1_Intron|CENPN_uc002ffy.3_Missense_Mutation_p.H77D NM_001100624 NP_001094094 Q96H22 CENPN_HUMAN centromere protein N isoform 2 77 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 TATGCAATTTCATCAGCACCA 0.294 NA 65 102 0 0 0.01441 0 0 ATMIN 23300 broad.mit.edu 37 16 81069732 81069732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:81069732G>T uc002ffz.1 + 1 275 c.257G>T c.(256-258)TGC>TTC p.C86F ATMIN_uc002fga.2_5'Flank|ATMIN_uc010vnn.1_5'Flank NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 86 C2H2-type 1. response to DNA damage stimulus nucleus zinc ion binding 0 AACATCCTGTGCACCGTGCGC 0.493 NA 8 32 0.000157383 0.000162829 0.00308 1 0 TP53 7157 broad.mit.edu 37 17 7578433 7578433 + Nonsense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:7578433G>C uc002gim.2 - 5 691 c.497C>G c.(496-498)TCA>TGA p.S166* TP53_uc002gig.1_Nonsense_Mutation_p.S166*|TP53_uc002gih.2_Nonsense_Mutation_p.S166*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.S34*|TP53_uc010cng.1_Nonsense_Mutation_p.S34*|TP53_uc002gii.1_Nonsense_Mutation_p.S34*|TP53_uc010cnh.1_Nonsense_Mutation_p.S166*|TP53_uc010cni.1_Nonsense_Mutation_p.S166*|TP53_uc002gij.2_Nonsense_Mutation_p.S166*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.S73*|TP53_uc002gio.2_Nonsense_Mutation_p.S34*|TP53_uc010vug.1_Nonsense_Mutation_p.S127* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 166 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> T (in sporadic cancers; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S166*(19)|p.0?(7)|p.S166P(5)|p.S166L(4)|p.Q167fs*14(4)|p.S166A(2)|p.S166fs*15(2)|p.S166S(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.K164_P219del(1)|p.S166T(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)|p.Q165_S166insXXX(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) CATGTGCTGTGACTGCTTGTA 0.632 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) 66 47 0 0 0.01441 0 0 LIG3 3980 broad.mit.edu 37 17 33329065 33329065 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:33329065G>A uc002hik.1 + 18 2724 c.2616G>A c.(2614-2616)AAG>AAA p.K872K LIG3_uc002hij.2_Silent_p.K872K NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 872 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) CCCCCAGCAAGCCCTCAGCCA 0.572 NA Other_BER_factors 9 103 0 0 0.004482 0 0 HOXB3 3213 broad.mit.edu 37 17 46628504 46628504 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:46628504C>T uc002inn.2 - 2 888 c.488G>A c.(487-489)GGA>GAA p.G163E HOXB3_uc010wlm.1_Missense_Mutation_p.G90E|HOXB3_uc010dbf.2_Missense_Mutation_p.G163E|HOXB3_uc010dbg.2_Missense_Mutation_p.G163E|HOXB3_uc002ino.2_Missense_Mutation_p.G163E|HOXB3_uc010wlk.1_Missense_Mutation_p.G31E|HOXB3_uc010wll.1_Missense_Mutation_p.G90E NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 163 Gly-rich. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 accactgcctccgccgccgcc 0.413 NA 5 9 0 0 0.001168 0 0 INTS2 57508 broad.mit.edu 37 17 59988888 59988888 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:59988888C>G uc002izn.2 - 7 1047 c.971G>C c.(970-972)GGA>GCA p.G324A INTS2_uc002izm.2_Missense_Mutation_p.G316A NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 324 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 CACCTGCTGTCCATTTCGGAT 0.388 NA 26 30 0 0 0.004656 0 0 DDX42 11325 broad.mit.edu 37 17 61869884 61869884 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:61869884G>A uc002jbu.2 + 4 591 c.334G>A c.(334-336)GAT>AAT p.D112N DDX42_uc002jbv.2_Missense_Mutation_p.D112N|DDX42_uc002jbw.1_5'UTR NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 112 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 TTCTGACAGCGATGATGATCC 0.398 NA 15 101 0 0 0.012319 0 0 ABCA8 10351 broad.mit.edu 37 17 66933233 66933233 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:66933233C>G uc002jhp.2 - 4 504 c.325G>C c.(325-327)GAT>CAT p.D109H ABCA8_uc002jhq.2_Missense_Mutation_p.D109H|ABCA8_uc010wqq.1_Missense_Mutation_p.D109H|ABCA8_uc010wqr.1_Missense_Mutation_p.D48H|ABCA8_uc002jhr.2_Missense_Mutation_p.D109H|ABCA8_uc002jhs.2_Missense_Mutation_p.D109H|ABCA8_uc002jht.2_Missense_Mutation_p.D109H NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 109 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CTTTCCTCATCTGGCAGTCCC 0.338 NA 21 29 0 0 0.008871 0 0 DNAI2 64446 broad.mit.edu 37 17 72295931 72295931 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:72295931T>G uc002jkf.2 + 7 898 c.799T>G c.(799-801)TAT>GAT p.Y267D DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 267 WD 3. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 AGACCCTGTGTATGGCACCAT 0.607 NA Kartagener_syndrome 38 50 0 0 0.006999 0 0 SAP30BP 29115 broad.mit.edu 37 17 73689542 73689542 + Missense_Mutation SNP G G C rs150596591 byFrequency TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:73689542G>C uc002jpe.2 + 4 341 c.287G>C c.(286-288)CGA>CCA p.R96P SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.R80P NM_013260 NP_037392 Q9UHR5 S30BP_HUMAN transcriptional regulator protein 96 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGAAAAGCGAGACCCCCAG 0.552 NA 17 73 0 0 0.008871 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622174 74622174 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:74622174G>A uc002jsh.2 - 7 1593 c.1419C>T c.(1417-1419)CAC>CAT p.H473H ST6GALNAC1_uc002jsi.2_Silent_p.H341H|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 473 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 CCTGGGGTCTGTGCCTGTGGT 0.547 NA 61 227 0 0 0.01441 0 0 PCSK4 54760 broad.mit.edu 37 19 1483662 1483662 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:1483662G>A uc002ltb.1 - 11 1440 c.1378C>T c.(1378-1380)CAG>TAG p.Q460* PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Nonsense_Mutation_p.Q272* NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 460 proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GGGCGGCTCTGGACCCGGACG 0.617 NA 9 7 0 0 0.004007 0 0 KEAP1 9817 broad.mit.edu 37 19 10600446 10600446 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:10600446C>T uc002moq.1 - 4 1565 c.1409G>A c.(1408-1410)CGT>CAT p.R470H KEAP1_uc002mop.1_Missense_Mutation_p.R188H|KEAP1_uc002mor.1_Missense_Mutation_p.R470H NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATAAAGGAGACGATTGAGGAC 0.562 NA 25 21 0 0 0.00278 0 0 RTBDN 83546 broad.mit.edu 37 19 12939476 12939476 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:12939476C>T uc002mvi.2 - 4 490 c.360G>A c.(358-360)CAG>CAA p.Q120Q RTBDN_uc002mvh.1_Silent_p.Q152Q|RTBDN_uc002mvj.2_Silent_p.Q152Q NM_001080997 NP_001074466 Q9BSG5 RTBDN_HUMAN retbindin isoform 1 120 extracellular region 0 CCTACCAGGCCTGGCAGAGCT 0.647 NA 20 55 0 0 0.003954 0 0 SLC27A1 376497 broad.mit.edu 37 19 17612097 17612097 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:17612097C>A uc002ngu.1 + 11 1702 c.1652C>A c.(1651-1653)GCA>GAA p.A551E SLC27A1_uc010xpp.1_Missense_Mutation_p.A372E|SLC27A1_uc002ngv.1_Missense_Mutation_p.A153E NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 551 Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 GAGGGTAAGGCAGGGATGGCG 0.642 NA 40 18 2.47872e-24 3.02506e-24 0.010771 1 0 ZNF208 7757 broad.mit.edu 37 19 22154332 22154332 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:22154332G>T uc002nqp.2 - 6 3269 c.3120C>A c.(3118-3120)CCC>CCA p.P1040P ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCTA 0.363 NA 20 16 3.51602e-12 3.85088e-12 0.008871 1 0 ZNF566 84924 broad.mit.edu 37 19 36967453 36967453 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:36967453G>A uc002oea.3 - 2 89 c.7C>T c.(7-9)CAG>TAG p.Q3* ZNF566_uc010xte.1_Nonsense_Mutation_p.Q3*|ZNF566_uc010xtf.1_Nonsense_Mutation_p.Q3*|ZNF566_uc002oeb.3_Nonsense_Mutation_p.Q3*|ZNF566_uc002oec.3_5'UTR|ZNF566_uc010xtg.1_5'UTR NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) TATCTCACCTGAGCCATGGCT 0.398 NA 13 66 0 0 0.001855 0 0 IL28B 282617 broad.mit.edu 37 19 39734751 39734751 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:39734751A>G uc010xut.1 - 3 309 c.305T>C c.