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 B3GALT6 126792 broad.mit.edu 37 1 1168139 1168139 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:1168139G>A uc001adk.2 + 1 511 c.481G>A c.(481-483)GCG>ACG p.A161T SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank NM_080605 NP_542172 Q96L58 B3GT6_HUMAN beta-1,3-galactosyltransferase 6 161 Lumenal (Potential). glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGACTCCTTCGCGCGGCTGGA 0.572 NA 4 32 0 0 0.000602 0 0 C1orf93 127281 broad.mit.edu 37 1 2519200 2519200 + Nonsense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:2519200A>T uc001aju.1 + 3 365 c.289A>T c.(289-291)AAG>TAG p.K97* C1orf93_uc001ajw.1_Nonsense_Mutation_p.K97*|C1orf93_uc001ajv.1_Nonsense_Mutation_p.K97*|C1orf93_uc010nzd.1_Nonsense_Mutation_p.K97*|C1orf93_uc010nze.1_Nonsense_Mutation_p.K97*|C1orf93_uc010nzf.1_Nonsense_Mutation_p.K97*|C1orf93_uc001ajx.1_5'UTR NM_152371 NP_689584 Q8TBF2 PGFS_HUMAN hypothetical protein LOC127281 97 prostaglandin biosynthetic process cytosol oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor central_nervous_system(1) 1 all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) GGATGAGAGCAAGCAGCTTTA 0.632 NA 6 8 0 0 0.001984 0 0 MMEL1 79258 broad.mit.edu 37 1 2526778 2526778 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:2526778C>A uc001ajy.2 - 16 1735 c.1521G>T c.(1519-1521)CAG>CAT p.Q507H MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 507 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGTGCCCGATCTGCTCCCGGA 0.652 NA 8 45 1.26484e-09 1.49854e-09 0.00308 1 0 ESPN 83715 broad.mit.edu 37 1 6504661 6504661 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:6504661A>T uc001amy.2 + 6 1279 c.1111A>T c.(1111-1113)AGC>TGC p.S371C NM_031475 NP_113663 B1AK53 ESPN_HUMAN espin 371 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding 0 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) CTTTGACCTCAGCTCGCCTAC 0.612 NA 60 64 0 0 0.00361 0 0 TAS1R1 80835 broad.mit.edu 37 1 6631174 6631174 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:6631174C>T uc001ant.2 + 2 397 c.397C>T c.(397-399)CTT>TTT p.L133F TAS1R1_uc001anu.2_Missense_Mutation_p.L133F|TAS1R1_uc001anv.2_Missense_Mutation_p.L133F|TAS1R1_uc001anw.2_Missense_Mutation_p.L133F NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 133 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CCAAGGAGACCTTCTCCACTA 0.582 NA 36 140 0 0 0.003755 0 0 H6PD 9563 broad.mit.edu 37 1 9324171 9324171 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:9324171C>T uc001apt.2 + 5 1892 c.1619C>T c.(1618-1620)CCC>CTC p.P540L NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 540 Linker. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GCCCCAATGCCCAGTGACTTC 0.622 NA 13 71 0 0 0.001368 0 0 UBE4B 10277 broad.mit.edu 37 1 10179590 10179590 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:10179590T>C uc001aqs.3 + 9 2071 c.1358T>C c.(1357-1359)GTC>GCC p.V453A UBE4B_uc001aqr.3_Missense_Mutation_p.V324A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 453 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CAGCCAGCAGTCAGCCAGCTT 0.463 NA 6 91 0 0 0.001984 0 0 PGD 5226 broad.mit.edu 37 1 10478942 10478942 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:10478942T>C uc001arc.2 + 11 1259 c.1169T>C c.(1168-1170)CTA>CCA p.L390P PGD_uc001ard.2_Missense_Mutation_p.L310P|PGD_uc010oak.1_Missense_Mutation_p.L368P|PGD_uc010oal.1_Missense_Mutation_p.L377P NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 390 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CAGAACCTCCTACTGGACGAC 0.448 NA 11 138 0 0 0.008291 0 0 MTOR 2475 broad.mit.edu 37 1 11291373 11291373 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:11291373T>G uc001asd.2 - 17 2754 c.2633A>C c.(2632-2634)CAG>CCG p.Q878P NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 878 HEAT 3. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GCGTGTACCCTGGTTCTGCTC 0.502 NA 17 312 0 0 0.007413 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561464 11561464 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:11561464G>A uc001ash.3 + 2 553 c.415G>A c.(415-417)GAT>AAT p.D139N PTCHD2_uc001asi.1_Missense_Mutation_p.D139N NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 139 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GAACCGGCGCGATTTGGCCGA 0.632 NA 10 36 0 0 0.006214 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561954 11561954 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:11561954A>C uc001ash.3 + 2 1043 c.905A>C c.(904-906)GAG>GCG p.E302A PTCHD2_uc001asi.1_Missense_Mutation_p.E302A NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 302 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CATGAGATCGAGCGCAAGATC 0.637 NA 5 32 0 0 0.000602 0 0 VPS13D 55187 broad.mit.edu 37 1 12368591 12368591 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:12368591T>G uc001atv.2 + 27 6684 c.6543T>G c.(6541-6543)GAT>GAG p.D2181E VPS13D_uc001atw.2_Missense_Mutation_p.D2181E|VPS13D_uc001atx.2_Missense_Mutation_p.D1369E|VPS13D_uc001aty.1_5'Flank NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2181 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACCAGAGGATAGTAGTGGAG 0.498 NA 30 148 0 0 0.002096 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921200 12921200 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:12921200C>A uc001aum.1 + 4 1078 c.991C>A c.(991-993)CTG>ATG p.L331M NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 331 LRR 1. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CAGCTACGTGCTGCTGTTCCG 0.498 NA 11 181 3.86212e-05 4.16694e-05 0.008291 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12921234 12921234 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:12921234C>A uc001aum.1 + 4 1112 c.1025C>A c.(1024-1026)GCT>GAT p.A342D NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 342 LRR 1. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCCCTAGGAGCTCTGCTAGAG 0.542 NA 138 71 7.33161e-80 9.63096e-80 0.00361 1 0 HTR6 3362 broad.mit.edu 37 1 19992715 19992715 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:19992715G>A uc001bcl.2 + 1 936 c.469G>A c.(469-471)GCC>ACC p.A157T NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 157 Helical; Name=4; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CGCCGCTCTCGCCTCCTTCCT 0.716 Esophageal Squamous(168;1879 2619 6848 21062) NA 8 55 0 0 0.006214 0 0 MUL1 79594 broad.mit.edu 37 1 20827840 20827840 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:20827840G>A uc001bdi.3 - 4 559 c.402C>T c.(400-402)GGC>GGT p.G134G NM_024544 NP_078820 Q969V5 MUL1_HUMAN mitochondrial ubiquitin ligase activator of NFKB 134 Mitochondrial intermembrane (Potential). activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CCACATCCACGCCATCCTCGT 0.507 NA 19 94 0 0 0.006122 0 0 KIF17 57576 broad.mit.edu 37 1 20998460 20998460 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:20998460G>T uc001bdr.3 - 12 2811 c.2693C>A c.(2692-2694)CCC>CAC p.P898H KIF17_uc001bdp.3_Missense_Mutation_p.P176H|KIF17_uc001bdq.3_Missense_Mutation_p.P176H|KIF17_uc009vpx.2_Missense_Mutation_p.P268H|KIF17_uc001bds.3_Missense_Mutation_p.P898H NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 898 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGTGATGACGGGATGTGGGAT 0.577 NA 16 85 3.45872e-05 3.75122e-05 0.004007 1 0 EIF4G3 8672 broad.mit.edu 37 1 21268372 21268372 + Silent SNP C C A rs150884106 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:21268372C>A uc001bec.2 - 9 1363 c.1107G>T c.(1105-1107)ACG>ACT p.T369T EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Silent_p.T368T|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Silent_p.T369T|EIF4G3_uc001bef.2_Silent_p.T368T|EIF4G3_uc001bee.2_Silent_p.T375T|EIF4G3_uc001beg.2_Silent_p.T368T|EIF4G3_uc010odk.1_Silent_p.T369T|EIF4G3_uc001beh.2_Silent_p.T380T NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 369 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CAATGCTCTCCGTGGCTGATA 0.383 NA 31 126 1.30897e-18 1.66669e-18 0.009535 1 0 C1QA 712 broad.mit.edu 37 1 22965741 22965741 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:22965741C>A uc001bfy.2 + 3 664 c.579C>A c.(577-579)ACC>ACA p.T193T C1QA_uc001bfz.2_Silent_p.T193T NM_015991 NP_057075 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 193 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GTGACACCACCAACAAGGGGC 0.582 NA 27 59 6.12954e-19 7.82869e-19 0.004656 1 0 SRRM1 10250 broad.mit.edu 37 1 24979060 24979060 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:24979060G>T uc001bjm.2 + 7 1085 c.861G>T c.(859-861)CGG>CGT p.R287R SRRM1_uc010oel.1_Silent_p.R287R|SRRM1_uc009vrh.1_Silent_p.R248R|SRRM1_uc009vri.1_Silent_p.R204R|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 287 Pro-rich.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CAAGATCCCGGACGCGGTCCC 0.488 Ovarian(68;897 1494 3282 17478) NA 7 22 0.00307968 0.0032006 0.00308 1 0 SLC9A1 6548 broad.mit.edu 37 1 27480569 27480569 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:27480569C>T uc001bnm.2 - 1 883 c.257G>A c.(256-258)CGC>CAC p.R86H SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.R86H NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 86 Extracellular (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) AAAGGCCTTGCGCGGCTTCAT 0.587 NA 22 67 0 0 0.002299 0 0 TRNAU1AP 54952 broad.mit.edu 37 1 28880162 28880162 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:28880162A>G uc001bqi.2 + 2 132 c.38A>G c.(37-39)TAC>TGC p.Y13C TRNAU1AP_uc001bqh.2_5'UTR|TRNAU1AP_uc010ofw.1_5'UTR NM_017846 NP_060316 Q9NX07 TSAP1_HUMAN tRNA selenocysteine associated protein 1 13 RRM 1. selenocysteine incorporation cytoplasm|nucleus nucleotide binding|RNA binding 0 CTGGAACCCTACATGGATGAG 0.587 NA 6 30 0 0 0.001984 0 0 SERINC2 347735 broad.mit.edu 37 1 31899543 31899543 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:31899543C>T uc010ogh.1 + 6 866 c.665C>T c.(664-666)GCG>GTG p.A222V SERINC2_uc010ogg.1_Missense_Mutation_p.A219V|SERINC2_uc001bst.2_Missense_Mutation_p.A218V|SERINC2_uc001bsu.2_Missense_Mutation_p.A163V|SERINC2_uc001bsv.2_Missense_Mutation_p.A163V NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 218 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) CTGTCGATCGCGGCCGTGGCG 0.597 NA 31 80 0 0 0.009535 0 0 COL16A1 1307 broad.mit.edu 37 1 32120447 32120447 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:32120447T>G uc001btk.1 - 68 4668 c.4303A>C c.(4303-4305)AAT>CAT p.N1435H COL16A1_uc001bti.1_Missense_Mutation_p.N49H|COL16A1_uc001btj.1_Missense_Mutation_p.N1233H NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 1435 Nonhelical region 2 (NC2). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TCATCATAATTCACCATGTCT 0.453 Colon(143;498 1786 21362 25193 36625) NA 29 134 0 0 0.00632 0 0 NDUFS5 4725 broad.mit.edu 37 1 39494495 39494495 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:39494495C>G uc001ccx.2 + 2 170 c.99C>G c.(97-99)TGC>TGG p.C33W NDUFS5_uc001ccy.2_Missense_Mutation_p.C33W NM_004552 NP_004543 O43920 NDUS5_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 5, 33 C-X9-C motif 1. mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.93e-18) NADH(DB00157) CTGGTCGATGCCATGCTTTTG 0.438 NA 20 53 0 0 0.008871 0 0 MED8 112950 broad.mit.edu 37 1 43851674 43851674 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:43851674T>C uc001cjg.3 - 6 765 c.717A>G c.(715-717)GTA>GTG p.V239V MED8_uc001cje.1_Silent_p.V239V|MED8_uc001cjf.3_Silent_p.V150V NM_201542 NP_963836 Q96G25 MED8_HUMAN mediator complex subunit 8 isoform 1 239 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGCCATTTGTACCCCACTGA 0.562 NA 56 203 0 0 0.00361 0 0 PTPRF 5792 broad.mit.edu 37 1 44071069 44071069 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:44071069G>A uc001cjr.2 + 18 3684 c.3344G>A c.(3343-3345)CGC>CAC p.R1115H PTPRF_uc001cjs.2_Missense_Mutation_p.R1106H|PTPRF_uc001cju.2_Missense_Mutation_p.R493H|PTPRF_uc009vwt.2_Missense_Mutation_p.R675H|PTPRF_uc001cjv.2_Missense_Mutation_p.R575H|PTPRF_uc001cjw.2_Missense_Mutation_p.R341H NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1115 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGGACGGCCGCTTCGATCTC 0.662 NA 22 27 0 0 0.004656 0 0 LRRC41 10489 broad.mit.edu 37 1 46752036 46752036 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:46752036G>T uc001cpn.2 - 4 537 c.493C>A c.(493-495)CGA>AGA p.R165R LRRC41_uc010omb.1_Silent_p.R165R|LRRC41_uc001cpo.1_Silent_p.R165R NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 165 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) GTGAGCTGTCGGACATGGCGG 0.567 NA 8 47 5.4927e-09 6.42192e-09 0.004482 1 0 TMEM59 9528 broad.mit.edu 37 1 54497896 54497896 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:54497896C>G uc001cwp.2 - 8 1149 c.899G>C c.(898-900)AGA>ACA p.R300T TMEM59_uc001cwn.2_Missense_Mutation_p.R164T|TMEM59_uc001cwo.2_Missense_Mutation_p.R163T|TMEM59_uc001cwq.2_Missense_Mutation_p.R301T|TMEM59_uc001cwr.2_Missense_Mutation_p.R233T NM_004872 NP_004863 Q9BXS4 TMM59_HUMAN thymic dendritic cell-derived factor 1 300 Cytoplasmic (Potential). Golgi membrane|integral to membrane 0 AGTTTTAGATCTAACAACCAC 0.348 NA 10 21 0 0 0.006214 0 0 USP1 7398 broad.mit.edu 37 1 62907238 62907238 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:62907238A>G uc001daj.1 + 3 578 c.250A>G c.(250-252)AAT>GAT p.N84D USP1_uc001dak.1_Missense_Mutation_p.N84D|USP1_uc001dal.1_Missense_Mutation_p.N84D NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 84 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) TGTGGGACTGAATAATCTCGG 0.348 Ovarian(122;1846 2315 3982 19504) NA 11 41 0 0 0.000978 0 0 IL23R 149233 broad.mit.edu 37 1 67648610 67648610 + Nonsense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:67648610C>A uc001ddo.2 + 4 544 c.459C>A c.