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 SPSB1 80176 broad.mit.edu 37 1 9416202 9416202 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:9416202G>T uc010oae.1 + 2 591 c.252G>T c.(250-252)ACG>ACT p.T84T SPSB1_uc001apv.2_Silent_p.T84T NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 84 B30.2/SPRY. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) CCCAGAGCACGGACGCTATCA 0.602 NA 35 184 5.43694e-19 9.14905e-19 0.005524 1 0 ZNF642 339559 broad.mit.edu 37 1 40961204 40961204 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:40961204G>A uc001cfo.2 + 6 1348 c.1054G>A c.(1054-1056)GAG>AAG p.E352K ZNF642_uc009vwb.2_Missense_Mutation_p.E352K|ZNF642_uc010ojk.1_Missense_Mutation_p.E353K NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) TCACACTGGGGAGAAACCCTA 0.418 NA 15 110 0 0 0.004007 0 0 CYP4X1 260293 broad.mit.edu 37 1 47489621 47489621 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:47489621C>A uc001cqt.2 + 1 382 c.132C>A c.(130-132)CGC>CGA p.R44R CYP4X1_uc001cqr.2_Intron|CYP4X1_uc001cqs.2_Intron NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 44 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 GGGACCTGCGCCCCTTCCCAG 0.488 NA 5 27 0.000602214 0.000699466 0.000602 1 0 RAB3B 5865 broad.mit.edu 37 1 52403027 52403027 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:52403027T>A uc001cth.2 - 3 411 c.286A>T c.(286-288)ATG>TTG p.M96L NM_002867 NP_002858 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 96 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1) 1 ATGAAGCCCATGGCCCCACGG 0.433 NA 15 114 0 0 0.00499 0 0 USP1 7398 broad.mit.edu 37 1 62915921 62915921 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:62915921G>A uc001daj.1 + 9 1955 c.1627G>A c.(1627-1629)GAT>AAT p.D543N USP1_uc001dak.1_Missense_Mutation_p.D543N|USP1_uc001dal.1_Missense_Mutation_p.D543N NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 543 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) CCAAAGGTTTGATTGTTATGG 0.363 Ovarian(122;1846 2315 3982 19504) NA 7 109 0 0 0.004482 0 0 NEGR1 257194 broad.mit.edu 37 1 72400931 72400931 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:72400931C>A uc001dfw.2 - 2 340 c.240G>T c.(238-240)GCG>GCT p.A80A NEGR1_uc001dfv.2_5'UTR|NEGR1_uc010oqs.1_Silent_p.A80A NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 80 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TATCACCTCCCGCAAAAATAA 0.398 NA 15 67 4.7546e-09 6.94618e-09 0.004007 1 0 COL11A1 1301 broad.mit.edu 37 1 103428231 103428231 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:103428231G>T uc001dul.2 - 39 3320 c.3002C>A c.(3001-3003)GCT>GAT p.A1001D COL11A1_uc001duk.2_Missense_Mutation_p.A197D|COL11A1_uc001dum.2_Missense_Mutation_p.A1013D|COL11A1_uc001dun.2_Missense_Mutation_p.A962D|COL11A1_uc009weh.2_Missense_Mutation_p.A885D NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1001 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) TTTTCCTGCAGCACCAGGAAG 0.473 NA 19 87 6.33239e-15 1.01499e-14 0.010504 1 0 SYT6 148281 broad.mit.edu 37 1 114682455 114682455 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:114682455A>G uc001eev.2 - 2 289 c.39T>C c.(37-39)TCT>TCC p.S13S NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 98 Cytoplasmic (Potential). acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGGATTAGCAGAAGAGGGAC 0.597 NA 10 189 0 0 0.001368 0 0 IGSF3 3321 broad.mit.edu 37 1 117127643 117127643 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:117127643C>A uc001egr.1 - 9 3177 c.2472G>T c.(2470-2472)GGG>GGT p.G824G IGSF3_uc001egq.1_Silent_p.G844G|IGSF3_uc001egs.1_Silent_p.G497G NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 824 Ig-like C2-type 7.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CCGACAGGTTCCCCTGGGCTT 0.562 NA 10 42 3.86212e-05 4.79347e-05 0.008291 1 0 PTGFRN 5738 broad.mit.edu 37 1 117504136 117504136 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:117504136A>G uc001egv.1 + 5 1622 c.1485A>G c.(1483-1485)ACA>ACG p.T495T NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 495 Extracellular (Potential).|Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) AGGAACATACAGACACGTTCA 0.493 NA 16 55 0 0 0.003163 0 0 HMGCS2 3158 broad.mit.edu 37 1 120298057 120298057 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:120298057G>C uc001eid.2 - 6 1231 c.1180C>G c.(1180-1182)CTG>GTG p.L394V HMGCS2_uc010oxj.1_Missense_Mutation_p.L352V|HMGCS2_uc001eie.2_Missense_Mutation_p.L302V NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 394 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CACTGGGACAGAAGCGAGGCC 0.552 NA 72 278 0 0 0.00361 0 0 NBPF7 343505 broad.mit.edu 37 1 120384050 120384050 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:120384050C>G uc010oxk.1 - 3 1133 c.512G>C c.(511-513)GGG>GCG p.G171A NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 171 cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) CAGCCTACACCCCTCAGCCAG 0.587 NA 22 119 0 0 0.001882 0 0 GJA8 2703 broad.mit.edu 37 1 147381011 147381011 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:147381011G>T uc001epu.1 + 2 992 c.929G>T c.(928-930)GGG>GTG p.G310V NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 310 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GGACCCCTGGGGGACTTGTCC 0.617 Melanoma(76;1255 1795 8195 52096) NA 6 30 0.00116845 0.00133503 0.001168 1 0 FLG 2312 broad.mit.edu 37 1 152276020 152276020 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:152276020G>T uc001ezu.1 - 3 11378 c.11342C>A c.(11341-11343)TCT>TAT p.S3781Y NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3781 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) TGAGTGTCCAGACCTATCTAC 0.577 NA Ichthyosis 137 412 5.26942e-46 9.3549e-46 0.00361 1 0 FLG2 388698 broad.mit.edu 37 1 152325492 152325492 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:152325492G>C uc001ezw.3 - 3 4843 c.4770C>G c.(4768-4770)CAC>CAG p.H1590Q uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1590 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGTGGTCTGTGTGAGCCCC 0.512 NA 46 286 0 0 0.002522 0 0 LCE2C 353140 broad.mit.edu 37 1 152648533 152648533 + Silent SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:152648533C>G uc001fah.2 + 2 97 c.42C>G c.(40-42)CCC>CCG p.P14P NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 14 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCCcctcccaagtgtcctc 0.338 NA 21 109 0 0 0.00278 0 0 SLC39A1 27173 broad.mit.edu 37 1 153932916 153932916 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:153932916G>A uc001fdh.2 - 4 802 c.633C>T c.(631-633)TGC>TGT p.C211C CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Silent_p.C211C|SLC39A1_uc001fdj.2_Silent_p.C211C|SLC39A1_uc001fdk.2_Silent_p.C211C|SLC39A1_uc010pee.1_Silent_p.C109C|SLC39A1_uc001fdl.2_Silent_p.C211C NM_014437 NP_055252 Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), 211 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) GCAAAGCCAGGCACAGCTCCA 0.662 NA 3 43 0 0 0.004672 0 0 CD5L 922 broad.mit.edu 37 1 157805847 157805847 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:157805847C>A uc001frk.3 - 3 297 c.154G>T c.(154-156)GGC>TGC p.G52C NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 52 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATGTCCCAGCCGTCATCACAC 0.617 NA 28 139 2.41591e-17 3.97456e-17 0.004656 1 0 SPTA1 6708 broad.mit.edu 37 1 158627350 158627350 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:158627350G>T uc001fst.1 - 19 2921 c.2722C>A c.(2722-2724)CTG>ATG p.L908M NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 908 Spectrin 10. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GCTTCATGCAGGTCAGCCAGG 0.483 NA 28 148 1.2476e-16 2.0346e-16 0.00632 1 0 SPTA1 6708 broad.mit.edu 37 1 158632506 158632506 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:158632506G>C uc001fst.1 - 17 2649 c.2450C>G c.(2449-2451)ACT>AGT p.T817S NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 817 Spectrin 9. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTAGGTGGAAGTAGCTGAGGG 0.498 NA 4 69 0 0 0.009096 0 0 OR6K2 81448 broad.mit.edu 37 1 158670176 158670176 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:158670176C>T uc001fsu.1 - 1 267 c.267G>A c.(265-267)AGG>AGA p.R89R NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AGGAAATGCTCCTCTCACTAA 0.458 NA 15 82 0 0 0.004007 0 0 FCER1A 2205 broad.mit.edu 37 1 159275977 159275977 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:159275977G>T uc001ftq.2 + 5 630 c.531G>T c.(529-531)ACG>ACT p.T177T NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 177 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) ACTACTGTACGGGCAAAGTGT 0.438 NA 32 81 2.08457e-15 3.36047e-15 0.002096 1 0 VANGL2 57216 broad.mit.edu 37 1 160388876 160388876 + Nonsense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:160388876A>T uc001fwb.1 + 5 576 c.277A>T c.(277-279)AAG>TAG p.K93* VANGL2_uc001fwc.1_Nonsense_Mutation_p.K93* NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 93 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACGCATCGCCAAGGACATGGA 0.612 NA 6 124 0 0 0.001168 0 0 ASTN1 460 broad.mit.edu 37 1 176863929 176863929 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:176863929T>A uc001glc.2 - 17 2921 c.2709A>T c.(2707-2709)AGA>AGT p.R903S ASTN1_uc001glb.1_Missense_Mutation_p.R903S|ASTN1_uc001gld.1_Missense_Mutation_p.R903S NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 911 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CCTTGGGGTCTCTTTCCCGCT 0.522 NA 41 158 0 0 0.00361 0 0 TPR 7175 broad.mit.edu 37 1 186286693 186286693 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:186286693C>G uc001grv.2 - 49 7158 c.6861G>C c.(6859-6861)CAG>CAC p.Q2287H NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 2287 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GCTCTTCTTCCTGCTGGCTAT 0.438 NA T NTRK1 papillary thyroid 13 59 0 0 0.00245 0 0 CFHR2 3080 broad.mit.edu 37 1 196928191 196928191 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:196928191C>A uc001gtq.1 + 5 871 c.794C>A c.(793-795)CCC>CAC p.P265H CFHR2_uc001gtr.1_Missense_Mutation_p.P141H NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 265 Sushi 4. extracellular region skin(2)|ovary(1) 3 CTGGTATATCCCAGTTGTGAA 0.303 NA 10 53 3.07112e-06 4.11193e-06 0.000978 1 0 LRRN2 10446 broad.mit.edu 37 1 204588512 204588512 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:204588512G>T uc001hbe.1 - 3 997 c.609C>A c.(607-609)GCC>GCA p.A203A MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.A203A|LRRN2_uc009xbf.1_Silent_p.A203A|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 203 Extracellular (Potential).|LRR 6. cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGTCCAGGATGGCATCTACCT 0.582 NA 17 63 2.48551e-13 3.9278e-13 0.00499 1 0 MARK1 4139 broad.mit.edu 37 1 220752872 220752872 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:220752872G>T uc001hmn.3 + 2 825 c.228G>T c.(226-228)TTG>TTT p.L76F MARK1_uc001hml.2_Missense_Mutation_p.L76F|MARK1_uc009xdw.2_Missense_Mutation_p.L76F|MARK1_uc010pun.1_Missense_Mutation_p.L76F|MARK1_uc001hmm.3_Missense_Mutation_p.L76F NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 76 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) AAGTCAAATTGGCAAGACACG 0.408 NA 12 68 1.49906e-05 1.92884e-05 0.00245 1 0 OBSCN 84033 broad.mit.edu 37 1 228471364 228471364 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:228471364G>T uc009xez.1 + 33 8942 c.8898G>T c.(8896-8898)GAG>GAT p.E2966D OBSCN_uc001hsn.2_Missense_Mutation_p.E2966D|OBSCN_uc001hsp.1_Missense_Mutation_p.E665D|OBSCN_uc001hsq.1_Missense_Mutation_p.E222D NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2966 Ig-like 29. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCAGCCAGGAGGGCCTGACCC 0.667 NA 20 39 8.00594e-06 1.05678e-05 0.007413 1 0 DISC1 27185 broad.mit.edu 37 1 232172460 232172460 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:232172460G>A uc001huz.2 + 13 2501 c.2448G>A c.(2446-2448)CAG>CAA p.Q816Q DISC1_uc001hva.2_Silent_p.Q794Q NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 816 Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with NDEL1.|Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Potential. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) GGGAGCTCCAGATGGTGAAGG 0.582 NA 3 18 0 0 0.004672 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394396 233394396 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:233394396G>A uc001hvl.2 - 5 1447 c.1212C>T c.(1210-1212)ACC>ACT p.T404T PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 404 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) ACTTTACACTGGTCTTCTCTG 0.527 NA 7 130 0 0 0.001984 0 0 LYST 1130 broad.mit.edu 37 1 235860531 235860531 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:235860531G>A uc001hxj.2 - 46 10591 c.10416C>T c.(10414-10416)TAC>TAT p.Y3472Y LYST_uc001hxi.2_Silent_p.Y696Y NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3472 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGGAACCCACGTATTCCCCCC 0.463 NA Chediak-Higashsyndrome 7 49 0 0 0.001984 0 0 NID1 4811 broad.mit.edu 37 1 236201523 236201523 + Missense_Mutation SNP G G A rs142155830 byFrequency TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:236201523G>A uc001hxo.2 - 5 1268 c.1166C>T c.(1165-1167)ACG>ATG p.T389M NID1_uc009xgd.2_Missense_Mutation_p.T389M NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 389 EGF-like 1. 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) GTTAGCACACGTCTGGCGGGA 0.552 NA 5 109 0 0 0.000602 0 0 RYR2 6262 broad.mit.edu 37 1 237551440 237551440 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:237551440T>A uc001hyl.1 + 10 850 c.730T>A c.(730-732)TGT>AGT p.C244S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 244 Cytoplasmic (By similarity).|MIR 3. 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) CATGGACGAGTGTCTCACTGT 0.443 NA 11 33 0 0 0.008291 0 0 GREM2 64388 broad.mit.edu 37 1 240656352 240656352 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:240656352G>T uc001hys.2 - 2 704 c.424C>A c.(424-426)CCA>ACA p.P142T NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 142 CTCK. BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CGGAAGGGTGGGTCCAGGCCG 0.642 NA 23 81 1.33986e-20 2.30571e-20 0.004656 1 0 PLD5 200150 broad.mit.edu 37 1 242383324 242383324 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:242383324C>A uc001hzn.1 - 5 828 c.701G>T c.(700-702)GGC>GTC p.G234V PLD5_uc001hzl.3_Missense_Mutation_p.G172V|PLD5_uc001hzm.3_Missense_Mutation_p.G24V|PLD5_uc001hzo.1_Missense_Mutation_p.G142V Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 234 PLD phosphodiesterase 1. integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ACCGGCACTGCCGATATACAC 0.517 NA 10 56 3.86212e-05 4.79347e-05 0.008291 1 0 PLD5 200150 broad.mit.edu 37 1 242383405 242383405 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:242383405G>A uc001hzn.1 - 5 747 c.620C>T c.(619-621)ACG>ATG p.T207M PLD5_uc001hzl.3_Missense_Mutation_p.T145M|PLD5_uc001hzm.3_Translation_Start_Site|PLD5_uc001hzo.1_Missense_Mutation_p.T115M Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 207 integral to membrane catalytic activity p.T115M(1) ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GTTCATGTACGTCACCTCGGC 0.557 NA 18 54 0 0 0.00499 0 0 PLD5 200150 broad.mit.edu 37 1 242428646 242428646 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:242428646T>A uc001hzn.1 - 4 727 c.600A>T c.(598-600)AAA>AAT p.K200N PLD5_uc001hzl.3_Missense_Mutation_p.K138N|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_Missense_Mutation_p.K108N Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 200 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TACCCTTTAATTTCAAGGCTT 0.333 NA 8 104 0 0 0.006214 0 0 KIF26B 55083 broad.mit.edu 37 1 245850143 245850143 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:245850143C>A uc001ibf.1 + 12 4298 c.3858C>A c.(3856-3858)AGC>AGA p.S1286R KIF26B_uc001ibg.1_Missense_Mutation_p.S904R|KIF26B_uc001ibh.1_Missense_Mutation_p.S528R NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1286 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCGAGATGAGCGCGGGCAGTG 0.602 NA 4 23 3.59834e-05 4.51603e-05 0.001168 1 0 SCCPDH 51097 broad.mit.edu 37 1 246927551 246927551 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:246927551G>A uc001ibr.2 + 10 1341 c.994G>A c.(994-996)GAT>AAT p.D332N NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 332 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ovary(1) 1 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) TTCACAGATTGATGCTGCCTC 0.403 NA 12 92 0 0 0.001368 0 0 NLRP3 114548 broad.mit.edu 37 1 247588044 247588044 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:247588044C>A uc001icr.2 + 5 1437 c.1299C>A c.(1297-1299)GCC>GCA p.A433A NLRP3_uc001ics.2_Silent_p.A433A|NLRP3_uc001icu.2_Silent_p.A433A|NLRP3_uc001icw.2_Silent_p.A433A|NLRP3_uc001icv.2_Silent_p.A433A|NLRP3_uc010pyw.1_Silent_p.A431A|NLRP3_uc001ict.1_Silent_p.A431A NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 433 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGAGCCTTGCCCAGACATCCA 0.602 NA 15 34 2.32078e-09 3.44434e-09 0.003163 1 0 OR2W3 343171 broad.mit.edu 37 1 248059379 248059379 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:248059379T>A uc001idp.1 + 3 760 c.491T>A c.(490-492)CTG>CAG p.L164Q OR2W3_uc010pzb.1_Missense_Mutation_p.L164Q NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCTGTGACCCTGCGCTTACCC 0.642 NA 14 58 0 0 0.003163 0 0 OR2M4 26245 broad.mit.edu 37 1 248402653 248402653 + Silent SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:248402653T>C uc010pzh.1 + 1 423 c.423T>C c.(421-423)TGT>TGC p.C141C NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CGAAACTCTGTGTCTTCATGA 0.468 NA 18 134 0 0 0.006122 0 0 OR2T6 254879 broad.mit.edu 37 1 248550949 248550949 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:248550949C>T uc001iei.1 + 1 40 c.40C>T c.(40-42)CTC>TTC p.L14F NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGCTTTACCCTCATGGGGCT 0.418 NA 50 103 0 0 0.00361 0 0 KIN 22944 broad.mit.edu 37 10 7804421 7804421 + Silent SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:7804421T>A uc001ijt.2 - 11 1065 c.1017A>T c.(1015-1017)CCA>CCT p.P339P KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Silent_p.P339P|KIN_uc010qba.1_Silent_p.P233P NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 339 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CAGATTTACCTGGTGCTGGAA 0.363 NA 12 106 0 0 0.001368 0 0 FAM171A1 221061 broad.mit.edu 37 10 15290756 15290756 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:15290756G>T uc001iob.2 - 5 643 c.636C>A c.(634-636)AGC>AGA p.S212R NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 212 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 TTCCATTACTGCTCAGCAAGT 0.572 NA 9 56 0.000274275 0.000324617 0.004482 1 0 ITGA8 8516 broad.mit.edu 37 10 15639265 15639265 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:15639265C>G uc001ioc.1 - 21 2152 c.2152G>C c.(2152-2154)GAA>CAA p.E718Q ITGA8_uc010qcb.1_Missense_Mutation_p.E703Q NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 718 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GTTACATTTTCCATCTTGTAC 0.448 NA 6 106 0 0 0.001984 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17362912 17362912 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:17362912G>C uc001ipd.2 - 8 1162 c.1162C>G c.(1162-1164)CTC>GTC p.L388V ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 388 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 TGCAGTTTGAGGATTCCTTTC 0.363 NA 22 271 0 0 0.00278 0 0 NSUN6 221078 broad.mit.edu 37 10 18940128 18940128 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:18940128G>C uc010qcp.1 - 1 423 c.5C>G c.(4-6)TCT>TGT p.S2C NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 2 methyltransferase activity|RNA binding ovary(2) 2 AGGGAAAATAGACATTTTTCC 0.343 NA 9 102 0 0 0.000978 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820036 50820036 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:50820036A>T uc001jhw.2 + 1 1690 c.1250A>T c.(1249-1251)TAT>TTT p.Y417F CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 417 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GTCTCAGTCTATGGCAGCGTC 0.612 NA 3 21 0 0 0.004672 0 0 PCDH15 65217 broad.mit.edu 37 10 55582022 55582022 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:55582022G>C uc001jju.1 - 33 5859 c.5464C>G c.(5464-5466)CCT>GCT p.P1822A PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1819A|PCDH15_uc010qhw.1_Missense_Mutation_p.P1782A|PCDH15_uc010qhx.1_Missense_Mutation_p.P1753A|PCDH15_uc010qhy.1_Missense_Mutation_p.P1829A|PCDH15_uc010qhz.1_Missense_Mutation_p.P1824A|PCDH15_uc010qia.1_Missense_Mutation_p.P1802A|PCDH15_uc010qib.1_Missense_Mutation_p.P1799A NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1822 Poly-Pro.|Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) atagaaggaggtggtggagga 0.249 NA HNSCC(58;0.16) 4 59 0 0 0.009096 0 0 MYPN 84665 broad.mit.edu 37 10 69957180 69957180 + Missense_Mutation SNP A A C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:69957180A>C uc001jnm.3 + 17 3415 c.3230A>C c.(3229-3231)CAG>CCG p.Q1077P MYPN_uc001jnn.3_Missense_Mutation_p.Q802P|MYPN_uc001jno.3_Missense_Mutation_p.Q1077P|MYPN_uc009xpt.2_Missense_Mutation_p.Q1077P|MYPN_uc010qit.1_Missense_Mutation_p.Q783P|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1077 Ig-like 4.|Interaction with ACTN. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CATTTCCTGCAGGCTCCTGGG 0.488 NA 14 168 0 0 0.004007 0 0 SAR1A 56681 broad.mit.edu 37 10 71913618 71913618 + Silent SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:71913618C>G uc010qjh.1 - 7 659 c.456G>C c.(454-456)GGG>GGC p.G152G SAR1A_uc010qji.1_Silent_p.G152G|SAR1A_uc010qjj.1_Silent_p.G109G NM_001142648 NP_001136120 Q9NR31 SAR1A_HUMAN SAR1a gene homolog 1 152 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity 0 GTCCATAAAGCCCAAATATCT 0.343 NA 16 352 0 0 0.00499 0 0 FUT11 170384 broad.mit.edu 37 10 75533453 75533453 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:75533453A>T uc001jva.2 + 2 1257 c.1214A>T c.(1213-1215)CAC>CTC p.H405L FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Missense_Mutation_p.H405L NM_173540 NP_775811 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) 405 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 Prostate(51;0.0112) GAGAAAGCCCACGCGGCCTCT 0.597 NA 7 76 0 0 0.001984 0 0 HECTD2 143279 broad.mit.edu 37 10 93220264 93220264 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:93220264G>T uc001khl.2 + 3 449 c.349G>T c.(349-351)GCC>TCC p.A117S LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khk.2_Missense_Mutation_p.A117S|HECTD2_uc010qnm.1_Missense_Mutation_p.A117S|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'Flank NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 117 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 CGAAATGAAGGCCCCAGTCCT 0.393 NSCLC(12;376 469 1699 39910 41417) NA 30 125 2.4375e-19 4.13123e-19 0.007291 1 0 BTRC 8945 broad.mit.edu 37 10 103292158 103292158 + Missense_Mutation SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:103292158T>C uc001kta.2 + 8 1060 c.947T>C c.(946-948)ATA>ACA p.I316T BTRC_uc001ktb.2_Missense_Mutation_p.I280T|BTRC_uc001ktc.2_Missense_Mutation_p.I290T NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 316 WD 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) GATCAGAAAATAGTAAGCGGC 0.413 NA 10 112 0 0 0.000978 0 0 CCDC147 159686 broad.mit.edu 37 10 106209934 106209934 + Missense_Mutation SNP G G T rs138183014 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:106209934G>T uc001kyh.2 + 17 2616 c.2482G>T c.(2482-2484)GCT>TCT p.A828S NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 828 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAAATACCTCGCTCAGAAACG 0.323 NA 17 80 3.45872e-05 4.40986e-05 0.004007 1 0 SORCS1 114815 broad.mit.edu 37 10 108923853 108923853 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:108923853C>G uc001kym.2 - 1 440 c.432G>C c.(430-432)GAG>GAC p.E144D SORCS1_uc001kyl.2_Missense_Mutation_p.E144D|SORCS1_uc009xxs.2_Missense_Mutation_p.E144D|SORCS1_uc001kyn.1_Missense_Mutation_p.E144D|SORCS1_uc001kyo.2_Missense_Mutation_p.E144D NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 144 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) CCGGGTCCCGCTCCCGAGTCC 0.662 NA 6 39 0 0 0.00308 0 0 HABP2 3026 broad.mit.edu 37 10 115334134 115334134 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:115334134C>A uc001lai.3 + 3 296 c.193C>A c.(193-195)CCT>ACT p.P65T HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Silent_p.I53I NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 65 cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CGCTGAGAATCCTGACTGGTA 0.507 NA 18 95 1.99824e-07 2.78858e-07 0.00499 1 0 PNLIPRP3 119548 broad.mit.edu 37 10 118220524 118220524 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:118220524C>A uc001lcl.3 + 6 713 c.612C>A c.(610-612)GTC>GTA p.V204V NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 204 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) CAAAGGAAGTCAGGCTAGACC 0.438 NA 12 76 4.36969e-10 6.58978e-10 0.001855 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118360618 118360618 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:118360618C>T uc001lco.1 + 10 986 c.968C>T c.(967-969)CCA>CTA p.P323L PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P323L NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 323 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) CAAGGATGCCCACAGATGGGT 0.443 NA 5 118 0 0 0.001984 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118386413 118386414 + Missense_Mutation DNP GG GG CA TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:118386413_118386414GG>CA uc001lcq.2 + 7 395_396 c.372_373GG>CA c.