(304-306)CTG>CCG p.L102P IL28B_uc010xuu.1_Missense_Mutation_p.L102P NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 102 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CAGAACCTTCAGCGTCAGGGC 0.498 NA 29 79 0 0 0.012213 0 0 SHKBP1 92799 broad.mit.edu 37 19 41086690 41086690 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:41086690G>T uc002oob.2 + 9 741 c.692G>T c.(691-693)AGC>ATC p.S231I SHKBP1_uc002ooc.2_Missense_Mutation_p.S231I|SHKBP1_uc002ood.2_Missense_Mutation_p.S231I|SHKBP1_uc010xvl.1_Missense_Mutation_p.S154I|SHKBP1_uc002ooe.2_Missense_Mutation_p.S68I|SHKBP1_uc002oof.2_Missense_Mutation_p.S68I|SHKBP1_uc010xvm.1_Missense_Mutation_p.S68I|SHKBP1_uc010xvn.1_Missense_Mutation_p.S109I NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 231 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGTTTTCCAGCCCCCGCCTG 0.632 NA 73 143 2.43199e-30 3.02985e-30 0.01441 1 0 ZNF283 284349 broad.mit.edu 37 19 44351558 44351558 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:44351558G>C uc002oxr.3 + 7 1073 c.805G>C c.(805-807)GGG>CGG p.G269R ZNF283_uc002oxp.3_Missense_Mutation_p.G130R NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN zinc finger protein 283 269 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TAAGGAATGTGGGAAGACCTT 0.403 NA 8 65 0 0 0.00308 0 0 FBXO46 23403 broad.mit.edu 37 19 46216187 46216187 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:46216187G>C uc002pcy.2 - 2 692 c.567C>G c.(565-567)AGC>AGG p.S189R FBXO46_uc002pcz.2_Missense_Mutation_p.S189R NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 189 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GTCGTGGGTAGCTCTGCAGGG 0.697 NA 5 16 0 0 0.000602 0 0 RSPH6A 81492 broad.mit.edu 37 19 46305469 46305469 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:46305469C>A uc002pdm.2 - 4 1850 c.1707G>T c.(1705-1707)CTG>CTT p.L569L RSPH6A_uc002pdl.2_Silent_p.L305L NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 569 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 cctcctcccccaggtcctcct 0.398 NA 13 10 2.68362e-12 2.95001e-12 0.013537 1 0 SLC6A16 28968 broad.mit.edu 37 19 49812634 49812634 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:49812634A>C uc002pmz.2 - 6 1145 c.911T>G c.(910-912)ATC>AGC p.I304S SLC6A16_uc002pna.2_Missense_Mutation_p.I304S|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 304 Helical; Name=5; (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) ACCGACAATGATGAAACAGGG 0.493 NA 11 81 0 0 0.00245 0 0 KLK14 43847 broad.mit.edu 37 19 51581323 51581323 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:51581323C>T uc002pvs.1 - 7 964 c.745G>A c.(745-747)GTC>ATC p.V249I NM_022046 NP_071329 Q9P0G3 KLK14_HUMAN kallikrein 14 preproprotein 249 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity skin(1) 1 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) TTGGTGTAGACACCGGGGTAG 0.587 GBM(117;2161 2172 2448 22911) NA 21 156 0 0 0.00333 0 0 ZNF611 81856 broad.mit.edu 37 19 53208732 53208732 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:53208732C>G uc002pzz.2 - 7 1893 c.1576G>C c.(1576-1578)GAG>CAG p.E526Q ZNF611_uc010eqc.2_Missense_Mutation_p.E456Q|ZNF611_uc010ydo.1_Missense_Mutation_p.E456Q|ZNF611_uc010ydr.1_Missense_Mutation_p.E457Q|ZNF611_uc010ydp.1_Missense_Mutation_p.E526Q|ZNF611_uc010ydq.1_Missense_Mutation_p.E526Q|ZNF611_uc002qaa.3_Missense_Mutation_p.E456Q NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 526 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTATGTGTCTCAAGGCTTGAT 0.358 NA 109 196 0 0 0.01441 0 0 ZNF160 90338 broad.mit.edu 37 19 53589517 53589517 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:53589517G>T uc010eqk.2 - 4 429 c.13C>A c.(13-15)CAG>AAG p.Q5K ZNF160_uc002qaq.3_Missense_Mutation_p.Q5K|ZNF160_uc002qar.3_Missense_Mutation_p.Q5K|ZNF160_uc002qas.3_Missense_Mutation_p.Q5K NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 5 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) CACTTTACCTGAGTAAGGGCC 0.428 NA 38 84 2.87052e-16 3.3011e-16 0.005524 1 0 VSTM1 284415 broad.mit.edu 37 19 54545619 54545619 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:54545619G>A uc002qcw.3 - 5 575 c.399C>T c.(397-399)ACC>ACT p.T133T VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Intron NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 133 integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AGATGGTTCTGGTGTCTGGAG 0.502 NA 16 47 0 0 0.00499 0 0 MSH2 4436 broad.mit.edu 37 2 47709956 47709956 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:47709956G>C uc002rvy.1 + 16 2741 c.2673G>C c.(2671-2673)GTG>GTC p.V891V MSH2_uc010yoh.1_Silent_p.V825V|MSH2_uc002rvz.2_Intron|MSH2_uc010fbg.2_Silent_p.V701V NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 891 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.?(2) large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTCCAAGGTGAAACAAATGC 0.313 NA D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 11 42 0 0 0.010729 0 0 ZNF638 27332 broad.mit.edu 37 2 71631126 71631126 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:71631126G>A uc002shx.2 + 17 3275 c.2956G>A c.(2956-2958)GAG>AAG p.E986K ZNF638_uc010yqw.1_Missense_Mutation_p.E565K|ZNF638_uc002shy.2_Missense_Mutation_p.E986K|ZNF638_uc002shz.2_Missense_Mutation_p.E986K|ZNF638_uc002sia.2_Missense_Mutation_p.E986K|ZNF638_uc002sib.1_Missense_Mutation_p.E986K|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.E83K NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 986 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TATAAAAGATGAGGTAAATCA 0.328 NA 37 198 0 0 0.00623 0 0 RETSAT 54884 broad.mit.edu 37 2 85577259 85577260 + Missense_Mutation DNP GG GG AA TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:85577259_85577260GG>AA uc002spd.2 - 4 893_894 c.702_703CC>TT c.(700-705)TTCCTT>TTTTTT p.L235F RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.L174F|RETSAT_uc010fgf.2_Intron NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 235 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) GATGCTTGAAGGAATGGAGAGA 0.584 NA 35 211 0 0 0.004672 0 0 POLR1A 25885 broad.mit.edu 37 2 86305044 86305044 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:86305044C>T uc002sqs.2 - 11 1697 c.1318G>A c.(1318-1320)GCT>ACT p.A440T NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 440 YA -> ST (in Ref. 1; AAC99959). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GAGCGCGCAGCGTAGTCCACT 0.358 NA 48 216 0 0 0.01441 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626979 108626979 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:108626979G>A uc002tdv.2 + 9 1681 c.1405G>A c.(1405-1407)GAT>AAT p.D469N SLC5A7_uc010ywm.1_Missense_Mutation_p.D222N|SLC5A7_uc010fjj.2_Missense_Mutation_p.D469N|SLC5A7_uc010ywn.1_Missense_Mutation_p.D356N NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 469 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) TTACCCTGATGATAATGGTAT 0.398 NA 16 113 0 0 0.004007 0 0 MARCO 8685 broad.mit.edu 37 2 119735488 119735488 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:119735488A>T uc002tln.1 + 8 875 c.743A>T c.(742-744)GAG>GTG p.E248V MARCO_uc010yyf.1_Missense_Mutation_p.E170V NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 248 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 ACTAAGGGAGAGAAAGGAGAC 0.602 GBM(8;18 374 7467 11269 32796) NA 5 20 0 0 0.000602 0 0 MYO7B 4648 broad.mit.edu 37 2 128366435 128366435 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:128366435G>A uc002top.2 + 22 2849 c.2796G>A c.