(457-459)TAC>TAA p.Y153* IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Nonsense_Mutation_p.Y110*|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_Intron|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Nonsense_Mutation_p.Y12*|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Nonsense_Mutation_p.Y12*|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Nonsense_Mutation_p.Y12*|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_5'UTR|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_5'UTR|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Nonsense_Mutation_p.Y12*|IL23R_uc010oqc.1_5'UTR|IL23R_uc010oqd.1_5'UTR|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_5'UTR NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 153 Extracellular (Potential).|Fibronectin type-III 1. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 AGCTCACCTACATAGACACAA 0.473 NA 19 70 5.3912e-06 5.9351e-06 0.006122 1 0 SFRS11 9295 broad.mit.edu 37 1 70715732 70715732 + Splice_Site SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:70715732T>C uc001des.2 + 11 1242 c.1118_splice c.e11+2 p.R373_splice SFRS11_uc001det.2_Splice_Site_p.R373_splice|SFRS11_uc001deu.2_Splice_Site_p.R380_splice|SFRS11_uc001dev.2_Splice_Site_p.R183_splice|SFRS11_uc001dew.2_Splice_Site_p.R313_splice NM_004768 NP_004759 Q05519 SRS11_HUMAN splicing factor, arginine/serine-rich 11 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 CCCTAGGAGGTAAGAATGTTA 0.373 NA 3 25 0 0 0.004672 0 0 LPHN2 23266 broad.mit.edu 37 1 82409430 82409430 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:82409430T>C uc001dit.3 + 6 1356 c.1175T>C c.(1174-1176)TTT>TCT p.F392S LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F392S|LPHN2_uc001div.2_Missense_Mutation_p.F392S|LPHN2_uc009wcd.2_Missense_Mutation_p.F392S NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 392 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCTCTGGAGTTTGGTCCACCT 0.358 NA 19 57 0 0 0.001882 0 0 GBP6 163351 broad.mit.edu 37 1 89844084 89844084 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:89844084A>T uc001dnf.2 + 5 811 c.537A>T c.(535-537)ACA>ACT p.T179T GBP6_uc010ost.1_Silent_p.T49T NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 179 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TTCTTTGGACAGTACGGGATT 0.458 NA 28 56 0 0 0.007291 0 0 MTF2 22823 broad.mit.edu 37 1 93602423 93602423 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:93602423C>T uc009wdj.2 + 15 1913 c.1621C>T c.(1621-1623)CAG>TAG p.Q541* MTF2_uc010oth.1_Nonsense_Mutation_p.Q439*|MTF2_uc009wdk.2_Nonsense_Mutation_p.Q484*|MTF2_uc001dpi.3_Nonsense_Mutation_p.Q268*|MTF2_uc010oti.1_Nonsense_Mutation_p.Q439*|MTF2_uc001dpj.3_Nonsense_Mutation_p.Q439*|MTF2_uc001dpl.3_Nonsense_Mutation_p.Q439*|MTF2_uc001dpm.3_Nonsense_Mutation_p.Q210* NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 541 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) CTTAGCAGATCAGGAGTTACA 0.388 NA 18 67 0 0 0.007413 0 0 LPPR4 9890 broad.mit.edu 37 1 99772192 99772192 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:99772192G>A uc001dse.2 + 7 2024 c.1918G>A c.(1918-1920)GAA>AAA p.E640K LPPR4_uc010oue.1_Missense_Mutation_p.E582K NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 640 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCCGTCCACTGAAGGTGAAGG 0.537 NA 17 38 0 0 0.00499 0 0 HIAT1 64645 broad.mit.edu 37 1 100542725 100542725 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:100542725T>A uc001dst.2 + 9 896 c.896T>A c.(895-897)ATA>AAA p.I299K NM_033055 NP_149044 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 299 Helical; Name=8; (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity 0 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) TTTCAGACCATAGTCTTGAGT 0.303 NA 7 21 0 0 0.006214 0 0 COL11A1 1301 broad.mit.edu 37 1 103385907 103385907 + Missense_Mutation SNP G G T rs151195708 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:103385907G>T uc001dul.2 - 49 4040 c.3722C>A c.(3721-3723)CCC>CAC p.P1241H COL11A1_uc001duk.2_Missense_Mutation_p.P437H|COL11A1_uc001dum.2_Missense_Mutation_p.P1253H|COL11A1_uc001dun.2_Missense_Mutation_p.P1202H|COL11A1_uc009weh.2_Missense_Mutation_p.P1125H NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1241 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) AGACCCTGGGGGTCCTTGTGG 0.353 NA 30 102 5.60225e-13 6.88656e-13 0.009535 1 0 SORT1 6272 broad.mit.edu 37 1 109884687 109884687 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:109884687T>C uc001dxm.1 - 9 1106 c.1057A>G c.(1057-1059)ATT>GTT p.I353V SORT1_uc010ovi.1_Missense_Mutation_p.I216V NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 353 Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GCTGCCAGAATAGAATAGAAC 0.453 NA 38 105 0 0 0.004878 0 0 GSTM2 2946 broad.mit.edu 37 1 110213909 110213909 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:110213909G>A uc001dyi.2 + 6 675 c.361G>A c.(361-363)GAG>AAG p.E121K GSTM2_uc001dyj.2_Missense_Mutation_p.E121K|GSTM2_uc010ovt.1_Missense_Mutation_p.E121K|GSTM2_uc009wfk.2_RNA NM_000848 NP_000839 P28161 GSTM2_HUMAN glutathione S-transferase mu 2 isoform 1 121 GST C-terminal. glutathione metabolic process|xenobiotic catabolic process cytoplasm glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) TCTGCCTCAGGAGAAACTGAA 0.547 NA 9 67 0 0 0.008291 0 0 GSTM1 2944 broad.mit.edu 37 1 110231320 110231320 + Nonsense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:110231320G>A uc001dyk.2 + 3 216 c.138G>A c.(136-138)TGG>TGA p.W46* GSTM1_uc001dyl.2_Nonsense_Mutation_p.W46* NM_000561 NP_000552 P09488 GSTM1_HUMAN glutathione S-transferase mu 1 isoform 1 46 GST N-terminal.|Glutathione binding. xenobiotic metabolic process cytosol glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) GAAGCCAGTGGCTGAATGAAA 0.562 NA Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 20 16 0 0 0.009535 0 0 PHTF1 10745 broad.mit.edu 37 1 114249340 114249340 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:114249340T>A uc009wgp.1 - 11 1726 c.1274A>T c.(1273-1275)CAT>CTT p.H425L PHTF1_uc001edn.2_Missense_Mutation_p.H425L|PHTF1_uc001edm.2_Missense_Mutation_p.H182L|PHTF1_uc001edo.1_Missense_Mutation_p.H182L NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 425 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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) CCAGAATAAATGATTCTGAGA 0.383 NA 12 54 0 0 0.000978 0 0 NGF 4803 broad.mit.edu 37 1 115829316 115829316 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:115829316T>C uc001efu.1 - 3 270 c.101A>G c.(100-102)CAA>CGA p.Q34R NM_002506 NP_002497 P01138 NGF_HUMAN nerve growth factor, beta polypeptide precursor 34 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding upper_aerodigestive_tract(2) 2 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CCAGTGGGCTTGGGGGATGGT 0.592 NA 15 65 0 0 0.003163 0 0 TTF2 8458 broad.mit.edu 37 1 117622224 117622224 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:117622224C>A uc001egy.2 + 9 1756 c.1736C>A c.(1735-1737)GCT>GAT p.A579D TTF2_uc001egx.1_Missense_Mutation_p.A579D NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 579 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CAGGCATTGGCTTGGTTACTA 0.368 NA 18 43 2.37509e-13 2.94578e-13 0.010504 1 0 SPAG17 200162 broad.mit.edu 37 1 118548157 118548157 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:118548157T>C uc001ehk.2 - 32 4724 c.4656A>G c.(4654-4656)TCA>TCG p.S1552S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1552 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TATTACTGCTTGACTCATGGC 0.418 NA 5 57 0 0 0.000602 0 0 TBX15 6913 broad.mit.edu 37 1 119427471 119427471 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:119427471T>G uc001ehl.1 - 8 1690 c.1375A>C c.(1375-1377)AGC>CGC p.S459R TBX15_uc009whj.1_Missense_Mutation_p.S283R NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 565 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) ATGTGCATGCTGTGCTCCATC 0.552 NA 26 77 0 0 0.005443 0 0 NOTCH2 4853 broad.mit.edu 37 1 120480031 120480031 + Silent SNP C C T rs140630687 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:120480031C>T uc001eik.2 - 21 3652 c.3396G>A c.(3394-3396)ACG>ACA p.T1132T NOTCH2_uc001eil.2_Silent_p.T1132T NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1132 EGF-like 29.|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GACAGTAATGCGTGTTGCCAG 0.542 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 16 71 0 0 0.003163 0 0 TXNIP 10628 broad.mit.edu 37 1 145440510 145440510 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:145440510T>C uc001enn.3 + 5 1157 c.816T>C c.(814-816)GTT>GTC p.V272V NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V217V NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 272 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCCTTCGAGTTGAATATTCCT 0.483 NA 29 156 0 0 0.002096 0 0 C1orf51 148523 broad.mit.edu 37 1 150255915 150255915 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:150255915C>T uc001euh.2 + 2 374 c.238C>T c.(238-240)CCG>TCG p.P80S C1orf51_uc001eui.2_5'UTR|C1orf51_uc001euj.2_Missense_Mutation_p.P80S NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 80 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ACCATCTCATCCGAAACAGCG 0.562 NA 27 255 0 0 0.002096 0 0 ANXA9 8416 broad.mit.edu 37 1 150958830 150958830 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:150958830T>C uc001ewa.2 + 8 961 c.491T>C c.(490-492)GTG>GCG p.V164A NM_003568 NP_003559 O76027 ANXA9_HUMAN annexin A9 164 Annexin 2. cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity 0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTGGAGGCTGTGGATGACATC 0.562 NA 7 46 0 0 0.00308 0 0 CELF3 11189 broad.mit.edu 37 1 151680015 151680015 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:151680015C>G uc001eys.1 - 7 1534 c.740G>C c.(739-741)GGC>GCC p.G247A CELF3_uc010pdh.1_Missense_Mutation_p.G55A|CELF3_uc001eyr.2_Missense_Mutation_p.G246A|CELF3_uc009wmy.2_Missense_Mutation_p.G247A|CELF3_uc009wmx.1_Missense_Mutation_p.G247A|CELF3_uc001eyt.2_Missense_Mutation_p.G170A|C1orf230_uc001eyu.2_5'Flank NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 247 nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 GGCGATGAGGCCATTGGCATT 0.647 NA 5 23 0 0 0.000602 0 0 LINGO4 339398 broad.mit.edu 37 1 151774831 151774831 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:151774831C>T uc001ezf.1 - 2 540 c.350G>A c.(349-351)GGC>GAC p.G117D NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 117 LRR 3.|Extracellular (Potential). integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GAGCCGATTGCCCTGCAGCCT 0.582 NA 20 90 0 0 0.008871 0 0 FLG2 388698 broad.mit.edu 37 1 152328032 152328032 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:152328032C>T uc001ezw.3 - 3 2303 c.2230G>A c.(2230-2232)GGC>AGC p.G744S uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 744 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCAAAGCCAGAGGACTGA 0.507 NA 83 534 0 0 0.00361 0 0 NPR1 4881 broad.mit.edu 37 1 153655008 153655008 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:153655008C>T uc001fcs.3 + 5 1627 c.1206C>T c.(1204-1206)GGC>GGT p.G402G NPR1_uc010pdz.1_Silent_p.G148G|NPR1_uc010pea.1_5'Flank NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 402 Extracellular (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) ATAGCAGTGGCGATCGGGAAA 0.488 Pancreas(141;1349 1870 15144 15830 40702) NA 8 76 0 0 0.004482 0 0 ADAR 103 broad.mit.edu 37 1 154557298 154557298 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:154557298T>C uc001ffh.2 - 15 3865 c.3665A>G c.(3664-3666)TAT>TGT p.Y1222C ADAR_uc001ffj.2_Missense_Mutation_p.Y1177C|ADAR_uc001ffi.2_Missense_Mutation_p.Y1196C|ADAR_uc001ffk.2_Missense_Mutation_p.Y927C NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 1222 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TGGGCAGAGATAAAAGTTCTT 0.483 NA 16 177 0 0 0.007413 0 0 GBA 2629 broad.mit.edu 37 1 155206228 155206228 + Silent SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:155206228A>C uc001fjh.2 - 8 1182 c.1032T>G c.(1030-1032)GTT>GTG p.V344V RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.V231V|GBA_uc010pfx.1_Silent_p.V295V|GBA_uc001fji.2_Silent_p.V344V|GBA_uc001fjj.2_Silent_p.V344V|GBA_uc001fjk.2_Silent_p.V344V|GBA_uc001fjl.2_Silent_p.V344V|GBA_uc010pfy.1_Silent_p.V257V NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 344 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) CAATGCCATGAACATATTTAG 0.512 NA Gaucher_disease_type_I 5 62 0 0 0.000602 0 0 INSRR 3645 broad.mit.edu 37 1 156811294 156811294 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:156811294A>T uc010pht.1 - 21 3808 c.3554T>A c.(3553-3555)ATT>AAT p.I1185N NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1185 Cytoplasmic (Potential).|Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGGGTCACAATCTCCCAGAG 0.612 NA 16 122 0 0 0.004007 0 0 INSRR 3645 broad.mit.edu 37 1 156823913 156823913 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:156823913C>T uc010pht.1 - 2 522 c.268G>A c.(268-270)GGA>AGA p.G90R NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.G90R NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 90 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCTCCAGTCCGTAGACACGG 0.617 NA 24 48 0 0 0.00333 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156914894 156914894 + Missense_Mutation SNP G G A rs140673049 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:156914894G>A uc001fqo.2 - 29 3828 c.2788C>T c.(2788-2790)CGC>TGC p.R930C ARHGEF11_uc010phu.1_Missense_Mutation_p.R346C|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R970C NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 930 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AAACGGTGGCGGTTCTCTGTT 0.597 NA 41 208 0 0 0.007835 0 0 KIRREL 55243 broad.mit.edu 37 1 158064144 158064144 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:158064144C>T uc001frn.3 + 14 2165 c.1761C>T c.