(370-375)GTGGAC>GTCAAC p.D125N PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 124 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) GCATCTGTGTGGACTGGAGGCA 0.505 NA 3 18 0 0 0.004672 0 0 DMBT1 1755 broad.mit.edu 37 10 124345771 124345771 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr10:124345771G>T uc001lgk.1 + 16 1761 c.1655G>T c.(1654-1656)GGC>GTC p.G552V DMBT1_uc001lgl.1_Missense_Mutation_p.G542V|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G552V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 552 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTTGGTCAGGGCTCAGGACCC 0.592 Ovarian(182;93 2026 18125 22222 38972) NA 20 187 1.37522e-17 2.28255e-17 0.007413 1 0 PSMD13 5719 broad.mit.edu 37 11 249047 249047 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:249047G>T uc001lol.2 + 9 1006 c.764G>T c.(763-765)TGG>TTG p.W255L PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Missense_Mutation_p.W257L|PSMD13_uc001lon.2_Missense_Mutation_p.W190L|PSMD13_uc001lom.2_Missense_Mutation_p.W230L|PSMD13_uc001lop.2_Missense_Mutation_p.W38L NM_002817 NP_002808 Q9UNM6 PSD13_HUMAN proteasome 26S non-ATPase subunit 13 isoform 1 255 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding ovary(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) AAGACTGCCTGGGGCCAGCAG 0.438 NA 11 31 4.3838e-07 6.07238e-07 0.001855 1 0 OR51F1 256892 broad.mit.edu 37 11 4790230 4790230 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:4790230G>A uc010qyl.1 - 1 918 c.918C>T c.(916-918)CTC>CTT p.L306L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 306 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GCAGCAGACTGAGCATAGCCT 0.418 NA 6 77 0 0 0.001168 0 0 OR51F2 119694 broad.mit.edu 37 11 4843470 4843470 + Missense_Mutation SNP T T G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:4843470T>G uc010qyn.1 + 1 855 c.855T>G c.(853-855)TTT>TTG p.F285L NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 285 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCTCCATTTGTCCACATCA 0.443 NA 16 102 0 0 0.010504 0 0 OR52B2 255725 broad.mit.edu 37 11 6191076 6191076 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:6191076C>A uc010qzy.1 - 1 481 c.481G>T c.(481-483)GTC>TTC p.V161F NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 161 Helical; Name=4; (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;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGAATATGACTGGGAAGATG 0.507 NSCLC(5;186 261 1778 7098 14207) NA 10 27 1.58986e-06 2.16484e-06 0.008291 1 0 NLRP14 338323 broad.mit.edu 37 11 7070935 7070935 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:7070935G>T uc001mfb.1 + 6 2480 c.2157G>T c.(2155-2157)CAG>CAT p.Q719H NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 719 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGGTTGTCAGGATATCTCTA 0.383 NA 33 138 4.74835e-14 7.54625e-14 0.002096 1 0 KCNA4 3739 broad.mit.edu 37 11 30032822 30032822 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:30032822G>T uc001msk.2 - 2 2556 c.1404C>A c.(1402-1404)GGC>GGA p.G468G NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 468 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGAGGGTGTGGCCCAGGATCT 0.537 NA 4 74 0.00909568 0.00994674 0.009096 1 0 C11orf46 120534 broad.mit.edu 37 11 30352778 30352778 + Missense_Mutation SNP T T G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:30352778T>G uc001mso.1 + 2 447 c.283T>G c.(283-285)TTA>GTA p.L95V NM_152316 NP_689529 Q8N8R7 CK046_HUMAN hypothetical protein LOC120534 95 0 TGTAATTGACTTAGATGATGC 0.348 NA 9 210 0 0 0.000978 0 0 WT1 7490 broad.mit.edu 37 11 32413601 32413601 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:32413601G>T uc001mtn.1 - 9 1545 c.1349C>A c.(1348-1350)CCA>CAA p.P450Q WT1_uc001mtl.1_Missense_Mutation_p.P238Q|WT1_uc001mtm.1_Missense_Mutation_p.P221Q|WT1_uc001mto.1_Missense_Mutation_p.P450Q|WT1_uc001mtp.1_Missense_Mutation_p.P433Q|WT1_uc001mtq.1_Missense_Mutation_p.P433Q|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 382 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V380_S410del(1) EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) ACACTGGAATGGTTTCACACC 0.522 NA D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 33 194 1.36615e-20 2.34375e-20 0.002836 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136858 40136858 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:40136858G>A uc001mxa.1 - 2 2949 c.985C>T c.(985-987)CGG>TGG p.R329W LRRC4C_uc001mxc.1_Missense_Mutation_p.R325W|LRRC4C_uc001mxd.1_Missense_Mutation_p.R325W|LRRC4C_uc001mxb.1_Missense_Mutation_p.R325W NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 329 LRRCT. 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) GTGTTACACCGGGCACAACAA 0.502 NA 4 44 0 0 0.009096 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137192 40137192 + Silent SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:40137192C>G uc001mxa.1 - 2 2615 c.651G>C c.(649-651)CCG>CCC p.P217P LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxb.1_Silent_p.P213P NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 217 LRR 6. 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) GTTTTATGAGCGGTGTGAGGT 0.458 NA 19 93 0 0 0.008871 0 0 OR4A47 403253 broad.mit.edu 37 11 48511136 48511136 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:48511136C>T uc010rhx.1 + 1 792 c.792C>T c.(790-792)CCC>CCT p.P264P NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGACCTTCCCCATTGACAAAT 0.423 NA 13 407 0 0 0.00245 0 0 TRIM48 79097 broad.mit.edu 37 11 55032690 55032690 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:55032690G>T uc010rid.1 + 2 445 c.359G>T c.(358-360)TGT>TTT p.C120F NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 104 B box-type. intracellular zinc ion binding 0 AAGATGTTCTGTGAAGTGGAC 0.537 NA 9 60 0.00448238 0.00502923 0.004482 1 0 TRIM48 79097 broad.mit.edu 37 11 55036774 55036774 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:55036774G>A uc010rid.1 + 5 721 c.635G>A c.(634-636)GGG>GAG p.G212E NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 196 intracellular zinc ion binding 0 CTCAGGGCAGGGCCCATCACT 0.502 NA 3 53 0 0 0.009096 0 0 OR4C15 81309 broad.mit.edu 37 11 55322383 55322383 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:55322383G>A uc010rig.1 + 1 601 c.601G>A c.(601-603)GCC>ACC p.A201T NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GATGGGGGTAGCCTGGACAGG 0.473 NA HNSCC(20;0.049) 23 79 0 0 0.00278 0 0 OR4C16 219428 broad.mit.edu 37 11 55340091 55340091 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:55340091G>T uc010rih.1 + 1 488 c.488G>T c.(487-489)AGT>ATT p.S163I NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) CTTGCCCTGAGTTTGCCATTC 0.468 NA 38 156 8.16277e-20 1.39613e-19 0.006999 1 0 OR5D14 219436 broad.mit.edu 37 11 55563864 55563864 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:55563864T>A uc010rim.1 + 1 833 c.833T>A c.(832-834)GTA>GAA p.V278E NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) GTGGCCTCTGTATTTTACACA 0.438 NA 4 84 0 0 0.009096 0 0 OR5I1 10798 broad.mit.edu 37 11 55703071 55703071 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:55703071G>A uc010ris.1 - 1 806 c.806C>T c.(805-807)TCT>TTT p.S269F NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGTGTTTGGAGAATACAGGTA 0.408 NA 7 35 0 0 0.00308 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735247 55735247 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:55735247G>A uc010rit.1 - 1 693 c.693C>T c.(691-693)ACC>ACT p.T231T NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 231 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GAGATGAGCAGGTGGAGAAGG 0.403 NA 13 54 0 0 0.001368 0 0 OR5T3 390154 broad.mit.edu 37 11 56020011 56020011 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:56020011G>T uc010rjd.1 + 1 336 c.336G>T c.(334-336)TTG>TTT p.L112F NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 112 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) CAAAAATGTTGGTCAATTTCC 0.358 NA 41 154 1.57019e-19 2.66933e-19 0.007835 1 0 OR9G9 504191 broad.mit.edu 37 11 56468089 56468089 + Missense_Mutation SNP T T A rs62619921 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:56468089T>A uc010rjn.1 + 1 226 c.226T>A c.(226-228)TAC>AAC p.Y76N NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCTTCTGTCTACACCCCAAA 0.478 NA 14 81 0 0 0.003163 0 0 EFEMP2 30008 broad.mit.edu 37 11 65635362 65635362 + Silent SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:65635362A>T uc001ofy.3 - 10 1334 c.1140T>A c.(1138-1140)GCT>GCA p.A380A EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.A380A NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 380 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) GCGAGTTTCCAGCACGGATCT 0.547 NA 31 84 0 0 0.003755 0 0 DPP3 10072 broad.mit.edu 37 11 66272113 66272113 + Missense_Mutation SNP G G C rs35493089 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:66272113G>C uc001oig.1 + 17 1971 c.1909G>C c.(1909-1911)GGG>CGG p.G637R DPP3_uc001oif.1_Missense_Mutation_p.G637R|DPP3_uc010rpe.1_Missense_Mutation_p.G626R|DPP3_uc001oih.1_Missense_Mutation_p.E4D NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 637 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 TGTGGCCGGAGGGCGGGCCCT 0.607 NA 10 86 0 0 0.008291 0 0 NUDT8 254552 broad.mit.edu 37 11 67395479 67395479 + Nonsense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:67395479T>A uc001omo.1 - 4 668 c.649A>T c.(649-651)AAG>TAG p.K217* NUDT8_uc001omn.2_3'UTR NM_181843 NP_862826 Q8WV74 NUDT8_HUMAN nudix-type motif 8 217 mitochondrion hydrolase activity|metal ion binding 0 AGGGGCTGCTTAGGGCGGGCC 0.617 NA 7 23 0 0 0.00308 0 0 TRIM49 57093 broad.mit.edu 37 11 89537473 89537473 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:89537473G>A uc001pdb.2 - 3 494 c.165C>T c.(163-165)TGC>TGT p.C55C NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 55 RING-type. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTGACTTTGTGCATTCAGAGC 0.468 NA 17 92 0 0 0.00278 0 0 FAT3 120114 broad.mit.edu 37 11 92534672 92534672 + Silent SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:92534672C>G uc001pdj.3 + 9 8510 c.8493C>G c.(8491-8493)ACC>ACG p.T2831T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2831 Cadherin 26.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGTTGGCACCAAACTCACAC 0.448 NA TCGA Ovarian(4;0.039) 9 7 0 0 0.004482 0 0 DIXDC1 85458 broad.mit.edu 37 11 111864309 111864309 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:111864309C>A uc001pml.2 + 14 1659 c.1362C>A c.(1360-1362)CAC>CAA p.H454Q DIXDC1_uc001pmm.2_Missense_Mutation_p.H243Q|DIXDC1_uc001pmn.2_Missense_Mutation_p.H160Q|DIXDC1_uc010rwq.1_Missense_Mutation_p.H119Q NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 454 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) TCAGTTACCACCAGGTCAGAA 0.473 NA 20 73 1.00905e-13 1.59908e-13 0.008871 1 0 DSCAML1 57453 broad.mit.edu 37 11 117310107 117310107 + Missense_Mutation SNP C C A rs61730454 byFrequency TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:117310107C>A uc001prh.1 - 23 4201 c.4199G>T c.(4198-4200)CGG>CTG p.R1400L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1340 Extracellular (Potential).|Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGGATGAGCCGGTGCCCATC 0.622 NA 20 46 8.34094e-07 1.14128e-06 0.008871 1 0 OR10G4 390264 broad.mit.edu 37 11 123886884 123886884 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:123886884C>T uc010sac.1 + 1 603 c.603C>T c.(601-603)GAC>GAT p.D201D NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCTTTGTGGACATTGGGATAG 0.562 NA 16 98 0 0 0.002836 0 0 OR10G4 390264 broad.mit.edu 37 11 123886904 123886904 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:123886904G>C uc010sac.1 + 1 623 c.623G>C c.(622-624)GGC>GCC p.G208A NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G208G(1) skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTGGCCTCAGGCTGCTTTGTC 0.562 NA 16 88 0 0 0.002096 0 0 FGF23 8074 broad.mit.edu 37 12 4488554 4488554 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:4488554G>T uc001qmq.1 - 1 341 c.195C>A c.(193-195)CCC>CCA p.P65P NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 65 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TGGTCTGATGGGGTGCGCCAT 0.587 NA 5 115 4.096e-09 6.01533e-09 0.001168 1 0 CD163 9332 broad.mit.edu 37 12 7639558 7639558 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:7639558G>T uc001qsz.3 - 9 2203 c.2075C>A c.(2074-2076)TCG>TAG p.S692* CD163_uc001qta.3_Nonsense_Mutation_p.S692*|CD163_uc009zfw.2_Nonsense_Mutation_p.S725* NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 692 Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TGAATTGCACGAGGACAGTGT 0.438 NA 11 47 3.86212e-05 4.79347e-05 0.008291 1 0 PDE3A 5139 broad.mit.edu 37 12 20803388 20803388 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:20803388G>A uc001reh.1 + 14 2801 c.2779G>A c.(2779-2781)GAT>AAT p.D927N NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 927 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTAAATGATGATGTTGGAAT 0.294 NA 145 80 0 0 0.00361 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20874923 20874923 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:20874923G>T uc001rej.3 + 9 1316 c.961G>T c.(961-963)GAT>TAT p.D321Y SLCO1C1_uc010sii.1_Missense_Mutation_p.D321Y|SLCO1C1_uc010sij.1_Missense_Mutation_p.D272Y|SLCO1C1_uc009zip.2_Missense_Mutation_p.D155Y|SLCO1C1_uc001rei.2_Missense_Mutation_p.D321Y|SLCO1C1_uc010sik.1_Missense_Mutation_p.D203Y NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 321 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TATTATAGATGATCACACAGA 0.358 NA 6 105 3.59834e-05 4.51603e-05 0.001168 1 0 SLCO1A2 6579 broad.mit.edu 37 12 21428305 21428305 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:21428305G>C uc001rer.2 - 12 1915 c.1664C>G c.(1663-1665)ACA>AGA p.T555R SLCO1A2_uc001res.2_Missense_Mutation_p.T555R|SLCO1A2_uc010siq.1_Missense_Mutation_p.T423R|SLCO1A2_uc010sio.1_Missense_Mutation_p.T423R|SLCO1A2_uc010sip.1_Missense_Mutation_p.T423R|SLCO1A2_uc001ret.2_Missense_Mutation_p.T553R NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 555 Helical; Name=11; (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 AAATACTCTTGTGCAAAATGT 0.214 NA 5 56 0 0 0.001984 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:25398284C>G uc001rgp.1 - 2 216 c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 22 32 0 0 0.00278 0 0 ITPR2 3709 broad.mit.edu 37 12 26493144 26493144 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:26493144G>C uc001rhg.2 - 56 8392 c.7975C>G c.(7975-7977)CTG>GTG p.L2659V NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2659 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TGTTTGACCAGACTCATGGTC 0.547 NA 11 90 0 0 0.001855 0 0 PTHLH 5744 broad.mit.edu 37 12 28116578 28116578 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:28116578G>T uc001rik.2 - 3 530 c.227C>A c.(226-228)TCG>TAG p.S76* PTHLH_uc001ril.2_Nonsense_Mutation_p.S76*|PTHLH_uc001rim.2_Nonsense_Mutation_p.S76*|PTHLH_uc001rin.2_Nonsense_Mutation_p.S76* NM_198966 NP_945317 P12272 PTHR_HUMAN parathyroid hormone-like hormone isoform 1 76 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1) 1 Lung SC(9;0.184) GGACACCTCCGAGGTAGCTCT 0.512 NA 22 195 3.28513e-13 5.16234e-13 0.003954 1 0 OVCH1 341350 broad.mit.edu 37 12 29614829 29614829 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:29614829G>T uc001rix.1 - 19 2238 c.2238C>A c.(2236-2238)ATC>ATA p.I746I NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 746 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) AGCCAGCACAGATCATCTTCT 0.458 NA 7 164 2.7689e-08 3.98295e-08 0.001984 1 0 TMTC1 83857 broad.mit.edu 37 12 29669365 29669365 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:29669365G>A uc001rjb.2 - 15 2374 c.1900C>T c.(1900-1902)CAC>TAC p.H634Y TMTC1_uc001riz.2_Missense_Mutation_p.H391Y|TMTC1_uc001rja.2_Missense_Mutation_p.H478Y|TMTC1_uc001riy.2_Missense_Mutation_p.H87Y NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 742 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GACACAATGTGATTGGTCATC 0.468 NA 63 76 0 0 0.00361 0 0 CNTN1 1272 broad.mit.edu 37 12 41337491 41337492 + Missense_Mutation DNP GG GG TT TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:41337491_41337492GG>TT uc001rmm.1 + 13 1585_1586 c.1472_1473GG>TT c.(1471-1473)GGG>GTT p.G491V CNTN1_uc009zjy.1_Missense_Mutation_p.G491V|CNTN1_uc001rmn.1_Missense_Mutation_p.G480V|CNTN1_uc001rmo.2_Missense_Mutation_p.G491V NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 491 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AATAACAGAGGGAAAGCTAATA 0.356 NA 5 63 0 0 0.004672 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826499 43826499 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:43826499C>G uc010skx.1 - 20 2836 c.2836G>C c.(2836-2838)GAC>CAC p.D946H ADAMTS20_uc001rno.1_Missense_Mutation_p.D100H|ADAMTS20_uc001rnp.1_Missense_Mutation_p.D100H NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 946 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAGTAGTGGTCATCAACTTGA 0.423 NA 10 80 0 0 0.006214 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43925915 43925915 + Missense_Mutation SNP G G T rs80268015 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:43925915G>T uc010skx.1 - 3 537 c.537C>A c.(535-537)CAC>CAA p.H179Q NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 179 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTGGCTTGTTGTGACCATCTT 0.358 NA 12 61 2.35188e-11 3.60493e-11 0.006122 1 0 OR6C6 283365 broad.mit.edu 37 12 55688106 55688106 + Missense_Mutation SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:55688106T>C uc010sph.1 - 1 911 c.911A>G c.(910-912)CAA>CGA p.Q304R NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 CAAATTCTTTTGTAATACATC 0.303 NA 9 73 0 0 0.004482 0 0 NAV3 89795 broad.mit.edu 37 12 78452876 78452876 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:78452876G>T uc001syp.2 + 12 2790 c.2617G>T c.(2617-2619)GTG>TTG p.V873L NAV3_uc001syo.2_Missense_Mutation_p.V873L|NAV3_uc010sub.1_Missense_Mutation_p.V373L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 873 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GGTTCACGATGTGACAGTGGA 0.398 NA HNSCC(70;0.22) 8 73 1.06961e-07 1.50767e-07 0.00308 1 0 NAV3 89795 broad.mit.edu 37 12 78511934 78511934 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:78511934C>G uc001syp.2 + 14 3070 c.2897C>G c.(2896-2898)TCT>TGT p.S966C NAV3_uc001syo.2_Missense_Mutation_p.S966C|NAV3_uc010sub.1_Missense_Mutation_p.S466C|NAV3_uc009zsf.2_5'UTR NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 966 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACTGTGTCCTCTGGACTTCCT 0.542 NA HNSCC(70;0.22) 5 126 0 0 0.001168 0 0 NAV3 89795 broad.mit.edu 37 12 78569175 78569175 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:78569175G>C uc001syp.2 + 25 5244 c.5071G>C c.(5071-5073)GCC>CCC p.A1691P NAV3_uc001syo.2_Missense_Mutation_p.A1691P|NAV3_uc010sub.1_Missense_Mutation_p.A1177P|NAV3_uc009zsf.2_Missense_Mutation_p.A522P NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1691 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGGTAATGATGCCGACTCCAA 0.393 NA HNSCC(70;0.22) 5 93 0 0 0.001168 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85531700 85531700 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:85531700G>A uc001tac.2 + 19 4393 c.4282G>A c.(4282-4284)GAT>AAT p.D1428N NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1428 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TGAAGAATCCGATGAAGAATA 0.299 NA 7 98 0 0 0.001984 0 0 IGF1 3479 broad.mit.edu 37 12 102813420 102813420 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:102813420C>A uc001tjp.3 - 3 488 c.269G>T c.(268-270)GGC>GTC p.G90V IGF1_uc001tjn.2_Missense_Mutation_p.G74V|IGF1_uc001tjm.2_Missense_Mutation_p.G90V|IGF1_uc001tjo.2_Missense_Mutation_p.G90V NM_001111285 NP_001104755 P05019 IGF1_HUMAN insulin-like growth factor 1 isoform 3 90 A. anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|pancreas(1) 2 ATCCACGATGCCTGTCTGAGG 0.572 NA 6 49 0.00116845 0.00133503 0.001168 1 0 WSCD2 9671 broad.mit.edu 37 12 108600180 108600180 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:108600180G>T uc001tms.2 + 3 1241 c.497G>T c.(496-498)CGG>CTG p.R166L WSCD2_uc001tmt.2_Missense_Mutation_p.R166L NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 166 WSC 1. integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 TGTGCTGAACGGTAGGGTCCC 0.527 NA 4 37 1.23904e-05 1.60532e-05 0.000602 1 0 CCDC63 160762 broad.mit.edu 37 12 111296569 111296569 + Missense_Mutation SNP T T G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:111296569T>G uc001trv.1 + 4 554 c.359T>G c.(358-360)CTG>CGG p.L120R CCDC63_uc009zvt.1_Missense_Mutation_p.L35R|CCDC63_uc010sye.1_Missense_Mutation_p.L80R|CCDC63_uc001trw.1_Missense_Mutation_p.L35R NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 120 Potential. skin(6)|ovary(1)|pancreas(1) 8 TTGGCTGAACTGGATGAGAAG 0.483 NA 8 65 0 0 0.004482 0 0 OAS1 4938 broad.mit.edu 37 12 113344990 113344990 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:113344990G>C uc001tud.2 + 1 252 c.146G>C c.(145-147)AGC>ACC p.S49T OAS1_uc010syn.1_Missense_Mutation_p.S48T|OAS1_uc010syo.1_Missense_Mutation_p.S48T|OAS1_uc001tub.2_Missense_Mutation_p.S49T|OAS1_uc001tuc.2_Missense_Mutation_p.S49T|OAS1_uc009zwf.2_Missense_Mutation_p.S48T NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 49 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 TTCCGAGGTAGCTCCTACCCT 0.512 NA 5 74 0 0 0.001168 0 0 MED13L 23389 broad.mit.edu 37 12 116410034 116410034 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:116410034A>T uc001tvw.2 - 26 5794 c.5739T>A c.(5737-5739)AGT>AGA p.S1913R NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1913 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CAAGGAGGATACTCCAATCTG 0.418 NA 10 73 0 0 0.008291 0 0 MED13L 23389 broad.mit.edu 37 12 116421096 116421096 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:116421096G>A uc001tvw.2 - 21 4836 c.4781C>T c.(4780-4782)CCT>CTT p.P1594L NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1594 Ser-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GCTAATACCAGGAGCAGAGGC 0.507 NA 5 36 0 0 0.001168 0 0 CIT 11113 broad.mit.edu 37 12 120214178 120214178 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:120214178T>A uc001txi.1 - 15 1924 c.1871A>T c.(1870-1872)TAT>TTT p.Y624F CIT_uc001txh.1_Missense_Mutation_p.Y158F|CIT_uc001txj.1_Missense_Mutation_p.Y624F NM_007174 NP_009105 O14578 CTRO_HUMAN citron 624 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CAGTTTCGCATATTCTCCCAC 0.358 NA 48 199 0 0 0.00361 0 0 LRRC43 254050 broad.mit.edu 37 12 122684775 122684775 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:122684775G>T uc009zxm.2 + 8 1414 c.1389G>T c.(1387-1389)GAG>GAT p.E463D LRRC43_uc001ubw.3_Missense_Mutation_p.E278D|LRRC43_uc009zxn.2_Missense_Mutation_p.E224D NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 463 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CCTGGGCTGAGGTCATCCCCT 0.652 NA 11 57 0.000978159 0.00112448 0.000978 1 0 P2RX2 22953 broad.mit.edu 37 12 133196474 133196474 + Nonsense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:133196474C>A uc001ukj.1 + 4 426 c.426C>A c.(424-426)TGC>TGA p.C142* P2RX2_uc001uki.1_Nonsense_Mutation_p.C142*|P2RX2_uc001ukk.1_Nonsense_Mutation_p.C142*|P2RX2_uc001ukl.1_Nonsense_Mutation_p.C118*|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Nonsense_Mutation_p.C50*|P2RX2_uc009zyt.1_Nonsense_Mutation_p.C142*|P2RX2_uc001uko.1_Nonsense_Mutation_p.C118* NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 142 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) ACGCCGACTGCGTGGCTGGGG 0.697 NA 4 15 0.00909568 0.00994674 0.009096 1 0 TPTE2 93492 broad.mit.edu 37 13 20024286 20024286 + Silent SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:20024286G>C uc001umd.2 - 14 1114 c.903C>G c.(901-903)ACC>ACG p.T301T TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.T190T|TPTE2_uc001ume.2_Silent_p.T224T|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 301 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TTACTTCCTTGGTGAAAACCA 0.333 NA 11 87 0 0 0.001855 0 0 HSPH1 10808 broad.mit.edu 37 13 31711466 31711466 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:31711466C>A uc001utj.2 - 18 2964 c.2566G>T c.(2566-2568)GAC>TAC p.D856Y HSPH1_uc001utk.2_Missense_Mutation_p.D812Y|HSPH1_uc010aaw.2_Missense_Mutation_p.D815Y|HSPH1_uc001utl.2_Missense_Mutation_p.D858Y|HSPH1_uc010tds.1_Missense_Mutation_p.D780Y NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 856 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TAGTCCAAGTCCATATTAACA 0.299 NA 22 128 3.5997e-14 5.73702e-14 0.002299 1 0 ENOX1 55068 broad.mit.edu 37 13 43933986 43933986 + Splice_Site SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:43933986C>G uc001uza.3 - 7 889 c.589_splice c.e7+1 p.G197_splice ENOX1_uc001uzb.3_Splice_Site_p.G197_splice|ENOX1_uc001uzc.3_Splice_Site_p.G197_splice|ENOX1_uc010tfm.1_Splice_Site_p.G10_splice NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) ATGCAAAGTACCAGAAAGGTA 0.358 NA 7 134 0 0 0.001984 0 0 NUDT15 55270 broad.mit.edu 37 13 48619794 48619794 + Splice_Site SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:48619794A>T uc001vbw.1 + 3 536 c.356_splice c.e3-2 p.S119_splice NM_018283 NP_060753 Q9NV35 NUD15_HUMAN nudix-type motif 15 hydrolase activity|metal ion binding 0 all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;4.83e-07) TTTCTTTTCTAGGTTGGGAGT 0.343 NA 4 59 0 0 0.009096 0 0 PCDH8 5100 broad.mit.edu 37 13 53422253 53422253 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:53422253C>G uc001vhi.2 - 1 522 c.319G>C c.