(2794-2796)CAG>CAA p.Q932Q NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 932 apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGAGGGCCAGGCCTCGCCGC 0.622 NA 15 20 0 0 0.014323 0 0 GPR39 2863 broad.mit.edu 37 2 133174758 133174758 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:133174758A>G uc002ttl.2 + 1 612 c.143A>G c.(142-144)AAC>AGC p.N48S NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 48 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 CTTCTGGGGAACAGCGCCACC 0.522 NA 92 91 0 0 0.01441 0 0 TANK 10010 broad.mit.edu 37 2 162036261 162036261 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:162036261T>A uc002ubr.1 + 2 246 c.88T>A c.(88-90)TTA>ATA p.L30I TANK_uc002ubq.1_Missense_Mutation_p.L30I|TANK_uc002ubs.2_Missense_Mutation_p.L30I NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 30 cytosol metal ion binding|protein binding ovary(1) 1 AGTAAAAGAATTACAGCAAAA 0.378 NA 4 36 0 0 0.000602 0 0 KCNH7 90134 broad.mit.edu 37 2 163253285 163253285 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:163253285C>G uc002uch.1 - 11 2790 c.2578G>C c.(2578-2580)GAG>CAG p.E860Q NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 860 Cytoplasmic (Potential).|cNMP. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) AAAGTCAACTCTAGGTTTGTT 0.363 GBM(196;1492 2208 17507 24132 45496) NA 16 22 0 0 0.004007 0 0 LRP2 4036 broad.mit.edu 37 2 170148767 170148767 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:170148767T>A uc002ues.2 - 7 978 c.765A>T c.(763-765)GGA>GGT p.G255G LRP2_uc010zdf.1_Silent_p.G255G NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 255 LDL-receptor class A 6.|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) CCTTACCACATCCATCTTCAT 0.418 NA 20 126 0 0 0.00278 0 0 DLX1 1745 broad.mit.edu 37 2 172952956 172952956 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:172952956G>C uc002uhl.2 + 3 937 c.739G>C c.(739-741)GAA>CAA p.E247Q DLX1_uc002uhm.2_3'UTR NM_178120 NP_835221 P56177 DLX1_HUMAN distal-less homeobox 1 isoform 1 247 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) AGCGCACCAAGAAGCTATGCA 0.617 NA 7 340 0 0 0.004482 0 0 AOX1 316 broad.mit.edu 37 2 201469469 201469469 + Silent SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:201469469A>G uc002uvx.2 + 9 821 c.720A>G c.(718-720)AGA>AGG p.R240R NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 240 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GCAGTGAGAGAATGATGTGGT 0.463 NA 30 117 0 0 0.009535 0 0 CLK1 1195 broad.mit.edu 37 2 201719419 201719419 + Splice_Site SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:201719419C>A uc002uwe.2 - 11 1322 c.1141_splice c.e11-1 p.T381_splice CLK1_uc002uwd.2_Splice_Site_p.T204_splice|CLK1_uc010zhi.1_Splice_Site_p.T423_splice|CLK1_uc002uwf.2_Splice_Site_p.T155_splice|CLK1_uc002uwg.2_Splice_Site_p.T230_splice|CLK1_uc010fsv.2_Splice_Site NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 TATCGTGTGTCTAGAAATAAA 0.368 NA 27 158 4.87955e-14 5.46437e-14 0.005443 1 0 AQP12B 653437 broad.mit.edu 37 2 241621963 241621963 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:241621963G>T uc010fzj.2 - 1 355 c.292C>A c.(292-294)CTG>ATG p.L98M AQP12B_uc002vzt.2_Intron NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN aquaporin 12B 86 integral to membrane transporter activity 0 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) AACTCCTGCAGGGACACGGTG 0.687 NA 13 74 7.03913e-09 7.54372e-09 0.013537 1 0 RPN2 6185 broad.mit.edu 37 20 35827457 35827457 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:35827457C>G uc002xgp.2 + 4 612 c.308C>G c.(307-309)TCT>TGT p.S103C RPN2_uc002xgo.3_Missense_Mutation_p.S103C|RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.2_Missense_Mutation_p.S71C NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 103 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) TCTTAGATCTCTATTTCAAAT 0.468 NA 70 164 0 0 0.01441 0 0 RPN2 6185 broad.mit.edu 37 20 35827584 35827584 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:35827584C>G uc002xgp.2 + 4 739 c.435C>G c.(433-435)CTC>CTG p.L145L RPN2_uc002xgo.3_Silent_p.L145L|RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.2_Silent_p.L113L NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 145 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) AAGAAGCACTCAGTGCCCTTA 0.527 NA 47 140 0 0 0.011902 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356290 37356290 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:37356290C>A uc002xjc.2 + 2 849 c.586C>A c.(586-588)CCG>ACG p.P196T NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 196 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTGCTGCGCCCCGCGCTTCCC 0.632 NA 27 67 5.45727e-16 6.25181e-16 0.008361 1 0 PTPRT 11122 broad.mit.edu 37 20 40730910 40730910 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:40730910G>A uc002xkg.2 - 26 3752 c.3568C>T c.(3568-3570)CGG>TGG p.R1190W PTPRT_uc010ggj.2_Missense_Mutation_p.R1209W|PTPRT_uc010ggi.2_Missense_Mutation_p.R393W NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1190 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. R -> W (in a colorectal cancer; reduced phosphatase activity). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCCTCGGGCCGCACACGGGGT 0.562 NA 5 202 0 0 0.001168 0 0 C20orf111 51526 broad.mit.edu 37 20 42831602 42831602 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:42831602C>A uc002xlk.2 - 3 327 c.190G>T c.(190-192)GGG>TGG p.G64W NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 64 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) AGCTCTTACCCGTGCCAACTG 0.383 NA 19 71 1.45105e-14 1.64967e-14 0.006122 1 0 PMEPA1 56937 broad.mit.edu 37 20 56227472 56227472 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:56227472G>A uc002xyq.2 - 4 894 c.501C>T c.(499-501)CTC>CTT p.L167L PMEPA1_uc002xyr.2_Silent_p.L117L|PMEPA1_uc002xys.2_Silent_p.L132L|PMEPA1_uc002xyt.2_Silent_p.L117L NM_020182 NP_064567 Q969W9 PMEPA_HUMAN transmembrane prostate androgen-induced protein 167 Cytoplasmic (Potential). androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding pancreas(1) 1 CCCGAAGCTGGAGGGTGCAGG 0.642 NA 14 68 0 0 0.001855 0 0 CABLES2 81928 broad.mit.edu 37 20 60971600 60971600 + Silent SNP G G C rs148559612 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:60971600G>C uc002ycv.2 - 2 418 c.411C>G c.(409-411)GCC>GCG p.A137A NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 137 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CGCATCCCACGGCATCTTCCA 0.667 NA 9 65 0 0 0.010729 0 0 DIDO1 11083 broad.mit.edu 37 20 61511439 61511439 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:61511439G>A uc002ydr.1 - 16 6133 c.5869C>T c.(5869-5871)CCA>TCA p.P1957S DIDO1_uc002yds.1_Missense_Mutation_p.P1957S NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1957 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTGGGACCTGGCATAAAGTTA 0.587 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 7 691 0 0 0.00308 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981432 61981432 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:61981432G>T uc002yes.2 - 5 1509 c.1331C>A c.(1330-1332)CCC>CAC p.P444H CHRNA4_uc002yet.1_Missense_Mutation_p.P268H|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.P373H|CHRNA4_uc002yev.1_Missense_Mutation_p.P268H|CHRNA4_uc010gkf.1_Missense_Mutation_p.P268H NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 444 Cytoplasmic (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCCAGGCGAGGGGTGGGGGCT 0.706 NA 17 7 3.10358e-05 3.22212e-05 0.014323 1 0 ADARB1 104 broad.mit.edu 37 21 46641940 46641940 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr21:46641940C>T uc002zgy.2 + 12 2489 c.2054C>T c.(2053-2055)TCC>TTC p.S685F ADARB1_uc002zgr.2_Missense_Mutation_p.S685F|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.S645F|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.S645F|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 685 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) CAGGTTCCCTCCCACTTACTA 0.488 NA 33 29 0 0 0.012213 0 0 PCNT 5116 broad.mit.edu 37 21 47783764 47783764 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr21:47783764G>C uc002zji.3 + 14 2631 c.2524G>C c.