(1759-1761)TGC>TGT p.C587C KIRREL_uc010pib.1_Silent_p.C487C|KIRREL_uc009wsq.2_Silent_p.C423C|KIRREL_uc001fro.3_Silent_p.C401C|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 587 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) ACCTGCGCTGCGACACCATCG 0.602 NA 3 24 0 0 0.004672 0 0 CD1E 913 broad.mit.edu 37 1 158326568 158326568 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:158326568T>C uc001fse.2 + 6 1288 c.1049T>C c.(1048-1050)ATG>ACG p.M350T CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.M260T|CD1E_uc001fsj.2_Missense_Mutation_p.M193T|CD1E_uc001fsc.2_Missense_Mutation_p.M161T|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.M106T|CD1E_uc001fsf.2_Missense_Mutation_p.M338T|CD1E_uc001fry.2_Missense_Mutation_p.M283T|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Missense_Mutation_p.M149T|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Missense_Mutation_p.M251T|CD1E_uc001frz.2_Missense_Mutation_p.M248T|CD1E_uc009wsw.2_Missense_Mutation_p.W65R NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 350 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) GTCTTTCTCATGGGAGCCAAC 0.398 NA 26 140 0 0 0.004656 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576744 158576744 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:158576744T>C uc010pio.1 + 1 516 c.516T>C c.(514-516)CAT>CAC p.H172H NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) GCAGCTCCCATGAAATCCAGC 0.502 NA 8 163 0 0 0.00308 0 0 SPTA1 6708 broad.mit.edu 37 1 158584046 158584046 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:158584046T>C uc001fst.1 - 49 7038 c.6839A>G c.(6838-6840)TAT>TGT p.Y2280C NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2280 EF-hand 1. 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) TACTCACTTATAGATTGTGCT 0.333 NA 6 85 0 0 0.001168 0 0 SPTA1 6708 broad.mit.edu 37 1 158627363 158627363 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:158627363C>T uc001fst.1 - 19 2908 c.2709G>A c.(2707-2709)CAG>CAA p.Q903Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 903 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) CAGCCAGGTACTGCTGGAACT 0.473 NA 11 256 0 0 0.008291 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923178 159923178 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:159923178A>C uc001fus.2 - 2 429 c.312T>G c.(310-312)GAT>GAG p.D104E SLAMF9_uc009wtd.2_Missense_Mutation_p.D104E|SLAMF9_uc001fut.2_Intron NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 104 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAAGCCCTGAATCCTCCCAGC 0.502 NA 19 127 0 0 0.008871 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054197 160054197 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:160054197G>A uc001fuy.1 + 2 619 c.377G>A c.(376-378)CGC>CAC p.R126H NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 126 Extracellular (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TACGGGCACCGCGTCATCACC 0.647 NA 7 69 0 0 0.001984 0 0 OLFML2B 25903 broad.mit.edu 37 1 161954714 161954714 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:161954714C>A uc001gbu.2 - 7 1955 c.1531G>T c.(1531-1533)GGG>TGG p.G511W OLFML2B_uc001gbt.2_5'UTR|OLFML2B_uc010pkq.1_Missense_Mutation_p.G512W NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 511 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TCATTCCGCCCATATGTGTTC 0.547 NA 19 157 2.94398e-08 3.39732e-08 0.007413 1 0 NUF2 83540 broad.mit.edu 37 1 163306614 163306614 + Silent SNP G G C rs148215962 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:163306614G>C uc001gcq.1 + 6 711 c.411G>C c.(409-411)ACG>ACC p.T137T NUF2_uc001gcp.2_Silent_p.T137T|NUF2_uc001gcr.1_Silent_p.T137T|NUF2_uc009wvc.1_Silent_p.T137T NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 137 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) GCCGTGAAACGTATATGGAAT 0.313 NA 9 58 0 0 0.006214 0 0 TMCO1 54499 broad.mit.edu 37 1 165721382 165721382 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:165721382T>G uc001gdj.3 - 5 429 c.280A>C c.(280-282)ATT>CTT p.I94L TMCO1_uc001gdl.3_Missense_Mutation_p.I10L|TMCO1_uc001gdm.3_Missense_Mutation_p.I10L|TMCO1_uc001gdk.3_Missense_Mutation_p.I82L|TMCO1_uc001gdn.3_RNA NM_019026 NP_061899 Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 94 Helical; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CAAAAGCCAATAGCAAACATG 0.303 NA 6 42 0 0 0.001984 0 0 ILDR2 387597 broad.mit.edu 37 1 166890011 166890011 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:166890011C>T uc001gdx.1 - 9 1873 c.1817G>A c.(1816-1818)CGC>CAC p.R606H NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 606 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GTCGCGGCCGCGGTAGGACGG 0.677 NA 4 6 0 0 0.009096 0 0 DPT 1805 broad.mit.edu 37 1 168670267 168670267 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:168670267G>A uc001gfp.2 - 3 543 c.527C>T c.(526-528)TCT>TTT p.S176F NM_001937 NP_001928 Q07507 DERM_HUMAN dermatopontin precursor 176 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix ovary(1) 1 all_hematologic(923;0.208) TTCCACTGCAGAGAAAGTGGT 0.433 NA 37 204 0 0 0.006999 0 0 ZBTB37 84614 broad.mit.edu 37 1 173840201 173840201 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:173840201G>T uc009wwp.1 + 3 1114 c.838G>T c.(838-840)GGC>TGC p.G280C ZBTB37_uc001gjp.1_Missense_Mutation_p.G280C|ZBTB37_uc001gjq.3_Missense_Mutation_p.G280C|ZBTB37_uc001gjr.2_Missense_Mutation_p.G280C NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 isoform 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGATACCACAGGCCATGGTTC 0.463 NA 4 52 0.00909568 0.00938228 0.009096 1 0 TNN 63923 broad.mit.edu 37 1 175105027 175105027 + Nonsense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:175105027G>A uc001gkl.1 + 16 3490 c.3377G>A c.(3376-3378)TGG>TAG p.W1126* NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1126 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TTCAAGCGATGGAGGAGCTAT 0.537 NA 18 141 0 0 0.008871 0 0 ASTN1 460 broad.mit.edu 37 1 176838014 176838014 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:176838014A>G uc001glc.2 - 22 3825 c.3613T>C c.(3613-3615)TTC>CTC p.F1205L ASTN1_uc001glb.1_Missense_Mutation_p.F1205L|ASTN1_uc001gld.1_Missense_Mutation_p.F1205L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1213 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CGCCAGGTGAATTCCCCAAAA 0.478 NA 7 152 0 0 0.001984 0 0 ASTN1 460 broad.mit.edu 37 1 176915113 176915113 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:176915113T>C uc001glc.2 - 13 2410 c.2198A>G c.(2197-2199)AAC>AGC p.N733S ASTN1_uc001glb.1_Missense_Mutation_p.N733S|ASTN1_uc001gld.1_Missense_Mutation_p.N733S|ASTN1_uc009wwx.1_Missense_Mutation_p.N733S NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 741 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GGAATGGTTGTTGTAACCAAA 0.488 NA 38 158 0 0 0.004878 0 0 RASAL2 9462 broad.mit.edu 37 1 178410697 178410697 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:178410697G>T uc001glr.2 + 5 523 c.398G>T c.(397-399)AGT>ATT p.S133I RASAL2_uc001glq.2_Missense_Mutation_p.S281I NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 133 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 ACCTACTTAAGTGGAAGTAAA 0.383 NA 20 37 5.26018e-13 6.47246e-13 0.001882 1 0 FAM20B 9917 broad.mit.edu 37 1 179013194 179013194 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:179013194T>C uc001gmc.2 + 2 505 c.212T>C c.(211-213)GTG>GCG p.V71A NM_014864 NP_055679 O75063 XYLK_HUMAN hypothetical protein LOC9917 precursor 71 Lumenal (Potential). Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(3) 3 GCCCAGTGGGTGGTTCCCCGG 0.557 NA 12 83 0 0 0.001368 0 0 APOBEC4 403314 broad.mit.edu 37 1 183616967 183616967 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:183616967A>G uc001gqn.2 - 2 1222 c.950T>C c.(949-951)GTA>GCA p.V317A RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron NM_203454 NP_982279 Q8WW27 ABEC4_HUMAN apolipoprotein B 317 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 TAAGTGCCTTACGATATTCCT 0.478 NA 17 148 0 0 0.007413 0 0 HMCN1 83872 broad.mit.edu 37 1 185964206 185964206 + Silent SNP G G A rs112519612 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:185964206G>A uc001grq.1 + 24 3994 c.3765G>A c.(3763-3765)ACG>ACA p.T1255T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1255 Ig-like C2-type 9. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAGAGATAACGCTACATGTCC 0.428 NA 16 110 0 0 0.00499 0 0 HMCN1 83872 broad.mit.edu 37 1 186038865 186038865 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:186038865T>C uc001grq.1 + 51 8179 c.7950T>C c.(7948-7950)AAT>AAC p.N2650N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2650 Ig-like C2-type 24. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TAGCCACGAATGAGGCTGGAG 0.408 NA 9 44 0 0 0.008291 0 0 HMCN1 83872 broad.mit.edu 37 1 186089238 186089238 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:186089238G>C uc001grq.1 + 80 12419 c.12190G>C c.(12190-12192)GCT>CCT p.A4064P NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4064 Ig-like C2-type 39. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCAGAACCCGGCTGGTACAGC 0.448 NA 15 48 0 0 0.00245 0 0 TPR 7175 broad.mit.edu 37 1 186310226 186310226 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:186310226G>A uc001grv.2 - 29 4251 c.3954C>T c.(3952-3954)AGC>AGT p.S1318S NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1318 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GCAACATACCGCTTTTCTCAC 0.388 NA T NTRK1 papillary thyroid 18 113 0 0 0.00499 0 0 FAM5C 339479 broad.mit.edu 37 1 190129974 190129974 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:190129974G>A uc001gse.1 - 7 1240 c.1008C>T c.(1006-1008)CTC>CTT p.L336L FAM5C_uc010pot.1_Silent_p.L234L NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 336 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TAGATGTGTTGAGGAAATAAT 0.308 NA 7 141 0 0 0.001984 0 0 FAM5C 339479 broad.mit.edu 37 1 190250870 190250870 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:190250870G>A uc001gse.1 - 3 479 c.247C>T c.(247-249)CGC>TGC p.R83C FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 83 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) ACTTTCCAGCGGCCAAACTCC 0.398 NA 6 74 0 0 0.001168 0 0 ASPM 259266 broad.mit.edu 37 1 197115347 197115347 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:197115347A>G uc001gtu.2 - 1 478 c.221T>C c.(220-222)GTG>GCG p.V74A ASPM_uc001gtv.2_Missense_Mutation_p.V74A|ASPM_uc001gtw.3_5'UTR NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 74 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CACTTCTGCCACCTCCTCGTT 0.607 NA 34 239 0 0 0.004289 0 0 LHX9 56956 broad.mit.edu 37 1 197890769 197890769 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:197890769A>G uc001guk.1 + 3 1150 c.713A>G c.(712-714)GAC>GGC p.D238G LHX9_uc001gui.1_Missense_Mutation_p.D229G|LHX9_uc001guj.1_Missense_Mutation_p.D244G NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 238 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CTGGGAGTGGACATCGTCAAT 0.647 NA 11 31 0 0 0.000978 0 0 PTPRC 5788 broad.mit.edu 37 1 198677283 198677283 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:198677283A>T uc001gur.1 + 10 1100 c.920A>T c.(919-921)CAT>CTT p.H307L PTPRC_uc001gus.1_Missense_Mutation_p.H259L|PTPRC_uc001gut.1_Missense_Mutation_p.H146L|PTPRC_uc009wzf.1_Missense_Mutation_p.H195L|PTPRC_uc010ppg.1_Missense_Mutation_p.H243L NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 307 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TTTCAGTTACATGATTGTACA 0.303 NA 19 43 0 0 0.008871 0 0 KIF14 9928 broad.mit.edu 37 1 200558480 200558480 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:200558480C>A uc010ppk.1 - 18 3418 c.2979G>T c.(2977-2979)AGG>AGT p.R993S KIF14_uc010ppj.1_Missense_Mutation_p.R502S NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 993 Potential.|Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 GCATTTTTTTCCTTTGAGACT 0.313 NA 6 49 5.9392e-07 6.67422e-07 0.001168 1 0 KIF14 9928 broad.mit.edu 37 1 200558485 200558485 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:200558485G>C uc010ppk.1 - 18 3413 c.2974C>G c.(2974-2976)CAA>GAA p.Q992E KIF14_uc010ppj.1_Missense_Mutation_p.Q501E NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 992 Potential.|Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TTTTTCCTTTGAGACTCTTCT 0.313 NA 6 49 0 0 0.001168 0 0 KIF21B 23046 broad.mit.edu 37 1 200960786 200960786 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:200960786T>A uc001gvs.1 - 17 2770 c.2453A>T c.(2452-2454)GAG>GTG p.E818V KIF21B_uc001gvr.1_Missense_Mutation_p.E818V|KIF21B_uc009wzl.1_Missense_Mutation_p.E818V|KIF21B_uc010ppn.1_Missense_Mutation_p.E818V NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 818 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 TGAGCTCACCTCCTGGGTCTT 0.607 NA 13 47 0 0 0.001855 0 0 CSRP1 1465 broad.mit.edu 37 1 201454441 201454441 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:201454441C>T uc001gws.2 - 5 666 c.475G>A c.(475-477)GCA>ACA p.A159T CSRP1_uc001gwr.1_RNA|CSRP1_uc010ppr.1_Missense_Mutation_p.A153T NM_004078 NP_004069 P21291 CSRP1_HUMAN cysteine and glycine-rich protein 1 isoform 1 159 LIM zinc-binding 2. nucleus zinc ion binding ovary(1) 1 TCCTTGTCTGCCAGGGTGGTT 0.527 NA 37 152 0 0 0.002522 0 0 LGR6 59352 broad.mit.edu 37 1 202276032 202276032 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:202276032T>C uc001gxu.2 + 13 1173 c.1173T>C c.(1171-1173)GCT>GCC p.A391A LGR6_uc001gxv.2_Silent_p.A339A|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.A252A|LGR6_uc009xac.1_RNA NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 391 LRR 13.