(319-321)GAT>CAT p.D107H PCDH8_uc001vhj.2_Missense_Mutation_p.D107H NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 107 Extracellular (Potential).|Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CTGACCACATCGAAGGCCAGC 0.711 GBM(36;25 841 9273 49207) NA 4 36 0 0 0.009096 0 0 LMO7 4008 broad.mit.edu 37 13 76379705 76379705 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:76379705A>T uc001vjv.2 + 6 1066 c.306A>T c.(304-306)AAA>AAT p.K102N LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Intron NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 387 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAGAGGAAAAAGCAAAGACAA 0.428 NA 22 172 0 0 0.010504 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453826 84453826 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:84453826G>A uc001vlk.2 - 1 2703 c.1817C>T c.(1816-1818)TCC>TTC p.S606F NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 606 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTAGGAGTTGGAGTGCGTCCC 0.587 NA 3 12 0 0 0.004672 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368638 86368638 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:86368638G>C uc001vll.1 - 2 2465 c.2006C>G c.(2005-2007)ACT>AGT p.T669S SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 669 Cytoplasmic (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCTTTCAGTAGTGTGATGAGT 0.443 NA 33 191 0 0 0.002836 0 0 UGGT2 55757 broad.mit.edu 37 13 96519616 96519616 + Missense_Mutation SNP T T G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:96519616T>G uc001vmt.2 - 30 3705 c.3535A>C c.(3535-3537)AAA>CAA p.K1179Q NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 1179 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 ATCTTGCTTTTGAAGCTGTTT 0.289 NA 9 147 0 0 0.001368 0 0 SLC15A1 6564 broad.mit.edu 37 13 99356687 99356687 + Silent SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:99356687T>C uc001vno.2 - 17 1349 c.1272A>G c.(1270-1272)ACA>ACG p.T424T NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 424 Extracellular (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TAAATGCATTTGTCTATAGAG 0.423 NA 14 129 0 0 0.00245 0 0 SLC15A1 6564 broad.mit.edu 37 13 99378453 99378453 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:99378453G>T uc001vno.2 - 4 246 c.169C>A c.(169-171)CAT>AAT p.H57N SLC15A1_uc001vnp.1_Missense_Mutation_p.H25N NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 57 Helical; (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ACAAACGTATGGTAGATGGCG 0.498 NA 9 41 0.000274275 0.000324617 0.004482 1 0 GPR183 1880 broad.mit.edu 37 13 99947695 99947696 + Missense_Mutation DNP TT TT GA TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 TT TT - - TT TT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:99947695_99947696TT>GA uc001vog.2 - 2 878_879 c.704_705AA>TC c.(703-705)AAA>ATC p.K235I UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron NM_004951 NP_004942 P32249 GP183_HUMAN EBV-induced G protein-coupled receptor 2 235 Cytoplasmic (Potential). humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 TTACACCAGATTTCTCAGTGAG 0.351 NA 12 124 0 0 0.004672 0 0 NALCN 259232 broad.mit.edu 37 13 101756709 101756709 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:101756709T>A uc001vox.1 - 25 3015 c.2826A>T c.(2824-2826)TTA>TTT p.L942F NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 942 Helical; Name=S2 of repeat III; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GAGTGAAAAATAAGCCATCTG 0.363 NA 9 66 0 0 0.006214 0 0 NALCN 259232 broad.mit.edu 37 13 101756712 101756712 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr13:101756712G>A uc001vox.1 - 25 3012 c.2823C>T c.(2821-2823)GGC>GGT p.G941G NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 941 Helical; Name=S2 of repeat III; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGAAAAATAAGCCATCTGCCA 0.368 NA 8 66 0 0 0.006214 0 0 OR4K5 79317 broad.mit.edu 37 14 20389008 20389008 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:20389008G>T uc010tkw.1 + 1 243 c.243G>T c.(241-243)ATG>ATT p.M81I NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCCCTAAAATGATTGCAGATT 0.438 NA 33 362 2.80507e-11 4.28786e-11 0.002445 1 0 RNASE2 6036 broad.mit.edu 37 14 21424014 21424014 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:21424014A>T uc010aif.2 + 2 153 c.84A>T c.(82-84)AAA>AAT p.K28N RNASE2_uc001vyl.1_Missense_Mutation_p.K28N NM_002934 NP_002925 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, 28 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity ovary(1) 1 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TCCATGTCAAACCTCCACAGT 0.453 NA 5 56 0 0 0.000602 0 0 MYH6 4624 broad.mit.edu 37 14 23876236 23876236 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:23876236C>A uc001wjv.2 - 3 264 c.197G>T c.(196-198)GGG>GTG p.G66V MYH6_uc010akp.1_Missense_Mutation_p.G66V NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 66 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ACTCACCTTCCCATTCTCGGT 0.572 NA 21 447 3.28513e-13 5.16234e-13 0.003954 1 0 MYH7 4625 broad.mit.edu 37 14 23894495 23894495 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:23894495G>T uc001wjx.2 - 21 2525 c.2419C>A c.(2419-2421)CGT>AGT p.R807S NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 807 IQ. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCTCACCTACGTTCCAGCAGC 0.552 NA 11 36 0.00010058 0.000121606 0.001368 1 0 MYH7 4625 broad.mit.edu 37 14 23898510 23898510 + Silent SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:23898510C>G uc001wjx.2 - 13 1291 c.1185G>C c.(1183-1185)CTG>CTC p.L395L NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 395 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCCCCTTGAGCAGGTCGGCTG 0.517 NA 20 71 0 0 0.008871 0 0 AKAP6 9472 broad.mit.edu 37 14 33293463 33293463 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:33293463C>A uc001wrq.2 + 13 6614 c.6444C>A c.(6442-6444)GAC>GAA p.D2148E NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2148 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GCTTAGATGACAAGGAAGATA 0.463 Melanoma(49;821 1200 7288 13647 42351) NA 4 43 0.00909568 0.00994674 0.009096 1 0 PELI2 57161 broad.mit.edu 37 14 56763705 56763705 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:56763705C>T uc001xch.2 + 6 1370 c.1084C>T c.(1084-1086)CCA>TCA p.P362S NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 362 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 CGCAGGACCGCCAACTCATGC 0.557 NA 9 138 0 0 0.006214 0 0 KIAA0586 9786 broad.mit.edu 37 14 58934504 58934504 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:58934504G>A uc001xdv.3 + 15 2351 c.2078G>A c.(2077-2079)AGC>AAC p.S693N KIAA0586_uc010trr.1_Missense_Mutation_p.S810N|KIAA0586_uc001xdt.3_Missense_Mutation_p.S725N|KIAA0586_uc001xdu.3_Missense_Mutation_p.S754N|KIAA0586_uc010trs.1_Missense_Mutation_p.S684N|KIAA0586_uc010trt.1_Missense_Mutation_p.S629N|KIAA0586_uc010tru.1_Missense_Mutation_p.S629N NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 693 ovary(1) 1 GTGATTGTCAGCAAGCCACAC 0.393 NA 32 203 0 0 0.005524 0 0 DAAM1 23002 broad.mit.edu 37 14 59793303 59793303 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:59793303A>T uc001xdz.1 + 11 1375 c.1250A>T c.(1249-1251)GAC>GTC p.D417V DAAM1_uc001xea.1_Missense_Mutation_p.D417V|DAAM1_uc001xeb.1_Missense_Mutation_p.D417V NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 417 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) ATCCAGAATGACAAAGGACAG 0.373 NA 12 110 0 0 0.001855 0 0 HSPA2 3306 broad.mit.edu 37 14 65008300 65008300 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:65008300G>A uc001xhj.2 + 2 809 c.733G>A c.(733-735)GCG>ACG p.A245T HSPA2_uc001xhk.3_Missense_Mutation_p.A245T NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 245 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) GAGCCACCTGGCGGAGGAGTT 0.652 Pancreas(136;1211 1835 24894 31984 38227) NA 4 61 0 0 0.000602 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209068 71209068 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:71209068C>A uc001xmm.2 - 6 1567 c.1567G>T c.(1567-1569)GAT>TAT p.D523Y MAP3K9_uc010ttk.1_Missense_Mutation_p.D260Y|MAP3K9_uc001xmk.2_Missense_Mutation_p.D217Y|MAP3K9_uc001xml.2_Missense_Mutation_p.D523Y NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 523 KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GGCCACTGACCAGAAGGGAGG 0.607 GBM(114;411 1587 13539 28235 50070) NA 8 115 1.12685e-05 1.47015e-05 0.004482 1 0 LTBP2 4053 broad.mit.edu 37 14 74967652 74967652 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:74967652G>T uc001xqa.2 - 36 5788 c.5401C>A c.(5401-5403)CGC>AGC p.R1801S NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1801 EGF-like 20; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CAGTGGCAGCGGTAGGAGCCC 0.567 NA 9 39 7.48243e-07 1.02883e-06 0.006214 1 0 YLPM1 56252 broad.mit.edu 37 14 75264581 75264581 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:75264581G>A uc001xqj.3 + 5 2705 c.2581G>A c.(2581-2583)GGA>AGA p.G861R YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 666 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ACCTCTTTCAGGAAACAAAGA 0.453 NA 8 72 0 0 0.00308 0 0 C14orf145 145508 broad.mit.edu 37 14 81244254 81244254 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:81244254T>A uc001xux.2 - 15 2519 c.2348A>T c.(2347-2349)CAA>CTA p.Q783L C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 783 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) CTTCAAACATTGATATTTTAG 0.303 NA 5 86 0 0 0.000602 0 0 YY1 7528 broad.mit.edu 37 14 100743846 100743846 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:100743846G>T uc001ygy.1 + 5 1634 c.1154G>T c.(1153-1155)TGC>TTC p.C385F uc001ygz.1_5'Flank NM_003403 NP_003394 P25490 TYY1_HUMAN YY1 transcription factor 385 C2H2-type 4.|Involved in masking transactivation domain. Zinc 4. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding 0 Melanoma(154;0.152) CCCTATGTGTGCCCCTTCGAT 0.463 NA 7 68 2.7689e-08 3.98295e-08 0.001984 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102496195 102496195 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:102496195G>T uc001yks.2 + 50 9846 c.9682G>T c.(9682-9684)GAG>TAG p.E3228* NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3228 Potential.|Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 AAAGAGCCAAGAGCTGGAGGT 0.463 NA 12 80 0.00136819 0.00156008 0.001368 1 0 TDRD9 122402 broad.mit.edu 37 14 104462107 104462107 + Silent SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:104462107T>A uc001yom.3 + 12 1371 c.1341T>A c.(1339-1341)ATT>ATA p.I447I TDRD9_uc001yon.3_Silent_p.I185I NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 447 Helicase C-terminal. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) CCACCAATATTGCAGAGAGTT 0.353 NA 5 27 0 0 0.001168 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411915 105411915 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr14:105411915C>A uc010axc.1 - 7 9993 c.9873G>T c.(9871-9873)GAG>GAT p.E3291D AHNAK2_uc001ypx.2_Missense_Mutation_p.E3191D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3291 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACAGGTCCCCCTCCAGCCGTG 0.612 NA 8 208 3.09899e-07 4.31397e-07 0.004482 1 0 GABRG3 2567 broad.mit.edu 37 15 27725868 27725868 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:27725868G>T uc001zbg.1 + 6 813 c.647G>T c.(646-648)TGG>TTG p.W216L GABRG3_uc001zbf.2_Missense_Mutation_p.W216L NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 216 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CAGAAATCATGGCGGCTTTAT 0.418 NSCLC(114;800 1656 7410 37729 45293) NA 3 22 0.00909568 0.00994674 0.009096 1 0 RYR3 6263 broad.mit.edu 37 15 33895447 33895447 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:33895447G>T uc001zhi.2 + 18 2116 c.2046G>T c.(2044-2046)GTG>GTT p.V682V RYR3_uc010bar.2_Silent_p.V682V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 682 Cytoplasmic (By similarity).|B30.2/SPRY 1. 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) ATCTGCGGGTGGGCTGGGCCT 0.577 NA 16 181 5.01169e-05 6.20654e-05 0.00499 1 0 RYR3 6263 broad.mit.edu 37 15 33962753 33962753 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:33962753C>T uc001zhi.2 + 38 5926 c.5856C>T c.(5854-5856)TGC>TGT p.C1952C RYR3_uc010bar.2_Silent_p.C1952C NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1952 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) AGGAGAGATGCCCCAGTAAGT 0.438 NA 11 57 0 0 0.008291 0 0 UBR1 197131 broad.mit.edu 37 15 43281045 43281045 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:43281045G>A uc001zqq.2 - 35 4035 c.3969C>T c.(3967-3969)AGC>AGT p.S1323S NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1323 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AAGCGCAGGTGCTCCAGGTCA 0.403 NA 6 163 0 0 0.001168 0 0 SLC28A2 9153 broad.mit.edu 37 15 45564558 45564558 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:45564558G>C uc001zva.2 + 16 1779 c.1714G>C c.(1714-1716)GCC>CCC p.A572P NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 572 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CTTCACAGGGGCCTGTGTATC 0.478 NSCLC(92;493 1501 26361 28917 47116) NA 10 57 0 0 0.000978 0 0 HSP90AB4P 664618 broad.mit.edu 37 15 58985220 58985220 + Silent SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:58985220C>G uc002afh.1 - 1 105 c.105G>C c.(103-105)CTG>CTC p.L35L ADAM10_uc002afd.1_Intron|ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Intron NR_002927 RecName: Full=Putative heat shock protein HSP 90-beta 4; 0 AAGGGTCTGTCAGGCTCTCAT 0.448 NA 8 28 0 0 0.004482 0 0 DIS3L 115752 broad.mit.edu 37 15 66610849 66610849 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:66610849G>C uc010ujm.1 + 8 1072 c.1057G>C c.(1057-1059)GAA>CAA p.E353Q DIS3L_uc010ujl.1_Intron|DIS3L_uc002app.2_Missense_Mutation_p.E270Q|DIS3L_uc002apq.2_Missense_Mutation_p.E353Q|DIS3L_uc010bho.2_Missense_Mutation_p.E219Q NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 353 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 TCCGTCCAAAGAAGAGGTCCA 0.433 NA 10 87 0 0 0.008291 0 0 LRRC49 54839 broad.mit.edu 37 15 71329524 71329524 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:71329524G>T uc002asw.2 + 15 1957 c.1710G>T c.(1708-1710)AAG>AAT p.K570N LRRC49_uc002asu.2_Missense_Mutation_p.K560N|LRRC49_uc002asx.2_Missense_Mutation_p.K526N|LRRC49_uc010ukf.1_Missense_Mutation_p.K575N|LRRC49_uc002asy.2_Missense_Mutation_p.K276N|LRRC49_uc002asz.2_Missense_Mutation_p.K542N NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 570 cytoplasm|microtubule ovary(1) 1 ACAGGAAAAAGCAATTTCGGT 0.318 NA 7 114 0.000157383 0.000188658 0.00308 1 0 ACAN 176 broad.mit.edu 37 15 89382144 89382144 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:89382144C>T uc010upo.1 + 3 695 c.321C>T c.(319-321)CCC>CCT p.P107P ACAN_uc002bmx.2_Silent_p.P107P|ACAN_uc010upp.1_Silent_p.P107P|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 107 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCTCACTGCCCAACTACCCGG 0.617 NA 7 94 0 0 0.00308 0 0 TTC23 64927 broad.mit.edu 37 15 99678233 99678233 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr15:99678233G>A uc002bur.2 - 13 1857 c.1326C>T c.(1324-1326)CCC>CCT p.P442P TTC23_uc002bus.2_Silent_p.P442P|TTC23_uc002but.2_Silent_p.P442P|TTC23_uc002buu.2_Silent_p.P442P|TTC23_uc002buv.2_Silent_p.P442P|TTC23_uc002bux.2_Silent_p.P442P|TTC23_uc002buw.2_Silent_p.P442P|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.P442P|TTC23_uc010bor.2_Silent_p.P442P NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 442 binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) CTGTTGTGCCGGGCCGGGCCT 0.587 NA 3 41 0 0 0.000602 0 0 BAIAP3 8938 broad.mit.edu 37 16 1391159 1391159 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:1391159C>T uc002clk.1 + 7 603 c.603C>T c.(601-603)GTC>GTT p.V201V BAIAP3_uc002clj.2_Silent_p.V183V|BAIAP3_uc010uuz.1_Silent_p.V166V|BAIAP3_uc010uva.1_Silent_p.V138V|BAIAP3_uc010uvb.1_Silent_p.V218V|BAIAP3_uc010uvc.1_Silent_p.V166V NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 201 C2 1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) AAGTCTCTGTCATGCGTGCCA 0.672 NA 3 46 0 0 0.004672 0 0 A2BP1 54715 broad.mit.edu 37 16 7726787 7726787 + Silent SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:7726787T>C uc002cys.2 + 14 1930 c.942T>C c.(940-942)GCT>GCC p.A314A A2BP1_uc002cyt.2_Silent_p.A287A|A2BP1_uc010uxz.1_Silent_p.A357A|A2BP1_uc010uya.1_Silent_p.A271A|A2BP1_uc010uyb.1_Silent_p.A314A|A2BP1_uc002cyw.2_Silent_p.A335A|A2BP1_uc002cyy.2_Silent_p.A335A|A2BP1_uc002cyx.2_Silent_p.A335A|A2BP1_uc010uyc.1_Silent_p.A308A NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 314 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) GTGGTTATGCTGCATACCGCT 0.517 NA 4 75 0 0 0.000602 0 0 C16orf62 57020 broad.mit.edu 37 16 19656206 19656206 + Splice_Site SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:19656206A>T uc002dgn.1 + 23 1878 c.1866_splice c.e23-2 p.N622_splice C16orf62_uc002dgo.1_Splice_Site_p.N555_splice|C16orf62_uc002dgp.1_Splice_Site_p.N371_splice NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 integral to membrane ovary(1) 1 TATTGATTTTAGTGCACTCAC 0.303 NA 5 86 0 0 0.001168 0 0 RBBP6 5930 broad.mit.edu 37 16 24580932 24580932 + Nonsense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:24580932T>A uc002dmh.2 + 17 3961 c.2921T>A c.(2920-2922)TTG>TAG p.L974* RBBP6_uc010vcb.1_Nonsense_Mutation_p.L841*|RBBP6_uc002dmi.2_Nonsense_Mutation_p.L940*|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Nonsense_Mutation_p.L807* NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 974 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) ACAGACTCATTGTTTGTTCTC 0.388 NA 16 81 0 0 0.004007 0 0 FAM57B 83723 broad.mit.edu 37 16 30038006 30038006 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:30038006C>T uc002dvt.2 - 3 706 c.368G>A c.(367-369)CGT>CAT p.R123H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|FAM57B_uc002dvu.2_Missense_Mutation_p.R73H NM_031478 NP_113666 Q71RH2 FA57B_HUMAN hypothetical protein LOC83723 123 TLC. endoplasmic reticulum|integral to membrane 0 CAGGTAGCCACGCGCTATGGC 0.652 NA 5 26 0 0 0.001168 0 0 ZNF768 79724 broad.mit.edu 37 16 30536017 30536017 + Nonsense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:30536017C>A uc002dyk.3 - 2 1620 c.1444G>T c.(1444-1446)GAG>TAG p.E482* ZNF768_uc010vex.1_Nonsense_Mutation_p.E451*|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Nonsense_Mutation_p.E451* NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 482 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 TAGGGCCGCTCGCCCGTGTGG 0.677 NA 5 26 0.000602214 0.000699466 0.000602 1 0 HSD3B7 80270 broad.mit.edu 37 16 30998216 30998216 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:30998216G>T uc002eaf.2 + 6 693 c.587G>T c.(586-588)GGT>GTT p.G196V HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.G196V NM_025193 NP_079469 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- 196 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity 0 GGCATCTACGGTGAAGGCCAC 0.672 NA 16 70 1.67942e-08 2.4345e-08 0.006122 1 0 NLRC5 84166 broad.mit.edu 37 16 57054740 57054740 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:57054740C>T uc002ekk.1 + 3 341 c.116C>T c.(115-117)ACG>ATG p.T39M NLRC5_uc010ccq.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 39 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CTCCCCAACACGGACCTGGAT 0.547 NA 4 57 0 0 0.009096 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064459 78064459 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:78064459C>A uc002ffh.3 + 3 396 c.315C>A c.(313-315)CCC>CCA p.P105P NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 105 C-type lectin. skeletal system development extracellular region sugar binding 0 TGGTTATCCCCAGGAACTCCG 0.473 NA 6 63 2.7689e-08 3.98295e-08 0.001984 1 0 CDH13 1012 broad.mit.edu 37 16 83378559 83378559 + Silent SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:83378559G>C uc002fgx.2 + 6 849 c.729G>C c.(727-729)CCG>CCC p.P243P CDH13_uc010vns.1_Silent_p.P290P|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Silent_p.P204P NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 243 Cadherin 1. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ACAACCGACCGATCTTTCGGG 0.507 NA 13 67 0 0 0.001855 0 0 TAF1C 9013 broad.mit.edu 37 16 84212613 84212613 + Silent SNP G G T rs138100695 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:84212613G>T uc002fhn.2 - 14 2772 c.2544C>A c.(2542-2544)TCC>TCA p.S848S TAF1C_uc002fhm.2_Silent_p.S754S|TAF1C_uc010vnx.1_Silent_p.S822S|TAF1C_uc010vny.1_Silent_p.S439S|TAF1C_uc010vnz.1_Silent_p.S516S|TAF1C_uc002fho.2_Silent_p.S371S|TAF1C_uc010voa.1_Silent_p.S516S|TAF1C_uc002fhp.1_RNA NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 848 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 TGTGCTGCTGGGAGCGAGTGG 0.652 NA 11 71 1.49906e-05 1.92884e-05 0.00245 1 0 USP10 9100 broad.mit.edu 37 16 84779061 84779061 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr16:84779061A>G uc002fii.2 + 4 1116 c.974A>G c.(973-975)GAC>GGC p.D325G USP10_uc010voe.1_Missense_Mutation_p.D329G|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR NM_005153 NP_005144 Q14694 UBP10_HUMAN ubiquitin specific protease 10 325 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 CCTCCTGCTGACGGCACGGGC 0.612 NA 3 19 0 0 0.004672 0 0 WSCD1 23302 broad.mit.edu 37 17 6021461 6021461 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:6021461G>C uc010cli.2 + 8 1707 c.1328G>C c.(1327-1329)TGT>TCT p.C443S WSCD1_uc002gcn.2_Missense_Mutation_p.C443S|WSCD1_uc002gco.2_Missense_Mutation_p.C443S|WSCD1_uc010clj.2_Missense_Mutation_p.C134S NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 443 integral to membrane sulfotransferase activity 0 AACAGAAAATGTGCCGGGCAC 0.542 NA 13 24 0 0 0.004007 0 0 MYH8 4626 broad.mit.edu 37 17 10323440 10323440 + Missense_Mutation SNP A A C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:10323440A>C uc002gmm.2 - 3 200 c.105T>G c.(103-105)GAT>GAG p.D35E uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 35 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ATGTTTTAGCATCAAACGGCT 0.483 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 61 200 0 0 0.00361 0 0 RICH2 9912 broad.mit.edu 37 17 12883520 12883520 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:12883520G>T uc002gnr.3 + 19 2236 c.1909G>T c.(1909-1911)GCA>TCA p.A637S RICH2_uc010vvk.1_Missense_Mutation_p.A637S|RICH2_uc010vvl.1_Missense_Mutation_p.A631S|RICH2_uc002gns.3_Missense_Mutation_p.A431S|RICH2_uc010vvm.1_Missense_Mutation_p.A631S|RICH2_uc010vvn.1_Intron NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 637 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 CCAGCCGCCTGCAGACCAGAG 0.652 NA 5 25 8.12818e-05 9.89135e-05 0.001984 1 0 NOS2 4843 broad.mit.edu 37 17 26110042 26110042 + Silent SNP G G A rs139747007 byFrequency TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:26110042G>A uc002gzu.2 - 6 822 c.558C>T c.(556-558)CTC>CTT p.L186L NOS2_uc010crh.1_Silent_p.L186L|NOS2_uc010wab.1_Silent_p.L186L NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 186 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TGGCGAAGATGAGCTCATCTC 0.552 NA 8 61 0 0 0.00308 0 0 TMEM132E 124842 broad.mit.edu 37 17 32961968 32961968 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:32961968C>T uc002hif.2 + 8 1897 c.1569C>T c.(1567-1569)GTC>GTT p.V523V NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 523 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) ACCAGGTGGTCACCATGTTAG 0.617 NA 3 51 0 0 0.009096 0 0 TMEM132E 124842 broad.mit.edu 37 17 32961989 32961989 + Nonsense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:32961989G>A uc002hif.2 + 8 1918 c.1590G>A c.(1588-1590)TGG>TGA p.W530* NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 530 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GCCCGGACTGGCTGGTGGAGG 0.627 NA 4 40 0 0 0.009096 0 0 AP2B1 163 broad.mit.edu 37 17 33935316 33935316 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:33935316G>T uc002hjr.2 + 5 624 c.435G>T c.(433-435)GTG>GTT p.V145V AP2B1_uc002hjq.2_Silent_p.V145V|AP2B1_uc010wci.1_Silent_p.V107V|AP2B1_uc002hjs.2_Silent_p.V88V|AP2B1_uc002hjt.2_Silent_p.V145V|AP2B1_uc010ctv.2_Silent_p.V145V NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 145 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CAGTCTGCGTGGCAAAACTCC 0.458 NA 31 103 1.30988e-24 2.28212e-24 0.002096 1 0 ADAM11 4185 broad.mit.edu 37 17 42853507 42853507 + Missense_Mutation SNP G G T rs138490145 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:42853507G>T uc002ihh.2 + 18 1498 c.1498G>T c.(1498-1500)GGT>TGT p.G500C ADAM11_uc010wjd.1_Missense_Mutation_p.G300C|ADAM11_uc002ihi.2_5'Flank NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 500 Extracellular (Potential).|Disintegrin. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) CGAACCACGGGGTGTGTCCTG 0.687 NA 8 103 2.52707e-12 3.91626e-12 0.006214 1 0 SPAG9 9043 broad.mit.edu 37 17 49156969 49156969 + Nonsense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:49156969T>A uc002itc.2 - 2 609 c.400A>T c.