(2524-2526)GAG>CAG p.E842Q PCNT_uc002zjj.2_Missense_Mutation_p.E724Q NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 842 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GTGTGGGCGGGAGCCGCCCAC 0.662 NA 107 88 0 0 0.01441 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072821 17072821 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:17072821G>T uc002zlp.1 - 1 880 c.620C>A c.(619-621)GCG>GAG p.A207E NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207V(1) ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCGGGCAGCGCGCACACCCC 0.617 NA 35 149 1.836e-18 2.16128e-18 0.003755 1 0 ZNF70 7621 broad.mit.edu 37 22 24087099 24087099 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:24087099G>A uc002zxs.2 - 2 690 c.229C>T c.(229-231)CAA>TAA p.Q77* ZNF70_uc002zxr.1_5'Flank NM_021916 NP_068735 Q9UC06 ZNF70_HUMAN zinc finger protein 70 77 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 GGGATACTTTGATGCTGAACA 0.488 NA 55 202 0 0 0.01441 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747039 26747039 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:26747039G>T uc003acb.2 + 12 2585 c.2429G>T c.(2428-2430)GGA>GTA p.G810V SEZ6L_uc003acc.2_Missense_Mutation_p.G810V|SEZ6L_uc011akc.1_Missense_Mutation_p.G810V|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.G810V|SEZ6L_uc003ace.2_Missense_Mutation_p.G810V|SEZ6L_uc003acf.1_Missense_Mutation_p.G583V|SEZ6L_uc010gvc.1_Missense_Mutation_p.G583V|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 810 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 ACCGACCCCGGAGAGGTGGAT 0.527 NA 31 214 9.8876e-21 1.18731e-20 0.004878 1 0 MN1 4330 broad.mit.edu 37 22 28193194 28193194 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:28193194G>A uc003adj.2 - 1 4293 c.3338C>T c.(3337-3339)TCG>TTG p.S1113L NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1113 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 GTCAGGGGTCGAGGTAGAGTT 0.751 NA T ETV6 AML|meningioma 6 10 0 0 0.001168 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704500 29704500 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:29704500C>T uc003afa.1 + 2 604 c.405C>T c.(403-405)AGC>AGT p.S135S GAS2L1_uc010gvm.1_Silent_p.S135S|GAS2L1_uc003afb.1_Silent_p.S135S|GAS2L1_uc003afc.1_Silent_p.S135S|GAS2L1_uc003afd.1_Silent_p.S135S|GAS2L1_uc003afe.1_Silent_p.S135S NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 135 CH. cell cycle arrest cytoplasm|cytoskeleton 0 ACGAGAAGAGCGTGGTGCTGT 0.667 NA 5 30 0 0 0.000602 0 0 C22orf33 339669 broad.mit.edu 37 22 37387544 37387544 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:37387544A>T uc003aqf.2 - 5 869 c.723T>A c.(721-723)CAT>CAA p.H241Q C22orf33_uc003aqe.2_Missense_Mutation_p.H156Q NM_001163857 NP_001157329 O43247 EAN57_HUMAN hypothetical protein LOC339669 isoform 1 241 0 TCTTCCTGCCATGCCAGTGTT 0.542 NA 120 209 0 0 0.01441 0 0 GADL1 339896 broad.mit.edu 37 3 30769763 30769763 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:30769763C>T uc003cep.2 - 15 1584 c.1537G>A c.(1537-1539)GAG>AAG p.E513K NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 513 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) AAGTCTATCTCATCCAGGAGG 0.537 NA 58 152 0 0 0.01441 0 0 CCR8 1237 broad.mit.edu 37 3 39374435 39374435 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:39374435T>G uc010hhr.2 + 2 751 c.613T>G c.(613-615)TTA>GTA p.L205V CCR8_uc003cjm.2_Missense_Mutation_p.L122V NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 205 Helical; Name=5; (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) AATGAACATTTTAGGCTTGTT 0.398 NA 56 53 0 0 0.01441 0 0 COL7A1 1294 broad.mit.edu 37 3 48626185 48626185 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:48626185G>C uc003ctz.2 - 19 2478 c.2477C>G c.(2476-2478)ACA>AGA p.T826R NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 826 Nonhelical region (NC1).|Fibronectin type-III 7. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCAGAGTCTGTGTTTCCTGG 0.607 NA 52 55 0 0 0.01441 0 0 MANF 7873 broad.mit.edu 37 3 51425216 51425216 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:51425216G>A uc003dbc.2 + 3 342 c.280G>A c.(280-282)GAG>AAG p.E94K NM_006010 NP_006001 P55145 MANF_HUMAN mesencephalic astrocyte-derived neurotrophic 91 response to unfolded protein extracellular region growth factor activity 0 AATCATCAATGAGGTATCAAA 0.483 NA 11 22 0 0 0.008291 0 0 VPRBP 9730 broad.mit.edu 37 3 51440599 51440599 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:51440599C>A uc003dbe.1 - 23 4611 c.4443G>T c.(4441-4443)GAG>GAT p.E1481D VPRBP_uc003dbf.1_Missense_Mutation_p.E757D NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 1481 Asp/Glu-rich (acidic).|Interaction with NF2. interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TCAGTTCCACCTCCTCATCTG 0.527 NA 33 26 1.49673e-21 1.80453e-21 0.00623 1 0 MINA 84864 broad.mit.edu 37 3 97669652 97669652 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:97669652C>T uc003drz.1 - 6 1372 c.866G>A c.(865-867)GGC>GAC p.G289D MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Missense_Mutation_p.G289D|MINA_uc003dsb.1_Missense_Mutation_p.G289D|MINA_uc003dsc.1_Missense_Mutation_p.G289D|MINA_uc010hpa.1_RNA NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 289 ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 CCGGGGTATGCCGGTCCGTAA 0.532 NA 5 188 0 0 0.000602 0 0 OR5H14 403273 broad.mit.edu 37 3 97868579 97868579 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:97868579C>A uc003dsg.1 + 1 350 c.350C>A c.(349-351)ACA>AAA p.T117K NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTCTTGGCAACAATGGCATAT 0.388 NA 49 101 1.07234e-20 1.28252e-20 0.01441 1 0 TOMM70A 9868 broad.mit.edu 37 3 100100548 100100548 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:100100548C>A uc003dtw.2 - 5 1227 c.795G>T c.(793-795)ACG>ACT p.T265T NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 265 Cytoplasmic (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 TGATATCATCCGTGAAAGAAC 0.378 NA 42 59 6.45866e-13 7.12597e-13 0.00874 1 0 MORC1 27136 broad.mit.edu 37 3 108776234 108776234 + Silent SNP G G A rs144305402 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:108776234G>A uc003dxl.2 - 13 1218 c.1131C>T c.(1129-1131)ATC>ATT p.I377I MORC1_uc011bhn.1_Silent_p.I377I NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 377 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CATGCATTTTGATCAAACGGT 0.388 NA 41 69 0 0 0.00874 0 0 ATP6V1A 523 broad.mit.edu 37 3 113505180 113505180 + Silent SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:113505180A>C uc003eao.2 + 6 732 c.666A>C c.(664-666)CCA>CCC p.P222P ATP6V1A_uc011bik.1_Silent_p.P189P NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 222 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 AGAAGCTGCCAGCCAATCATC 0.463 NA 41 223 0 0 0.009718 0 0 CHCHD6 84303 broad.mit.edu 37 3 126676372 126676372 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:126676372G>A uc003ejf.1 + 7 718 c.680G>A c.(679-681)CGC>CAC p.R227H CHCHD6_uc010hsj.1_Missense_Mutation_p.R228H NM_032343 NP_115719 Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain 227 CHCH. 0 GCATACCAGCGCTGCGTGAGC 0.617 NA 16 22 0 0 0.004007 0 0 PLXND1 23129 broad.mit.edu 37 3 129308193 129308193 + Splice_Site SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:129308193C>T uc003emx.2 - 2 1588 c.1488_splice c.e2+1 p.K496_splice NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 ACCATACCTACCTTGAGAAGC 0.667 Ovarian(97;366 1484 3738 22084 39045) NA 10 27 0 0 0.013537 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894884 139894884 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:139894884C>T uc003etn.2 + 2 391 c.201C>T c.