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 AAATTGGAGCTGACACCTTCA 0.637 NA 5 72 0 0 0.001168 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204425008 204425008 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:204425008C>T uc001haw.2 - 12 2398 c.1919G>A c.(1918-1920)CGC>CAC p.R640H PIK3C2B_uc010pqv.1_Missense_Mutation_p.R640H|PIK3C2B_uc001hax.1_Missense_Mutation_p.R640H|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 640 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GATGGGGATGCGGTGGGTGGC 0.612 NA 9 54 0 0 0.006214 0 0 DSTYK 25778 broad.mit.edu 37 1 205126496 205126496 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:205126496T>A uc001hbw.2 - 10 2321 c.2257A>T c.(2257-2259)ACA>TCA p.T753S DSTYK_uc001hbx.2_Missense_Mutation_p.T753S NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 753 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 TGCAAACGTGTCTCCAGGGTC 0.488 NA 25 75 0 0 0.005443 0 0 CR1 1378 broad.mit.edu 37 1 207751302 207751302 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:207751302T>C uc001hfy.2 + 21 3480 c.3340T>C c.(3340-3342)TAC>CAC p.Y1114H CR1_uc009xcl.1_Missense_Mutation_p.Y664H|CR1_uc001hfx.2_Missense_Mutation_p.Y1564H NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1114 Extracellular (Potential).|Sushi 17. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 GCCCTCCATATACTGCACCAG 0.502 NA 27 251 0 0 0.00623 0 0 LAMB3 3914 broad.mit.edu 37 1 209805972 209805972 + Missense_Mutation SNP C C T rs113063967 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:209805972C>T uc001hhg.2 - 7 1168 c.778G>A c.(778-780)GCA>ACA p.A260T LAMB3_uc009xco.2_Missense_Mutation_p.A260T|LAMB3_uc001hhh.2_Missense_Mutation_p.A260T|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.A196T NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 260 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGCTTGGGTGCGCAGCGATCA 0.657 NA 9 105 0 0 0.006214 0 0 C1orf227 149643 broad.mit.edu 37 1 213009242 213009242 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:213009242T>C uc001hjq.2 - 2 358 c.250A>G c.(250-252)ATG>GTG p.M84V NM_001024601 NP_001019772 Q537H7 CA227_HUMAN hypothetical protein LOC149643 84 0 TTTCTCTCCATGTGAGCAAGG 0.348 NA 20 108 0 0 0.007413 0 0 C1orf227 149643 broad.mit.edu 37 1 213009321 213009321 + Silent SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:213009321G>C uc001hjq.2 - 2 279 c.171C>G c.(169-171)TCC>TCG p.S57S NM_001024601 NP_001019772 Q537H7 CA227_HUMAN hypothetical protein LOC149643 57 0 TATCAGTAAAGGACTGATAGG 0.478 NA 45 162 0 0 0.00361 0 0 ANGEL2 90806 broad.mit.edu 37 1 213186655 213186655 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:213186655C>A uc001hjz.2 - 2 320 c.165G>T c.(163-165)ATG>ATT p.M55I ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron|ANGEL2_uc001hkb.2_Missense_Mutation_p.M33I NM_144567 NP_653168 Q5VTE6 ANGE2_HUMAN LOC90806 protein 55 0 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CAGGCCACCTCATACAACTAG 0.473 NA 29 172 8.88839e-20 1.14109e-19 0.002096 1 0 USH2A 7399 broad.mit.edu 37 1 215848155 215848155 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:215848155G>T uc001hku.1 - 63 13485 c.13098C>A c.(13096-13098)GCC>GCA p.A4366A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4366 Extracellular (Potential).|Fibronectin type-III 29. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGCACTGACGGCCCAAAGAT 0.478 NA HNSCC(13;0.011) 31 48 6.50621e-10 7.74519e-10 0.002836 1 0 USH2A 7399 broad.mit.edu 37 1 216363655 216363655 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:216363655G>T uc001hku.1 - 20 4693 c.4306C>A c.(4306-4308)CCT>ACT p.P1436T USH2A_uc001hkv.2_Missense_Mutation_p.P1436T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1436 Extracellular (Potential).|Fibronectin type-III 4. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATCCTATAAGGTTTCAGTCCT 0.358 NA HNSCC(13;0.011) 19 94 1.00905e-13 1.25275e-13 0.008871 1 0 WNT9A 7483 broad.mit.edu 37 1 228109378 228109378 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:228109378G>A uc001hri.2 - 4 1027 c.939C>T c.(937-939)TGC>TGT p.C313C NM_003395 NP_003386 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, 313 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|pancreas(1) 2 Prostate(94;0.0405) TCTCACGGTGGCACCTACGGC 0.672 NA 8 35 0 0 0.004482 0 0 TARBP1 6894 broad.mit.edu 37 1 234529224 234529224 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:234529224T>C uc001hwd.2 - 28 4444 c.4444A>G c.(4444-4446)AGG>GGG p.R1482G NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1482 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCACAGGTCCTGCACAGTCCT 0.502 NA 9 65 0 0 0.006214 0 0 MTR 4548 broad.mit.edu 37 1 236973836 236973836 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:236973836C>T uc001hyi.3 + 5 866 c.443C>T c.(442-444)CCG>CTG p.P148L MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.P148L|MTR_uc010pxy.1_Missense_Mutation_p.P148L|MTR_uc009xgj.1_5'UTR NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 148 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GCTCTGGGTCCGACTAATAAG 0.363 NA 29 136 0 0 0.008361 0 0 RYR2 6262 broad.mit.edu 37 1 237711753 237711753 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:237711753A>C uc001hyl.1 + 26 3049 c.2929A>C c.(2929-2931)AAG>CAG p.K977Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 977 Cytoplasmic (By similarity).|2.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGTGGATACAAGCCTGCCCC 0.423 NA 4 39 0 0 0.001984 0 0 RYR2 6262 broad.mit.edu 37 1 237813350 237813350 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:237813350C>A uc001hyl.1 + 50 7806 c.7686C>A c.(7684-7686)ACC>ACA p.T2562T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2562 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTCACTTACCAAAGCTCAGC 0.408 NA 48 166 2.64514e-33 3.45646e-33 0.00361 1 0 FMN2 56776 broad.mit.edu 37 1 240255602 240255602 + Nonsense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:240255602A>T uc010pyd.1 + 1 418 c.193A>T c.(193-195)AAG>TAG p.K65* FMN2_uc010pye.1_Nonsense_Mutation_p.K65* NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 65 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGCAAGAAGAAGAGCAAGTC 0.537 NA 6 9 0 0 0.001984 0 0 C1orf101 257044 broad.mit.edu 37 1 244715642 244715642 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:244715642A>G uc001iam.2 + 9 614 c.555A>G c.(553-555)GTA>GTG p.V185V C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Silent_p.V185V|C1orf101_uc010pym.1_Silent_p.V34V|C1orf101_uc010pyn.1_Silent_p.V118V NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 185 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) GTATTGTAGTACCAATGACAA 0.338 NA 30 82 0 0 0.009535 0 0 OR2G3 81469 broad.mit.edu 37 1 247768980 247768980 + Silent SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:247768980C>G uc010pyz.1 + 1 93 c.93C>G c.(91-93)GTC>GTG p.V31V NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTGTATTTGTCCTTTTCTTCT 0.463 NA 10 224 0 0 0.006214 0 0 OR11L1 391189 broad.mit.edu 37 1 248004548 248004548 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:248004548G>T uc001idn.1 - 1 651 c.651C>A c.(649-651)CCC>CCA p.P217P NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGAAAACATAGGGCCCCAGTG 0.488 NA 12 99 2.27111e-07 2.58487e-07 0.001368 1 0 OR2M5 127059 broad.mit.edu 37 1 248309002 248309002 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:248309002C>A uc010pze.1 + 1 553 c.553C>A c.(553-555)CTA>ATA p.L185I NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CCCTTCCCTACTAATCCTCTC 0.418 NA 58 460 9.53978e-28 1.24397e-27 0.00361 1 0 OR2T34 127068 broad.mit.edu 37 1 248737392 248737392 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:248737392A>G uc001iep.1 - 1 667 c.667T>C c.(667-669)TAC>CAC p.Y223H NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 223 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 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) ATGAGGGTGTATGAGCTGGAG 0.562 NA 26 292 0 0 0.004656 0 0 OR14I1 401994 broad.mit.edu 37 1 248845570 248845570 + Silent SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:248845570C>G uc001ieu.1 - 1 36 c.36G>C c.(34-36)CTG>CTC p.L12L NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 12 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAAACTCCATCAGCAGGAATT 0.443 NA 24 34 0 0 0.004656 0 0 PGBD2 267002 broad.mit.edu 37 1 249211112 249211112 + Missense_Mutation SNP G G A rs146329960 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:249211112G>A uc001ifh.2 + 3 476 c.329G>A c.(328-330)CGC>CAC p.R110H PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.R107H NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 110 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AAACCTCAGCGCATTTGGACC 0.527 NA 5 69 0 0 0.000602 0 0 ADARB2 105 broad.mit.edu 37 10 1279656 1279656 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:1279656G>A uc009xhq.2 - 6 1867 c.1493C>T c.(1492-1494)CCC>CTC p.P498L NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 498 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GATCTCGTAGGGAGAGTGGAG 0.552 NA 22 135 0 0 0.001882 0 0 ITIH5 80760 broad.mit.edu 37 10 7608296 7608296 + Missense_Mutation SNP G G A rs150896441 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:7608296G>A uc001ijq.2 - 13 2303 c.2224C>T c.(2224-2226)CGC>TGC p.R742C ITIH5_uc001ijp.2_Missense_Mutation_p.R528C NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 742 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GTGATAGTGCGCAAGTAAGTG 0.527 NA 10 42 0 0 0.008291 0 0 TAF3 83860 broad.mit.edu 37 10 7866286 7866286 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:7866286C>T uc010qbd.1 + 2 172 c.172C>T c.(172-174)CGA>TGA p.R58* NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 58 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 TTCAGATGGCCGAACAGACCC 0.353 NA 21 142 0 0 0.00278 0 0 CELF2 10659 broad.mit.edu 37 10 11367850 11367850 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:11367850A>G uc001iki.3 + 12 1399 c.1307A>G c.(1306-1308)GAC>GGC p.D436G CELF2_uc010qbj.1_Missense_Mutation_p.D442G|CELF2_uc001ikk.2_Missense_Mutation_p.D461G|CELF2_uc001ikl.3_Missense_Mutation_p.D449G|CELF2_uc010qbl.1_Missense_Mutation_p.D412G|CELF2_uc010qbm.1_Missense_Mutation_p.D208G|CELF2_uc001iko.3_Missense_Mutation_p.D416G|CELF2_uc001ikp.3_Missense_Mutation_p.D418G|CELF2_uc010qbn.1_Missense_Mutation_p.D424G|CELF2_uc010qbo.1_Missense_Mutation_p.D331G|CELF2_uc010qbp.1_Missense_Mutation_p.D208G NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 436 RRM 3.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 GAATTTGGAGACCAGGACATT 0.418 NA 15 86 0 0 0.003163 0 0 DHTKD1 55526 broad.mit.edu 37 10 12131255 12131255 + Splice_Site SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:12131255G>T uc001ild.3 + 5 1086 c.987_splice c.e5+1 p.Q329_splice NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTGCTTACAGGTACTTGGAGC 0.557 NA 19 69 1.2644e-06 1.40943e-06 0.010504 1 0 FAM107B 83641 broad.mit.edu 37 10 14816530 14816530 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:14816530C>G uc001ina.1 - 1 367 c.133G>C c.(133-135)GTG>CTG p.V45L FAM107B_uc010qbu.1_RNA NM_031453 NP_113641 Q9H098 F107B_HUMAN hypothetical protein LOC83641 Error:Variant_position_missing_in_Q9H098_after_alignment breast(4) 4 GTATCAGCCACGCCGGACTGA 0.552 NA 23 107 0 0 0.002299 0 0 CUBN 8029 broad.mit.edu 37 10 16867008 16867008 + Missense_Mutation SNP C C T rs148626202 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:16867008C>T uc001ioo.2 - 67 10890 c.10838G>A c.(10837-10839)CGT>CAT p.R3613H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3613 CUB 27. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGCGGATGGACGCCGTGCATA 0.463 NA 7 39 0 0 0.00308 0 0 CUBN 8029 broad.mit.edu 37 10 17110253 17110253 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:17110253T>A uc001ioo.2 - 21 2870 c.2818A>T c.(2818-2820)ACA>TCA p.T940S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 940 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGGTCCCTGTTGATTCTGTA 0.373 NA 7 142 0 0 0.001984 0 0 SLC39A12 221074 broad.mit.edu 37 10 18331738 18331738 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:18331738A>T uc001ipo.2 + 13 2325 c.2052A>T c.(2050-2052)ATA>ATT p.I684I SLC39A12_uc001ipn.2_Silent_p.I647I|SLC39A12_uc001ipp.2_Silent_p.I683I|SLC39A12_uc010qck.1_Silent_p.I550I NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 684 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TCTTGGCTATATATGAGCAAA 0.343 NA 17 51 0 0 0.00499 0 0 CACNB2 783 broad.mit.edu 37 10 18439885 18439885 + Nonsense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:18439885C>G uc001ipr.2 + 2 254 c.194C>G c.(193-195)TCA>TGA p.S65* CACNB2_uc009xjz.1_Nonsense_Mutation_p.S65*|CACNB2_uc001ips.2_Nonsense_Mutation_p.S65*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.S65*|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Nonsense_Mutation_p.S37*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.S37*|CACNB2_uc009xka.1_Nonsense_Mutation_p.S37* NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 65 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GATACTACCTCAAATAGTTTT 0.308 NA 31 99 0 0 0.004289 0 0 PLXDC2 84898 broad.mit.edu 37 10 20432341 20432341 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:20432341A>G uc001iqg.1 + 5 1296 c.659A>G c.(658-660)GAT>GGT p.D220G PLXDC2_uc001iqh.1_Missense_Mutation_p.D171G|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 220 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 AGATATTTTGATAATGGTATG 0.338 NA 12 90 0 0 0.001368 0 0 GPR158 57512 broad.mit.edu 37 10 25861745 25861745 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:25861745A>C uc001isj.2 + 7 1742 c.1682A>C c.