(400-402)AAA>TAA p.K134* SPAG9_uc002itb.2_Nonsense_Mutation_p.K134*|SPAG9_uc002itd.2_Nonsense_Mutation_p.K134*|SPAG9_uc002itf.2_5'UTR NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 134 Potential. positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TTTTTCGCTTTCAGCTCAAGT 0.299 NA 31 144 0 0 0.002445 0 0 ANKFN1 162282 broad.mit.edu 37 17 54431318 54431318 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:54431318G>T uc002iun.1 + 5 556 c.521G>T c.(520-522)GGC>GTC p.G174V NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 174 ANK 2. large_intestine(1)|ovary(1) 2 AACAGCGAGGGCTTGACACCC 0.502 NA 13 48 7.05477e-17 1.15723e-16 0.00499 1 0 COIL 8161 broad.mit.edu 37 17 55038196 55038196 + Missense_Mutation SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:55038196T>C uc002iuu.2 - 1 216 c.185A>G c.(184-186)GAG>GGG p.E62G NM_004645 NP_004636 P38432 COIL_HUMAN coilin 62 Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) GAGCCCCCCCTCCAGGTAGAG 0.672 NA 4 8 0 0 0.009096 0 0 GH1 2688 broad.mit.edu 37 17 61994708 61994708 + Missense_Mutation SNP G G C rs148474991 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:61994708G>C uc002jdj.2 - 5 677 c.615C>G c.(613-615)ATC>ATG p.I205M GH1_uc002jdi.2_Missense_Mutation_p.I190M|GH1_uc002jdk.2_Missense_Mutation_p.I165M|GH1_uc002jdl.2_Missense_Mutation_p.I110M|GH1_uc002jdm.2_3'UTR|GH1_uc002jdn.2_Missense_Mutation_p.S159W NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 205 I -> M (in short stature; idiopathic autosomal). glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 GGCACTGCACGATGCGCAGGA 0.592 NA 19 49 0 0 0.008871 0 0 SDK2 54549 broad.mit.edu 37 17 71346482 71346482 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:71346482T>A uc010dfm.2 - 43 5932 c.5932A>T c.(5932-5934)AGC>TGC p.S1978C SDK2_uc002jjt.3_Missense_Mutation_p.S1118C NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1978 Cytoplasmic (Potential). cell adhesion integral to membrane ovary(2) 2 ATCATCTCGCTGTGGCCTAGG 0.567 NA 13 18 0 0 0.00245 0 0 DNAI2 64446 broad.mit.edu 37 17 72301559 72301559 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:72301559G>T uc002jkf.2 + 9 1288 c.1189G>T c.(1189-1191)GAA>TAA p.E397* DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 397 WD 4. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 AGACAGCCGGGAATCGTCCAT 0.612 NA Kartagener_syndrome 4 28 0.000602214 0.000699466 0.000602 1 0 TBC1D16 125058 broad.mit.edu 37 17 77926534 77926534 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:77926534C>A uc002jxj.2 - 4 979 c.863G>T c.(862-864)CGG>CTG p.R288L TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 288 intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GGCGCACACCCGCTGCGGCTC 0.682 Ovarian(14;397 562 4850 31922 49378) NA 6 37 8.12818e-05 9.89135e-05 0.001984 1 0 FASN 2194 broad.mit.edu 37 17 80045689 80045689 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:80045689G>A uc002kdu.2 - 19 3032 c.2915C>T c.(2914-2916)CCG>CTG p.P972L FASN_uc002kdw.1_Missense_Mutation_p.P188L NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 972 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GGGGCTTTCCGGGTGGTCGAA 0.652 Colon(59;314 1043 11189 28578 32273) NA 9 31 0 0 0.008291 0 0 EPB41L3 23136 broad.mit.edu 37 18 5415909 5415909 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr18:5415909G>A uc002kmt.1 - 13 2061 c.1975C>T c.(1975-1977)CCT>TCT p.P659S EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 659 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AGAGCCAGAGGGAAGGAGAGA 0.572 NA 19 51 0 0 0.006122 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14851954 14851954 + Missense_Mutation SNP T T G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr18:14851954T>G uc010dlo.2 + 36 3834 c.3654T>G c.(3652-3654)GAT>GAG p.D1218E ANKRD30B_uc010xal.1_Missense_Mutation_p.D360E NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1303 ovary(1)|skin(1) 2 TGAATGTTGATGTGAGTAATA 0.368 NA 5 18 0 0 0.001984 0 0 ZNF521 25925 broad.mit.edu 37 18 22805060 22805060 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr18:22805060G>T uc002kvk.2 - 4 3069 c.2822C>A c.(2821-2823)TCC>TAC p.S941Y ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S941Y|ZNF521_uc002kvl.2_Missense_Mutation_p.S721Y NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 941 C2H2-type 22. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCCATTTTCGGAGAAGAAGGT 0.488 NA T PAX5 ALL 23 67 2.41591e-17 3.97456e-17 0.004656 1 0 CDH2 1000 broad.mit.edu 37 18 25565006 25565006 + Missense_Mutation SNP C C A rs151110746 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr18:25565006C>A uc002kwg.2 - 13 2626 c.2167G>T c.(2167-2169)GGT>TGT p.G723C CDH2_uc010xbn.1_Missense_Mutation_p.G692C NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 723 Extracellular (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 ATGATGGCACCGGTGCCAAGC 0.483 NA 10 28 0.00621372 0.006862 0.006214 1 0 KIAA1012 22878 broad.mit.edu 37 18 29437775 29437775 + Silent SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr18:29437775G>C uc002kxc.3 - 20 3280 c.2916C>G c.(2914-2916)CCC>CCG p.P972P KIAA1012_uc002kxb.3_Silent_p.P918P|KIAA1012_uc002kxd.3_Intron NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 972 ER to Golgi vesicle-mediated transport cis-Golgi network 0 CAGAAGCTGAGGGACTTAGTG 0.423 NA 58 171 0 0 0.00361 0 0 ZNF532 55205 broad.mit.edu 37 18 56620993 56620993 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr18:56620993G>C uc002lho.2 + 8 3659 c.3112G>C c.(3112-3114)GAT>CAT p.D1038H ZNF532_uc002lhp.2_Missense_Mutation_p.D1036H|ZNF532_uc010xeg.1_Missense_Mutation_p.D1036H|ZNF532_uc002lhr.2_Missense_Mutation_p.D1036H|ZNF532_uc002lhs.2_Missense_Mutation_p.D1036H|ZNF532_uc010xeh.1_Missense_Mutation_p.D130H NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1038 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 CATGCAGAGAGATGTGTACAT 0.408 NA 7 128 0 0 0.00308 0 0 ZNF560 147741 broad.mit.edu 37 19 9577253 9577253 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:9577253G>T uc002mlp.1 - 10 2580 c.2370C>A c.(2368-2370)CAC>CAA p.H790Q ZNF560_uc010dwr.1_Missense_Mutation_p.H684Q NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 790 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CTTCTCTCTAGTGTGTTTTCA 0.398 NA 16 60 1.33834e-09 1.99683e-09 0.007413 1 0 CC2D1A 54862 broad.mit.edu 37 19 14040397 14040397 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:14040397G>C uc002mxo.2 + 26 2933 c.2634G>C c.(2632-2634)CAG>CAC p.Q878H CC2D1A_uc002mxp.2_Missense_Mutation_p.Q877H|CC2D1A_uc010dzh.2_Missense_Mutation_p.Q447H NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 878 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AAGTGGCCCAGCAGTACCAGG 0.657 NA 4 11 0 0 0.000602 0 0 OR7C2 26658 broad.mit.edu 37 19 15052637 15052637 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:15052637T>A uc010xoc.1 + 1 337 c.337T>A c.(337-339)TTG>ATG p.L113M NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) CCTGGACAATTTGCTCCTGAC 0.483 NA 13 47 0 0 0.001855 0 0 OR10H2 26538 broad.mit.edu 37 19 15838973 15838973 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:15838973G>T uc002nbm.2 + 1 140 c.120G>T c.(118-120)CTG>CTT p.L40L NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TCACGCTGCTGGGCAACCTGC 0.582 NA 6 120 0.00198382 0.00223928 0.001984 1 0 OR10H2 26538 broad.mit.edu 37 19 15839525 15839525 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:15839525C>T uc002nbm.2 + 1 692 c.672C>T c.(670-672)GCC>GCT p.A224A NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TCATCGTGGCCGACATCTTGA 0.532 NA 5 90 0 0 0.000602 0 0 ZNF208 7757 broad.mit.edu 37 19 22155045 22155045 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:22155045C>G uc002nqp.2 - 5 2640 c.2491G>C c.(2491-2493)GTC>CTC p.V831L 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) TTACTAAAGACTGACAACCAG 0.373 NA 4 30 0 0 0.009096 0 0 ZNF257 113835 broad.mit.edu 37 19 22271585 22271585 + Nonsense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:22271585C>T uc010ecx.2 + 4 1202 c.1033C>T c.(1033-1035)CAA>TAA p.Q345* ZNF257_uc010ecy.2_Nonsense_Mutation_p.Q313* NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 345 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAACCCTTCCAATGTGAAGA 0.418 NA 8 32 0 0 0.004482 0 0 UQCRFS1 7386 broad.mit.edu 37 19 29698810 29698810 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:29698810G>C uc002nsd.2 - 2 581 c.470C>G c.(469-471)TCC>TGC p.S157C NM_006003 NP_005994 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske 157 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity 0 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) TGGAATATCGGATAACTTGAT 0.488 NA 5 92 0 0 0.001168 0 0 ZNF536 9745 broad.mit.edu 37 19 30935025 30935025 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:30935025G>T uc002nsu.1 + 2 694 c.556G>T c.(556-558)GGC>TGC p.G186C ZNF536_uc010edd.1_Missense_Mutation_p.G186C NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGGCAACCTGGGCAAGGGGCG 0.667 NA 4 21 0.00024832 0.000296399 0.009096 1 0 TSHZ3 57616 broad.mit.edu 37 19 31769436 31769436 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:31769436C>G uc002nsy.3 - 2 1328 c.1263G>C c.(1261-1263)AAG>AAC p.K421N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 421 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TGGGCTTCCCCTTTTTCATAG 0.582 NA 13 101 0 0 0.001368 0 0 ZNF585B 92285 broad.mit.edu 37 19 37678134 37678135 + Missense_Mutation DNP CA CA GT TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:37678134_37678135CA>GT uc002ofq.2 - 5 558_559 c.304_305TG>AC c.(304-306)TGG>ACG p.W102T ZNF585B_uc002ofr.1_5'UTR NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTATGGTCCCATAATTTCTCT 0.332 Melanoma(93;882 1454 18863 28917 48427) NA 13 72 0 0 0.004672 0 0 HKR1 284459 broad.mit.edu 37 19 37854259 37854259 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:37854259G>T uc002ogb.2 + 6 1831 c.1562G>T c.(1561-1563)GGG>GTG p.G521V HKR1_uc002ofx.2_Missense_Mutation_p.G237V|HKR1_uc002ofy.2_Missense_Mutation_p.G237V|HKR1_uc002oga.2_Missense_Mutation_p.G503V|HKR1_uc010xto.1_Missense_Mutation_p.G503V|HKR1_uc002ogc.2_Missense_Mutation_p.G502V|HKR1_uc010xtp.1_Missense_Mutation_p.G460V|HKR1_uc002ogd.2_Missense_Mutation_p.G460V NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 521 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACACACTCAGGGGAGAAGCCA 0.517 NA 3 35 0.004672 0.00517983 0.004672 1 0 RYR1 6261 broad.mit.edu 37 19 39008033 39008033 + Silent SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:39008033T>C uc002oit.2 + 66 9850 c.9720T>C c.(9718-9720)TGT>TGC p.C3240C RYR1_uc002oiu.2_Silent_p.C3240C|RYR1_uc002oiv.1_Silent_p.C160C|RYR1_uc010xuf.1_Silent_p.C160C NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3240 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGAGATGTGTCCCGACATCC 0.647 NA 3 40 0 0 0.009096 0 0 PSG8 440533 broad.mit.edu 37 19 43268239 43268239 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:43268239G>T uc002ouo.2 - 2 357 c.259C>A c.(259-261)CAA>AAA p.Q87K PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.Q87K|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.Q87K|PSG8_uc002oum.3_Missense_Mutation_p.Q87K|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.Q87K NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 87 Ig-like V-type. extracellular region 0 Prostate(69;0.00899) ATAATTATTTGACCGTCTACT 0.433 NA 70 282 2.60599e-31 4.59736e-31 0.00361 1 0 GPR4 2828 broad.mit.edu 37 19 46094546 46094546 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:46094546C>A uc002pcm.2 - 2 1524 c.579G>T c.(577-579)CCG>CCT p.P193P OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 193 Helical; Name=5; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) TGAGCGCCCACGGGAAGAGGA 0.642 Esophageal Squamous(117;181 1612 1673 14956 42937) NA 3 43 0.004672 0.00517983 0.004672 1 0 SPACA4 171169 broad.mit.edu 37 19 49110448 49110448 + Nonsense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:49110448C>A uc002pjo.2 + 1 449 c.213C>A c.(211-213)TGC>TGA p.C71* FAM83E_uc002pjn.2_Intron NM_133498 NP_598005 Q8TDM5 SACA4_HUMAN sperm acrosomal membrane protein 14 precursor 71 UPAR/Ly6 1. cell adhesion acrosomal vesicle|anchored to membrane|plasma membrane central_nervous_system(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) CCACCAGCTGCGGCCTTGAGG 0.652 NA 3 28 6.4e-05 7.85819e-05 0.004672 1 0 RASIP1 54922 broad.mit.edu 37 19 49225186 49225186 + Missense_Mutation SNP A A C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:49225186A>C uc002pki.2 - 11 2814 c.2617T>G c.(2617-2619)TAT>GAT p.Y873D MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.Y134D NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 873 Dilute. signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CCCAGCTGATAGTGGCTGAGC 0.652 NA 8 45 0 0 0.004482 0 0 KLK8 11202 broad.mit.edu 37 19 51499377 51499377 + Missense_Mutation SNP C C T rs56296296 byFrequency TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:51499377C>T uc002pur.1 - 6 900 c.721G>A c.(721-723)GTC>ATC p.V241I KLK8_uc002puq.1_Missense_Mutation_p.V286I|KLK8_uc002pus.1_Missense_Mutation_p.V100I|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.V241I|KLK9_uc002puv.1_RNA NM_007196 NP_009127 O60259 KLK8_HUMAN kallikrein 8 isoform 1 preproprotein 241 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TTGGTATAGACGCCAGGTTTG 0.542 NA 15 178 0 0 0.00499 0 0 ZNF665 79788 broad.mit.edu 37 19 53667774 53667774 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr19:53667774T>A uc010eqm.1 - 4 2069 c.1969A>T c.(1969-1971)AAC>TAC p.N657Y NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 592 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) CCACATTGGTTACATTTGTAA 0.363 NA 12 42 0 0 0.000978 0 0 TPO 7173 broad.mit.edu 37 2 1520666 1520666 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:1520666C>A uc002qww.2 + 15 2621 c.2530C>A c.(2530-2532)CTC>ATC p.L844I TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.L787I|TPO_uc002qwr.2_Missense_Mutation_p.L844I|TPO_uc002qwx.2_Missense_Mutation_p.L787I|TPO_uc010yio.1_Missense_Mutation_p.L671I|TPO_uc010yip.1_Missense_Mutation_p.L800I|TPO_uc002qwy.1_Missense_Mutation_p.L140I|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 844 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTCCGGGAGGCTCCCTCGGGT 0.602 NA 11 52 3.86212e-05 4.79347e-05 0.008291 1 0 GEN1 348654 broad.mit.edu 37 2 17953925 17953925 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:17953925A>G uc002rct.2 + 8 900 c.827A>G c.(826-828)AAT>AGT p.N276S SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.N276S|GEN1_uc002rcu.2_Missense_Mutation_p.N276S NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 276 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding p.R275fs*37(2) breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CATGAACGTAATGGATGCAGA 0.353 NA Homologous_recombination 5 81 0 0 0.000602 0 0 APOB 338 broad.mit.edu 37 2 21233331 21233331 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:21233331G>C uc002red.2 - 26 6537 c.6409C>G c.(6409-6411)CAT>GAT p.H2137D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2137 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCTTGGCATGTGAAACTTGT 0.338 NA 5 38 0 0 0.000602 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121559 27121559 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:27121559C>G uc002rhu.3 + 2 350 c.192C>G c.(190-192)GAC>GAG p.D64E DPYSL5_uc002rhv.3_Missense_Mutation_p.D64E NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 64 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGCATCGACACCAGCACCC 0.572 NA 9 41 0 0 0.004482 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342547 40342547 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:40342547C>A uc002rrx.2 - 10 2792 c.2768G>T c.(2767-2769)GGG>GTG p.G923V uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.G918V|SLC8A1_uc002rrz.2_Missense_Mutation_p.G910V|SLC8A1_uc002rsa.2_Missense_Mutation_p.G887V|SLC8A1_uc002rsd.3_Missense_Mutation_p.G887V NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 923 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAGCAGCACCCCCACATTGAT 0.562 NA 12 51 9.31168e-06 1.22626e-05 0.001855 1 0 ABCG8 64241 broad.mit.edu 37 2 44079912 44079912 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:44079912C>A uc002rtq.2 + 6 959 c.869C>A c.(868-870)ACC>AAC p.T290N ABCG8_uc010yoa.1_Missense_Mutation_p.T290N NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 290 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACGTCTGGCACCCCCATCTAC 0.582 NA 7 57 2.0095e-06 2.70342e-06 0.001984 1 0 PREPL 9581 broad.mit.edu 37 2 44566424 44566424 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:44566424C>A uc002ruf.2 - 6 866 c.831G>T c.(829-831)GTG>GTT p.V277V PREPL_uc002rug.2_Silent_p.V277V|PREPL_uc002ruh.2_Silent_p.V277V|PREPL_uc010fax.2_Silent_p.V277V|PREPL_uc002rui.3_Silent_p.V188V|PREPL_uc002ruj.1_Silent_p.V188V|PREPL_uc002ruk.1_Silent_p.V277V NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 277 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTATCAACCACACTTCAGAAG 0.403 NA 8 72 0.000157383 0.000188658 0.00308 1 0 FSHR 2492 broad.mit.edu 37 2 49195971 49195971 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:49195971A>G uc002rww.2 - 9 794 c.720T>C c.(718-720)AAT>AAC p.N240N FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Silent_p.N214N NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 240 Extracellular (Potential).|LRR 8. 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) GCTTCTTAAGATTTTCTAAGC 0.428 NA Gonadal_Dysgenesis_46_XX 3 52 0 0 0.009096 0 0 PAPOLG 64895 broad.mit.edu 37 2 60998766 60998766 + Splice_Site SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:60998766G>T uc002sai.2 + 7 835 c.604_splice c.e7+1 p.G202_splice PAPOLG_uc002saj.2_Splice_Site|PAPOLG_uc002sak.2_Intron NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1)|central_nervous_system(1) 2 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AGCTTAAATGGTAAGCTTCTA 0.353 GBM(183;1497 2932 21839 46797) NA 19 70 6.33239e-15 1.01499e-14 0.010504 1 0 REL 5966 broad.mit.edu 37 2 61149634 61149634 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:61149634G>C uc002sam.1 + 11 2048 c.1824G>C c.(1822-1824)TTG>TTC p.L608F REL_uc002san.1_Missense_Mutation_p.L576F NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 608 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) ATGAGCAATTGAGTGACTCCT 0.333 NA A Hodgkin Lymphoma 10 65 0 0 0.008291 0 0 ALMS1 7840 broad.mit.edu 37 2 73717864 73717864 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:73717864A>T uc002sje.1 + 12 8892 c.8781A>T c.(8779-8781)CAA>CAT p.Q2927H ALMS1_uc002sjf.1_Missense_Mutation_p.Q2883H|ALMS1_uc002sjg.2_Missense_Mutation_p.Q2313H|ALMS1_uc002sjh.1_Missense_Mutation_p.Q2313H NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2925 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTCTTGAACAACGAGAACTCT 0.453 NA 23 251 0 0 0.002299 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148979 103148979 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:103148979G>T uc002tbz.3 + 12 2686 c.2229G>T c.(2227-2229)GTG>GTT p.V743V NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 743 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 TAAGGAGGGTGGCCTTAAGAC 0.502 NA 11 27 3.86212e-05 4.79347e-05 0.008291 1 0 RANBP2 5903 broad.mit.edu 37 2 109380702 109380702 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:109380702G>T uc002tem.3 + 20 3833 c.3707G>T c.(3706-3708)CGA>CTA p.R1236L NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1236 RanBD1 1. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CTAATGAGACGAGAGCAAGTA 0.383 NA 7 92 2.0095e-06 2.70342e-06 0.001984 1 0 RANBP2 5903 broad.mit.edu 37 2 109382540 109382540 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:109382540G>A uc002tem.3 + 20 5671 c.5545G>A c.(5545-5547)GCT>ACT p.A1849T NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1849 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CTCAGAAAAAGCTTCTAAGTT 0.383 NA 13 215 0 0 0.001368 0 0 UGGT1 56886 broad.mit.edu 37 2 128941255 128941255 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:128941255A>G uc002tps.2 + 38 4429 c.4251A>G c.(4249-4251)CTA>CTG p.L1417L UGGT1_uc002tpr.2_Silent_p.L1393L NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1417 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 TCAGTGCACTATATGTTGTGG 0.433 NA 11 59 0 0 0.001368 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131904333 131904333 + Missense_Mutation SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:131904333T>C uc002tsg.3 + 8 1216 c.656T>C c.(655-657)TTT>TCT p.F219S PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsj.3_Missense_Mutation_p.F218S|PLEKHB2_uc002tsf.3_Missense_Mutation_p.F227S|PLEKHB2_uc010zao.1_Missense_Mutation_p.F169S|PLEKHB2_uc010zap.1_3'UTR|PLEKHB2_uc010zaq.1_3'UTR|PLEKHB2_uc002tsi.3_Missense_Mutation_p.F260S NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B 219 membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) GGGTCTCTATTTTGGGTCTTC 0.502 NA 33 219 0 0 0.002445 0 0 LOC150776 150776 broad.mit.edu 37 2 132277131 132277131 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:132277131G>T uc002tsz.3 + 2 588 c.141G>T c.(139-141)CAG>CAT p.Q47H LOC150776_uc002tsy.3_RNA Homo sapiens cDNA FLJ41352 fis, clone BRAWH2014645. 0 AGCTTAGGCAGTTCACACTCG 0.587 NA 8 33 1.12685e-05 1.47015e-05 0.004482 1 0 THSD7B 80731 broad.mit.edu 37 2 137814464 137814464 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:137814464C>T uc002tva.1 + 2 521 c.521C>T c.(520-522)GCG>GTG p.A174V THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.A64V NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGAACTCGCGCGGTCATAGCT 0.502 NA 50 205 0 0 0.00361 0 0 LRP1B 53353 broad.mit.edu 37 2 141747165 141747165 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:141747165T>A uc002tvj.1 - 17 3678 c.2706A>T c.(2704-2706)AGA>AGT p.R902S LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 902 Extracellular (Potential).|LDL-receptor class A 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACAAAGCCATCTCTTGGGGA 0.413 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 22 108 0 0 0.002299 0 0 NEB 4703 broad.mit.edu 37 2 152472566 152472566 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:152472566C>G uc010fnx.2 - 72 10701 c.10510G>C c.(10510-10512)GAT>CAT p.D3504H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3504 Nebulin 96. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGAATGGCATCCAGACGCAAG 0.378 NA 3 42 0 0 0.004672 0 0 LY75 4065 broad.mit.edu 37 2 160755507 160755507 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:160755507C>A uc002ubc.3 - 2 227 c.158G>T c.(157-159)TGG>TTG p.W53L LY75_uc002ubb.3_Missense_Mutation_p.W53L|LY75_uc010fos.2_Missense_Mutation_p.W53L|LY75_uc010fot.1_Missense_Mutation_p.W53L NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 53 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TGCTACTATCCAGCCATACAC 0.488 NA 32 109 8.16721e-17 1.3358e-16 0.002096 1 0 ITGB6 3694 broad.mit.edu 37 2 160958301 160958301 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:160958301A>G uc002ubh.2 - 15 2329 c.2313T>C c.(2311-2313)AAT>AAC p.N771N ITGB6_uc002ubg.2_5'Flank|ITGB6_uc010fou.2_Silent_p.N771N|ITGB6_uc010zcq.1_Silent_p.N729N|ITGB6_uc010fov.1_Silent_p.N771N NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 771 Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 TATAAGTTACATTTTTAAAAG 0.308 NA 16 80 0 0 0.008871 0 0 SCN3A 6328 broad.mit.edu 37 2 165946747 165946747 + Missense_Mutation SNP A A C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:165946747A>C uc002ucx.2 - 28 6408 c.5916T>G c.(5914-5916)AGT>AGG p.S1972R SCN3A_uc010zcy.1_Missense_Mutation_p.S455R|SCN3A_uc002ucy.2_Missense_Mutation_p.S1923R|SCN3A_uc002ucz.2_Missense_Mutation_p.S1923R NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1972 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GTTTTGTTACACTATCATAGG 0.358 NA 5 35 0 0 0.001168 0 0 XIRP2 129446 broad.mit.edu 37 2 168102059 168102059 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:168102059C>G uc002udx.2 + 8 4175 c.4157C>G c.(4156-4158)TCT>TGT p.S1386C XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1211C|XIRP2_uc010fpq.2_Missense_Mutation_p.S1164C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1211 Xin 24. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GATGTTAGTTCTGTCAGATAC 0.343 NA 28 82 0 0 0.008361 0 0 TTN 7273 broad.mit.edu 37 2 179614245 179614245 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:179614245A>G uc002unb.2 - 46 13106 c.12882T>C c.(12880-12882)TTT>TTC p.F4294F TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCAGGGAGTAAAGGGACCAG 0.393 NA 9 110 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179632810 179632810 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:179632810C>A uc010zfg.1 - 39 9460 c.9236G>T c.(9235-9237)TGT>TTT p.C3079F TTN_uc010zfh.1_Missense_Mutation_p.C3033F|TTN_uc010zfi.1_Missense_Mutation_p.C3033F|TTN_uc010zfj.1_Missense_Mutation_p.C3033F|TTN_uc002unb.2_Missense_Mutation_p.C3079F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3079 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAAACTTCACATTCAAACAT 0.393 NA 12 92 1.02788e-11 1.57984e-11 0.00499 1 0 CCDC141 285025 broad.mit.edu 37 2 179736949 179736949 + Missense_Mutation SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:179736949T>C uc002unf.1 - 3 322 c.265A>G c.(265-267)AGC>GGC p.S89G NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 89 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CGAAGGAGGCTAAGTTCTTCC 0.453 NA 8 85 0 0 0.004482 0 0 COL3A1 1281 broad.mit.edu 37 2 189870935 189870935 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:189870935A>T uc002uqj.1 + 42 3160 c.3043A>T c.