(199-201)GCC>GCT p.A67A CLSTN2_uc003etm.2_Silent_p.A67A NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 67 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CACTGGTAGCCCTGGATAAAG 0.468 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 8 108 0 0 0.004482 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142539807 142539807 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:142539807C>T uc003evd.2 - 8 1226 c.1030G>A c.(1030-1032)GAG>AAG p.E344K NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 344 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 AAATTTCCCTCTTTGTAGATG 0.507 NA 30 76 0 0 0.007291 0 0 FAM43A 131583 broad.mit.edu 37 3 194407563 194407563 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:194407563C>T uc003fuj.2 + 1 942 c.8C>T c.(7-9)CCG>CTG p.P3L NM_153690 NP_710157 Q8N2R8 FA43A_HUMAN hypothetical protein LOC131583 3 central_nervous_system(1) 1 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) GAGATGCTGCCGTGGAAGAAG 0.552 NA 10 29 0 0 0.010729 0 0 TM4SF19 116211 broad.mit.edu 37 3 196050777 196050777 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:196050777G>T uc003fwl.1 - 5 666 c.541C>A c.(541-543)CTG>ATG p.L181M TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.Q14H|TM4SF19_uc010iad.1_Missense_Mutation_p.F179L|TM4SF19_uc011btv.1_Missense_Mutation_p.L155M NM_138461 NP_612470 Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 181 Helical; (Potential). integral to membrane 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CTGATGCACAGAAGGGCGGAG 0.567 NA 19 116 3.57192e-18 4.18826e-18 0.006122 1 0 ZNF141 7700 broad.mit.edu 37 4 367007 367007 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:367007G>A uc003gaa.2 + 5 959 c.781G>A c.(781-783)GGC>AGC p.G261S ZNF141_uc003gab.2_Intron NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 261 C2H2-type 4. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 TGAAGAATGTGGCAAAGCCTT 0.368 NA 91 81 0 0 0.01441 0 0 PIGG 54872 broad.mit.edu 37 4 515659 515659 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:515659G>C uc003gak.3 + 8 1679 c.1543G>C c.(1543-1545)GCC>CCC p.A515P PIGG_uc003gaj.3_Missense_Mutation_p.A507P|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.A382P|PIGG_uc003gal.3_Missense_Mutation_p.A426P|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.A426P NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 515 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 GATGGTGCTGGCCTCGGCGCT 0.587 NA 31 81 0 0 0.009535 0 0 NFXL1 152518 broad.mit.edu 37 4 47892633 47892633 + Silent SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:47892633T>G uc010igh.2 - 12 1717 c.1540A>C c.(1540-1542)AGA>CGA p.R514R NFXL1_uc003gxp.2_Silent_p.R514R|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.R514R NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 514 NF-X1-type 7. integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AGTTTACCTCTGTGACAGACA 0.333 NA 11 40 0 0 0.010729 0 0 GRSF1 2926 broad.mit.edu 37 4 71701932 71701932 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:71701932G>C uc010iia.1 - 2 540 c.457C>G c.(457-459)CGA>GGA p.R153G GRSF1_uc011caz.1_Missense_Mutation_p.R35G|GRSF1_uc003hfs.2_5'UTR NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 153 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) CCTTGAGCTCGAATGAGAAAG 0.388 NA 17 137 0 0 0.004007 0 0 CCDC158 339965 broad.mit.edu 37 4 77247123 77247123 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:77247123G>C uc003hkb.3 - 22 3197 c.3044C>G c.(3043-3045)TCT>TGT p.S1015C NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 1015 Ser-rich. skin(3)|ovary(2)|pancreas(1) 6 CTTCTTAGGAGAAGAATTGAA 0.358 NA 65 214 0 0 0.01441 0 0 TRPC3 7222 broad.mit.edu 37 4 122828657 122828657 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:122828657C>A uc003ieg.2 - 7 1932 c.1858G>T c.(1858-1860)GTG>TTG p.V620L TRPC3_uc010inr.2_Missense_Mutation_p.V492L|TRPC3_uc003ief.2_Missense_Mutation_p.V547L|TRPC3_uc011cgl.1_Missense_Mutation_p.V284L NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 535 Helical; (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AAGCTGAGCACAACAGCTATG 0.443 NA 39 42 3.61848e-18 4.22627e-18 0.007835 1 0 PHF17 79960 broad.mit.edu 37 4 129789088 129789088 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:129789088C>G uc003igk.2 + 10 1861 c.1581C>G c.(1579-1581)TTC>TTG p.F527L PHF17_uc003igl.2_Missense_Mutation_p.F515L|PHF17_uc011cgy.1_Missense_Mutation_p.F527L NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 527 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 AACAGATATTCAATCTTTACA 0.418 NA 19 32 0 0 0.010504 0 0 FAT1 2195 broad.mit.edu 37 4 187628476 187628476 + Nonsense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:187628476C>A uc003izf.2 - 2 2694 c.2506G>T c.(2506-2508)GAG>TAG p.E836* FAT1_uc010iso.1_Nonsense_Mutation_p.E836* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 836 Extracellular (Potential).|Cadherin 7. 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 CTATGTACCTCCTTGTCTTCA 0.473 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 95 84 2.1089e-46 2.70627e-46 0.01441 1 0 TRIO 7204 broad.mit.edu 37 5 14291189 14291189 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:14291189C>T uc003jff.2 + 5 911 c.905C>T c.(904-906)GCG>GTG p.A302V TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.A253V|TRIO_uc003jfh.1_5'Flank NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 302 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TCAGGCAATGCGGACCTGCAG 0.562 NA 5 222 0 0 0.000602 0 0 CDH9 1007 broad.mit.edu 37 5 26881693 26881693 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:26881693T>C uc003jgs.1 - 12 2091 c.1922A>G c.(1921-1923)AAA>AGA p.K641R CDH9_uc011cnv.1_Missense_Mutation_p.K234R NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 641 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AGGTTCCTTTTTTCTTTGCCT 0.388 Melanoma(8;187 585 15745 40864 52829) NA 16 61 0 0 0.00499 0 0 PDZD2 23037 broad.mit.edu 37 5 31799826 31799826 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:31799826G>C uc003jhl.2 + 2 859 c.471G>C c.(469-471)GGG>GGC p.G157G PDZD2_uc003jhm.2_Silent_p.G157G NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 157 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 ATGTCAGTGGGGCCAGGTAAG 0.572 NA 7 222 0 0 0.001984 0 0 WDR70 55100 broad.mit.edu 37 5 37727024 37727024 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:37727024C>G uc003jkv.2 + 17 1812 c.1754C>G c.(1753-1755)TCT>TGT p.S585C NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 585 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCACTCTCTCTTCCTATATT 0.448 NA 79 183 0 0 0.01441 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406296 38406296 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:38406296G>A uc003jlc.1 + 7 1105 c.781G>A c.(781-783)GAT>AAT p.D261N EGFLAM_uc003jlb.1_Missense_Mutation_p.D261N|EGFLAM_uc003jle.1_Missense_Mutation_p.D27N|EGFLAM_uc003jlf.1_Intron NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 261 cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TGGTGAGGATGATGAAGGATT 0.473 Colon(62;485 1295 3347 17454) NA 36 54 0 0 0.003271 0 0 CMYA5 202333 broad.mit.edu 37 5 79054629 79054629 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:79054629A>G uc003kgc.2 + 7 11236 c.11164A>G c.(11164-11166)ACA>GCA p.T3722A NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3722 Fibronectin type-III 1. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CACCAGCACAACAATTGCAGT 0.378 NA 38 30 0 0 0.005524 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631628 101631628 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:101631628G>A uc003knm.2 - 1 626 c.339C>T c.