(1681-1683)CAG>CCG p.Q561P NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 561 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CTTATTGGCCAGGGGAAAACA 0.448 NA 5 55 0 0 0.000602 0 0 SVIL 6840 broad.mit.edu 37 10 29815987 29815987 + Splice_Site SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:29815987T>C uc001iut.1 - 13 3000 c.2247_splice c.e13-1 p.T749_splice SVIL_uc001iuu.1_Intron NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) ATAGGTTCACTTTAAAAGCAA 0.453 NA 3 25 0 0 0.009096 0 0 LYZL2 119180 broad.mit.edu 37 10 30918551 30918551 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:30918551A>G uc001ivk.2 - 1 97 c.84T>C c.(82-84)TCT>TCC p.S28S NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 Error:Variant_position_missing_in_Q7Z4W2_after_alignment cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) TGCCTGCCGCAGAGGCTGACT 0.527 NA 12 49 0 0 0.001368 0 0 ZNF438 220929 broad.mit.edu 37 10 31133931 31133931 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:31133931T>C uc010qdz.1 - 8 2881 c.2446A>G c.(2446-2448)AAC>GAC p.N816D ZNF438_uc001ivn.2_Missense_Mutation_p.N767D|ZNF438_uc010qdy.1_Missense_Mutation_p.N806D|ZNF438_uc001ivo.3_Missense_Mutation_p.N380D|ZNF438_uc009xlg.2_Missense_Mutation_p.N816D|ZNF438_uc001ivp.3_Missense_Mutation_p.N806D|ZNF438_uc010qea.1_Missense_Mutation_p.N816D|ZNF438_uc010qeb.1_Missense_Mutation_p.N816D NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 816 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) ACTCCCTGGTTGGAGACCGTA 0.532 NA 14 278 0 0 0.003163 0 0 ZNF438 220929 broad.mit.edu 37 10 31137810 31137810 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:31137810T>C uc010qdz.1 - 7 1959 c.1524A>G c.(1522-1524)AGA>AGG p.R508R ZNF438_uc001ivn.2_Silent_p.R459R|ZNF438_uc010qdy.1_Silent_p.R498R|ZNF438_uc001ivo.3_Silent_p.R72R|ZNF438_uc009xlg.2_Silent_p.R508R|ZNF438_uc001ivp.3_Silent_p.R498R|ZNF438_uc010qea.1_Silent_p.R508R|ZNF438_uc010qeb.1_Silent_p.R508R|ZNF438_uc010qec.1_Silent_p.R72R NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 508 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) AGACGTGACATCTGTGCCAAG 0.488 NA 16 251 0 0 0.00499 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486217 37486217 + Nonsense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:37486217G>T uc001iza.1 + 28 2554 c.2455G>T c.(2455-2457)GAG>TAG p.E819* NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 875 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AGAGCCTCCCGAGAAGCCATC 0.323 NA 60 157 1.84395e-34 2.41207e-34 0.00361 1 0 ZNF37A 7587 broad.mit.edu 37 10 38406690 38406690 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:38406690A>T uc001izk.2 + 8 1430 c.611A>T c.(610-612)GAA>GTA p.E204V ZNF37A_uc001izl.2_Missense_Mutation_p.E204V|ZNF37A_uc001izm.2_Missense_Mutation_p.E204V NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 204 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TATGGTAATGAATGTGGAGAA 0.383 NA 26 60 0 0 0.008361 0 0 ZNF239 8187 broad.mit.edu 37 10 44052263 44052263 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:44052263T>C uc001jaw.3 - 2 1918 c.1265A>G c.(1264-1266)CAG>CGG p.Q422R ZNF239_uc001jax.3_Missense_Mutation_p.Q422R|ZNF239_uc009xmj.2_Missense_Mutation_p.Q422R|ZNF239_uc009xmk.2_Missense_Mutation_p.Q422R NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 422 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 ATGTACTCTCTGGTGGATGAG 0.522 NA 6 55 0 0 0.001168 0 0 ANUBL1 93550 broad.mit.edu 37 10 46111911 46111911 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:46111911A>G uc001jcp.3 - 10 2399 c.2157T>C c.(2155-2157)GTT>GTC p.V719V ANUBL1_uc001jcl.3_Silent_p.V239V|ANUBL1_uc001jcm.3_Silent_p.V719V|ANUBL1_uc009xmu.2_Silent_p.V645V|ANUBL1_uc001jcn.3_Silent_p.V645V|ANUBL1_uc001jco.3_3'UTR NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 719 zinc ion binding 0 TTGGTGCATTAACCACAGGAT 0.408 NA 9 125 0 0 0.004482 0 0 PCDH15 65217 broad.mit.edu 37 10 55582643 55582643 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:55582643A>G uc001jju.1 - 33 5238 c.4843T>C c.(4843-4845)TGT>CGT p.C1615R 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.C1612R|PCDH15_uc010qhw.1_Missense_Mutation_p.C1575R|PCDH15_uc010qhx.1_Missense_Mutation_p.C1546R|PCDH15_uc010qhy.1_Missense_Mutation_p.C1622R|PCDH15_uc010qhz.1_Missense_Mutation_p.C1617R|PCDH15_uc010qia.1_Missense_Mutation_p.C1595R|PCDH15_uc010qib.1_Missense_Mutation_p.C1592R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1615 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) TTGTTTGTACAGATTCCAGTG 0.428 NA HNSCC(58;0.16) 31 127 0 0 0.003755 0 0 PCDH15 65217 broad.mit.edu 37 10 55582862 55582862 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:55582862T>C uc001jju.1 - 33 5019 c.4624A>G c.(4624-4626)ATT>GTT p.I1542V 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.I1539V|PCDH15_uc010qhw.1_Missense_Mutation_p.I1502V|PCDH15_uc010qhx.1_Missense_Mutation_p.I1473V|PCDH15_uc010qhy.1_Missense_Mutation_p.I1549V|PCDH15_uc010qhz.1_Missense_Mutation_p.I1544V|PCDH15_uc010qia.1_Missense_Mutation_p.I1522V|PCDH15_uc010qib.1_Missense_Mutation_p.I1519V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1542 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) CTCTGTGAAATGTCTGAATTT 0.393 NA HNSCC(58;0.16) 23 134 0 0 0.00333 0 0 PCDH15 65217 broad.mit.edu 37 10 55944970 55944970 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:55944970G>A uc001jju.1 - 12 1759 c.1364C>T c.(1363-1365)ACA>ATA p.T455I PCDH15_uc010qhq.1_Missense_Mutation_p.T460I|PCDH15_uc010qhr.1_Missense_Mutation_p.T455I|PCDH15_uc010qhs.1_Missense_Mutation_p.T467I|PCDH15_uc010qht.1_Missense_Mutation_p.T462I|PCDH15_uc010qhu.1_Missense_Mutation_p.T455I|PCDH15_uc001jjv.1_Missense_Mutation_p.T433I|PCDH15_uc010qhv.1_Missense_Mutation_p.T455I|PCDH15_uc010qhw.1_Missense_Mutation_p.T418I|PCDH15_uc010qhx.1_Missense_Mutation_p.T455I|PCDH15_uc010qhy.1_Missense_Mutation_p.T460I|PCDH15_uc010qhz.1_Missense_Mutation_p.T455I|PCDH15_uc010qia.1_Missense_Mutation_p.T433I|PCDH15_uc010qib.1_Missense_Mutation_p.T433I|PCDH15_uc001jjw.2_Missense_Mutation_p.T455I NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 455 Cadherin 4.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACCAGTCTGTGTGACGGTGAA 0.388 NA HNSCC(58;0.16) 22 72 0 0 0.00278 0 0 ANK3 288 broad.mit.edu 37 10 61835419 61835419 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:61835419C>T uc001jky.2 - 37 5412 c.5220G>A c.(5218-5220)ACG>ACA p.T1740T ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1740 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTTCCTGTAACGTGGCAGTGG 0.433 NA 9 83 0 0 0.004482 0 0 NRBF2 29982 broad.mit.edu 37 10 64913381 64913381 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:64913381C>T uc001jmj.3 + 4 491 c.267C>T c.(265-267)AAC>AAT p.N89N NRBF2_uc010qip.1_Silent_p.N79N NM_030759 NP_110386 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 89 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding 0 Prostate(12;0.0119)|all_hematologic(501;0.191) CCCAGCAGAACACAGACAAGG 0.512 NA 9 56 0 0 0.006214 0 0 HERC4 26091 broad.mit.edu 37 10 69751983 69751983 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:69751983G>A uc001jng.3 - 11 1555 c.1244C>T c.(1243-1245)TCT>TTT p.S415F HERC4_uc009xpq.2_5'UTR|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.S415F|HERC4_uc009xpr.2_Missense_Mutation_p.S415F|HERC4_uc001jni.3_Missense_Mutation_p.S159F|HERC4_uc001jnj.2_Missense_Mutation_p.S415F NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 415 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 AAACCTTCCAGAAGGATAGCT 0.323 NA 16 72 0 0 0.004007 0 0 MYPN 84665 broad.mit.edu 37 10 69934191 69934191 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:69934191A>G uc001jnm.3 + 12 2527 c.2342A>G c.(2341-2343)CAA>CGA p.Q781R MYPN_uc001jnn.3_Missense_Mutation_p.Q506R|MYPN_uc001jno.3_Missense_Mutation_p.Q781R|MYPN_uc009xpt.2_Missense_Mutation_p.Q781R|MYPN_uc010qit.1_Missense_Mutation_p.Q487R|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 781 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CTTTCCATCCAAAATGAGCCA 0.527 NA 23 66 0 0 0.002299 0 0 DDX50 79009 broad.mit.edu 37 10 70672916 70672916 + Splice_Site SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:70672916A>G uc001jou.2 + 5 747 c.640_splice c.e5-2 p.V214_splice DDX50_uc001jot.2_Splice_Site_p.V214_splice|DDX50_uc010qjc.1_Splice_Site_p.V214_splice NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 CCTCTTGCTCAGGTACTTGTT 0.358 NA 7 34 0 0 0.00308 0 0 CDH23 64072 broad.mit.edu 37 10 73544143 73544143 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:73544143C>A uc001jrx.3 + 40 5845 c.5468C>A c.(5467-5469)GCC>GAC p.A1823D NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1823 Cadherin 17.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ACCATCTGTGCCCGTGACCGG 0.632 NA 16 63 2.23348e-06 2.47634e-06 0.004007 1 0 CAMK2G 818 broad.mit.edu 37 10 75607836 75607836 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:75607836G>T uc001jvv.1 - 9 706 c.582C>A c.(580-582)GTC>GTA p.V194V CAMK2G_uc001jvm.1_Silent_p.V202V|CAMK2G_uc001jvo.1_Silent_p.V202V|CAMK2G_uc001jvq.1_Silent_p.V202V|CAMK2G_uc001jvr.1_Silent_p.V202V|CAMK2G_uc001jvp.1_Silent_p.V202V|CAMK2G_uc001jvs.1_Silent_p.V202V|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.V180V|CAMK2G_uc010qkv.1_Intron NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II 202 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) TATACAGGATGACCCCTACGA 0.532 NA 25 111 1.17739e-12 1.44303e-12 0.005443 1 0 LDB3 11155 broad.mit.edu 37 10 88439263 88439263 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:88439263T>A uc001kdv.2 + 2 256 c.233T>A c.(232-234)CTC>CAC p.L78H LDB3_uc010qml.1_Missense_Mutation_p.L78H|LDB3_uc010qmm.1_Missense_Mutation_p.L78H|LDB3_uc001kdu.2_Missense_Mutation_p.L78H|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.L78H|LDB3_uc009xsy.2_Missense_Mutation_p.L78H|LDB3_uc001kds.2_Missense_Mutation_p.L78H|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 78 PDZ. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 AACTTGAGCCTCACCCTGCAG 0.587 NA 36 45 0 0 0.006999 0 0 IFIT2 3433 broad.mit.edu 37 10 91066380 91066380 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:91066380C>T uc009xts.2 + 2 842 c.667C>T c.(667-669)CGT>TGT p.R223C LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 223 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) TCATAAGATGCGTGAAGAAGG 0.493 NA 17 59 0 0 0.006122 0 0 PDE6C 5146 broad.mit.edu 37 10 95385369 95385369 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:95385369T>C uc001kiu.3 + 5 1040 c.902T>C c.(901-903)GTA>GCA p.V301A NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 301 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding p.V301_E302del(1) ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) CTTGGAGAAGTAGAGCCTTAT 0.423 NA 13 29 0 0 0.003163 0 0 PI4K2A 55361 broad.mit.edu 37 10 99426256 99426256 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:99426256T>A uc001kog.1 + 7 1203 c.1146T>A c.(1144-1146)GAT>GAA p.D382E PI4K2A_uc010qoy.1_Missense_Mutation_p.D352E|PI4K2A_uc009xvw.1_Intron NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 382 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding lung(1)|skin(1) 2 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) AGATCAAAGATCTGATCCTTC 0.468 NA 11 51 0 0 0.001368 0 0 SFXN3 81855 broad.mit.edu 37 10 102796833 102796833 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:102796833A>G uc001ksp.2 + 8 1062 c.606A>G c.(604-606)AGA>AGG p.R202R SFXN3_uc001ksq.2_Silent_p.R202R|SFXN3_uc010qpx.1_Silent_p.R206R NM_030971 NP_112233 Q9BWM7 SFXN3_HUMAN sideroflexin 3 202 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) TCCCTTGCAGAGAGCTGCAGG 0.627 NA 13 27 0 0 0.00245 0 0 CNNM2 54805 broad.mit.edu 37 10 104678357 104678357 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:104678357C>T uc001kwm.2 + 1 244 c.120C>T c.(118-120)ATC>ATT p.I40I CNNM2_uc001kwn.2_Silent_p.I40I|CNNM2_uc001kwl.2_Silent_p.I40I NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 40 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCCGGGGGATCCTGCAGGCGG 0.592 NA 3 6 0 0 0.009096 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075426 106075426 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:106075426G>A uc001kye.2 - 2 457 c.384C>T c.(382-384)GGC>GGT p.G128G ITPRIP_uc001kyf.2_Silent_p.G128G|ITPRIP_uc001kyg.2_Silent_p.G128G NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN inositol 1,4,5-triphosphate receptor interacting 128 plasma membrane 0 GCAAGGGGGCGCCCCCCAGCC 0.692 NA 11 88 0 0 0.001368 0 0 C10orf96 374355 broad.mit.edu 37 10 118084561 118084561 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:118084561C>A uc001lck.2 + 2 289 c.38C>A c.(37-39)ACC>AAC p.T13N NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 13 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) ATCATCTTCACCGAGCATCAG 0.517 NA 14 48 1.05317e-09 1.25014e-09 0.00245 1 0 TIAL1 7073 broad.mit.edu 37 10 121337189 121337189 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:121337189T>C uc001lei.1 - 8 1180 c.616A>G c.(616-618)ACT>GCT p.T206A TIAL1_uc001leh.1_Missense_Mutation_p.T184A|TIAL1_uc001lej.1_Missense_Mutation_p.T223A|TIAL1_uc001lek.1_Missense_Mutation_p.T83A|TIAL1_uc009xzi.1_Missense_Mutation_p.T75A|TIAL1_uc010qtb.1_Missense_Mutation_p.T83A NM_003252 NP_003243 Q01085 TIAR_HUMAN TIA-1 related protein isoform 1 206 RRM 3. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) CAGTACACAGTACAATTTTTT 0.368 NA 39 136 0 0 0.003214 0 0 GPR26 2849 broad.mit.edu 37 10 125426343 125426343 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:125426343C>A uc001lhh.2 + 1 473 c.420C>A c.