(3043-3045)AAC>TAC p.N1015Y NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1015 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TAATCAGGGAAACCCTGGATC 0.303 NA 12 60 0 0 0.000978 0 0 C2orf66 401027 broad.mit.edu 37 2 197674047 197674047 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:197674047G>T uc002utv.2 - 1 954 c.65C>A c.(64-66)CCT>CAT p.P22H NM_213608 NP_998773 Q6UXQ4 CB066_HUMAN hypothetical protein LOC401027 precursor 22 extracellular region 0 TAGCAGGAGAGGTGCTCTGGT 0.507 NA 15 187 2.62699e-14 4.19869e-14 0.003163 1 0 C2orf67 151050 broad.mit.edu 37 2 210887823 210887823 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:210887823A>T uc002vds.2 - 15 3022 c.2814T>A c.(2812-2814)GAT>GAA p.D938E C2orf67_uc002vdt.2_Missense_Mutation_p.D896E NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 938 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) TTTCAACCTGATCCTTTTTTT 0.448 NA 10 69 0 0 0.006214 0 0 TRIP12 9320 broad.mit.edu 37 2 230724103 230724103 + Nonsense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:230724103G>A uc002vpw.1 - 3 395 c.286C>T c.(286-288)CAG>TAG p.Q96* TRIP12_uc002vpx.1_Nonsense_Mutation_p.Q138*|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Nonsense_Mutation_p.Q96* NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 96 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TCAGTATGCTGAAGTGCTTTT 0.433 NA 7 224 0 0 0.001984 0 0 COL6A3 1293 broad.mit.edu 37 2 238249699 238249699 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:238249699C>A uc002vwl.2 - 38 8145 c.7860G>T c.(7858-7860)ATG>ATT p.M2620I COL6A3_uc002vwo.2_Missense_Mutation_p.M2414I|COL6A3_uc010znj.1_Missense_Mutation_p.M2013I|COL6A3_uc002vwj.2_Missense_Mutation_p.M1I NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2620 VWFA 12.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGATGAAAGCCATGTCGATGT 0.527 NA 48 169 1.56793e-16 2.54958e-16 0.00361 1 0 OR6B2 389090 broad.mit.edu 37 2 240969109 240969109 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:240969109G>T uc002vyr.2 - 2 784 c.738C>A c.(736-738)ACC>ACA p.T246T OR6B2_uc010zoc.1_Silent_p.T246T NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) CGGTGACCACGGTGAGGTGAG 0.572 NA 4 52 0.00909568 0.00994674 0.009096 1 0 CAPN10 11132 broad.mit.edu 37 2 241535790 241535790 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:241535790G>A uc002vzk.1 + 8 1517 c.1333G>A c.(1333-1335)GGC>AGC p.G445S CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.G317S|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 445 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CCCCGTGGCTGGCACCGCGTG 0.667 NA 6 69 0 0 0.001168 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242741367 242741367 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:242741367C>A uc002wcj.1 + 3 422 c.291C>A c.(289-291)CTC>CTA p.L97L NM_022134 NP_071417 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 97 Lumenal (Potential). biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) ACCCCTGGCTCTTCCTGGCGC 0.662 NA 11 47 0.000673444 0.000778973 0.008291 1 0 C20orf54 113278 broad.mit.edu 37 20 744476 744476 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:744476A>T uc002wed.3 - 3 1078 c.739T>A c.(739-741)TGC>AGC p.C247S C20orf54_uc002wee.2_Missense_Mutation_p.C247S NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 247 sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 GCCTCCCAGCACCTGGGTTGA 0.617 NA 10 52 0 0 0.008291 0 0 TGM6 343641 broad.mit.edu 37 20 2384386 2384386 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:2384386A>G uc002wfy.1 + 9 1314 c.1253A>G c.(1252-1254)AAG>AGG p.K418R TGM6_uc010gal.1_Missense_Mutation_p.K418R NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 418 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) TCAAACACGAAGAAGATTGGG 0.582 NA 17 80 0 0 0.00499 0 0 C20orf103 24141 broad.mit.edu 37 20 9496977 9496977 + Silent SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:9496977G>C uc002wni.1 + 4 673 c.444G>C c.(442-444)TCG>TCC p.S148S C20orf103_uc010zrc.1_Silent_p.S104S NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 148 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) ACGACTCCTCGGAGAAAACCC 0.572 NA 6 71 0 0 0.001984 0 0 BTBD3 22903 broad.mit.edu 37 20 11898955 11898955 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:11898955G>T uc002wnz.2 + 1 391 c.32G>T c.(31-33)TGT>TTT p.C11F BTBD3_uc002wny.2_Intron|BTBD3_uc002woa.2_Intron|BTBD3_uc010zrf.1_Intron|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 11 ovary(2)|central_nervous_system(1) 3 AACATGAAATGTCTCACCTTC 0.333 NA 56 246 6.75472e-32 1.19539e-31 0.00361 1 0 TMEM90B 79953 broad.mit.edu 37 20 24565510 24565510 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:24565510A>G uc002wtw.1 + 3 1132 c.499A>G c.(499-501)ACA>GCA p.T167A NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 167 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 CTCAAGCGACACAGAGAGTGA 0.562 NA 19 123 0 0 0.010504 0 0 HCK 3055 broad.mit.edu 37 20 30662469 30662469 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:30662469G>T uc002wxh.2 + 5 544 c.373G>T c.(373-375)GAG>TAG p.E125* HCK_uc010gdy.2_Nonsense_Mutation_p.E104*|HCK_uc002wxi.2_Nonsense_Mutation_p.E103* NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 125 SH3. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CACCCGGAAGGAGGGCTACAT 0.537 NA 14 102 0.000422831 0.000498337 0.004007 1 0 BPIL3 128859 broad.mit.edu 37 20 31622623 31622623 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:31622623C>G uc010zuc.1 + 4 357 c.357C>G c.(355-357)AAC>AAG p.N119K BPIL3_uc010zud.1_Missense_Mutation_p.N58K NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 119 extracellular region lipid binding ovary(1)|pancreas(1) 2 CAGCCACCAACCGGCTTCTGC 0.577 NA 26 69 0 0 0.00632 0 0 GDF5 8200 broad.mit.edu 37 20 34022074 34022074 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:34022074C>T uc002xck.1 - 2 1458 c.1139G>A c.(1138-1140)CGG>CAG p.R380Q GDF5_uc010gfc.1_Missense_Mutation_p.R380Q|uc002xcj.2_Missense_Mutation_p.P162L|GDF5_uc010zvc.1_Missense_Mutation_p.R380Q NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 380 R -> Q (in BDA2; reduces activity; impairs processing). cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) TGGGGCCCGCCGTTTTCGCCG 0.582 NA 52 123 0 0 0.00361 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44505598 44505598 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:44505598C>T uc002xqd.2 + 2 604 c.401C>T c.(400-402)ACC>ATC p.T134I ZSWIM3_uc010zxg.1_Missense_Mutation_p.T128I NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 134 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) CAGCCCACAACCAAAAAAGAC 0.502 NA 8 40 0 0 0.00308 0 0 ZMYND8 23613 broad.mit.edu 37 20 45905216 45905216 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:45905216C>A uc002xta.1 - 11 1516 c.1262G>T c.(1261-1263)GGC>GTC p.G421V ZMYND8_uc010ghq.1_Missense_Mutation_p.G98V|ZMYND8_uc010ghr.1_Missense_Mutation_p.G396V|ZMYND8_uc002xst.1_Missense_Mutation_p.G396V|ZMYND8_uc002xsu.1_Missense_Mutation_p.G421V|ZMYND8_uc002xsv.1_Missense_Mutation_p.G396V|ZMYND8_uc002xsw.1_Missense_Mutation_p.G173V|ZMYND8_uc002xsx.1_Missense_Mutation_p.G173V|ZMYND8_uc002xsy.1_Missense_Mutation_p.G396V|ZMYND8_uc002xsz.1_Missense_Mutation_p.G358V|ZMYND8_uc010zxy.1_Missense_Mutation_p.G448V|ZMYND8_uc002xtb.1_Missense_Mutation_p.G441V|ZMYND8_uc002xss.2_Missense_Mutation_p.G421V|ZMYND8_uc010zxz.1_Missense_Mutation_p.G416V|ZMYND8_uc002xtc.1_Missense_Mutation_p.G441V|ZMYND8_uc002xtd.1_Missense_Mutation_p.G416V|ZMYND8_uc002xte.1_Missense_Mutation_p.G421V|ZMYND8_uc010zya.1_Missense_Mutation_p.G421V|ZMYND8_uc002xtf.1_Missense_Mutation_p.G441V|ZMYND8_uc002xtg.2_Missense_Mutation_p.G415V|ZMYND8_uc010ghs.1_Missense_Mutation_p.G415V NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 421 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AATCCGGCGGCCTGTGCCCCC 0.577 NA 9 87 0.000978159 0.00112448 0.000978 1 0 ZMYND8 23613 broad.mit.edu 37 20 45918993 45918993 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:45918993C>A uc002xta.1 - 7 880 c.626G>T c.(625-627)TGC>TTC p.C209F ZMYND8_uc010ghr.1_Missense_Mutation_p.C184F|ZMYND8_uc002xst.1_Missense_Mutation_p.C184F|ZMYND8_uc002xsu.1_Missense_Mutation_p.C209F|ZMYND8_uc002xsv.1_Missense_Mutation_p.C184F|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.C184F|ZMYND8_uc002xsz.1_Missense_Mutation_p.C146F|ZMYND8_uc010zxy.1_Missense_Mutation_p.C236F|ZMYND8_uc002xtb.1_Missense_Mutation_p.C229F|ZMYND8_uc002xss.2_Missense_Mutation_p.C209F|ZMYND8_uc010zxz.1_Missense_Mutation_p.C204F|ZMYND8_uc002xtc.1_Missense_Mutation_p.C229F|ZMYND8_uc002xtd.1_Missense_Mutation_p.C204F|ZMYND8_uc002xte.1_Missense_Mutation_p.C209F|ZMYND8_uc010zya.1_Missense_Mutation_p.C209F|ZMYND8_uc002xtf.1_Missense_Mutation_p.C229F|ZMYND8_uc002xtg.2_Missense_Mutation_p.C203F|ZMYND8_uc010ghs.1_Missense_Mutation_p.C203F NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 209 Bromo. protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GGCTTCTGTGCAGCCATACAT 0.453 NA 12 83 0.00010058 0.000121606 0.001368 1 0 PREX1 57580 broad.mit.edu 37 20 47268039 47268039 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:47268039G>T uc002xtw.1 - 22 2573 c.2550C>A c.(2548-2550)CAC>CAA p.H850Q PREX1_uc002xtv.1_Missense_Mutation_p.H147Q NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 850 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CGTGTTCCAGGTGCACGTTGT 0.562 NA 22 47 9.86323e-18 1.64192e-17 0.003954 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47592674 47592674 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:47592674T>A uc002xtx.3 + 14 2048 c.1896T>A c.(1894-1896)GAT>GAA p.D632E NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 632 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CTGTTCAGGATGACCCTGAGC 0.512 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 5 31 0 0 0.000602 0 0 ZNF831 128611 broad.mit.edu 37 20 57829409 57829409 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:57829409T>A uc002yan.2 + 5 4645 c.4645T>A c.(4645-4647)TCT>ACT p.S1549T NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1549 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GAGACCTTCATCTGGACAAAG 0.498 NA 11 44 0 0 0.008291 0 0 EDN3 1908 broad.mit.edu 37 20 57896227 57896227 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:57896227C>A uc002yap.2 + 3 890 c.521C>A c.(520-522)ACC>AAC p.T174N EDN3_uc002yao.1_Missense_Mutation_p.T174N|EDN3_uc002yaq.2_Missense_Mutation_p.T174N|EDN3_uc002yar.2_Missense_Mutation_p.T174N|EDN3_uc002yas.2_Missense_Mutation_p.T174N NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 174 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) CACTTTTGCACCCAAACTCTG 0.567 NA 7 121 1.12685e-05 1.47015e-05 0.004482 1 0 C20orf195 79025 broad.mit.edu 37 20 62187726 62187726 + Nonsense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr20:62187726C>A uc002yfj.2 + 2 802 c.710C>A c.(709-711)TCG>TAG p.S237* C20orf195_uc002yfk.2_Nonsense_Mutation_p.S237* NM_024059 NP_076964 Q9BVV2 CT195_HUMAN hypothetical protein LOC79025 237 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CCAGCCACATCGGAGCAGTAT 0.652 NA 43 136 8.20599e-20 1.39926e-19 0.002852 1 0 TPTE 7179 broad.mit.edu 37 21 10934071 10934071 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr21:10934071G>T uc002yip.1 - 16 1274 c.906C>A c.(904-906)ATC>ATA p.I302I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.I284I|TPTE_uc002yir.1_Silent_p.I264I|TPTE_uc010gkv.1_Silent_p.I164I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 302 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATCAATCATGATTCTAACGA 0.313 NA 16 291 7.07596e-05 8.66728e-05 0.006122 1 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971137 31971137 + Silent SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr21:31971137T>A uc011adc.1 - 1 57 c.57A>T c.(55-57)GGA>GGT p.G19G KRTAP22-1_uc011add.1_5'Flank NM_181604 NP_853635 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 19 intermediate filament 0 GGCCTTCGTATCCACAGCACC 0.567 NA 9 70 0 0 0.008291 0 0 ITSN1 6453 broad.mit.edu 37 21 35229038 35229038 + Splice_Site SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr21:35229038A>T uc002yta.1 + 30 3930 c.3662_splice c.e30-2 p.W1221_splice DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Splice_Site_p.W1216_splice|ITSN1_uc002ytj.2_Splice_Site_p.W1216_splice|ITSN1_uc010gmm.1_Splice_Site|ITSN1_uc002yti.1_Splice_Site NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 TGTGTTTTCCAGGGTGTTCAG 0.502 NA 18 62 0 0 0.006122 0 0 TTC3 7267 broad.mit.edu 37 21 38537963 38537963 + Silent SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr21:38537963A>T uc002yvz.2 + 33 3552 c.3447A>T c.(3445-3447)GCA>GCT p.A1149A TTC3_uc011aee.1_Silent_p.A839A|TTC3_uc002ywa.2_Silent_p.A1149A|TTC3_uc002ywb.2_Silent_p.A1149A|TTC3_uc010gnf.2_Silent_p.A914A|TTC3_uc002ywc.2_Silent_p.A839A|TTC3_uc002ywd.1_Silent_p.A213A NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1149 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TAGAAAAAGCAGGAGGTTTAA 0.408 Ovarian(38;194 1649 35661) NA 54 305 0 0 0.00361 0 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr21:44524456G>A uc002zda.1 - 2 185 c.101C>T c.(100-102)TCT>TTT p.S34F U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 34 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTGCAACCGAGAGCACCTGTC 0.358 NA 13 37 0 0 0.00245 0 0 RRP1 8568 broad.mit.edu 37 21 45220427 45220427 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr21:45220427G>T uc002zds.2 + 10 1014 c.921G>T c.(919-921)CTG>CTT p.L307L RRP1_uc011aez.1_Silent_p.L307L|RRP1_uc010gpk.1_Silent_p.L157L|RRP1_uc010gpl.1_Silent_p.L205L|RRP1_uc010gpm.1_Silent_p.L174L NM_003683 NP_003674 P56182 RRP1_HUMAN ribosomal RNA processing 1 homolog 307 rRNA processing nucleolus|preribosome, small subunit precursor 0 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CTAACAGACTGTTTGAAATGG 0.557 NA 7 44 2.0095e-06 2.70342e-06 0.001984 1 0 PCNT 5116 broad.mit.edu 37 21 47801665 47801665 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr21:47801665G>T uc002zji.3 + 16 3329 c.3222G>T c.(3220-3222)CGG>CGT p.R1074R PCNT_uc002zjj.2_Silent_p.R956R NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1074 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AGACACTTCGGCTTCAGAGTG 0.413 NA 9 242 1.58986e-06 2.16484e-06 0.008291 1 0 PRAME 23532 broad.mit.edu 37 22 22892596 22892596 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr22:22892596C>T uc002zwf.2 - 4 661 c.505G>A c.(505-507)GAG>AAG p.E169K LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.E153K|PRAME_uc010gtr.2_Missense_Mutation_p.E169K|PRAME_uc002zwg.2_Missense_Mutation_p.E169K|PRAME_uc002zwh.2_Missense_Mutation_p.E169K|PRAME_uc002zwi.2_Missense_Mutation_p.E169K|PRAME_uc002zwj.2_Missense_Mutation_p.E169K|PRAME_uc002zwk.2_Missense_Mutation_p.E169K NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 169 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) AAGGGCTGCTCTGCCTCTGTG 0.493 Melanoma(73;1707 1838 15168 27201) NA 8 89 0 0 0.00308 0 0 SMTN 6525 broad.mit.edu 37 22 31487707 31487707 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr22:31487707T>A uc003ajl.1 + 11 1724 c.1506T>A c.(1504-1506)AGT>AGA p.S502R SMTN_uc003ajk.1_Missense_Mutation_p.S502R|SMTN_uc003ajm.1_Missense_Mutation_p.S502R|SMTN_uc011ale.1_Missense_Mutation_p.S556R|SMTN_uc011alf.1_Missense_Mutation_p.S558R|SMTN_uc003ajn.1_Missense_Mutation_p.S494R|SMTN_uc011alg.1_Intron|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 502 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 TCAGCACCAGTAGTGGGGGCA 0.647 NA 3 21 0 0 0.009096 0 0 FBLN1 2192 broad.mit.edu 37 22 45929753 45929753 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr22:45929753G>T uc003bgj.1 + 7 906 c.759G>T c.(757-759)GAG>GAT p.E253D FBLN1_uc003bgg.1_Missense_Mutation_p.E253D|FBLN1_uc003bgh.2_Missense_Mutation_p.E253D|FBLN1_uc010gzz.2_Missense_Mutation_p.E291D|FBLN1_uc003bgi.1_Missense_Mutation_p.E253D NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 253 EGF-like 2; calcium-binding (Potential). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTGGCTATGAGCTCACAGAGG 0.612 NA 11 141 2.80697e-09 4.14398e-09 0.000978 1 0 BRD1 23774 broad.mit.edu 37 22 50167916 50167916 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr22:50167916C>A uc003biv.2 - 12 3629 c.3142G>T c.(3142-3144)GGG>TGG p.G1048W BRD1_uc011arf.1_Missense_Mutation_p.G774W|BRD1_uc011arg.1_Missense_Mutation_p.G1097W|BRD1_uc011arh.1_Missense_Mutation_p.G1048W|BRD1_uc003biu.3_Missense_Mutation_p.G1179W NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 1048 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GTCGGCTCCCCGTGGACGCGG 0.552 NA 27 168 2.79863e-10 4.23189e-10 0.004656 1 0 BTD 686 broad.mit.edu 37 3 15677046 15677046 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:15677046G>T uc003cah.2 + 2 263 c.160G>T c.(160-162)GAG>TAG p.E54* BTD_uc011avv.1_Nonsense_Mutation_p.E56*|BTD_uc011avw.1_Nonsense_Mutation_p.E56*|BTD_uc011avx.1_Nonsense_Mutation_p.E34* NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 54 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 TGACCATCACGAGGCTGAATA 0.562 NA 14 91 3.27435e-08 4.67408e-08 0.00245 1 0 CRTAP 10491 broad.mit.edu 37 3 33174052 33174052 + Missense_Mutation SNP G G C rs111525897 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:33174052G>C uc003cfl.3 + 5 1048 c.928G>C c.(928-930)GAC>CAC p.D310H CRTAP_uc010hfz.2_Missense_Mutation_p.D267H|CRTAP_uc003cfm.2_Missense_Mutation_p.D131H|CRTAP_uc003cfn.2_Missense_Mutation_p.D131H NM_006371 NP_006362 O75718 CRTAP_HUMAN cartilage associated protein precursor 310 proteinaceous extracellular matrix binding 0 CCTAGTGAACGACCTGAAGAA 0.453 NA 13 134 0 0 0.001855 0 0 SCN10A 6336 broad.mit.edu 37 3 38739040 38739040 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:38739040C>T uc003ciq.2 - 27 5671 c.5671G>A c.(5671-5673)GAT>AAT p.D1891N NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1891 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AAACCTTCATCTGGGAGTGAT 0.498 NA 12 67 0 0 0.000978 0 0 SCN11A 11280 broad.mit.edu 37 3 38888217 38888217 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:38888217C>T uc011ays.1 - 26 5543 c.5344G>A c.(5344-5346)GGG>AGG p.G1782R NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1782 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTGGCCACCCCAAAGCTAGAC 0.473 NA 8 63 0 0 0.00308 0 0 EIF1B 10289 broad.mit.edu 37 3 40352529 40352529 + Silent SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:40352529T>A uc003ckc.2 + 2 437 c.177T>A c.(175-177)CTT>CTA p.L59L uc003ckb.2_5'Flank NM_005875 NP_005866 O60739 EIF1B_HUMAN translation factor sui1 homolog 59 regulation of translational initiation protein binding|translation initiation factor activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) AAAAGAAACTTGTGAAAGCTT 0.398 NA 7 58 0 0 0.006214 0 0 MAP4 4134 broad.mit.edu 37 3 47956349 47956349 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:47956349G>C uc003csb.2 - 8 2483 c.1957C>G c.(1957-1959)CCA>GCA p.P653A MAP4_uc003csc.3_Missense_Mutation_p.P653A|MAP4_uc011bbf.1_Missense_Mutation_p.P630A|MAP4_uc003csf.3_Missense_Mutation_p.P670A NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 653 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CTGTTGCATGGTTTCCTTTCC 0.433 NA 22 172 0 0 0.010504 0 0 FLNB 2317 broad.mit.edu 37 3 58120479 58120479 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:58120479C>A uc003djj.2 + 27 4816 c.4651C>A c.(4651-4653)CTG>ATG p.L1551M FLNB_uc010hne.2_Missense_Mutation_p.L1582M|FLNB_uc003djk.2_Missense_Mutation_p.L1551M|FLNB_uc010hnf.2_Missense_Mutation_p.L1551M|FLNB_uc003djl.2_Missense_Mutation_p.L1382M|FLNB_uc003djm.2_Missense_Mutation_p.L1382M NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1551 Filamin 14. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CGGGGAAGGCCTGCTTGCTGT 0.483 NA 10 129 1.41608e-15 2.29601e-15 0.001855 1 0 MAGI1 9223 broad.mit.edu 37 3 65342407 65342407 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:65342407C>G uc003dmn.2 - 23 4561 c.4035G>C c.(4033-4035)AAG>AAC p.K1345N MAGI1_uc003dmm.2_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 1374 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CGTCTCGTCTCTTCTCGTGCT 0.692 NA 12 56 0 0 0.00245 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433087 73433087 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:73433087G>T uc003dpl.1 - 10 2726 c.2630C>A c.(2629-2631)GCC>GAC p.A877D PDZRN3_uc011bgh.1_Missense_Mutation_p.A534D|PDZRN3_uc010hoe.1_Missense_Mutation_p.A575D|PDZRN3_uc011bgf.1_Missense_Mutation_p.A594D|PDZRN3_uc011bgg.1_Missense_Mutation_p.A597D NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 877 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GTAGTGCTGGGCGTGCGCCGG 0.647 NA 8 69 5.18039e-06 6.90309e-06 0.00308 1 0 VGLL3 389136 broad.mit.edu 37 3 87017813 87017813 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:87017813G>A uc003dqn.2 - 3 1228 c.864C>T c.(862-864)ACC>ACT p.T288T NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AGGTAGCAGAGGTGACTGTAG 0.522 NA 8 43 0 0 0.006214 0 0 OR5H6 79295 broad.mit.edu 37 3 97983997 97983997 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:97983997A>T uc003dsi.1 + 1 869 c.869A>T c.(868-870)GAG>GTG p.E290V NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 GATATGATGGAGTCTCTATTT 0.403 NA 5 66 0 0 0.001168 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069321 114069321 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:114069321T>A uc003ebi.2 - 4 1784 c.1604A>T c.(1603-1605)CAG>CTG p.Q535L ZBTB20_uc003ebj.2_Missense_Mutation_p.Q462L|ZBTB20_uc010hqp.2_Missense_Mutation_p.Q462L|ZBTB20_uc003ebk.2_Missense_Mutation_p.Q462L|ZBTB20_uc003ebl.2_Missense_Mutation_p.Q462L|ZBTB20_uc003ebm.2_Missense_Mutation_p.Q462L|ZBTB20_uc003ebn.2_Missense_Mutation_p.Q462L|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CTGGGTCTGCTGGCCTGCCAG 0.652 NSCLC(69;748 1344 9802 11203 30933) NA 16 69 0 0 0.004007 0 0 LRRC58 116064 broad.mit.edu 37 3 120053875 120053875 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:120053875C>T uc003edr.2 - 3 837 c.741G>A c.(739-741)TTG>TTA p.L247L NM_001099678 NP_001093148 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 247 LRR 9. 0 GBM - Glioblastoma multiforme(114;0.147) AACGAACAACCAATGGATTTC 0.403 NA 5 45 0 0 0.001168 0 0 STXBP5L 9515 broad.mit.edu 37 3 121137243 121137243 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:121137243G>C uc003eec.3 + 27 3498 c.3358G>C c.(3358-3360)GGT>CGT p.G1120R STXBP5L_uc011bji.1_Missense_Mutation_p.G1096R NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1120 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) TCCTGGACCAGGTAGTATAGA 0.502 NA 3 33 0 0 0.000602 0 0 POLQ 10721 broad.mit.edu 37 3 121217437 121217437 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:121217437C>T uc003eee.3 - 13 2169 c.2040G>A c.(2038-2040)ATG>ATA p.M680I NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 680 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CCACCCTTTTCATTGAAGTTG 0.423 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 9 85 0 0 0.004482 0 0 XRN1 54464 broad.mit.edu 37 3 142123810 142123810 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:142123810C>T uc003eus.2 - 16 1889 c.1822G>A c.(1822-1824)GAG>AAG p.E608K XRN1_uc010huu.2_Missense_Mutation_p.E74K|XRN1_uc003eut.2_Missense_Mutation_p.E608K|XRN1_uc003euu.2_Missense_Mutation_p.E608K|XRN1_uc003euv.1_Missense_Mutation_p.E469K NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 608 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 TAGATAAACTCTGTGTCTCTA 0.413 NA 7 85 0 0 0.00308 0 0 EHHADH 1962 broad.mit.edu 37 3 184910894 184910894 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:184910894G>C uc003fpf.2 - 7 1319 c.1292C>G c.(1291-1293)ACC>AGC p.T431S EHHADH_uc011brs.1_Missense_Mutation_p.T335S NM_001966 NP_001957 Q08426 ECHP_HUMAN enoyl-Coenzyme A, hydratase/3-hydroxyacyl 431 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity ovary(3) 3 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) AAAGAAGTGGGTGCCAATGAC 0.448 NA 8 76 0 0 0.00308 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:195505836G>C uc011bto.1 - 3 12691 c.12231C>G c.(12229-12231)CAC>CAG p.H4077Q MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597 NA 2 5 0 0 0.004672 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833297 23833297 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:23833297G>T uc003gqs.2 - 3 432 c.312C>A c.(310-312)GAC>GAA p.D104E PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 104 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) AGGGCAATCCGTCTTCATCCA 0.512 Esophageal Squamous(29;694 744 13796 34866 44181) NA 62 278 6.00099e-30 1.05535e-29 0.00361 1 0 TMEM156 80008 broad.mit.edu 37 4 39000506 39000506 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:39000506G>C uc003gto.2 - 2 220 c.112C>G c.(112-114)CTG>GTG p.L38V TMEM156_uc010ifj.2_Missense_Mutation_p.L38V NM_024943 NP_079219 Q8N614 TM156_HUMAN transmembrane protein 156 38 Extracellular (Potential). integral to membrane skin(1) 1 CACACTTCCAGACATGATAGC 0.323 NA 13 40 0 0 0.00245 0 0 CORIN 10699 broad.mit.edu 37 4 47765481 47765481 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:47765481G>T uc003gxm.2 - 4 625 c.532C>A c.(532-534)CTC>ATC p.L178I CORIN_uc011bzf.1_Missense_Mutation_p.L39I|CORIN_uc011bzg.1_Missense_Mutation_p.L111I|CORIN_uc011bzh.1_Missense_Mutation_p.L178I|CORIN_uc011bzi.1_Missense_Mutation_p.L178I|CORIN_uc003gxn.3_Missense_Mutation_p.L178I NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 178 Extracellular (Potential).|FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 AGGCGATGGAGATATGTGAAA 0.493 NA 6 44 3.59834e-05 4.51603e-05 0.001168 1 0 NFXL1 152518 broad.mit.edu 37 4 47900034 47900034 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:47900034C>A uc010igh.2 - 9 1331 c.1154G>T c.(1153-1155)TGT>TTT p.C385F NFXL1_uc003gxp.2_Missense_Mutation_p.C385F|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.C385F NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 385 NF-X1-type 3. integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 ACATTCTCCACAAGCACCAAC 0.318 NA 5 48 5.9392e-07 8.20663e-07 0.001168 1 0 SPATA18 132671 broad.mit.edu 37 4 52926965 52926965 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:52926965G>T uc003gzl.2 + 3 489 c.211G>T c.(211-213)GTG>TTG p.V71L SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.V71L|SPATA18_uc003gzk.1_Missense_Mutation_p.V71L NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 71 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TAATGATGGTGTGGAAACAAT 0.308 NA 18 71 1.67942e-08 2.4345e-08 0.006122 1 0 UBA6 55236 broad.mit.edu 37 4 68504691 68504691 + Missense_Mutation SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:68504691T>C uc003hdg.3 - 19 1758 c.1706A>G c.(1705-1707)GAT>GGT p.D569G UBA6_uc003hdh.1_Missense_Mutation_p.D95G NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 569 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TTCCACATTATCTAATGCTGT 0.343 NA 6 97 0 0 0.001168 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68938203 68938203 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:68938203G>T uc003hdt.1 - 5 401 c.352C>A c.(352-354)CCA>ACA p.P118T LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 118 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TGTTCATCTGGACTGAAGAAC 0.294 NA 11 67 5.50884e-06 7.28881e-06 0.001368 1 0 GRID2 2895 broad.mit.edu 37 4 94690466 94690466 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:94690466A>T uc011cdt.1 + 15 2724 c.2466A>T c.(2464-2466)AAA>AAT p.K822N GRID2_uc011cdu.1_Missense_Mutation_p.K727N NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 822 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CAAAGCAGAAAGGAGGCGCCC 0.522 NA 6 81 0 0 0.00308 0 0 UNC5C 8633 broad.mit.edu 37 4 96124011 96124011 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:96124011C>A uc003htp.1 - 12 2161 c.2007G>T c.(2005-2007)CTG>CTT p.L669L UNC5C_uc010ilc.1_Silent_p.L688L NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 669 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AATGTCCTACCAGGGCGTAGG 0.597 NA 16 90 3.32936e-07 4.62319e-07 0.006122 1 0 NDST4 64579 broad.mit.edu 37 4 115997569 115997569 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:115997569G>T uc003ibu.2 - 2 1303 c.624C>A c.(622-624)CCC>CCA p.P208P NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 208 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCTCAACCTTGGGGGCTTTGG 0.398 NA 21 111 7.41877e-09 1.08102e-08 0.001882 1 0 INTU 27152 broad.mit.edu 37 4 128564978 128564978 + Missense_Mutation SNP C C T rs147508682 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:128564978C>T uc003ifk.1 + 2 519 c.449C>T c.(448-450)ACA>ATA p.T150I INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 150 ovary(1) 1 AATCAGAAGACAGGAGTCATT 0.378 NA 16 101 0 0 0.00499 0 0 FGB 2244 broad.mit.edu 37 4 155489541 155489541 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr4:155489541G>A uc003ioa.3 + 5 766 c.727G>A c.(727-729)GAA>AAA p.E243K FGB_uc003iob.3_Missense_Mutation_p.E240K|FGB_uc010ipv.2_Missense_Mutation_p.E181K|FGB_uc010ipw.2_Missense_Mutation_p.E240K|FGB_uc003ioc.3_Missense_Mutation_p.E24K NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 243 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AGAATGTGAGGAAATTATCAG 0.318 NSCLC(106;1133 1613 21870 46110 52656) NA 4 79 0 0 0.000602 0 0 DNAH5 1767 broad.mit.edu 37 5 13923425 13923425 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:13923425G>A uc003jfd.2 - 4 444 c.402C>T c.(400-402)GAC>GAT p.D134D DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 134 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTTTGGAAGGGTCAGTCCTGA 0.433 NA Kartagener_syndrome 59 331 0 0 0.00361 0 0 CDH9 1007 broad.mit.edu 37 5 26881273 26881273 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:26881273T>A uc003jgs.1 - 12 2511 c.2342A>T c.(2341-2343)TAT>TTT p.Y781F CDH9_uc011cnv.1_Missense_Mutation_p.Y374F NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 781 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 ATCACCCCCATACATATCGGC 0.413 Melanoma(8;187 585 15745 40864 52829) NA 41 181 0 0 0.00361 0 0 SPEF2 79925 broad.mit.edu 37 5 35776410 35776410 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:35776410T>A uc003jjo.2 + 29 4241 c.4130T>A c.(4129-4131)CTT>CAT p.L1377H SPEF2_uc003jjp.1_Missense_Mutation_p.L863H|SPEF2_uc003jjr.2_5'UTR NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1377 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCATTGGCTCTTCTTGAAGAT 0.348 NA 5 138 0 0 0.001168 0 0 C6 729 broad.mit.edu 37 5 41186174 41186174 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:41186174C>G uc003jmk.2 - 6 934 c.724G>C c.(724-726)GAG>CAG p.E242Q C6_uc003jml.1_Missense_Mutation_p.E242Q NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 242 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGTCATACCTCAAAGCCGACA 0.408 NA 8 62 0 0 0.006214 0 0 OXCT1 5019 broad.mit.edu 37 5 41870398 41870398 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:41870398C>T uc003jmn.2 - 1 394 c.63G>A c.(61-63)GGG>GGA p.G21G NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 21 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) ACCAGGTTGCCCCAGATCCGC 0.642 NA 3 23 0 0 0.000602 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64468799 64468799 + Missense_Mutation SNP T T G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:64468799T>G uc003jtp.2 - 23 3761 c.2947A>C c.(2947-2949)ATT>CTT p.I983L ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 983 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CACAGAACAATCCGATGCTTG 0.443 NA 5 111 0 0 0.000602 0 0 BDP1 55814 broad.mit.edu 37 5 70806102 70806102 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:70806102G>T uc003kbp.1 + 17 3446 c.3183G>T c.(3181-3183)GAG>GAT p.E1061D BDP1_uc003kbn.1_Missense_Mutation_p.E1061D|BDP1_uc003kbo.2_Missense_Mutation_p.E1061D NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1061 5.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GTGAAATGGAGACGGATTTGA 0.433 NA 7 73 0.00198382 0.00223928 0.001984 1 0 PRR16 51334 broad.mit.edu 37 5 120021828 120021828 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:120021828C>T uc003ksq.2 + 2 502 c.339C>T c.(337-339)ATC>ATT p.I113I PRR16_uc003ksp.2_Silent_p.I90I|PRR16_uc003ksr.2_Silent_p.I43I NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 113 Pro-rich. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CGTCTGCTATCCTCACGGTCC 0.527 NA 6 81 0 0 0.001984 0 0 FBN2 2201 broad.mit.edu 37 5 127686665 127686666 + Missense_Mutation DNP GG GG TT TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:127686665_127686666GG>TT uc003kuu.2 - 21 3145_3146 c.2706_2707CC>AA c.(2704-2709)ATCCAG>ATAAAG p.Q903K FBN2_uc003kuv.2_Missense_Mutation_p.Q870K NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 903 TB 4. 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) CGGCTGTCCTGGATGTTGAGCC 0.53 NA 11 64 0 0 0.004672 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128862031 128862031 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:128862031A>T uc003kvb.1 + 4 950 c.950A>T c.(949-951)TAT>TTT p.Y317F ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 317 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GGGAAACGATATTCATACAAA 0.393 NA 5 77 0 0 0.001168 0 0 TRPC7 57113 broad.mit.edu 37 5 135549258 135549258 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:135549258G>T uc003lbn.1 - 11 2454 c.2451C>A c.(2449-2451)AGC>AGA p.S817R TRPC7_uc010jef.1_Missense_Mutation_p.S754R|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.S748R|TRPC7_uc010jei.1_Missense_Mutation_p.S693R|TRPC7_uc010jej.1_Missense_Mutation_p.S369R NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 818 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CATAGCGCAGGCTGGAGATAT 0.483 NA 13 42 5.50884e-06 7.28881e-06 0.001368 1 0 PCDHA4 56144 broad.mit.edu 37 5 140186910 140186910 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:140186910C>A uc003lhi.2 + 1 239 c.138C>A c.(136-138)GGC>GGA p.G46G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G46G|PCDHA4_uc011daa.1_Silent_p.G46G NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 46 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTCGTGGGCCGCATCGCGC 0.662 NA 16 61 6.72482e-11 1.02239e-10 0.003163 1 0 PCDHA4 56144 broad.mit.edu 37 5 140189058 140189058 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:140189058G>T uc003lhi.2 + 1 2387 c.2286G>T c.(2284-2286)GAG>GAT p.E762D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.E762D|PCDHA4_uc011daa.1_Missense_Mutation_p.E762D NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 762 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCTGGTGAGGGCCCACCCA 0.622 NA 21 69 2.4624e-09 3.64487e-09 0.008871 1 0 PCDHA11 56138 broad.mit.edu 37 5 140250586 140250586 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:140250586C>A uc003lia.2 + 1 2756 c.1898C>A c.(1897-1899)ACG>AAG p.T633K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T633K NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 633 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAAGCACAACGCGTGCCCTG 0.662 NA 10 44 5.50884e-06 7.28881e-06 0.001368 1 0 PCDHB10 56126 broad.mit.edu 37 5 140573083 140573083 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:140573083C>G uc003lix.2 + 1 1132 c.958C>G c.(958-960)CAG>GAG p.Q320E NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 320 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATAAATATACAGGCAATGGA 0.368 NA 4 97 0 0 0.009096 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589623 140589623 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:140589623G>T uc003liz.2 + 1 1333 c.1144G>T c.(1144-1146)GTT>TTT p.V382F PCDHB12_uc011dak.1_Missense_Mutation_p.V45F NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 382 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGAAAGATGGTTTGTTCTAT 0.458 NA 10 38 1.08611e-07 1.52708e-07 0.000978 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140774087 140774087 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:140774087A>G uc003lkd.1 + 1 2605 c.1707A>G c.(1705-1707)ACA>ACG p.T569T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.T569T NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 569 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTCCCCACAGACGGTTCCA 0.667 NA 6 117 0 0 0.004482 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149215939 149215939 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:149215939G>T uc003lrc.2 + 8 1963 c.1921G>T c.(1921-1923)GGC>TGC p.G641C PPARGC1B_uc003lrb.1_Missense_Mutation_p.G641C|PPARGC1B_uc003lrd.2_Missense_Mutation_p.G602C|PPARGC1B_uc003lrf.2_Missense_Mutation_p.G620C|PPARGC1B_uc003lre.1_Missense_Mutation_p.G620C NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 641 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTCCCCTGAGGGCCTCTCACT 0.592 NA 6 90 3.59834e-05 4.51603e-05 0.001168 1 0 HAVCR1 26762 broad.mit.edu 37 5 156469677 156469677 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:156469677C>A uc010jij.1 - 6 983 c.798G>T c.(796-798)GTG>GTT p.V266V HAVCR1_uc011ddl.1_Silent_p.V97V|HAVCR1_uc003lwi.2_Silent_p.V266V NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 261 Extracellular (Potential). interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAGACTCTGTCACGGTGTCAT 0.348 NA 12 125 1.52009e-12 2.36881e-12 0.003163 1 0 FAM71B 153745 broad.mit.edu 37 5 156589905 156589905 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:156589905C>A uc003lwn.2 - 2 1471 c.1371G>T c.(1369-1371)GCG>GCT p.A457A NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 457 Bipartite nuclear localization signal (Potential). nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTTGTCCCCCGCTCTCCTGC 0.483 NA 30 148 2.08457e-15 3.36047e-15 0.002096 1 0 CYFIP2 26999 broad.mit.edu 37 5 156819862 156819862 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:156819862C>T uc003lwq.2 + 33 3754 c.3616C>T c.(3616-3618)CGG>TGG p.R1206W CYFIP2_uc011ddn.1_Missense_Mutation_p.R1180W|CYFIP2_uc011ddo.1_Missense_Mutation_p.R1010W|CYFIP2_uc003lwr.2_Missense_Mutation_p.R1206W|CYFIP2_uc003lws.2_Missense_Mutation_p.R1206W|CYFIP2_uc003lwt.2_Missense_Mutation_p.R1109W|CYFIP2_uc011ddp.1_Missense_Mutation_p.R940W|CYFIP2_uc003lwv.2_Missense_Mutation_p.R161W NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1231 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGCCGACCGGATCAGGAA 0.498 NA 5 95 0 0 0.001168 0 0 GABRG2 2566 broad.mit.edu 37 5 161580234 161580234 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:161580234G>T uc003lyz.3 + 9 1622 c.1264G>T c.(1264-1266)GAA>TAA p.E422* GABRG2_uc010jjc.2_Nonsense_Mutation_p.E470*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.E430*|GABRG2_uc011dej.1_Nonsense_Mutation_p.E327* NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 422 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTGCTGTTTTGAAGATTGTCG 0.468 NA 27 97 3.01185e-09 4.43477e-09 0.003954 1 0 ODZ2 57451 broad.mit.edu 37 5 167642143 167642143 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:167642143C>A uc010jjd.2 + 21 3917 c.3917C>A c.(3916-3918)TCT>TAT p.S1306Y ODZ2_uc003lzr.3_Missense_Mutation_p.S1076Y|ODZ2_uc003lzt.3_Missense_Mutation_p.S679Y|ODZ2_uc010jje.2_Missense_Mutation_p.S570Y NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CGCGTCAAGTCTCTGAGTGGA 0.582 NA 10 58 7.48243e-07 1.02883e-06 0.006214 1 0 DOCK2 1794 broad.mit.edu 37 5 169446071 169446071 + Missense_Mutation SNP A A C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:169446071A>C uc003maf.2 + 33 3420 c.3340A>C c.(3340-3342)ATG>CTG p.M1114L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.M606L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1114 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTCTTCGACATGATGCTGTG 0.463 NA 47 214 0 0 0.00361 0 0 HRH2 3274 broad.mit.edu 37 5 175110816 175110816 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:175110816C>G uc003mdd.2 + 1 2353 c.580C>G c.(580-582)CCG>GCG p.P194A HRH2_uc003mdc.3_Missense_Mutation_p.P194A NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 194 Helical; Name=5; (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) CTTCTACCTCCCGCTACTGAT 0.542 NA 4 51 0 0 0.009096 0 0 F13A1 2162 broad.mit.edu 37 6 6145961 6145961 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:6145961C>A uc003mwv.2 - 15 2213 c.2090G>T c.(2089-2091)CGG>CTG p.R697L F13A1_uc011dib.1_Missense_Mutation_p.G591C NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 697 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GACCCAGGGCCGGCACACTTC 0.542 NA 16 74 6.94344e-10 1.04152e-09 0.006122 1 0 GCNT2 2651 broad.mit.edu 37 6 10529565 10529565 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:10529565A>G uc010joo.2 + 3 972 c.421A>G c.(421-423)AAA>GAA p.K141E GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.K140E|GCNT2_uc010jon.2_Missense_Mutation_p.K140E NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 141 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AGGTGCAGTGAAACAGTTACT 0.517 NA 13 100 0 0 0.00245 0 0 CCDC90A 63933 broad.mit.edu 37 6 13802537 13802537 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:13802537C>T uc003nbd.2 - 3 705 c.577G>A c.(577-579)GTC>ATC p.V193I CCDC90A_uc010jpf.2_RNA NM_001031713 NP_001026883 Q96AQ8 CC90A_HUMAN coiled-coil domain containing 90A precursor 193 integral to membrane|mitochondrion 0 Breast(50;0.0027)|Ovarian(93;0.0964) all_hematologic(90;0.117) AGGATCTTGACCAATGCAGAC 0.438 NA 14 106 0 0 0.003163 0 0 OR14J1 442191 broad.mit.edu 37 6 29274833 29274833 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:29274833G>T uc011dln.1 + 1 367 c.367G>T c.(367-369)GCA>TCA p.A123S NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAGGTACGCAGCAATCTGTCA 0.478 NA 46 116 7.88023e-25 1.3772e-24 0.00361 1 0 OR5V1 81696 broad.mit.edu 37 6 29323943 29323943 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:29323943A>G uc011dlo.1 - 1 112 c.30T>C c.(28-30)ACT>ACC p.T10T NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 TGATGAATTCAGTTATAGCTG 0.353 Ovarian(32;43 883 21137 32120 42650) NA 40 72 0 0 0.00874 0 0 DPCR1 135656 broad.mit.edu 37 6 30920784 30920784 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:30920784C>G uc003nsg.2 + 3 4072 c.4072C>G c.(4072-4074)CAG>GAG p.Q1358E NM_080870 NP_543146 Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 482 Cytoplasmic (Potential). integral to membrane 0 CACACTAACCCAGAACACCCA 0.522 NA 8 38 0 0 0.00308 0 0 TNXB 7148 broad.mit.edu 37 6 31977528 31977528 + Missense_Mutation SNP C C G rs116018894 by1000genomes TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:31977528C>G uc011dpc.1 - 12 2376 c.1467G>C c.(1465-1467)TGG>TGC p.W489C NM_032470 NP_115859 P22105 TENX_HUMAN tenascin XB isoform 2 4105 Fibrinogen C-terminal. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCTCCATGTCCCAAAACACGT 0.667 NA 5 26 0 0 0.00308 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169207 32169207 + Missense_Mutation SNP C C G rs139568674 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:32169207C>G uc003obb.2 - 22 3965 c.3826G>C c.(3826-3828)GAG>CAG p.E1276Q NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1276 LNR 3.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CAGCCACACTCTGCAGTGTTG 0.617 NA 5 60 0 0 0.000602 0 0 NOTCH4 4855 broad.mit.edu 37 6 32181503 32181503 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:32181503C>A uc003obb.2 - 14 2421 c.2282G>T c.(2281-2283)GGG>GTG p.G761V NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 761 EGF-like 19.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GCACTGGGGCCCTGTGTGGCT 0.587 NA 14 90 2.32078e-09 3.44434e-09 0.003163 1 0 HLA-DMB 3109 broad.mit.edu 37 6 32903146 32903146 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:32903146G>A uc003ocl.1 - 5 981 c.748C>T c.(748-750)CCT>TCT p.P250S HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_RNA|HLA-DMB_uc010jud.1_Intron|HLA-DMB_uc010jue.1_Missense_Mutation_p.P80S|HLA-DMB_uc010juf.1_Intron NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 250 YXXZ motif.|Cytoplasmic (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 CCAGGAAGAGGAGTGTAACCT 0.438 NA 10 126 0 0 0.000978 0 0 PKHD1 5314 broad.mit.edu 37 6 51524526 51524526 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:51524526C>T uc003pah.1 - 61 10674 c.10398G>A c.(10396-10398)AGG>AGA p.R3466R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3466 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGGTGATTTGCCTGATGGGTA 0.408 NA 12 158 0 0 0.000978 0 0 GSTA5 221357 broad.mit.edu 37 6 52701131 52701131 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:52701131C>G uc003pba.1 - 4 245 c.175G>C c.(175-177)GAG>CAG p.E59Q NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 59 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) CCGTCAATCTCAACCATTGGT 0.423 NA 12 266 0 0 0.001368 0 0 FAM83B 222584 broad.mit.edu 37 6 54805963 54805963 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:54805963G>A uc003pck.2 + 5 2310 c.2194G>A c.(2194-2196)GGC>AGC p.G732S NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 732 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) CTCTCCAAGTGGCACTACTAC 0.408 NA 8 146 0 0 0.004482 0 0 ZNF451 26036 broad.mit.edu 37 6 56999642 56999642 + Nonsense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:56999642C>T uc003pdm.1 + 7 900 c.676C>T c.(676-678)CAA>TAA p.Q226* ZNF451_uc003pdl.2_Nonsense_Mutation_p.Q226*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.Q226*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.Q226* NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TACTCAACAACAATATAGAGA 0.343 NA 8 70 0 0 0.00308 0 0 COL9A1 1297 broad.mit.edu 37 6 70964868 70964868 + Silent SNP C C A rs145650924 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:70964868C>A uc003pfg.3 - 23 1755 c.1596G>T c.(1594-1596)GGG>GGT p.G532G COL9A1_uc003pfe.3_Silent_p.G105G|COL9A1_uc003pff.3_Silent_p.G289G NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 532 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CTCCTTTGGGCCCAGGGAGAC 0.423 NA 35 117 6.5261e-18 1.09288e-17 0.00874 1 0 CD109 135228 broad.mit.edu 37 6 74521964 74521964 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:74521964G>C uc003php.2 + 29 4164 c.3739G>C c.(3739-3741)GCA>CCA p.A1247P CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.A1230P|CD109_uc010kba.2_Missense_Mutation_p.A1170P NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1247 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TAATATTTCCGCAAATGGTTT 0.318 NA 36 74 0 0 0.007835 0 0 GPR6 2830 broad.mit.edu 37 6 110300445 110300445 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:110300445C>A uc011eaw.1 + 2 310 c.130C>A c.(130-132)CTA>ATA p.L44I GPR6_uc011eav.1_Missense_Mutation_p.L59I|GPR6_uc003ptu.2_Missense_Mutation_p.L44I NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 44 Extracellular (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) TGCGGCGGCTCTAGGAGCCGG 0.493 NA 28 56 7.01153e-11 1.0631e-10 0.007291 1 0 HS3ST5 222537 broad.mit.edu 37 6 114378649 114378649 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:114378649C>T uc003pwg.3 - 2 845 c.813G>A c.(811-813)AAG>AAA p.K271K uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.K271K NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 271 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GATTTAGGAACTTCTCCACGA 0.413 NA 11 72 0 0 0.001368 0 0 TAAR1 134864 broad.mit.edu 37 6 132966566 132966566 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:132966566G>C uc003qdm.1 - 1 577 c.577C>G c.(577-579)CTG>GTG p.L193V NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 193 Helical; Name=5; (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) ATAAAGGTCAGTACCCCAGAT 0.353 NA 17 92 0 0 0.004007 0 0 UST 10090 broad.mit.edu 37 6 149275032 149275032 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:149275032A>G uc003qmg.2 + 4 768 c.472A>G c.(472-474)ACT>GCT p.T158A NM_005715 NP_005706 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 158 Lumenal (Potential). protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) AAATATAAGTACTGCCGAACA 0.299 NA 4 35 0 0 0.001168 0 0 TULP4 56995 broad.mit.edu 37 6 158882747 158882747 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:158882747G>T uc003qrf.2 + 6 2369 c.1012G>T c.(1012-1014)GAC>TAC p.D338Y TULP4_uc011efo.1_Missense_Mutation_p.D338Y|TULP4_uc003qrg.2_Missense_Mutation_p.D338Y NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 338 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CTTCACACTGGACACTCTCGT 0.428 NA 20 56 1.9806e-07 2.77086e-07 0.002299 1 0 FNDC1 84624 broad.mit.edu 37 6 159653518 159653518 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:159653518C>A uc010kjv.2 + 11 2174 c.1974C>A c.(1972-1974)CAC>CAA p.H658Q FNDC1_uc010kjw.1_Missense_Mutation_p.H543Q NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 658 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCTCCCTCCACCCCAAGGGCG 0.677 NA 8 33 0.000274275 0.000324617 0.004482 1 0 LPA 4018 broad.mit.edu 37 6 161032655 161032655 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:161032655G>T uc003qtl.2 - 17 2662 c.2542C>A c.(2542-2544)CAA>AAA p.Q848K NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3356 Kringle 30. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GACCAAGCTTGGCAGGTTCTT 0.507 NA 38 242 9.59449e-18 1.60194e-17 0.00361 1 0 PLG 5340 broad.mit.edu 37 6 161173185 161173185 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:161173185C>A uc003qtm.3 + 18 2227 c.2164C>A c.(2164-2166)CCT>ACT p.P722T NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 722 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGCCCAGCTCCCTGTGATTGA 0.473 NA 16 48 0.00316338 0.00355642 0.003163 1 0 RBAK 57786 broad.mit.edu 37 7 5104882 5104882 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:5104882G>T uc010kss.1 + 6 2119 c.1795G>T c.(1795-1797)GAA>TAA p.E599* LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Nonsense_Mutation_p.E599* NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 599 C2H2-type 13.|Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TGAATGTTACGAATGTGGAAA 0.378 NA 3 60 6.4e-05 7.85819e-05 0.004672 1 0 DGKB 1607 broad.mit.edu 37 7 14378261 14378261 + Missense_Mutation SNP A A C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:14378261A>C uc003ssz.2 - 22 2191 c.2004T>G c.(2002-2004)CAT>CAG p.H668Q DGKB_uc011jxt.1_Missense_Mutation_p.H649Q|DGKB_uc003sta.2_Missense_Mutation_p.H668Q|DGKB_uc011jxu.1_Missense_Mutation_p.H667Q NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 668 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TGGATCCTCCATGCATGCTTG 0.403 NA 13 99 0 0 0.001368 0 0 HOXA2 3199 broad.mit.edu 37 7 27140891 27140891 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:27140891C>A uc003syh.2 - 2 860 c.585G>T c.