(337-339)CTC>CTT p.L113L NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 113 Helical; Name=1; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGACGGCCAAGAGGCAGTAGT 0.632 NA 39 34 0 0 0.00874 0 0 FBN2 2201 broad.mit.edu 37 5 127599169 127599169 + Nonsense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:127599169C>A uc003kuu.2 - 63 8579 c.8140G>T c.(8140-8142)GAG>TAG p.E2714* NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2714 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TAGCCCCCCTCCGTGTTAGAG 0.587 NA 50 59 1.42676e-28 1.76282e-28 0.01441 1 0 SLC22A4 6583 broad.mit.edu 37 5 131630701 131630701 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:131630701A>T uc003kwq.2 + 1 557 c.392A>T c.(391-393)GAG>GTG p.E131V uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 131 Extracellular (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GTCGTGACCGAGGTGGGTGCC 0.701 NA 10 6 0 0 0.010729 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431299 140431299 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140431299G>C uc003lik.1 + 1 321 c.244G>C c.(244-246)GGA>CGA p.G82R NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 82 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCAAGACGGGAGATTTGTT 0.572 NA 22 61 0 0 0.014323 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503320 140503320 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140503320G>A uc003lip.1 + 1 1740 c.1740G>A c.(1738-1740)GAG>GAA p.E580E NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 580 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCGAGCCGGGCTACC 0.697 NA 38 29 0 0 0.01441 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553584 140553584 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140553584C>T uc003lit.2 + 1 1342 c.1168C>T c.(1168-1170)CCC>TCC p.P390S NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 390 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACGATGTCCCCTTCATCCT 0.473 NA 43 34 0 0 0.007835 0 0 HRH2 3274 broad.mit.edu 37 5 175111158 175111158 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:175111158G>A uc003mdd.2 + 1 2695 c.922G>A c.(922-924)GCC>ACC p.A308T HRH2_uc003mdc.3_Missense_Mutation_p.A308T NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 308 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CTGCAGGCTGGCCAACCGCAA 0.582 NA 4 117 0 0 0.009096 0 0 RMND5B 64777 broad.mit.edu 37 5 177570722 177570722 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:177570722C>T uc003mim.2 + 6 701 c.521C>T c.(520-522)GCG>GTG p.A174V RMND5B_uc003min.2_Missense_Mutation_p.A174V|RMND5B_uc003mio.2_Missense_Mutation_p.A161V|RMND5B_uc003mip.2_Missense_Mutation_p.A174V|RMND5B_uc011dgf.1_Missense_Mutation_p.A215V|RMND5B_uc003miq.2_Missense_Mutation_p.A114V NM_022762 NP_073599 Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog 174 CTLH. ovary(1)|skin(1) 2 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGTCCTGCGTTGGAGTAA 0.527 NA 19 40 0 0 0.007413 0 0 RPP40 10799 broad.mit.edu 37 6 4996626 4996626 + Nonsense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:4996626A>T uc003mwl.2 - 6 623 c.588T>A c.(586-588)TAT>TAA p.Y196* RPP40_uc003mwm.2_Nonsense_Mutation_p.Y173* NM_006638 NP_006629 O75818 RPP40_HUMAN ribonuclease P 40kDa subunit 196 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 Ovarian(93;0.11) all_hematologic(90;0.0895) ACTTGGAAAAATATGACATCA 0.453 NA 17 161 0 0 0.00499 0 0 SLC44A4 80736 broad.mit.edu 37 6 31833121 31833121 + Silent SNP C C T rs142009471 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:31833121C>T uc010jti.2 - 17 1797 c.1731G>A c.(1729-1731)GCG>GCA p.A577A NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 577 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) GTAGCATGAACGCATTTTTGG 0.562 NA 52 270 0 0 0.01441 0 0 ITPR3 3710 broad.mit.edu 37 6 33632679 33632679 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:33632679C>A uc011drk.1 + 12 1400 c.1181C>A c.(1180-1182)ACC>AAC p.T394N NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 394 Cytoplasmic (Potential).|MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CACCTCTGCACCAACACGTGG 0.567 NA 24 48 2.48779e-11 2.70491e-11 0.005443 1 0 TTBK1 84630 broad.mit.edu 37 6 43225669 43225669 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:43225669C>T uc003ouq.1 + 10 1260 c.981C>T c.(979-981)CCC>CCT p.P327P NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 327 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CTACCCCGCCCCAGCAGAACA 0.627 NA 44 31 0 0 0.01441 0 0 SLC35A1 10559 broad.mit.edu 37 6 88218187 88218187 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:88218187G>A uc011dzj.1 + 6 703 c.624G>A c.(622-624)GTG>GTA p.V208V SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_Silent_p.V56V|SLC35A1_uc003plz.2_Intron|SLC35A1_uc011dzi.1_Silent_p.V74V|SLC35A1_uc003ply.2_Intron|SLC35A1_uc010kbx.2_Intron|SLC35A1_uc010kby.2_Intron|SLC35A1_uc011dzk.1_5'Flank NM_006416 NP_006407 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid 208 Cytoplasmic (Potential). carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity 0 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTCTTTGGGTGAGAAACATTC 0.294 NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932) NA 16 14 0 0 0.010504 0 0 SPACA1 81833 broad.mit.edu 37 6 88773828 88773828 + Nonsense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:88773828A>T uc003pmn.2 + 6 739 c.622A>T c.(622-624)AGA>TGA p.R208* NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor 208 Extracellular (Potential). integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) ATTGCAGATGAGAAGATCAAG 0.323 NA 5 54 0 0 0.000602 0 0 UBE2J1 51465 broad.mit.edu 37 6 90062268 90062268 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:90062268C>A uc010kcb.2 - 2 194 c.21G>T c.(19-21)CTG>CTT p.L7L UBE2J1_uc003pnc.2_Silent_p.L7L NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 7 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) CCGGACTCTTCAGGTTGTAGC 0.756 NA 15 7 4.7546e-09 5.11376e-09 0.004007 1 0 AKD1 221264 broad.mit.edu 37 6 109814589 109814589 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:109814589C>T uc003ptn.2 - 41 5796 c.5719G>A c.(5719-5721)GAC>AAC p.D1907N AKD1_uc011eas.1_Missense_Mutation_p.D292N NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1907 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TTAATTGGGTCTATATTTCTG 0.383 NA 81 58 0 0 0.01441 0 0 FAM184A 79632 broad.mit.edu 37 6 119345909 119345909 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:119345909C>T uc003pyj.2 - 2 577 c.229G>A c.(229-231)GAA>AAA p.E77K FAM184A_uc003pyk.3_5'UTR|FAM184A_uc003pyl.3_5'UTR NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 77 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 ATTTCTTCTTCATGAGCATCT 0.338 NA 33 21 0 0 0.010818 0 0 FAM120B 84498 broad.mit.edu 37 6 170627094 170627094 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:170627094C>G uc003qxp.2 + 2 724 c.616C>G c.(616-618)CTC>GTC p.L206V FAM120B_uc003qxo.1_Missense_Mutation_p.L206V|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 206 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CACCGTCATGCTCTGCAGAGA 0.527 NA 33 132 0 0 0.012213 0 0 USP42 84132 broad.mit.edu 37 7 6189291 6189291 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:6189291C>T uc011jwo.1 + 13 1587 c.1464C>T c.(1462-1464)TCC>TCT p.S488S USP42_uc010kth.1_Silent_p.S421S|USP42_uc011jwp.1_Silent_p.S488S|USP42_uc011jwq.1_Silent_p.S295S|USP42_uc011jwr.1_Silent_p.S333S NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 488 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) ACGGGAATTCCAGTGTCAACA 0.463 NA 66 108 0 0 0.01441 0 0 ZNF655 79027 broad.mit.edu 37 7 99171066 99171066 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:99171066C>T uc003urh.2 + 3 1728 c.1335C>T c.