(418-420)GCC>GCA p.A140A NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 140 Helical; Name=4; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) TCCCAGCCGCCGCGCTCGCCC 0.711 NA 4 11 0.00909568 0.00938228 0.009096 1 0 CPXM2 119587 broad.mit.edu 37 10 125521574 125521574 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:125521574G>T uc001lhk.1 - 11 1916 c.1591C>A c.(1591-1593)CGG>AGG p.R531R CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 531 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CAGGGGGACCGCACCAGGTCG 0.632 NA 17 104 1.33834e-09 1.5826e-09 0.007413 1 0 C10orf137 26098 broad.mit.edu 37 10 127436206 127436206 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:127436206T>C uc001liq.1 + 20 3209 c.2916T>C c.(2914-2916)TTT>TTC p.F972F C10orf137_uc001lin.2_Silent_p.F938F|C10orf137_uc001lio.1_Silent_p.F938F|C10orf137_uc001lip.1_Silent_p.F676F|C10orf137_uc001lis.1_Silent_p.F298F|C10orf137_uc001lit.1_5'Flank NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 972 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTACTTACTTTACTATGGCAA 0.388 NA 14 70 0 0 0.00245 0 0 DPYSL4 10570 broad.mit.edu 37 10 134016185 134016185 + Nonsense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:134016185C>A uc009ybb.2 + 12 1471 c.1317C>A c.(1315-1317)TGC>TGA p.C439* NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 439 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GAGTGGAGTGCCGGGGAGCGC 0.657 NA 11 51 3.07112e-06 3.39597e-06 0.000978 1 0 B4GALNT4 338707 broad.mit.edu 37 11 379674 379674 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:379674G>A uc001lpb.2 + 15 2470 c.2461G>A c.(2461-2463)GAC>AAC p.D821N NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 821 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGCGCCAGGACGTGATGGT 0.682 NA 6 15 0 0 0.00308 0 0 MUC5B 727897 broad.mit.edu 37 11 1269131 1269131 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:1269131C>A uc009ycr.1 + 50 12731 c.12605C>A c.(12604-12606)ACC>AAC p.T4202N MUC5B_uc001ltb.2_Missense_Mutation_p.T3677N NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3674 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGCCCCAGCACCCCGGCCACC 0.597 NA 28 131 2.59497e-14 3.23137e-14 0.007835 1 0 MRPL23 6150 broad.mit.edu 37 11 1974042 1974042 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:1974042T>C uc001lux.2 + 4 345 c.254T>C c.(253-255)GTG>GCG p.V85A NM_021134 NP_066957 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 85 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|ovary(1) 3 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) CACAGAAACGTGAGGATCAAG 0.502 NA OREG0020673 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 18 0 0 0.004672 0 0 OR51E1 143503 broad.mit.edu 37 11 4673831 4673831 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:4673831G>T uc001lzi.3 + 2 219 c.75G>T c.(73-75)GAG>GAT p.E25D NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTTAGAAGAGGCTCAGTTCT 0.493 NA 43 111 2.40228e-13 2.97653e-13 0.003214 1 0 OR51F1 256892 broad.mit.edu 37 11 4790450 4790450 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:4790450G>A uc010qyl.1 - 1 698 c.698C>T c.(697-699)CCT>CTT p.P233L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 233 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) CCATTCTTCAGGGGAGGCAAT 0.453 NA 36 80 0 0 0.005524 0 0 OR52R1 119695 broad.mit.edu 37 11 4825052 4825052 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:4825052C>A uc010qym.1 - 1 796 c.796G>T c.(796-798)GTG>TTG p.V266L NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AACTTCAGCACAGCCATGTGC 0.522 NA 43 67 1.41504e-22 1.83365e-22 0.002852 1 0 OR52R1 119695 broad.mit.edu 37 11 4825054 4825054 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:4825054G>C uc010qym.1 - 1 794 c.794C>G c.(793-795)GCT>GGT p.A265G NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTCAGCACAGCCATGTGCTC 0.522 NA 42 69 0 0 0.002852 0 0 OR51B5 282763 broad.mit.edu 37 11 5364088 5364088 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:5364088C>T uc001map.1 - 1 667 c.667G>A c.(667-669)GTC>ATC p.V223I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGCTCAGGACAGTCTTGAGT 0.448 NA 7 111 0 0 0.001984 0 0 OR56B1 387748 broad.mit.edu 37 11 5758380 5758380 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:5758380G>A uc001mbt.1 + 1 634 c.634G>A c.(634-636)GCA>ACA p.A212T TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GTTGGTTCTGGCATGGCTTGG 0.453 NA 9 52 0 0 0.008291 0 0 OR56A1 120796 broad.mit.edu 37 11 6048892 6048892 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:6048892G>T uc010qzw.1 - 1 43 c.43C>A c.(43-45)CCA>ACA p.P15T NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAGAGACTGGGACAGTGGAG 0.527 NA 9 82 3.09899e-07 3.51746e-07 0.004482 1 0 OR56B4 196335 broad.mit.edu 37 11 6129945 6129945 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:6129945C>A uc010qzx.1 + 1 937 c.937C>A c.(937-939)CTG>ATG p.L313M NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGCTTGGACTGGGTCAGGA 0.483 NA 22 123 2.27731e-05 2.47421e-05 0.001882 1 0 OR10A5 144124 broad.mit.edu 37 11 6867096 6867096 + Nonsense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:6867096C>G uc001met.1 + 1 183 c.183C>G c.(181-183)TAC>TAG p.Y61* NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCCCCATGTACTTCTTCCTCA 0.473 Pancreas(44;21 1072 25662 28041 45559) NA 44 165 0 0 0.00361 0 0 OR10A5 144124 broad.mit.edu 37 11 6867123 6867123 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:6867123G>T uc001met.1 + 1 210 c.210G>T c.(208-210)CTG>CTT p.L70L NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TATCTTTCCTGGAGATTGGCT 0.498 Pancreas(44;21 1072 25662 28041 45559) NA 36 131 1.07637e-12 1.32182e-12 0.004878 1 0 NLRP14 338323 broad.mit.edu 37 11 7081289 7081289 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:7081289A>T uc001mfb.1 + 9 3121 c.2798A>T c.(2797-2799)GAC>GTC p.D933V NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 933 LRR 8. 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) AATCTTCAGGACTTGGAGTAG 0.443 NA 40 161 0 0 0.002852 0 0 RIC3 79608 broad.mit.edu 37 11 8148266 8148266 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:8148266T>G uc001mgd.2 - 5 664 c.610A>C c.(610-612)ATT>CTT p.I204L RIC3_uc001mgb.2_Missense_Mutation_p.I42L|RIC3_uc001mgc.2_Missense_Mutation_p.I203L|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.I154L|RIC3_uc010rbm.1_Missense_Mutation_p.I232L|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Missense_Mutation_p.I7L NM_024557 NP_078833 Q7Z5B4 RIC3_HUMAN resistance to inhibitors of cholinesterase 3 204 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane large_intestine(1)|ovary(1)|pancreas(1) 3 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) AATCTGTCAATGAATTTTCCT 0.448 NA 17 62 0 0 0.004007 0 0 STK33 65975 broad.mit.edu 37 11 8496256 8496256 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:8496256T>A uc001mgi.1 - 1 1116 c.197A>T c.(196-198)AAC>ATC p.N66I STK33_uc001mgj.1_Missense_Mutation_p.N66I|STK33_uc001mgk.1_Missense_Mutation_p.N66I|STK33_uc010rbn.1_Missense_Mutation_p.N25I|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 66 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TATATCTCTGTTGATATTTTT 0.388 NA 9 41 0 0 0.004482 0 0 IPO7 10527 broad.mit.edu 37 11 9445353 9445353 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:9445353G>A uc001mho.2 + 10 1213 c.1071G>A c.(1069-1071)TTG>TTA p.L357L NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 357 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTTTTCCATTGATGTGCTATA 0.313 NA 10 95 0 0 0.008291 0 0 IPO7 10527 broad.mit.edu 37 11 9445360 9445360 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:9445360T>C uc001mho.2 + 10 1220 c.1078T>C c.(1078-1080)TAT>CAT p.Y360H NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 360 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ATTGATGTGCTATACAGATGC 0.318 NA 12 101 0 0 0.001855 0 0 CSNK2A1P 283106 broad.mit.edu 37 11 11373918 11373918 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:11373918C>A uc001mjp.2 - 1 987 c.749G>T c.(748-750)GGG>GTG p.G250V GALNTL4_uc001mjo.2_Intron NM_177559 NP_808227 casein kinase II alpha 1 subunit isoform a 0 ATCTTCTGTCCCCAGAAACTT 0.418 NA 18 113 2.70662e-09 3.18245e-09 0.009535 1 0 CSNK2A1P 283106 broad.mit.edu 37 11 11374301 11374301 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:11374301C>A uc001mjp.2 - 1 604 c.366G>T c.(364-366)AAG>AAT p.K122N GALNTL4_uc001mjo.2_Intron NM_177559 NP_808227 casein kinase II alpha 1 subunit isoform a 0 GGTACAATTGCTTGAAGTCTG 0.438 NA 18 108 2.94398e-08 3.39732e-08 0.007413 1 0 SPON1 10418 broad.mit.edu 37 11 14280894 14280894 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:14280894A>T uc001mle.2 + 13 2099 c.1561A>T c.(1561-1563)ATG>TTG p.M521L NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 521 TSP type-1 2. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) CGGCATGGGCATGAGGTCCCG 0.627 NA 5 8 0 0 0.001168 0 0 INSC 387755 broad.mit.edu 37 11 15212305 15212305 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:15212305G>A uc001mly.2 + 6 825 c.779G>A c.(778-780)GGG>GAG p.G260E INSC_uc001mlz.2_Missense_Mutation_p.G213E|INSC_uc001mma.2_Missense_Mutation_p.G213E|INSC_uc010rcs.1_Missense_Mutation_p.G248E|INSC_uc001mmb.2_Missense_Mutation_p.G213E|INSC_uc001mmc.2_Missense_Mutation_p.G213E NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 260 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TCCACCACAGGGAACCTGTTC 0.512 NA 35 133 0 0 0.004878 0 0 SOX6 55553 broad.mit.edu 37 11 16077358 16077358 + Silent SNP C C A rs139974161 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:16077358C>A uc001mme.2 - 10 1263 c.1230G>T c.(1228-1230)ACG>ACT p.T410T SOX6_uc001mmd.2_Silent_p.T359T|SOX6_uc001mmf.2_Silent_p.T356T|SOX6_uc001mmg.2_Silent_p.T397T NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 397 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 TAGGTGAGACCGTCCCTGCTG 0.502 NA 15 57 2.32078e-09 2.73137e-09 0.003163 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16838711 16838711 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:16838711C>A uc001mmo.2 - 11 1517 c.1502G>T c.(1501-1503)CGA>CTA p.R501L PLEKHA7_uc010rcu.1_Missense_Mutation_p.R501L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.R75L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R209L NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 501 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 GTGGCTGGCTCGGTCCTGCGC 0.642 NA 21 111 2.89027e-11 3.49756e-11 0.002299 1 0 ABCC8 6833 broad.mit.edu 37 11 17430022 17430022 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:17430022G>T uc001mnc.2 - 23 2863 c.2737C>A c.(2737-2739)CTC>ATC p.L913I NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 913 ABC transporter 1.|Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AAGTCCTTGAGGGTACCCTCC 0.552 NA 21 107 3.8784e-16 4.89324e-16 0.001882 1 0 KCNC1 3746 broad.mit.edu 37 11 17793334 17793334 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:17793334G>A uc001mnk.3 + 2 748 c.693G>A c.(691-693)ACG>ACA p.T231T KCNC1_uc009yhc.1_Silent_p.T231T NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 231 voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 GCAATGGCACGCAAGTGCGCT 0.577 NA 16 86 0 0 0.003163 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159239 18159239 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:18159239C>A uc001mnu.2 + 3 851 c.490C>A c.(490-492)CTG>ATG p.L164M NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 164 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CTGTGACTTCCTGTTTAGTGG 0.522 NA 11 117 0.000978159 0.00103296 0.000978 1 0 FANCF 2188 broad.mit.edu 37 11 22647210 22647210 + Silent SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:22647210A>C uc001mql.1 - 1 178 c.147T>G c.(145-147)GGT>GGG p.G49G NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 49 DNA repair nucleoplasm protein binding skin(1) 1 GGCCATGCCGACCAAAGCGCC 0.677 NA N|F AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 6 42 0 0 0.001168 0 0 Unknown 0 broad.mit.edu 37 11 31086146 31086146 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:31086146C>A uc009yjk.1 - 8 874 c.805G>T c.(805-807)GGT>TGT p.G269C uc009yjl.1_Missense_Mutation_p.G197C|DCDC1_uc001msu.1_Missense_Mutation_p.G440C RecName: Full=Doublecortin domain-containing protein 5; NA TGCTTCAGACCAAGGTTGCTG 0.423 NA 23 83 2.70639e-06 2.998e-06 0.002299 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136488 40136488 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:40136488G>A uc001mxa.1 - 2 3319 c.1355C>T c.(1354-1356)TCT>TTT p.S452F LRRC4C_uc001mxc.1_Missense_Mutation_p.S448F|LRRC4C_uc001mxd.1_Missense_Mutation_p.S448F|LRRC4C_uc001mxb.1_Missense_Mutation_p.S448F NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 452 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) TGAAAAGTAAGAGAAAGGAGT 0.488 NA 40 73 0 0 0.00623 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137478 40137478 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:40137478C>A uc001mxa.1 - 2 2329 c.365G>T c.(364-366)GGT>GTT p.G122V LRRC4C_uc001mxc.1_Missense_Mutation_p.G118V|LRRC4C_uc001mxd.1_Missense_Mutation_p.G118V|LRRC4C_uc001mxb.1_Missense_Mutation_p.G118V NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 122 LRR 2. 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) GTTCGCCAGACCATTGAAAGC 0.433 NA 22 39 1.50039e-11 1.82274e-11 0.001882 1 0 CHRM4 1132 broad.mit.edu 37 11 46408003 46408003 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:46408003A>G uc001nct.1 - 1 105 c.105T>C c.