(583-585)AGG>AGT p.R195S NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 195 Homeobox. nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TGTGCTTCATCCTCCGGTTCT 0.493 NA 17 85 6.94344e-10 1.04152e-09 0.006122 1 0 ELMO1 9844 broad.mit.edu 37 7 36917705 36917705 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:36917705G>T uc003tfk.1 - 19 2039 c.1732C>A c.(1732-1734)CGG>AGG p.R578R ELMO1_uc003tfi.1_Silent_p.R98R|ELMO1_uc003tfj.1_Silent_p.R98R|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.R482R|ELMO1_uc010kxg.1_Silent_p.R578R NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 578 PH. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GGCGAAAGCCGACAATACCAA 0.418 NA 5 57 0.000602214 0.000699466 0.000602 1 0 POLM 27434 broad.mit.edu 37 7 44113476 44113476 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:44113476C>A uc003tjt.2 - 9 1312 c.1220G>T c.(1219-1221)AGG>ATG p.R407M POLM_uc003tjw.1_Missense_Mutation_p.R26M|POLM_uc003tju.2_Missense_Mutation_p.R370M|POLM_uc003tjx.2_Missense_Mutation_p.R327M|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.R57M NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN DNA-directed DNA polymerase mu 407 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 TGGGCAGGGCCTCGTGGATCC 0.612 NA DNA_polymerases_(catalytic_subunits) 19 78 0.00152264 0.00173266 0.010504 1 0 TBRG4 9238 broad.mit.edu 37 7 45141142 45141142 + Nonsense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:45141142G>A uc003tmv.2 - 9 1765 c.1639C>T c.(1639-1641)CAG>TAG p.Q547* TBRG4_uc003tmu.2_Nonsense_Mutation_p.Q372*|TBRG4_uc003tmw.2_Nonsense_Mutation_p.Q437*|TBRG4_uc003tmx.2_Nonsense_Mutation_p.Q437*|TBRG4_uc011kcd.1_Nonsense_Mutation_p.Q558* NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 547 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 CCAGTTGGCTGGGCAAGGTGA 0.592 NA 5 19 0 0 0.000602 0 0 ADCY1 107 broad.mit.edu 37 7 45650023 45650023 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:45650023A>T uc003tne.3 + 3 853 c.835A>T c.(835-837)ATG>TTG p.M279L ADCY1_uc003tnd.2_Missense_Mutation_p.M54L NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 279 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGCCATGGAGATGAAGGAGGA 0.602 NA 15 146 0 0 0.006122 0 0 UPP1 7378 broad.mit.edu 37 7 48143002 48143002 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:48143002G>A uc003toj.2 + 7 959 c.430G>A c.(430-432)GGG>AGG p.G144R UPP1_uc003tok.2_Missense_Mutation_p.G144R|UPP1_uc003tol.2_Missense_Mutation_p.G144R|UPP1_uc011kcg.1_Missense_Mutation_p.G144R|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 144 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 CACTTCTGGTGGGATAGGTAA 0.522 NA 6 89 0 0 0.001168 0 0 POM121L12 285877 broad.mit.edu 37 7 53104146 53104146 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:53104146C>A uc003tpz.2 + 1 798 c.782C>A c.(781-783)CCA>CAA p.P261Q NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 261 0 CAGCCCGCCCCATCCGCCATC 0.652 NA 9 47 5.16669e-11 7.87639e-11 0.000978 1 0 WBSCR27 155368 broad.mit.edu 37 7 73249147 73249147 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:73249147G>A uc003tzj.2 - 6 704 c.664C>T c.(664-666)CTG>TTG p.L222L RFC2_uc011kfa.1_Intron NM_152559 NP_689772 Q8N6F8 WBS27_HUMAN Williams-Beuren syndrome chromosome region 27 222 central_nervous_system(1) 1 Lung NSC(55;0.159) ATCCTTGGCAGAGATGCCGGA 0.642 NA 5 51 0 0 0.001168 0 0 RFC2 5982 broad.mit.edu 37 7 73668693 73668693 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:73668693A>G uc003uaj.2 - 1 46 c.21T>C c.(19-21)TGT>TGC p.C7C RFC2_uc011kfa.1_RNA|RFC2_uc003uak.2_Silent_p.C7C|RFC2_uc010lbp.2_5'UTR|RFC2_uc003ual.2_5'UTR NM_181471 NP_852136 P35250 RFC2_HUMAN replication factor C 2 isoform 1 7 cell cycle checkpoint|DNA strand elongation involved in DNA replication|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 DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding liver(1)|central_nervous_system(1) 2 CCGCGCCACCACAGACGGCCT 0.736 NA 3 8 0 0 0.004672 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73952477 73952477 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:73952477G>C uc003uaq.2 + 12 1814 c.1421G>C c.(1420-1422)GGC>GCC p.G474A GTF2IRD1_uc010lbq.2_Missense_Mutation_p.G506A|GTF2IRD1_uc003uap.2_Missense_Mutation_p.G474A|GTF2IRD1_uc003uar.1_Missense_Mutation_p.G474A NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 474 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 TCAGACAAGGGCAGCATGTCT 0.652 NA 6 80 0 0 0.00308 0 0 CACNA2D1 781 broad.mit.edu 37 7 81624225 81624225 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:81624225C>G uc003uhr.1 - 20 1949 c.1693G>C c.(1693-1695)GGA>CGA p.G565R NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 584 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GTTTTTTCTCCACTTTCCCCA 0.289 NA 7 63 0 0 0.00308 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762155 92762155 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:92762155G>T uc003umh.1 - 5 4346 c.3130C>A c.(3130-3132)CGC>AGC p.R1044S SAMD9L_uc003umj.1_Missense_Mutation_p.R1044S|SAMD9L_uc003umi.1_Missense_Mutation_p.R1044S|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1044S|SAMD9L_uc003umk.1_Missense_Mutation_p.R1044S|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1044S|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1044S|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1044 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TACACCTTGCGCTGTCTTGTA 0.358 NA 15 109 1.49906e-05 1.92884e-05 0.00245 1 0 SERPINE1 5054 broad.mit.edu 37 7 100777155 100777155 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:100777155C>T uc003uxt.2 + 5 1028 c.880C>T c.(880-882)CGC>TGC p.R294C SERPINE1_uc011kkj.1_Missense_Mutation_p.R279C|SERPINE1_uc003uxu.1_Missense_Mutation_p.R125C NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 294 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CAGGCTGCCCCGCCTCCTGGT 0.587 NA 3 37 0 0 0.009096 0 0 CUX1 1523 broad.mit.edu 37 7 101845330 101845330 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:101845330C>T uc003uyx.3 + 18 2791 c.2753C>T c.(2752-2754)CCC>CTC p.P918L CUX1_uc003uys.3_Missense_Mutation_p.P929L|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 918 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CCGATCGTGCCCATGTCCAAG 0.657 NA 9 62 0 0 0.000978 0 0 RELN 5649 broad.mit.edu 37 7 103163929 103163929 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:103163929G>T uc003vca.2 - 47 7559 c.7399C>A c.(7399-7401)CAG>AAG p.Q2467K RELN_uc010liz.2_Missense_Mutation_p.Q2467K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2467 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATGTCTGCTGCTTGTCAAAA 0.468 NSCLC(146;835 1944 15585 22231 52158) NA 22 111 1.9806e-07 2.77086e-07 0.002299 1 0 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NA 10 22 0 0 0.00361 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651013 121651013 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:121651013G>A uc003vjy.2 + 12 2308 c.1913G>A c.(1912-1914)GGT>GAT p.G638D PTPRZ1_uc003vjz.2_Missense_Mutation_p.G638D|PTPRZ1_uc011knt.1_Missense_Mutation_p.G88D NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 638 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ACTTCATCAGGTTCAGAAGAA 0.423 NA 14 94 0 0 0.003163 0 0 SPAM1 6677 broad.mit.edu 37 7 123594501 123594501 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:123594501G>C uc003vld.2 + 4 1279 c.877G>C c.(877-879)GAT>CAT p.D293H SPAM1_uc003vle.2_Missense_Mutation_p.D293H|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.D293H|SPAM1_uc010lku.2_Missense_Mutation_p.D293H NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 293 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) CAAAATACCTGATGCAAAAAG 0.413 NA 14 58 0 0 0.003163 0 0 DGKI 9162 broad.mit.edu 37 7 137148322 137148322 + Missense_Mutation SNP C C A rs78898727 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:137148322C>A uc003vtt.2 - 28 2673 c.2672G>T c.(2671-2673)CGC>CTC p.R891L DGKI_uc003vtu.2_Intron NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 891 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ACTCAGCATGCGTTTCCGCAG 0.507 NA 6 39 3.59834e-05 4.51603e-05 0.001168 1 0 BRAF 673 broad.mit.edu 37 7 140494268 140494268 + Splice_Site SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:140494268C>A uc003vwc.3 - 8 1042 c.981_splice c.e8-1 p.G327_splice NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) AATTTGGGGCCTGGAAAAATG 0.363 Colon(40;35 892 2973 5743 27438) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 4 84 1.23904e-05 1.60532e-05 0.000602 1 0 EPHB6 2051 broad.mit.edu 37 7 142568118 142568118 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:142568118G>A uc011kst.1 + 18 3546 c.2759G>A c.(2758-2760)CGC>CAC p.R920H EPHB6_uc011ksu.1_Missense_Mutation_p.R920H|EPHB6_uc003wbs.2_Missense_Mutation_p.R628H|EPHB6_uc003wbt.2_Missense_Mutation_p.R394H|EPHB6_uc003wbu.2_Missense_Mutation_p.R628H|EPHB6_uc003wbv.2_Missense_Mutation_p.R304H NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 920 Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) AAGATGATCCGCAAGCCAGAT 0.572 NA 27 111 0 0 0.00632 0 0 KEL 3792 broad.mit.edu 37 7 142651453 142651453 + Missense_Mutation SNP G G A rs61728832 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:142651453G>A uc003wcb.2 - 8 952 c.742C>T c.(742-744)CGG>TGG p.R248W NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 248 Extracellular (Potential). R -> Q (in KEL25 antigen). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) AGGTATTCCCGAAAGATCTGG 0.527 NA 11 74 0 0 0.001855 0 0 CLCN1 1180 broad.mit.edu 37 7 143039237 143039237 + Splice_Site SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:143039237T>C uc003wcr.1 + 15 1883 c.1796_splice c.e15+2 p.S599_splice CLCN1_uc011ktc.1_Splice_Site_p.S211_splice NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) CCAGCTCAGGTCAGGGGCACT 0.512 NA 8 27 0 0 0.004482 0 0 OR2A2 442361 broad.mit.edu 37 7 143806842 143806842 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:143806842C>A uc011ktz.1 + 1 167 c.167C>A c.(166-168)ACA>AAA p.T56K NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 56 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) AAGCTTCACACACCCATGTAC 0.473 NA 6 245 0.00198382 0.00223928 0.001984 1 0 OR2A7 401427 broad.mit.edu 37 7 143955988 143955988 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:143955988C>A uc011kuc.1 - 1 734 c.734G>T c.(733-735)TGT>TTT p.C245F OR2A9P_uc003wec.1_Intron|uc003wed.2_5'Flank NM_001005328 NP_001005328 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.14) TCCAATCACACAGAGGTGGGA 0.453 NA 15 340 7.93312e-07 1.08814e-06 0.00245 1 0 NOBOX 135935 broad.mit.edu 37 7 144097292 144097292 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:144097292C>A uc011kue.1 - 5 958 c.958G>T c.(958-960)GGG>TGG p.G320W NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 320 Homeobox. cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GAGCCGGCCCCCTTTACCATG 0.587 NA 10 77 6.40141e-05 7.85819e-05 0.000978 1 0 NOS3 4846 broad.mit.edu 37 7 150704248 150704248 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:150704248G>T uc003wif.2 + 17 2292 c.1996G>T c.(1996-1998)GCC>TCC p.A666S NOS3_uc011kuy.1_Missense_Mutation_p.A460S NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 666 Flavodoxin-like.|FMN (By similarity). anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CTTTGCTCGTGCCGTGGACAC 0.697 NA 22 98 3.08376e-08 4.42453e-08 0.00333 1 0 PRSS55 203074 broad.mit.edu 37 8 10383137 10383137 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:10383137G>T uc003wta.2 + 1 57 c.42G>T c.(40-42)ACG>ACT p.T14T uc010lru.2_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 14 proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 CCCTGGTCACGGGAACTCAGC 0.677 NA 5 43 8.12818e-05 9.89135e-05 0.001984 1 0 RP1L1 94137 broad.mit.edu 37 8 10465503 10465503 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:10465503C>A uc003wtc.2 - 4 6334 c.6105G>T c.(6103-6105)CAG>CAT p.Q2035H NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2035 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTTCAACCTCCTGGGCCTCTT 0.617 NA 15 160 0.00244969 0.0027596 0.00245 1 0 AMAC1L2 83650 broad.mit.edu 37 8 11189238 11189238 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:11189238T>A uc003wtp.1 + 1 744 c.623T>A c.(622-624)CTG>CAG p.L208Q NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 208 Helical; (Potential). integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) CTGGGGCTTCTGGTCTATCGT 0.617 NA 11 83 0 0 0.008291 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20073974 20073974 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:20073974A>G uc003wzp.2 + 11 1343 c.1129A>G c.(1129-1131)ATC>GTC p.I377V ATP6V1B2_uc003wzq.1_5'Flank NM_001693 NP_001684 P21281 VATB2_HUMAN vacuolar H+ATPase B2 377 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|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 0 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) AGAGGGGCAGATCTATGTGGA 0.493 Pancreas(119;1230 1726 3901 4036 31644) NA 4 35 0 0 0.000602 0 0 ADAM7 8756 broad.mit.edu 37 8 24326279 24326279 + Splice_Site SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:24326279G>T uc003xeb.2 + 7 693 c.580_splice c.e7-1 p.G194_splice NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TAACTTTACAGGGCATCCATG 0.308 NA 9 33 0.000442599 0.000519452 0.006214 1 0 MYST3 7994 broad.mit.edu 37 8 41792282 41792282 + Nonsense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:41792282C>T uc010lxb.2 - 18 4000 c.3456G>A c.(3454-3456)TGG>TGA p.W1152* MYST3_uc010lxc.2_Nonsense_Mutation_p.W1152*|MYST3_uc003xon.3_Nonsense_Mutation_p.W1152* NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1152 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TGCCTTTGGGCCATCCCTTTT 0.438 NA 31 437 0 0 0.002445 0 0 PLAT 5327 broad.mit.edu 37 8 42046462 42046462 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:42046462C>A uc003xos.2 - 4 452 c.243G>T c.(241-243)GTG>GTT p.V81V PLAT_uc010lxf.1_Intron|PLAT_uc010lxg.1_Silent_p.V81V|PLAT_uc003xot.2_Intron|PLAT_uc011lcm.1_Silent_p.V81V|PLAT_uc011lcn.1_Silent_p.V81V NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 81 Fibronectin type-I. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TTTTGACAGGCACTGAGTGGC 0.318 NA 115 232 3.79751e-50 6.76319e-50 0.00361 1 0 PREX2 80243 broad.mit.edu 37 8 68942818 68942818 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:68942818C>T uc003xxv.1 + 6 657 c.630C>T c.(628-630)AAC>AAT p.N210N PREX2_uc003xxu.1_Silent_p.N210N|PREX2_uc011lez.1_Silent_p.N145N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 210 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TCTGTTCCAACATAAACGAGG 0.468 NA 32 73 0 0 0.003271 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618756 77618756 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:77618756G>T uc003yav.2 + 2 2820 c.2433G>T c.(2431-2433)TTG>TTT p.L811F ZFHX4_uc003yat.1_Missense_Mutation_p.L811F|ZFHX4_uc003yau.1_Missense_Mutation_p.L811F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L811F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 811 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) ATCTGCACTTGGGCCTCGCCC 0.517 NA HNSCC(33;0.089) 10 13 2.17888e-05 2.79075e-05 0.006214 1 0 SLC7A13 157724 broad.mit.edu 37 8 87242447 87242447 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:87242447A>T uc003ydq.1 - 1 158 c.60T>A c.(58-60)AGT>AGA p.S20R SLC7A13_uc003ydr.1_Missense_Mutation_p.S20R NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 20 Helical; Name=1; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 TAAGCAAAAAACTTGTGCCCC 0.388 NA 9 131 0 0 0.008291 0 0 MMP16 4325 broad.mit.edu 37 8 89086833 89086833 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:89086833C>G uc003yeb.3 - 7 1504 c.1222G>C c.(1222-1224)GGT>CGT p.G408R MMP16_uc003yec.2_Missense_Mutation_p.V408L NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 408 Hemopexin-like 2.|Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 ACATCCTTACCTTTAAAGAAC 0.388 NA 6 73 0 0 0.001984 0 0 SLC26A7 115111 broad.mit.edu 37 8 92307866 92307866 + Missense_Mutation SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:92307866T>C uc003yex.2 + 5 690 c.412T>C c.(412-414)TCC>CCC p.S138P SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.S138P|SLC26A7_uc003yfa.2_Missense_Mutation_p.S138P NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 138 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) GCTGGGCTTATCCGACTTTGA 0.483 NA 9 85 0 0 0.008291 0 0 RAD54B 25788 broad.mit.edu 37 8 95403926 95403926 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:95403926C>A uc003ygk.2 - 10 1818 c.1720G>T c.(1720-1722)GGG>TGG p.G574W RAD54B_uc010may.1_Missense_Mutation_p.G381W|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TCCAACAACCCTTGAAGGCAG 0.398 NA Direct_reversal_of_damage|Homologous_recombination 133 202 1.19401e-59 2.13324e-59 0.00361 1 0 INTS8 55656 broad.mit.edu 37 8 95877917 95877917 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:95877917C>T uc003yhb.2 + 17 2386 c.2260C>T c.(2260-2262)CGG>TGG p.R754W INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.R581W NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 754 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TATCATGTATCGGTATGTATT 0.333 NA 12 284 0 0 0.00245 0 0 SLC25A32 81034 broad.mit.edu 37 8 104415420 104415420 + Missense_Mutation SNP T T G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:104415420T>G uc003yll.2 - 4 827 c.524A>C c.(523-525)AAG>ACG p.K175T SLC25A32_uc011lhr.1_Missense_Mutation_p.K43T NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 175 Solcar 2. folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) ACCTTCATACTTATATATTTT 0.323 NA 21 36 0 0 0.010504 0 0 CSMD3 114788 broad.mit.edu 37 8 113326767 113326767 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:113326767A>T uc003ynu.2 - 48 7599 c.7440T>A c.(7438-7440)AAT>AAA p.N2480K CSMD3_uc003yns.2_Missense_Mutation_p.N1682K|CSMD3_uc003ynt.2_Missense_Mutation_p.N2440K|CSMD3_uc011lhx.1_Missense_Mutation_p.N2376K|CSMD3_uc003ynw.1_Missense_Mutation_p.N191K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2480 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACATTTGAAGATTTGGGTAAC 0.393 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 121 0 0 0.000602 0 0 CSMD3 114788 broad.mit.edu 37 8 113668537 113668537 + Silent SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:113668537T>C uc003ynu.2 - 18 3009 c.2850A>G c.(2848-2850)GAA>GAG p.E950E CSMD3_uc003yns.2_Silent_p.E222E|CSMD3_uc003ynt.2_Silent_p.E910E|CSMD3_uc011lhx.1_Silent_p.E846E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 950 Extracellular (Potential).|CUB 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CATCATGAACTTCCAGAACAT 0.343 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 77 0 0 0.000602 0 0 TRPS1 7227 broad.mit.edu 37 8 116426404 116426404 + Silent SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:116426404A>G uc003ynz.2 - 6 4152 c.3693T>C c.(3691-3693)GCT>GCC p.A1231A TRPS1_uc011lhy.1_Silent_p.A1235A|TRPS1_uc003yny.2_Silent_p.A1244A|TRPS1_uc010mcy.2_Silent_p.A1231A NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1231 Transcriptional repressor domain (By similarity).|C2H2-type 6. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCATATGCAAAGCATACATCA 0.413 NA Langer-Giedion_syndrome 21 130 0 0 0.002299 0 0 CD274 29126 broad.mit.edu 37 9 5466808 5466808 + Missense_Mutation SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:5466808A>T uc003zje.2 + 6 881 c.829A>T c.(829-831)ACA>TCA p.T277S C9orf46_uc003zjd.2_Intron|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_Missense_Mutation_p.T163S NM_014143 NP_054862 Q9NZQ7 PD1L1_HUMAN CD274 molecule precursor 277 Cytoplasmic (Potential). cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation endomembrane system|integral to membrane receptor activity lung(1)|central_nervous_system(1) 2 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) CATCCAAGATACAAACTCAAA 0.348 NA T CIITA PMBL|Hodgkin Lymphona| 10 73 0 0 0.000978 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920563 5920563 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:5920563C>A uc003zjq.3 - 8 5649 c.5433G>T c.(5431-5433)TCG>TCT p.S1811S KIAA2026_uc010mht.2_Silent_p.S986S NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1811 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TTGAAAGGGACGACAATTCAG 0.398 NA 41 527 5.44703e-19 9.14905e-19 0.009718 1 0 PTPRD 5789 broad.mit.edu 37 9 8340448 8340448 + Silent SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:8340448A>T uc003zkk.2 - 41 5859 c.5148T>A c.(5146-5148)GCT>GCA p.A1716A PTPRD_uc003zkp.2_Silent_p.A1310A|PTPRD_uc003zkq.2_Silent_p.A1309A|PTPRD_uc003zkr.2_Silent_p.A1300A|PTPRD_uc003zks.2_Silent_p.A1309A|PTPRD_uc003zkl.2_Silent_p.A1707A|PTPRD_uc003zkm.2_Silent_p.A1703A|PTPRD_uc003zkn.2_Silent_p.A1305A|PTPRD_uc003zko.2_Silent_p.A1306A NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1716 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCCCCTGGGTAGCGATGTAGG 0.448 NA TSP Lung(15;0.13) 4 72 0 0 0.009096 0 0 MPDZ 8777 broad.mit.edu 37 9 13119528 13119528 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:13119528G>A uc010mia.1 - 38 5409 c.5352C>T c.(5350-5352)ACC>ACT p.T1784T MPDZ_uc003zkx.3_Silent_p.T49T|MPDZ_uc003zky.3_Silent_p.T318T|MPDZ_uc010mib.2_Silent_p.T489T|MPDZ_uc010mhx.2_Silent_p.T606T|MPDZ_uc011lmm.1_Silent_p.T643T|MPDZ_uc003zkz.3_Silent_p.T477T|MPDZ_uc010mhy.2_Silent_p.T1784T|MPDZ_uc010mhz.2_Silent_p.T1751T|MPDZ_uc011lmn.1_Silent_p.T1751T|MPDZ_uc003zlb.3_Silent_p.T1784T NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1784 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CCGCTTCTTGGGTGGCATTAC 0.398 NA 11 127 0 0 0.000978 0 0 MPDZ 8777 broad.mit.edu 37 9 13125264 13125264 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:13125264C>T uc010mia.1 - 34 4815 c.4758G>A c.(4756-4758)CAG>CAA p.Q1586Q MPDZ_uc003zky.3_Silent_p.Q148Q|MPDZ_uc010mib.2_Silent_p.Q291Q|MPDZ_uc010mhx.2_Silent_p.Q408Q|MPDZ_uc011lmm.1_Silent_p.Q445Q|MPDZ_uc003zkz.3_Silent_p.Q279Q|MPDZ_uc010mhy.2_Silent_p.Q1586Q|MPDZ_uc010mhz.2_Silent_p.Q1553Q|MPDZ_uc011lmn.1_Silent_p.Q1553Q|MPDZ_uc003zlb.3_Silent_p.Q1586Q NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1586 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CCATCAGAGACTGGGAGCTGT 0.517 NA 7 81 0 0 0.00308 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795682 17795682 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:17795682G>T uc003zna.2 + 9 1288 c.1000G>T c.(1000-1002)GGC>TGC p.G334C SH3GL2_uc011lmy.1_Missense_Mutation_p.G287C NM_003026 NP_003017 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 334 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding skin(1) 1 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GATGCTGCATGGCCATTCAGG 0.478 NA 6 38 1.06961e-07 1.50767e-07 0.00308 1 0 ANXA1 301 broad.mit.edu 37 9 75778406 75778406 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:75778406G>A uc004ajf.1 + 8 644 c.570G>A c.(568-570)GAG>GAA p.E190E ANXA1_uc004aje.1_Silent_p.E190E|ANXA1_uc004ajg.1_Silent_p.E190E NM_000700 NP_000691 P04083 ANXA1_HUMAN annexin I 190 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1) 2 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) ACCGATCTGAGGACTTTGGTG 0.388 NA 16 64 0 0 0.00499 0 0 PCSK5 5125 broad.mit.edu 37 9 78789943 78789943 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:78789943G>T uc004ajz.2 + 14 2336 c.1798G>T c.(1798-1800)GTG>TTG p.V600L PCSK5_uc004ajy.2_Missense_Mutation_p.V600L|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 600 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 CGGCACCTCCGTGCAGCCATA 0.443 NA 9 73 0.000978159 0.00112448 0.000978 1 0 FLJ46321 389763 broad.mit.edu 37 9 84604696 84604696 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:84604696C>G uc004amn.2 + 2 237 c.190C>G c.(190-192)CAG>GAG p.Q64E NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 64 integral to membrane 0 TTCTCAGCATCAGGGCAGAGC 0.398 NA 7 41 0 0 0.00308 0 0 DAPK1 1612 broad.mit.edu 37 9 90312088 90312088 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:90312088G>T uc004apc.2 + 22 2718 c.2580G>T c.(2578-2580)CTG>CTT p.L860L DAPK1_uc004apd.2_Silent_p.L860L|DAPK1_uc011ltg.1_Intron|DAPK1_uc011lth.1_Silent_p.L597L NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 860 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TCAGTTTCCTGAAGTCCCTTG 0.502 NA Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 9 56 1.12685e-05 1.47015e-05 0.004482 1 0 ROR2 4920 broad.mit.edu 37 9 94486199 94486199 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:94486199G>A uc004arj.1 - 9 2776 c.2577C>T c.(2575-2577)CCC>CCT p.P859P ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 859 Cytoplasmic (Potential).|Ser/Thr-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GGTGTGAGCTGGGCTTGGGGA 0.652 NA 9 68 0 0 0.006214 0 0 COL15A1 1306 broad.mit.edu 37 9 101747956 101747956 + Silent SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:101747956G>A uc004azb.1 + 3 416 c.210G>A c.(208-210)GGG>GGA p.G70G COL15A1_uc004aza.2_Silent_p.G70G NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 70 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) ACAGTTTCGGGCCTGGTGCCA 0.632 NA 9 30 0 0 0.008291 0 0 OR13F1 138805 broad.mit.edu 37 9 107267232 107267232 + Nonsense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:107267232C>A uc011lvm.1 + 1 689 c.689C>A c.(688-690)TCA>TAA p.S230* NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 AGAATCAGCTCAGTGGAAGGT 0.478 NA 38 144 4.92203e-23 8.54878e-23 0.00623 1 0 ACTL7B 10880 broad.mit.edu 37 9 111617373 111617373 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:111617373C>A uc004bdi.2 - 1 903 c.838G>T c.