(1333-1335)TTC>TTT p.F445F ZNF655_uc010lga.2_Silent_p.F480F|ZNF655_uc010lgc.2_Silent_p.F480F|ZNF655_uc003urj.2_Silent_p.F445F|ZNF655_uc003urk.2_Silent_p.F282F|ZNF655_uc010lgd.2_Silent_p.F282F NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 445 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AGGGCAGTTTCAGTCATAGCT 0.408 NA 40 81 0 0 0.00874 0 0 LRCH4 4034 broad.mit.edu 37 7 100179736 100179736 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:100179736G>T uc003uvj.2 - 3 473 c.420C>A c.(418-420)GTC>GTA p.V140V LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA NM_002319 NP_002310 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) 140 LRR 5. nervous system development PML body protein binding large_intestine(1)|ovary(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGACGATGAGGACCCTCAGGG 0.637 NA 27 61 5.77227e-19 6.82177e-19 0.008361 1 0 SPAM1 6677 broad.mit.edu 37 7 123599915 123599915 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:123599915G>A uc003vld.2 + 6 1824 c.1422G>A c.(1420-1422)GAG>GAA p.E474E SPAM1_uc003vle.2_Silent_p.E474E|SPAM1_uc011koa.1_Silent_p.E130E|SPAM1_uc003vlf.3_Silent_p.E474E|SPAM1_uc010lku.2_Silent_p.E474E NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 474 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) CTCCCATGGAGACAGAAGAAC 0.383 NA 16 46 0 0 0.004007 0 0 GALNT11 63917 broad.mit.edu 37 7 151818708 151818708 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:151818708C>T uc010lqg.1 + 12 2003 c.1773C>T c.(1771-1773)GTC>GTT p.V591V GALNT11_uc011kvm.1_Silent_p.V510V|GALNT11_uc003wku.2_Silent_p.V591V NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 591 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGGGCTCTGTCGCCATGGCGA 0.532 NA 27 72 0 0 0.007291 0 0 MLL3 58508 broad.mit.edu 37 7 151945303 151945303 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:151945303G>C uc003wla.2 - 14 2435 c.2216C>G c.(2215-2217)TCT>TGT p.S739C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 739 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGTCATTTCAGAGTCCATCAA 0.363 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 3 78 0 0 0.009096 0 0 C8orf79 57604 broad.mit.edu 37 8 12878691 12878692 + Missense_Mutation DNP TC TC AA TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:12878691_12878692TC>AA uc010lsq.2 + 5 995_996 c.503_504TC>AA c.(502-504)CTC>CAA p.L168Q C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.L81Q|C8orf79_uc010lsr.2_Missense_Mutation_p.L42Q NM_020844 NP_065895 Q9P272 K1456_HUMAN hypothetical protein LOC57604 isoform 1 168 methyltransferase activity 0 TGTTCCCAGCTCTTCTCAGAGT 0.51 NA 9 52 0 0 0.004672 0 0 LZTS1 11178 broad.mit.edu 37 8 20112537 20112537 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:20112537G>A uc003wzr.2 - 1 267 c.156C>T c.(154-156)CAC>CAT p.H52H LZTS1_uc010ltg.1_Silent_p.H52H NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 52 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGGACTTGCCGTGACCGGAGT 0.577 NA 71 69 0 0 0.01441 0 0 GPR124 25960 broad.mit.edu 37 8 37692771 37692771 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:37692771G>A uc003xkj.2 + 12 2051 c.1688G>A c.(1687-1689)AGG>AAG p.R563K GPR124_uc010lvy.2_Intron NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 563 Extracellular (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCCTTCCAGAGGAGGGAGGGA 0.672 NA 23 52 0 0 0.003954 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38205058 38205058 + Missense_Mutation SNP C C T rs142206759 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:38205058C>T uc003xli.2 - 2 1150 c.632G>A c.(631-633)CGC>CAC p.R211H WHSC1L1_uc011lbm.1_Missense_Mutation_p.R211H|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R211H|WHSC1L1_uc003xlj.2_Missense_Mutation_p.R211H NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 211 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GTGTGACTTGCGCTCTTCAGA 0.353 NA T NUP98 AML 47 160 0 0 0.01441 0 0 MSC 9242 broad.mit.edu 37 8 72754901 72754901 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:72754901C>T uc003xyx.1 - 2 934 c.616G>A c.(616-618)GCT>ACT p.A206T uc011lff.1_5'Flank|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 206 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CCGATTTAAGCGGTGGTTCCA 0.493 NA 182 605 0 0 0.01441 0 0 PI15 51050 broad.mit.edu 37 8 75756265 75756266 + Missense_Mutation DNP GC GC AT TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:75756265_75756266GC>AT uc003yal.2 + 3 502_503 c.323_324GC>AT c.(322-324)TGC>TAT p.C108Y uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.C108Y NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 108 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GCGGCTACTTGCATTTGGGACC 0.431 NA 29 128 0 0 0.004672 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617598 77617598 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:77617598C>A uc003yav.2 + 2 1662 c.1275C>A c.(1273-1275)CTC>CTA p.L425L ZFHX4_uc003yat.1_Silent_p.L425L|ZFHX4_uc003yau.1_Silent_p.L425L|ZFHX4_uc003yaw.1_Silent_p.L425L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 425 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGTCTCCCTCAGCCACTCAT 0.502 NA HNSCC(33;0.089) 20 33 8.34094e-07 8.75067e-07 0.008871 1 0 ZFHX4 79776 broad.mit.edu 37 8 77617600 77617600 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:77617600G>A uc003yav.2 + 2 1664 c.1277G>A c.(1276-1278)AGC>AAC p.S426N ZFHX4_uc003yat.1_Missense_Mutation_p.S426N|ZFHX4_uc003yau.1_Missense_Mutation_p.S426N|ZFHX4_uc003yaw.1_Missense_Mutation_p.S426N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 426 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTCTCCCTCAGCCACTCATCG 0.502 NA HNSCC(33;0.089) 21 33 0 0 0.008871 0 0 EBAG9 9166 broad.mit.edu 37 8 110576697 110576697 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:110576697G>C uc003ynf.2 + 7 786 c.551G>C c.(550-552)AGA>ACA p.R184T EBAG9_uc003yng.2_Missense_Mutation_p.R184T NM_198120 NP_936056 O00559 RCAS1_HUMAN estrogen receptor binding site associated 184 Cytoplasmic (Potential).|Potential. apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity 0 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) AGAGAAAAGAGAGCAGCCGAA 0.343 NA 17 39 0 0 0.007413 0 0 C9orf131 138724 broad.mit.edu 37 9 35042966 35042966 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:35042966C>A uc003zvw.2 + 2 369 c.340C>A c.(340-342)CTG>ATG p.L114M C9orf131_uc003zvu.2_Missense_Mutation_p.L66M|C9orf131_uc003zvv.2_Missense_Mutation_p.L41M|C9orf131_uc003zvx.2_Missense_Mutation_p.L79M NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 114 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) cgaggCATCTCTGGATCCACT 0.428 NA 54 43 2.01872e-29 2.50455e-29 0.01441 1 0 VCP 7415 broad.mit.edu 37 9 35059557 35059557 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:35059557G>T uc003zvy.2 - 14 2326 c.1937C>A c.(1936-1938)CCA>CAA p.P646Q VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.P315Q|VCP_uc010mki.1_Missense_Mutation_p.P601Q NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 646 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATCAGGAAGTGGGATGTAGAT 0.522 NA 39 46 1.49673e-21 1.80453e-21 0.00623 1 0 RECK 8434 broad.mit.edu 37 9 36112407 36112407 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:36112407A>T uc003zyv.2 + 16 2080 c.1994A>T c.(1993-1995)CAG>CTG p.Q665L RECK_uc003zyw.2_Missense_Mutation_p.Q537L|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 665 Kazal-like 1. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CAAGACCATCAGTTTGAGTTT 0.448 NA 43 68 0 0 0.01441 0 0 GOLM1 51280 broad.mit.edu 37 9 88661457 88661457 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:88661457C>G uc004aol.2 - 5 593 c.395G>C c.(394-396)GGC>GCC p.G132A GOLM1_uc010mqd.1_RNA|GOLM1_uc004aom.2_Missense_Mutation_p.G132A NM_016548 NP_057632 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 132 Potential.