(103-105)ATT>ATC p.I35I NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 35 Helical; Name=1; (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TCACTGTGGCAATGAAGACCA 0.552 Esophageal Squamous(171;1020 1936 4566 30205 42542) NA 18 67 0 0 0.010504 0 0 LRP4 4038 broad.mit.edu 37 11 46921473 46921473 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:46921473C>A uc001ndn.3 - 4 517 c.371G>T c.(370-372)CGG>CTG p.R124L LRP4_uc009ylh.1_Missense_Mutation_p.R75L NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 124 Extracellular (Potential).|LDL-receptor class A 3. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CCACAGACTCCGGATGCAGTA 0.632 NA 39 56 2.95478e-19 3.78552e-19 0.00874 1 0 AGBL2 79841 broad.mit.edu 37 11 47681749 47681749 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:47681749G>T uc001ngg.2 - 18 2785 c.2685C>A c.(2683-2685)TCC>TCA p.S895S AGBL2_uc001ngf.2_RNA NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 895 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 ATATGTGCAAGGATGGGTATG 0.522 NA 7 63 0.00307968 0.0032006 0.00308 1 0 OR4A5 81318 broad.mit.edu 37 11 51412112 51412112 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:51412112C>A uc001nhi.1 - 1 284 c.284G>T c.(283-285)TGC>TTC p.C95F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) CTGGCCCATGCAACCTTGGAA 0.453 NA 23 62 6.44725e-10 7.68236e-10 0.002299 1 0 OR4C46 119749 broad.mit.edu 37 11 51515322 51515322 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:51515322G>T uc010ric.1 + 1 41 c.41G>T c.(40-42)GGG>GTG p.G14V NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTTTTGCTGGGGCTTACAGAG 0.333 NA 35 70 1.66425e-11 2.01983e-11 0.004878 1 0 OR8H3 390152 broad.mit.edu 37 11 55890409 55890409 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:55890409G>T uc001nii.1 + 1 561 c.561G>T c.(559-561)CTG>CTT p.L187L NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TTTTAGCTCTGTCCTGCACTG 0.423 NA 43 226 7.05121e-23 9.14672e-23 0.002522 1 0 OR8H3 390152 broad.mit.edu 37 11 55890411 55890411 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:55890411C>T uc001nii.1 + 1 563 c.563C>T c.(562-564)TCC>TTC p.S188F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TTAGCTCTGTCCTGCACTGAC 0.418 NA 42 221 0 0 0.009718 0 0 OR8J3 81168 broad.mit.edu 37 11 55904663 55904663 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:55904663A>G uc010riz.1 - 1 532 c.532T>C c.(532-534)TAC>CAC p.Y178H NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) ATATCACAGTAAAAATGATTG 0.348 NA 18 71 0 0 0.006122 0 0 OR8K5 219453 broad.mit.edu 37 11 55927589 55927589 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:55927589C>T uc010rja.1 - 1 205 c.205G>A c.(205-207)GTT>ATT p.V69I NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CCAAGATCAACAAAAGCCAAA 0.408 NA 31 102 0 0 0.002096 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995971 57995971 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:57995971C>T uc010rkd.1 - 1 377 c.377G>A c.(376-378)CGC>CAC p.R126H NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) AGCCACATAGCGGTCATAGGC 0.607 NA 8 30 0 0 0.00308 0 0 OR5B12 390191 broad.mit.edu 37 11 58207488 58207488 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:58207488A>C uc010rkh.1 - 1 137 c.137T>G c.(136-138)TTG>TGG p.L46W NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 46 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAGTAGAATCAATTCAATCAT 0.493 NA 15 51 0 0 0.004007 0 0 CNTF 1270 broad.mit.edu 37 11 58391564 58391564 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:58391564G>T uc001nna.3 + 2 252 c.172G>T c.(172-174)GTG>TTG p.V58L ZFP91-CNTF_uc010rkm.1_RNA NM_000614 NP_000605 P26441 CNTF_HUMAN ciliary neurotrophic factor 58 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGGGATGCCAGTGGCAAGCAC 0.527 NA 8 59 0.000274275 0.000291872 0.004482 1 0 OR4D9 390199 broad.mit.edu 37 11 59282678 59282678 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:59282678T>C uc010rkv.1 + 1 293 c.293T>C c.(292-294)GTC>GCC p.V98A NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGTGGCTGTGTCACTCAAATG 0.473 NA 9 75 0 0 0.006214 0 0 DDB1 1642 broad.mit.edu 37 11 61097030 61097030 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:61097030G>A uc001nrc.3 - 4 580 c.354C>T c.(352-354)ACC>ACT p.T118T DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.T118T|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Silent_p.T118T|DDB1_uc009ynl.1_Intron NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 118 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 CAATAATGCCGGTCTCTGAGG 0.507 NA NER 4 19 0 0 0.000602 0 0 DAGLA 747 broad.mit.edu 37 11 61511354 61511354 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:61511354T>C uc001nsa.2 + 20 2633 c.2522T>C c.(2521-2523)CTG>CCG p.L841P NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 841 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) ACTGAGCTGCTGGCGGCCGAC 0.672 NA 21 283 0 0 0.00333 0 0 EEF1G 1937 broad.mit.edu 37 11 62340201 62340201 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:62340201T>A uc001ntm.1 - 2 172 c.26A>T c.(25-27)TAT>TTT p.Y9F EEF1G_uc010rlw.1_Missense_Mutation_p.Y59F|EEF1G_uc001ntn.1_5'UTR NM_001404 NP_001395 P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 9 GST N-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 GTTTTCAGGATACGTGTACAG 0.522 NA 9 42 0 0 0.006214 0 0 TMEM179B 374395 broad.mit.edu 37 11 62557415 62557415 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:62557415C>T uc001nvd.3 + 5 586 c.556C>T c.(556-558)CAG>TAG p.Q186* NM_199337 NP_955369 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 186 Helical; (Potential). integral to membrane 0 CCAGGTCGTGCAGTGGAAGTC 0.562 NA 9 161 0 0 0.006214 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141428 63141428 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:63141428G>A uc001nww.2 + 4 992 c.724G>A c.(724-726)GGT>AGT p.G242S SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 242 Helical; (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 GTGCCCTTCTGGTATTGCATT 0.478 NA 18 44 0 0 0.00499 0 0 PLCB3 5331 broad.mit.edu 37 11 64026363 64026363 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:64026363G>A uc001nzb.2 + 12 1260 c.1260G>A c.(1258-1260)AAG>AAA p.K420K PLCB3_uc009ypg.1_Silent_p.K420K|PLCB3_uc009yph.1_Silent_p.K353K|PLCB3_uc009ypi.2_Silent_p.K420K NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 420 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 GCAGGGCAAAGCAACAGGCAA 0.607 NA 13 48 0 0 0.00245 0 0 MRPL49 740 broad.mit.edu 37 11 64893273 64893273 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:64893273A>G uc001oda.1 + 4 521 c.430A>G c.(430-432)ACA>GCA p.T144A MRPL49_uc001ocz.1_RNA NM_004927 NP_004918 Q13405 RM49_HUMAN mitochondrial ribosomal protein L49 144 translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 CAATGAGGTGACAGGTACCCT 0.557 NA 29 122 0 0 0.005443 0 0 TIGD3 220359 broad.mit.edu 37 11 65123341 65123341 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:65123341T>C uc001odo.3 + 2 225 c.62T>C c.(61-63)CTG>CCG p.L21P NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 21 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 ATCCAGGTGCTGGAACTCCTG 0.602 NA 14 76 0 0 0.00245 0 0 TIGD3 220359 broad.mit.edu 37 11 65124103 65124103 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:65124103G>A uc001odo.3 + 2 987 c.824G>A c.(823-825)GGC>GAC p.G275D NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 275 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 GAGCTGGCAGGCCTGCCTGGG 0.647 NA 10 70 0 0 0.006214 0 0 CTSW 1521 broad.mit.edu 37 11 65650585 65650585 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:65650585T>C uc001ogc.1 + 8 833 c.791T>C c.(790-792)ATC>ACC p.I264T CTSW_uc001ogb.1_Missense_Mutation_p.I264T NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 264 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) ACCGTGACCATCAACATGAAG 0.612 NA 33 147 0 0 0.003271 0 0 PACS1 55690 broad.mit.edu 37 11 65988100 65988100 + Splice_Site SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:65988100A>T uc001oha.1 + 9 1173 c.1039_splice c.e9-2 p.V347_splice NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 TTTTCCCTGCAGGTGGGCTTT 0.502 NA 22 32 0 0 0.002299 0 0 ZDHHC24 254359 broad.mit.edu 37 11 66311439 66311439 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:66311439A>G uc001oin.1 - 2 492 c.295T>C c.(295-297)TGC>CGC p.C99R ACTN3_uc010rpi.1_5'Flank|ACTN3_uc001oio.1_5'Flank|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_Missense_Mutation_p.C99R NM_207340 NP_997223 Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 99 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding 0 TGGCTTTGGCATTGGTAGCAG 0.662 NA OREG0021110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 75 0 0 0.001984 0 0 RBM4 5936 broad.mit.edu 37 11 66411054 66411054 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:66411054C>T uc009yrj.2 + 3 1034 c.546C>T c.(544-546)CGC>CGT p.R182R RBM4_uc009yrk.2_Silent_p.R157R|RBM4_uc001oiw.1_Silent_p.R182R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R182R|RBM4_uc001oiz.1_Silent_p.R182R NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 182 circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) GTTCAGGCCGCGTGGCAGACT 0.557 NA 13 47 0 0 0.001855 0 0 AIP 9049 broad.mit.edu 37 11 67258406 67258406 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:67258406G>A uc001olv.2 + 6 1060 c.935G>A c.(934-936)CGG>CAG p.R312Q NM_003977 NP_003968 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 312 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding 0 CTGGAGGCACGGATCCGGCAG 0.642 NA Familial_Isolated_Pituitary_Adenoma_ 13 21 0 0 0.004007 0 0 TCIRG1 10312 broad.mit.edu 37 11 67815252 67815252 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:67815252G>A uc001one.2 + 12 1552 c.1444G>A c.(1444-1446)GCC>ACC p.A482T TCIRG1_uc001ong.2_Missense_Mutation_p.A266T|TCIRG1_uc001onh.2_Missense_Mutation_p.A184T|TCIRG1_uc001oni.2_5'UTR|TCIRG1_uc009ysd.2_5'Flank NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 482 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 GGCCGCCATGGCCAACCAGTC 0.682 NA 26 147 0 0 0.008361 0 0 NUMA1 4926 broad.mit.edu 37 11 71719744 71719744 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:71719744T>C uc001orl.1 - 20 5378 c.5206A>G c.(5206-5208)AGT>GGT p.S1736G NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.S1285G|NUMA1_uc001ork.1_Missense_Mutation_p.S600G|NUMA1_uc001orm.1_Missense_Mutation_p.S1722G|NUMA1_uc001orn.2_Missense_Mutation_p.S1299G NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1736 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CTGGTGATACTGAGTGGGGTC 0.522 NA T RARA APL 24 40 0 0 0.004656 0 0 STARD10 10809 broad.mit.edu 37 11 72466013 72466013 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:72466013C>T uc001osy.2 - 7 1096 c.805G>A c.(805-807)GCC>ACC p.A269T ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.A269T|STARD10_uc001ota.2_Missense_Mutation_p.A223T|STARD10_uc001otb.2_Missense_Mutation_p.A269T|ARAP1_uc001osu.2_5'Flank NM_006645 NP_006636 Q9Y365 PCTL_HUMAN START domain containing 10 269 0 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) CTGCTCTCGGCCACCGCGCTC 0.706 NA 3 21 0 0 0.009096 0 0 C2CD3 26005 broad.mit.edu 37 11 73765676 73765676 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:73765676C>A uc001ouu.2 - 26 5358 c.5131G>T c.(5131-5133)GTC>TTC p.V1711F C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1711 C2 2. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) ACTTTGAAGACCAGGGTTTGT 0.348 NA 12 98 2.27111e-07 2.58487e-07 0.001368 1 0 MOGAT2 80168 broad.mit.edu 37 11 75439835 75439835 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:75439835G>T uc010rru.1 + 5 651 c.651G>T c.(649-651)GGG>GGT p.G217G MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Silent_p.G135G NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 217 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) TTGTCTCCAGGGCACCCCTGG 0.532 NA 21 67 0.00121646 0.00127919 0.008871 1 0 OMP 4975 broad.mit.edu 37 11 76814356 76814356 + Silent SNP C C T rs2233550 by1000genomes TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:76814356C>T uc010rsk.1 + 1 471 c.471C>T c.(469-471)TCC>TCT p.S157S CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron NM_006189 NP_006180 P47874 OMP_HUMAN olfactory marker protein 157 sensory perception of smell|synaptic transmission 0 TCAAGGCCTCCGTGGTTTTTA 0.602 NA 20 89 0 0 0.001882 0 0 GAB2 9846 broad.mit.edu 37 11 77961261 77961261 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:77961261C>T uc001ozh.2 - 3 562 c.562G>A c.(562-564)GCA>ACA p.A188T GAB2_uc001ozg.2_Missense_Mutation_p.A150T NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 188 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TCCTGAGGTGCGCTGGTGGAC 0.557 NA 25 198 0 0 0.00333 0 0 DLG2 1740 broad.mit.edu 37 11 83195190 83195190 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:83195190C>G uc001paj.2 - 17 2263 c.1960G>C c.(1960-1962)GAA>CAA p.E654Q DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.E759Q|DLG2_uc010rtb.1_Missense_Mutation_p.E621Q|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 654 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCACTGGTTTCCTGCTCACTC 0.408 NA 17 87 0 0 0.007413 0 0 FAT3 120114 broad.mit.edu 37 11 92085701 92085701 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:92085701G>T uc001pdj.3 + 1 440 c.423G>T c.(421-423)TGG>TGT p.W141C NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 141 Cadherin 1.|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) TGGAAGCATGGACCAAAGTGA 0.373 NA TCGA Ovarian(4;0.039) 8 26 5.18039e-06 5.7182e-06 0.00308 1 0 SLC36A4 120103 broad.mit.edu 37 11 92881785 92881785 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:92881785G>A uc001pdn.2 - 11 1530 c.1433C>T c.