(838-840)GAC>TAC p.D280Y NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 280 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 AGCTCGTAGTCCACGCGCAGC 0.627 NA 14 52 3.27435e-08 4.67408e-08 0.00245 1 0 SUSD1 64420 broad.mit.edu 37 9 114904686 114904686 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:114904686C>G uc004bfu.2 - 5 661 c.620G>C c.(619-621)AGA>ACA p.R207T SUSD1_uc010mui.2_Missense_Mutation_p.R207T|SUSD1_uc010muj.2_Missense_Mutation_p.R207T NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 207 Sushi 1.|Extracellular (Potential). integral to membrane calcium ion binding 0 GAATCCTTCTCTGCAAGCATA 0.453 NA 15 204 0 0 0.00245 0 0 OR1L8 138881 broad.mit.edu 37 9 125329898 125329898 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:125329898G>T uc004bmp.1 - 1 859 c.859C>A c.(859-861)CCT>ACT p.P287T NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 TAGATAAAAGGATTGAGCATG 0.458 NA 15 123 4.7546e-09 6.94618e-09 0.004007 1 0 LAMC3 10319 broad.mit.edu 37 9 133932433 133932433 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:133932433C>G uc004caa.1 + 12 2155 c.2057C>G c.(2056-2058)TCC>TGC p.S686C NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 686 Laminin EGF-like 5; second part. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TTCTGTGAATCCTGTGCTCCG 0.622 NA 13 100 0 0 0.00245 0 0 TSC1 7248 broad.mit.edu 37 9 135781380 135781381 + Missense_Mutation DNP CG CG AA rs149439187 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr9:135781380_135781381CG>AA uc004cca.2 - 15 1818_1819 c.1584_1585CG>TT c.(1582-1587)GGCGCC>GGTTCC p.A529S TSC1_uc004ccb.3_Missense_Mutation_p.A528S|TSC1_uc011mcq.1_Missense_Mutation_p.A478S|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 529 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TTCACGCTGGCGCCCTGAGAAC 0.594 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 5 28 0 0 0.004672 0 0 MSL3 10943 broad.mit.edu 37 X 11790301 11790301 + Silent SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:11790301C>T uc004cuw.2 + 11 1413 c.1308C>T c.(1306-1308)GAC>GAT p.D436D MSL3_uc004cux.2_Silent_p.D377D|MSL3_uc011mig.1_Silent_p.D287D|MSL3_uc011mih.1_Silent_p.D424D|MSL3_uc004cuy.2_Silent_p.D270D NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 436 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTGTGCCTGACAATTACCCCC 0.463 NA 8 178 0 0 0.006214 0 0 DMD 1756 broad.mit.edu 37 X 32380907 32380907 + Nonsense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:32380907T>A uc004dda.1 - 37 5567 c.5323A>T c.(5323-5325)AAG>TAG p.K1775* DMD_uc004dcw.2_Nonsense_Mutation_p.K431*|DMD_uc004dcx.2_Nonsense_Mutation_p.K434*|DMD_uc004dcz.2_Nonsense_Mutation_p.K1652*|DMD_uc004dcy.1_Nonsense_Mutation_p.K1771*|DMD_uc004ddb.1_Nonsense_Mutation_p.K1767*|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1775 Spectrin 12.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTCCTACCTTTCCAGTCTTA 0.488 NA 12 80 0 0 0.000978 0 0 RPGR 6103 broad.mit.edu 37 X 38144877 38144877 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:38144877C>A uc004ded.1 - 15 3543 c.3375G>T c.(3373-3375)CAG>CAT p.Q1125H RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GTCGTTTTGACTGGACTGGCA 0.358 NA 34 231 5.43694e-19 9.14905e-19 0.005524 1 0 OTUD5 55593 broad.mit.edu 37 X 48781242 48781242 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:48781242G>C uc004dlu.2 - 7 1427 c.1366C>G c.(1366-1368)CGG>GGG p.R456G OTUD5_uc004dlt.3_Missense_Mutation_p.R451G|OTUD5_uc004dlv.2_Missense_Mutation_p.R451G|OTUD5_uc011mmp.1_Missense_Mutation_p.R234G NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 456 negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 GCTGAACTCCGCTGCCGCGGG 0.637 NA 4 14 0 0 0.009096 0 0 PAGE2 203569 broad.mit.edu 37 X 55116444 55116444 + Splice_Site SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:55116444A>T uc004duf.1 + 2 47 c.-7_splice c.e2-2 NM_207339 NP_997222 Q7Z2X7 GGEE2_HUMAN P antigen family, member 2 ovary(2) 2 TTCTGTTTGCAGTGGGAAATA 0.368 NA 3 46 0 0 0.004672 0 0 OGT 8473 broad.mit.edu 37 X 70783033 70783033 + Silent SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:70783033A>T uc004eaa.1 + 17 2419 c.2202A>T c.(2200-2202)ATA>ATT p.I734I BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.I724I|OGT_uc004eac.2_Silent_p.I595I|OGT_uc004ead.2_Silent_p.I353I NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 734 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) ACAATCGGATAGTTCTGAATG 0.343 NA 5 153 0 0 0.000602 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177403 89177403 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:89177403C>G uc004efe.2 + 2 368 c.319C>G c.(319-321)CGC>GGC p.R107G NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 107 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TGCTCGCAGACGCATTCTCCC 0.493 NA 16 150 0 0 0.010504 0 0 COL4A5 1287 broad.mit.edu 37 X 107807111 107807111 + Splice_Site SNP G G T rs104886350 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:107807111G>T uc004enz.1 + 4 434 c.232_splice c.e4-1 p.G78_splice COL4A5_uc011mso.1_Splice_Site_p.G78_splice NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GCATTTTTCAGGGTGATGATG 0.333 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 14 45 0.000422831 0.000498337 0.004007 1 0 COL4A5 1287 broad.mit.edu 37 X 107898561 107898561 + Missense_Mutation SNP G G T rs104886223 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:107898561G>T uc004enz.1 + 37 3449 c.3247G>T c.(3247-3249)GGT>TGT p.G1083C COL4A5_uc011mso.1_Missense_Mutation_p.G1083C NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1083 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GTGTTTTCAGGGTGAGCCTGG 0.388 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 18 54 4.96729e-08 7.07271e-08 0.008871 1 0 IRS4 8471 broad.mit.edu 37 X 107977781 107977781 + Missense_Mutation SNP T T A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:107977781T>A uc004eoc.2 - 1 1827 c.1794A>T c.(1792-1794)AAA>AAT p.K598N NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 598 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CATCGGATCCTTTCCCACTTC 0.537 NA 77 174 0 0 0.00361 0 0 TMEM164 84187 broad.mit.edu 37 X 109388104 109388104 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:109388104G>T uc004eom.2 + 5 905 c.586G>T c.(586-588)GGT>TGT p.G196C TMEM164_uc004eol.2_Missense_Mutation_p.G47C|TMEM164_uc010npq.2_Missense_Mutation_p.G157C NM_032227 NP_115603 Q5U3C3 TM164_HUMAN transmembrane protein 164 isoform b 196 integral to membrane large_intestine(1)|lung(1)|skin(1) 3 TTGGAAAGGAGGTAAGGCCAG 0.493 NA 5 95 3.59834e-05 4.51603e-05 0.001168 1 0 KIAA1210 57481 broad.mit.edu 37 X 118223471 118223471 + Silent SNP A A C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:118223471A>C uc004era.3 - 11 1722 c.1722T>G c.(1720-1722)CCT>CCG p.P574P NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 574 ovary(4)|skin(1) 5 TCTTATTGGTAGGTGAAGACC 0.488 NA 42 90 0 0 0.00874 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284525 118284525 + Silent SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:118284525C>A uc004era.3 - 1 18 c.18G>T c.(16-18)ACG>ACT p.T6T NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 6 ovary(4)|skin(1) 5 AGCCTCGAGGCGTCCAGCCGG 0.652 NA 8 70 2.17888e-05 2.79075e-05 0.006214 1 0 ODZ1 10178 broad.mit.edu 37 X 123519722 123519722 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:123519722C>A uc004euj.2 - 28 5924 c.5860G>T c.(5860-5862)GGC>TGC p.G1954C ODZ1_uc011muj.1_Missense_Mutation_p.G1960C|ODZ1_uc010nqy.2_Missense_Mutation_p.G1961C NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1954 YD 11.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AGCAATCGGCCATCTCGACTA 0.498 NA 8 159 0.000274275 0.000324617 0.004482 1 0 HTATSF1 27336 broad.mit.edu 37 X 135593508 135593508 + Missense_Mutation SNP C C T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:135593508C>T uc004ezw.2 + 10 2026 c.1604C>T c.(1603-1605)CCC>CTC p.P535L HTATSF1_uc004ezx.2_Missense_Mutation_p.P535L NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 535 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GAGGTTGGCCCCACAAAAGAG 0.418 NA 22 50 0 0 0.010504 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985169 140985169 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:140985169G>C uc011mwp.1 + 7 1625 c.1625G>C c.(1624-1626)GGC>GCC p.G542A MAGEC3_uc004fbs.2_Missense_Mutation_p.G244A|MAGEC3_uc010nsj.2_Missense_Mutation_p.G244A NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 542 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GATGACCAGGGCATGCCCAAG 0.478 NA 15 167 0 0 0.004007 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995914 140995915 + Missense_Mutation DNP GG GG TA TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:140995914_140995915GG>TA uc004fbt.2 + 4 3010_3011 c.2724_2725GG>TA c.(2722-2727)CTGGAT>CTTAAT p.D909N MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 909 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTTATACACTGGATGAAAAGGT 0.46 NA HNSCC(15;0.026) 33 341 0 0 0.004672 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718545 142718545 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:142718545A>G uc004fbx.2 - 2 756 c.380T>C c.(379-381)TTC>TCC p.F127S SLITRK4_uc004fby.2_Missense_Mutation_p.F127S NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 127 Extracellular (Potential).|LRR 3. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TATGCCAAGGAAAGTGTCAGC 0.418 NA 11 184 0 0 0.008291 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904874 144904874 + Missense_Mutation SNP C C G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:144904874C>G uc004fcd.2 + 5 1921 c.931C>G c.(931-933)CCA>GCA p.P311A SLITRK2_uc010nsp.2_Missense_Mutation_p.P311A|SLITRK2_uc010nso.2_Missense_Mutation_p.P311A|SLITRK2_uc011mwq.1_Missense_Mutation_p.P311A|SLITRK2_uc011mwr.1_Missense_Mutation_p.P311A|SLITRK2_uc011mws.1_Missense_Mutation_p.P311A|SLITRK2_uc004fcg.2_Missense_Mutation_p.P311A|SLITRK2_uc011mwt.1_Missense_Mutation_p.P311A NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 311 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAATCGTCCAACTCCTCG 0.552 NA 5 78 0 0 0.000602 0 0 AFF2 2334 broad.mit.edu 37 X 147743813 147743813 + Missense_Mutation SNP T T G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:147743813T>G uc004fcp.2 + 3 1044 c.565T>G c.(565-567)TCT>GCT p.S189A AFF2_uc004fco.2_Missense_Mutation_p.S185A|AFF2_uc004fcq.2_Missense_Mutation_p.S185A|AFF2_uc004fcr.2_Missense_Mutation_p.S185A|AFF2_uc011mxb.1_Missense_Mutation_p.S189A|AFF2_uc004fcs.2_Missense_Mutation_p.S185A NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 189 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) ACAGGACCAGTCTCAAGCCAA 0.493 NA 14 223 0 0 0.001855 0 0 AFF2 2334 broad.mit.edu 37 X 148037217 148037217 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:148037217C>A uc004fcp.2 + 11 2121 c.1642C>A c.(1642-1644)CAA>AAA p.Q548K AFF2_uc004fcq.2_Missense_Mutation_p.Q538K|AFF2_uc004fcr.2_Missense_Mutation_p.Q509K|AFF2_uc011mxb.1_Missense_Mutation_p.Q513K|AFF2_uc004fcs.2_Missense_Mutation_p.Q515K|AFF2_uc011mxc.1_Missense_Mutation_p.Q189K NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 548 Q -> P (in Ref. 1; AAC82513, 2; AAA99416 and 4; AAB71534). brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TATTTGTGGCCAAAATGAAAC 0.463 NA 33 401 2.09667e-21 3.63034e-21 0.003755 1 0 MAGEA10 4109 broad.mit.edu 37 X 151303295 151303295 + Missense_Mutation SNP C C A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:151303295C>A uc004ffk.2 - 5 1206 c.798G>T c.(796-798)GAG>GAT p.E266D MAGEA10_uc004ffl.2_Missense_Mutation_p.E266D NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 266 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GCTTCCTGGGCTCCCCATAAA 0.547 NA 12 114 0.00010058 0.000121606 0.001368 1 0 Unknown 0 broad.mit.edu 37 X 153626712 153626712 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrX:153626712G>T uc010nuv.1 - 1 467 c.151C>A c.(151-153)CCT>ACT p.P51T RPL10_uc004fkm.2_5'UTR|RPL10_uc004fko.2_5'UTR|RPL10_uc004fkn.1_5'Flank|RPL10_uc004fkp.1_5'Flank|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank Homo sapiens cDNA, FLJ97181. NA GCAGGCGGAGGAGCGCCTCTT 0.567 NA OREG0003599 type=REGULATORY REGION|Gene=RPL10|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 81 0.00198382 0.00223928 0.001984 1 0 NLGN4Y 22829 broad.mit.edu 37 Y 16952497 16952497 + Missense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chrY:16952497G>T uc004ftg.2 + 6 2058 c.1806G>T c.(1804-1806)GAG>GAT p.E602D NLGN4Y_uc004fte.2_Missense_Mutation_p.E434D|NLGN4Y_uc011nas.1_Missense_Mutation_p.E622D|NLGN4Y_uc004ftf.2_Missense_Mutation_p.E295D|NLGN4Y_uc004fth.2_Missense_Mutation_p.E602D NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 602 Extracellular (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 ACTTGAACGAGATATTCCAGT 0.478 NA 7 37 5.18039e-06 6.90309e-06 0.00308 1 0 SYCP1 6847 broad.mit.edu 37 1 115527385 115527386 + Frame_Shift_Ins INS - - A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:115527385_115527386insA uc001efr.2 + 30 2808_2809 c.2599_2600insA c.(2599-2601)CAAfs p.Q867fs SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Frame_Shift_Ins_p.Q867fs|SYCP1_uc009wgw.2_Frame_Shift_Ins_p.Q842fs NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 867 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAACTACAGCAAAGAGAAAAC 0.267 NA 9 153 --- --- --- --- NA NA NA NA NA FLG 2312 broad.mit.edu 37 1 152280635 152280635 + Frame_Shift_Del DEL C C - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:152280635delC uc001ezu.1 - 3 6763 c.6727delG c.(6727-6729)GTTfs p.V2243fs NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2243 Ser-rich.|Filaggrin 13. 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) TCCTGGCTAACACTGGATCCC 0.572 NA Ichthyosis 22 357 --- --- --- --- NA NA NA NA NA FMO1 2326 broad.mit.edu 37 1 171250038 171250038 + Frame_Shift_Del DEL C C - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:171250038delC uc009wvz.2 + 6 877 c.741delC c.(739-741)CTCfs p.L247fs FMO1_uc010pme.1_Frame_Shift_Del_p.L184fs|FMO1_uc001ghl.2_Frame_Shift_Del_p.L247fs|FMO1_uc001ghm.2_Frame_Shift_Del_p.L247fs|FMO1_uc001ghn.2_Frame_Shift_Del_p.L247fs NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 247 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAAATTCCCTCCCAACCCCAA 0.468 NA 16 126 --- --- --- --- NA NA NA NA NA SMG7 9887 broad.mit.edu 37 1 183511555 183511557 + In_Frame_Del DEL ACA ACA - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 ACA ACA - - ACA ACA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr1:183511555_183511557delACA uc001gqg.2 + 14 1882_1884 c.1760_1762delACA c.(1759-1764)GACAAC>GAC p.N589del SMG7_uc010pob.1_Intron|SMG7_uc001gqf.2_Intron|SMG7_uc001gqh.2_Intron|SMG7_uc001gqi.2_Intron|SMG7_uc010poc.1_In_Frame_Del_p.N547del NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 589 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GGAAAGAAGGACAACAACAAGAG 0.404 NA 19 90 --- --- --- --- NA NA NA NA NA NELL1 4745 broad.mit.edu 37 11 21594744 21594745 + Frame_Shift_Ins INS - - T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr11:21594744_21594745insT uc001mqe.2 + 19 2324_2325 c.2171_2172insT c.(2170-2172)GATfs p.D724fs NELL1_uc001mqf.2_Frame_Shift_Ins_p.D677fs|NELL1_uc009yid.2_Frame_Shift_Ins_p.D752fs|NELL1_uc010rdo.1_Frame_Shift_Ins_p.D667fs|NELL1_uc010rdp.1_Frame_Shift_Ins_p.D437fs|NELL1_uc001mqh.2_Frame_Shift_Ins_p.D269fs NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 724 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GGAGAGGTAGATTGCTGGCCAC 0.45 NA 13 68 --- --- --- --- NA NA NA NA NA FGD4 121512 broad.mit.edu 37 12 32735271 32735271 + Frame_Shift_Del DEL G G - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:32735271delG uc001rkz.2 + 4 947 c.470delG c.(469-471)AGGfs p.R157fs FGD4_uc001rlc.2_Frame_Shift_Del_p.R242fs|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Frame_Shift_Del_p.R269fs|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Frame_Shift_Del_p.R157fs NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 157 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AGTAGCTACAGGACTCCAGGC 0.507 NA 49 92 --- --- --- --- NA NA NA NA NA MAP3K12 7786 broad.mit.edu 37 12 53877180 53877180 + Frame_Shift_Del DEL A A - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:53877180delA uc001sdm.1 - 11 1565 c.1467delT c.(1465-1467)CTTfs p.L489fs MAP3K12_uc001sdn.1_Frame_Shift_Del_p.L522fs NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 489 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 TCTTCTTGATAAGCTTCTCCA 0.532 NA 23 153 --- --- --- --- NA NA NA NA NA MON2 23041 broad.mit.edu 37 12 62954583 62954583 + Frame_Shift_Del DEL G G - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr12:62954583delG uc001sre.2 + 26 4113 c.3722delG c.(3721-3723)TGGfs p.W1241fs MON2_uc009zqj.2_Frame_Shift_Del_p.W1241fs|MON2_uc010ssl.1_Frame_Shift_Del_p.W1169fs|MON2_uc010ssm.1_Frame_Shift_Del_p.W1218fs|MON2_uc010ssn.1_Frame_Shift_Del_p.W1241fs|MON2_uc001srf.2_Frame_Shift_Del_p.W1004fs|MON2_uc001srg.2_Frame_Shift_Del_p.W116fs NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1242 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) AATCTATGGTGGGCTGCGTGG 0.383 NA 14 94 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579471 7579471 + Frame_Shift_Del DEL G G - rs56275308 TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:7579471delG uc002gim.2 - 4 410 c.216delC c.(214-216)CCCfs p.P72fs TP53_uc002gig.1_Frame_Shift_Del_p.P72fs|TP53_uc002gih.2_Frame_Shift_Del_p.P72fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P72fs|TP53_uc010cni.1_Frame_Shift_Del_p.P72fs|TP53_uc002gij.2_Frame_Shift_Del_p.P72fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P33fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P87fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 72 Interaction with WWOX.|Interaction with HRMT1L2. P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.V73fs*76(2)|p.R72H(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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) CAGGGGCCACGGGGGGAGCAG 0.602 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 138 --- --- --- --- NA NA NA NA NA DDX5 1655 broad.mit.edu 37 17 62499955 62499958 + Frame_Shift_Del DEL TGAT TGAT - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 TGAT TGAT - - TGAT TGAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr17:62499955_62499958delTGAT uc002jek.2 - 5 717_720 c.470_473delATCA c.(469-474)AATCATfs p.N157fs DDX5_uc010deh.2_Frame_Shift_Del_p.N157fs|DDX5_uc002jej.2_Frame_Shift_Del_p.N52fs|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 157_158 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GAATGGCTGATGATTGATGTGGAC 0.328 NSCLC(22;406 813 4871 19580 40307) NA T ETV4 prostate 16 118 --- --- --- --- NA NA NA NA NA REG3A 5068 broad.mit.edu 37 2 79385513 79385513 + Frame_Shift_Del DEL A A - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:79385513delA uc002sod.1 - 3 527 c.272delT c.(271-273)CTGfs p.L91fs REG3A_uc002soe.1_Frame_Shift_Del_p.L91fs|REG3A_uc002sof.1_Frame_Shift_Del_p.L91fs NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 91 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GCTCTTCACCAGGGAGGACAC 0.552 NA 11 58 --- --- --- --- NA NA NA NA NA FAM168B 130074 broad.mit.edu 37 2 131813266 131813266 + Frame_Shift_Del DEL A A - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:131813266delA uc002tsd.2 - 4 386 c.157delT c.(157-159)TACfs p.Y53fs NM_001009993 NP_001009993 A1KXE4 F168B_HUMAN hypothetical protein LOC130074 53 0 CCAGGAGTGTAACCTGGAACA 0.622 NA 10 28 --- --- --- --- NA NA NA NA NA LRP1B 53353 broad.mit.edu 37 2 140997093 140997094 + Frame_Shift_Ins INS - - A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:140997093_140997094insA uc002tvj.1 - 88 14304_14305 c.13332_13333insT c.(13330-13335)ATTGCCfs p.I4444fs NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4444_4445 Helical; (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAATGATGGCAATGCTTCCTG 0.287 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 13 46 --- --- --- --- NA NA NA NA NA LRP1B 53353 broad.mit.edu 37 2 141806572 141806573 + Frame_Shift_Del DEL TC TC - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:141806572_141806573delTC uc002tvj.1 - 11 2743_2744 c.1771_1772delGA c.(1771-1773)GAAfs p.E591fs LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 591 Extracellular (Potential).|LDL-receptor class B 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGGATGGTTTCTCTCTCTGTG 0.436 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 14 151 --- --- --- --- NA NA NA NA NA ZEB2 9839 broad.mit.edu 37 2 145156965 145156966 + Frame_Shift_Ins INS - - A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:145156965_145156966insA uc002tvu.2 - 8 2268_2269 c.1788_1789insT c.(1786-1791)TTGCATfs p.L596fs ZEB2_uc002tvv.2_Frame_Shift_Ins_p.L590fs|ZEB2_uc010zbm.1_Frame_Shift_Ins_p.L567fs|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Frame_Shift_Ins_p.L625fs NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 596_597 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TCATGCTGATGCAAAGGGATGG 0.426 Melanoma(33;1235 1264 5755 16332) NA 7 158 --- --- --- --- NA NA NA NA NA GALNT13 114805 broad.mit.edu 37 2 154801049 154801049 + Frame_Shift_Del DEL T T - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:154801049delT uc002tyr.3 + 3 606 c.39delT c.(37-39)ACTfs p.T13fs GALNT13_uc002tyt.3_Frame_Shift_Del_p.T13fs NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 13 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TTCTAGCCACTTCGCTGATGT 0.408 NA 26 263 --- --- --- --- NA NA NA NA NA CPS1 1373 broad.mit.edu 37 2 211466964 211466964 + Frame_Shift_Del DEL C C - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr2:211466964delC uc002vee.3 + 16 1878 c.1746delC c.(1744-1746)TACfs p.Y582fs CPS1_uc010fur.2_Frame_Shift_Del_p.Y588fs|CPS1_uc010fus.2_Frame_Shift_Del_p.Y131fs NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 582 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCATTGGCTACCCAGTGATGA 0.488 NA 9 77 --- --- --- --- NA NA NA NA NA SETD2 29072 broad.mit.edu 37 3 47164413 47164414 + Frame_Shift_Ins INS - - C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr3:47164413_47164414insC uc003cqs.2 - 3 1765_1766 c.1712_1713insG c.(1711-1713)AATfs p.N571fs SETD2_uc003cqv.2_Frame_Shift_Ins_p.N560fs NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AACAGAAAGAATTTTTAAATTT 0.327 NA N|F|S|Mis clear cell renal carcinoma 21 153 --- --- --- --- NA NA NA NA NA SGTB 54557 broad.mit.edu 37 5 65008852 65008852 + Frame_Shift_Del DEL G G - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr5:65008852delG uc003jud.2 - 3 360 c.140delC c.(139-141)CCAfs p.P47fs NM_019072 NP_061945 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat 47 TPR 1. binding 0 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) TGTATCTTCTGGGCTGATCTT 0.299 NA 22 153 --- --- --- --- NA NA NA NA NA KDM1B 221656 broad.mit.edu 37 6 18222173 18222173 + Frame_Shift_Del DEL G G - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr6:18222173delG uc003nco.1 + 15 1885 c.1810delG c.(1810-1812)GGGfs p.G604fs KDM1B_uc003ncn.1_Frame_Shift_Del_p.G575fs|KDM1B_uc003ncp.1_Frame_Shift_Del_p.G160fs|KDM1B_uc003ncq.1_Frame_Shift_Del_p.R158fs NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 807 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 AACTGTTACAGGGGCATATTT 0.393 NA 28 218 --- --- --- --- NA NA NA NA NA HIP1 3092 broad.mit.edu 37 7 75228558 75228559 + Frame_Shift_Ins INS - - T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:75228558_75228559insT uc003uds.1 - 2 168_169 c.127_128insA c.(127-129)AGCfs p.S43fs NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 43 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 CTTATTGATGCTGACAGTCTGA 0.505 NA T PDGFRB CMML 7 141 --- --- --- --- NA NA NA NA NA SAMD9 54809 broad.mit.edu 37 7 92731758 92731759 + Frame_Shift_Ins INS - - G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:92731758_92731759insG uc003umf.2 - 3 3908_3909 c.3652_3653insC c.(3652-3654)GATfs p.D1218fs SAMD9_uc003umg.2_Frame_Shift_Ins_p.D1218fs NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1218 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ATTTTTATTATCAAAAAAAGGA 0.337 NA 16 138 --- --- --- --- NA NA NA NA NA NUB1 51667 broad.mit.edu 37 7 151064199 151064199 + Frame_Shift_Del DEL G G - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr7:151064199delG uc003wjx.2 + 9 1052 c.1047delG c.(1045-1047)CTGfs p.L349fs NUB1_uc003wjw.2_Frame_Shift_Del_p.L325fs|NUB1_uc010lqc.2_RNA|uc003wjz.1_RNA NM_016118 NP_057202 Q9Y5A7 NUB1_HUMAN NEDD8 ultimate buster-1 325 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding 0 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) ATCAGAGACTGGTCCACATAA 0.378 NA 7 74 --- --- --- --- NA NA NA NA NA PKHD1L1 93035 broad.mit.edu 37 8 110445422 110445424 + In_Frame_Del DEL GTT GTT - TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 GTT GTT - - GTT GTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 86ef12c0-d5fc-4852-9960-593366e717b4 9054c3ce-7029-46bc-933e-18046c1bba73 g.chr8:110445422_110445424delGTT uc003yne.2 + 28 3421_3423 c.3317_3319delGTT c.(3316-3321)GGTTGT>GGT p.C1107del NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1107 Extracellular (Potential).|IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGACCAGTAGGTTGTTCTCTTCT 0.369 NA HNSCC(38;0.096) 22 417 --- --- --- --- NA NA NA NA NA