|Lumenal (Potential). Golgi apparatus|integral to plasma membrane 0 CTGCAGCCTGCCGTAATTCCT 0.532 NA 13 10 0 0 0.001855 0 0 HSDL2 84263 broad.mit.edu 37 9 115171264 115171264 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:115171264C>G uc004bga.1 + 4 451 c.358C>G c.(358-360)CTG>GTG p.L120V HSDL2_uc011lwv.1_Translation_Start_Site|HSDL2_uc004bgb.1_Intron|HSDL2_uc004bgc.1_Intron|HSDL2_uc011lww.1_Translation_Start_Site NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 120 peroxisome oxidoreductase activity|sterol binding 0 GAGATTGGATCTGATGATGAA 0.408 NA 28 67 0 0 0.013726 0 0 GOLGA1 2800 broad.mit.edu 37 9 127693657 127693657 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:127693657T>C uc004bpc.2 - 4 506 c.164A>G c.(163-165)GAT>GGT p.D55G GOLGA1_uc010mwt.1_Missense_Mutation_p.D55G NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 55 Potential. Golgi cisterna membrane ovary(1) 1 GGATGAAAGATCTTCTCTGGA 0.433 NA 39 22 0 0 0.007835 0 0 TTC16 158248 broad.mit.edu 37 9 130479208 130479208 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:130479208T>A uc004brq.1 + 2 171 c.104T>A c.(103-105)ATC>AAC p.I35N PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'UTR|PTRH1_uc011mah.1_5'UTR|TTC16_uc011mai.1_Missense_Mutation_p.I35N|TTC16_uc004brr.1_5'Flank NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 35 binding 0 CTGCAGCACATCTTTGGGACC 0.542 NA 47 36 0 0 0.01441 0 0 NOXA1 10811 broad.mit.edu 37 9 140327948 140327948 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:140327948T>C uc004cmv.2 + 11 1088 c.953T>C c.(952-954)GTG>GCG p.V318A C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Missense_Mutation_p.V318A|NOXA1_uc010nch.2_Missense_Mutation_p.V262A NM_006647 NP_006638 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 318 OPR. Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) ACTGTCACCGTGCAGTGCGCC 0.711 NA 5 7 0 0 0.000602 0 0 NLGN4X 57502 broad.mit.edu 37 X 5827175 5827176 + Missense_Mutation DNP TC TC AA TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:5827175_5827176TC>AA uc010ndh.2 - 4 1231_1232 c.730_731GA>TT c.(730-732)GAC>TTC p.D244F NLGN4X_uc004crp.2_Missense_Mutation_p.D264F|NLGN4X_uc004crq.2_Missense_Mutation_p.D244F|NLGN4X_uc010ndi.2_Missense_Mutation_p.D281F|NLGN4X_uc004crr.2_Missense_Mutation_p.D244F|NLGN4X_uc010ndj.2_Missense_Mutation_p.D244F NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 244 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCTCTTGGGGTCCCCGCCAAAG 0.569 NA 18 47 0 0 0.004672 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766598 27766598 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:27766598C>T uc011mjy.1 + 1 1673 c.1586C>T c.(1585-1587)GCG>GTG p.A529V NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 CCTGTGTTGGCGTGCAGTGGC 0.473 NA 17 4 0 0 0.004007 0 0 FAM47B 170062 broad.mit.edu 37 X 34962140 34962140 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:34962140C>T uc004ddi.1 + 1 1210 c.1192C>T c.(1192-1194)CGC>TGC p.R398C NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 398 ovary(3)|breast(1) 4 GCCCCATCTCCGCCTGGTGCT 0.582 NA 47 18 0 0 0.01441 0 0 PHF16 9767 broad.mit.edu 37 X 46913983 46913983 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:46913983C>T uc004dgx.2 + 9 1447 c.1396C>T c.(1396-1398)CAC>TAC p.H466Y PHF16_uc004dgy.2_Missense_Mutation_p.H466Y NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 466 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 GGAAAGCATTCACACTCGAAT 0.453 NA 18 16 0 0 0.00499 0 0 TNMD 64102 broad.mit.edu 37 X 99854065 99854065 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:99854065C>G uc004efy.3 + 6 856 c.630C>G c.(628-630)GCC>GCG p.A210A TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 210 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 ACTTTCCTGCCAACGAAAAAA 0.423 NA 16 5 0 0 0.004007 0 0 FLNA 2316 broad.mit.edu 37 X 153593044 153593044 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:153593044G>A uc004fkk.2 - 13 2121 c.1872C>T c.(1870-1872)GAC>GAT p.D624D FLNA_uc010nuu.1_Silent_p.D624D NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 624 Filamin 4. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCCCTTGTCGTCACATTCGA 0.632 NA 44 64 0 0 0.01441 0 0 C1orf168 199920 broad.mit.edu 37 1 57219538 57219538 + Frame_Shift_Del DEL C C - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:57219538delC uc001cym.3 - 8 1607 c.1201delG c.(1201-1203)GAAfs p.E401fs C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.2_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 401 ovary(3)|skin(2) 5 GAATATGGTTCCTTTTCTGTG 0.353 NA 14 60 --- --- --- --- NA NA NA NA NA TAS2R31 259290 broad.mit.edu 37 12 11183906 11183907 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:11183906_11183907insA uc001qzo.1 - 1 100_101 c.28_29insT c.(28-30)TCCfs p.S10fs PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN taste receptor, type 2, member 31 10 Helical; Name=1; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 TACCACACTGGAAAAAATGATG 0.282 NA 7 69 --- --- --- --- NA NA NA NA NA ABCC1 4363 broad.mit.edu 37 16 16177395 16177397 + In_Frame_Del DEL AGA AGA - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 AGA AGA - - AGA AGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:16177395_16177397delAGA uc010bvi.2 + 17 2463_2465 c.2288_2290delAGA c.(2287-2292)GAGAAG>GAG p.K764del ABCC1_uc010bvj.2_Intron|ABCC1_uc010bvk.2_In_Frame_Del_p.K764del|ABCC1_uc010bvl.2_In_Frame_Del_p.K764del|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_In_Frame_Del_p.K648del NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 764 ABC transporter 1.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAGATTGGCGAGAAGGTCAGTAT 0.542 NA 27 221 --- --- --- --- NA NA NA NA NA FSHR 2492 broad.mit.edu 37 2 49217718 49217718 + Frame_Shift_Del DEL G G - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:49217718delG uc002rww.2 - 5 507 c.433delC c.(433-435)CAAfs p.Q145fs FSHR_uc002rwx.2_Frame_Shift_Del_p.Q145fs|FSHR_uc010fbn.2_Frame_Shift_Del_p.Q145fs|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 145 LRR 5.|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) AAAACTTTTTGGAGAGAATGA 0.383 NA Gonadal_Dysgenesis_46_XX 23 107 --- --- --- --- NA NA NA NA NA EIF5B 9669 broad.mit.edu 37 2 99993096 99993102 + Splice_Site DEL TGAGGTA TGAGGTA - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 TGAGGTA TGAGGTA - - TGAGGTA TGAGGTA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:99993096_99993102delTGAGGTA uc002tab.2 + 10 2026 c.1842_splice c.e10+1 p.E614_splice NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AACGGAGGATTGAGGTATTTATTTTAC 0.362 Colon(162;2388 2567 2705 3444) NA 12 130 --- --- --- --- NA NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21971057 21971058 + Frame_Shift_Ins INS - - A rs104894094 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:21971057_21971058insA uc003zpk.2 - 2 512_513 c.300_301insT c.(298-303)GCCGGGfs p.A100fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Ins_p.R156fs NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 100_101 ANK 3. G -> W (in CMM2 and FAMMMPC; impairs the function). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.A100S(3)|p.A100P(2)|p.H83fs*2(2)|p.A102fs*18(1)|p.A100V(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGCCGCGCCCCGGCCCGGTGCA 0.752 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 24 --- --- --- --- NA NA NA NA NA FAM75A2 642265 broad.mit.edu 37 9 39361117 39361117 + Frame_Shift_Del DEL G G - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:39361117delG uc004abm.2 + 4 3384 c.3355delG c.(3355-3357)GAAfs p.E1119fs NM_001040065 NP_001035154 Q5RGS2 F75A2_HUMAN hypothetical protein LOC642265 1119 integral to membrane 0 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GCCCAACTTAGAAAAACATGA 0.488 NA 62 203 --- --- --- --- NA NA NA NA NA