(1432-1434)CCT>CTT p.P478L uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Missense_Mutation_p.P343L NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 478 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTTGGGAGTAGGATAAATAAT 0.328 NA 23 106 0 0 0.001882 0 0 TAF1D 79101 broad.mit.edu 37 11 93471430 93471430 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:93471430T>A uc001ped.2 - 3 506 c.304A>T c.(304-306)ACA>TCA p.T102S SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_RNA NM_024116 NP_077021 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding 0 GGTCTTCCTGTTGGCTGGTAC 0.358 NA 27 160 0 0 0.002096 0 0 CNTN5 53942 broad.mit.edu 37 11 99690377 99690377 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:99690377G>T uc001pga.2 + 4 497 c.158G>T c.(157-159)CGA>CTA p.R53L CNTN5_uc009ywv.1_Missense_Mutation_p.R53L|CNTN5_uc001pfz.2_Missense_Mutation_p.R53L|CNTN5_uc001pgb.2_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 53 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACCAGACCACGATACAGCAGC 0.423 NA 5 70 5.9392e-07 6.67422e-07 0.001168 1 0 CNTN5 53942 broad.mit.edu 37 11 100221521 100221521 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:100221521T>A uc001pga.2 + 24 3458 c.3119T>A c.(3118-3120)GTC>GAC p.V1040D CNTN5_uc001pgb.2_Missense_Mutation_p.V966D|CNTN5_uc010ruk.1_Missense_Mutation_p.V311D NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 1040 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GATGCTGGAGTCTATATTATT 0.398 NA 9 95 0 0 0.004482 0 0 TMEM133 83935 broad.mit.edu 37 11 100863357 100863357 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:100863357C>A uc001pgf.2 + 1 547 c.318C>A c.(316-318)ACC>ACA p.T106T NM_032021 NP_114410 Q9H2Q1 TM133_HUMAN transmembrane protein 133 106 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) TCATTGTCACCGTTATCCCCC 0.413 NA 19 242 1.45105e-14 1.81054e-14 0.006122 1 0 MMP13 4322 broad.mit.edu 37 11 102822743 102822743 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:102822743T>C uc001phl.2 - 5 825 c.797A>G c.(796-798)TAT>TGT p.Y266C NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 266 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) CGAGTTACCATAGAGAGACTG 0.353 NA 32 840 0 0 0.004289 0 0 CASP4 837 broad.mit.edu 37 11 104815577 104815577 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:104815577A>G uc001pid.1 - 8 1110 c.1037T>C c.(1036-1038)GTA>GCA p.V346A CASP4_uc001pib.1_Missense_Mutation_p.V290A|CASP4_uc009yxg.1_Missense_Mutation_p.V255A NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 346 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TGATTGCTGTACCTGAAAAAG 0.413 NA 10 32 0 0 0.006214 0 0 CASP1 834 broad.mit.edu 37 11 104899951 104899951 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:104899951A>G uc010rve.1 - 7 923 c.906T>C c.(904-906)TCT>TCC p.S302S CASP1_uc001pig.2_Silent_p.S209S|CASP1_uc001pik.2_Silent_p.S265S|CASP1_uc010rvf.1_Silent_p.S209S|CASP1_uc010rvg.1_Silent_p.S281S|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Silent_p.S302S|CASP1_uc009yxi.2_Silent_p.S281S|CASP1_uc010rvj.1_Silent_p.S302S|CASP1_uc009yxj.2_Silent_p.S147S|CASP1_uc010rvk.1_Silent_p.S263S NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 302 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) ATAGGTTTCCAGAAACTCCTA 0.413 NSCLC(41;1246 1743 4934) NA 6 44 0 0 0.001168 0 0 EXPH5 23086 broad.mit.edu 37 11 108381280 108381280 + Nonsense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:108381280C>A uc001pkk.2 - 6 5065 c.4954G>T c.(4954-4956)GAG>TAG p.E1652* EXPH5_uc010rvy.1_Nonsense_Mutation_p.E1464*|EXPH5_uc010rvz.1_Nonsense_Mutation_p.E1496*|EXPH5_uc010rwa.1_Nonsense_Mutation_p.E1576* NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1652 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCAATGGACTCTGCAGATTTT 0.483 NA 39 115 5.04308e-16 6.35622e-16 0.00623 1 0 NCAM1 4684 broad.mit.edu 37 11 113078037 113078037 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:113078037G>T uc009yyq.1 + 6 1023 c.329G>T c.(328-330)GGC>GTC p.G110V NCAM1_uc001pno.2_Missense_Mutation_p.G110V NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 228 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCCAACCTCGGCCAGTCCGTC 0.522 NA 11 97 0.000151284 0.000161543 0.001855 1 0 FAM55A 120400 broad.mit.edu 37 11 114401078 114401078 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:114401078T>C uc001ppa.2 - 3 643 c.226A>G c.(226-228)ACT>GCT p.T76A FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.T218A NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 218 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) CCACATTCAGTGAAGACATGA 0.458 NA 24 63 0 0 0.003954 0 0 APOA4 337 broad.mit.edu 37 11 116692115 116692115 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:116692115C>A uc001pps.1 - 3 763 c.659G>T c.(658-660)CGC>CTC p.R220L NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CAGGCTGCGGCGCAGCTCCTC 0.582 NA 30 153 1.16021e-09 1.37588e-09 0.007291 1 0 SIK3 23387 broad.mit.edu 37 11 116734527 116734527 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:116734527A>G uc001ppy.2 - 15 1678 c.1642T>C c.(1642-1644)TAC>CAC p.Y548H SIK3_uc001ppz.2_Missense_Mutation_p.Y447H|SIK3_uc001pqa.2_Missense_Mutation_p.Y548H|SIK3_uc001ppw.2_5'UTR|SIK3_uc001ppx.2_Silent_p.P22P|SIK3_uc001pqb.2_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 548 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GAGTCCTTGTAGGTAGAGCTG 0.537 NA 26 103 0 0 0.004656 0 0 SCN2B 6327 broad.mit.edu 37 11 118037610 118037610 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:118037610C>T uc001psf.2 - 4 831 c.640G>A c.(640-642)GCC>ACC p.A214T NM_004588 NP_004579 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta 214 Cytoplasmic (Potential). synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) CACTACTTGGCGCCATCATCC 0.617 NA 15 77 0 0 0.006122 0 0 HYOU1 10525 broad.mit.edu 37 11 118918710 118918710 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:118918710T>G uc001puu.2 - 21 2652 c.2459A>C c.(2458-2460)GAA>GCA p.E820A HYOU1_uc001put.2_Missense_Mutation_p.E785A|HYOU1_uc010ryu.1_Missense_Mutation_p.E778A|HYOU1_uc010ryv.1_Missense_Mutation_p.E709A|HYOU1_uc001pux.3_Missense_Mutation_p.E820A NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 820 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) AGACAGCCGTTCGGGCCACTT 0.542 NA 14 40 0 0 0.003163 0 0 NLRX1 79671 broad.mit.edu 37 11 119045255 119045255 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:119045255A>G uc001pvu.2 + 6 1158 c.943A>G c.(943-945)ACC>GCC p.T315A NLRX1_uc010rzc.1_Missense_Mutation_p.T137A|NLRX1_uc001pvv.2_Missense_Mutation_p.T315A|NLRX1_uc001pvw.2_Missense_Mutation_p.T315A|NLRX1_uc001pvx.2_Missense_Mutation_p.T315A NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 315 Required for interaction with MAVS.|NACHT. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TTTCTCTGATACCAACCTGCA 0.597 NA 13 179 0 0 0.001368 0 0 USP2 9099 broad.mit.edu 37 11 119243829 119243829 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:119243829C>T uc001pwm.3 - 2 657 c.362G>A c.(361-363)TGC>TAC p.C121Y USP2_uc001pwn.3_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a 121 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GTAGCTGAGGCAGTTGTTGGT 0.622 NA 14 159 0 0 0.003163 0 0 POU2F3 25833 broad.mit.edu 37 11 120176403 120176403 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:120176403G>T uc001pxc.2 + 8 780 c.678G>T c.(676-678)CAG>CAT p.Q226H POU2F3_uc010rzk.1_Missense_Mutation_p.Q180H|POU2F3_uc010rzl.1_Missense_Mutation_p.Q156H|POU2F3_uc001pxe.1_Missense_Mutation_p.Q11H NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 226 POU-specific. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) ACTTCAGCCAGACCACCATCT 0.577 NA 24 98 9.57634e-11 1.15212e-10 0.00333 1 0 TECTA 7007 broad.mit.edu 37 11 120983858 120983858 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:120983858G>T uc010rzo.1 + 4 564 c.564G>T c.(562-564)TGG>TGT p.W188C NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 188 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AAATCAACTGGACCACGGGGA 0.577 NA OREG0021430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 62 2.23348e-06 2.47634e-06 0.004007 1 0 C11orf63 79864 broad.mit.edu 37 11 122775152 122775152 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:122775152G>T uc001pym.2 + 3 1161 c.864G>T c.(862-864)CAG>CAT p.Q288H C11orf63_uc001pyl.1_Missense_Mutation_p.Q288H NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 288 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ATCCAGAACAGGTACGTAGTG 0.388 NA 40 151 2.26627e-22 2.93366e-22 0.007835 1 0 OR10G7 390265 broad.mit.edu 37 11 123908953 123908953 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:123908953G>A uc001pzq.1 - 1 756 c.756C>T c.(754-756)GGC>GGT p.G252G NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AAAGACCAGGGCCAAAGAAGC 0.567 NA 11 59 0 0 0.000978 0 0 PKNOX2 63876 broad.mit.edu 37 11 125280187 125280187 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:125280187C>T uc001qbu.2 + 8 998 c.684C>T c.(682-684)ATC>ATT p.I228I PKNOX2_uc010saz.1_Silent_p.I199I|PKNOX2_uc010sba.1_Silent_p.I199I|PKNOX2_uc010sbb.1_Silent_p.I164I|PKNOX2_uc001qbv.2_5'Flank NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 228 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AGGGCAACATCGCCATGACAA 0.587 NA 27 63 0 0 0.004656 0 0 CHEK1 1111 broad.mit.edu 37 11 125525121 125525121 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:125525121G>A uc009zbo.2 + 13 2229 c.1337G>A c.(1336-1338)GGT>GAT p.G446D CHEK1_uc010sbh.1_Missense_Mutation_p.G462D|CHEK1_uc010sbi.1_Missense_Mutation_p.G412D|CHEK1_uc001qcf.3_Missense_Mutation_p.G446D|CHEK1_uc009zbp.2_Missense_Mutation_p.G446D|CHEK1_uc001qcg.3_Missense_Mutation_p.G446D|CHEK1_uc009zbq.2_Missense_Mutation_p.G402D|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_Missense_Mutation_p.G94D NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 446 Autoinhibitory region. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) CTAATATAGGGTGATGGATTG 0.338 NA Other_conserved_DNA_damage_response_genes 9 20 0 0 0.004482 0 0 HYLS1 219844 broad.mit.edu 37 11 125769723 125769723 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:125769723T>A uc009zbv.2 + 4 994 c.460T>A c.(460-462)TTT>ATT p.F154I HYLS1_uc001qcx.3_Missense_Mutation_p.F154I|PUS3_uc001qcy.2_Intron NM_145014 NP_659451 Q96M11 HYLS1_HUMAN hydrolethalus syndrome 1 154 centrosome|nucleus upper_aerodigestive_tract(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) TTCACAAAAATTTAACCTACC 0.398 Esophageal Squamous(172;2590 2636 8884 10471) NA 5 98 0 0 0.001168 0 0 FAM118B 79607 broad.mit.edu 37 11 126126732 126126732 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:126126732A>G uc001qdf.2 + 7 1150 c.967A>G c.(967-969)ACA>GCA p.T323A FAM118B_uc009zca.2_Missense_Mutation_p.T327A|FAM118B_uc001qdg.2_Missense_Mutation_p.T323A NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 323 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) TGAGATCTCCACAAGGGGTAC 0.433 NA 44 145 0 0 0.002852 0 0 NFRKB 4798 broad.mit.edu 37 11 129742993 129742993 + Splice_Site SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:129742993T>C uc001qfi.2 - 23 2752 c.2551_splice c.e23-1 p.T851_splice NFRKB_uc001qfg.2_Splice_Site_p.T876_splice|NFRKB_uc001qfh.2_Splice_Site_p.T874_splice|NFRKB_uc010sbw.1_Splice_Site_p.T861_splice|NFRKB_uc009zcr.2_Splice_Site_p.T137_splice NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CATTACTGTCTAGTTGAGGGC 0.567 NA 4 8 0 0 0.000602 0 0 IGSF9B 22997 broad.mit.edu 37 11 133799598 133799598 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:133799598A>G uc001qgx.3 - 12 1830 c.1599T>C c.(1597-1599)TAT>TAC p.Y533Y IGSF9B_uc001qgy.1_Silent_p.Y375Y NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 533 Extracellular (Potential).|Fibronectin type-III 1. integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) AGCCTCCATCATAGCCTGGTT 0.602 NA 11 55 0 0 0.001855 0 0 ACAD8 27034 broad.mit.edu 37 11 134134824 134134824 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:134134824A>T uc001qhk.2 + 11 1279 c.1218A>T c.(1216-1218)ATA>ATT p.I406I ACAD8_uc001qhl.2_Silent_p.I279I NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 406 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) TGATGAGGATACTGATCTCTA 0.512 GBM(65;238 1125 33403 41853 48889) NA 9 158 0 0 0.001368 0 0 FGF23 8074 broad.mit.edu 37 12 4479656 4479656 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:4479656C>A uc001qmq.1 - 3 755 c.609G>T c.(607-609)CCG>CCT p.P203P NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 203 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) AACAGGAGGCCGGGGCCGGGG 0.706 NA 8 54 0.00307968 0.0032006 0.00308 1 0 KCNA5 3741 broad.mit.edu 37 12 5154172 5154172 + Missense_Mutation SNP G G A rs149582940 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:5154172G>A uc001qni.2 + 1 1088 c.859G>A c.(859-861)GCG>ACG p.A287T NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 287 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CCACCCTCCGGCGCCCCACCA 0.682 NA 18 91 0 0 0.007413 0 0 ANO2 57101 broad.mit.edu 37 12 5853387 5853387 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:5853387C>A uc001qnm.2 - 12 1347 c.1275G>T c.(1273-1275)GCG>GCT p.A425A NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 430 Extracellular (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 GGCTGGCCTGCGCGGTCCCAC 0.557 NA 12 85 2.80697e-09 3.29422e-09 0.000978 1 0 VWF 7450 broad.mit.edu 37 12 6145658 6145658 + Splice_Site SNP C C A rs61748480 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:6145658C>A uc001qnn.1 - 19 2693 c.2443_splice c.e19-1 p.V815_splice VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CATGCCGGACCTAAGAGAAAA 0.537 NA 7 62 2.7689e-08 3.20121e-08 0.001984 1 0 CD163L1 283316 broad.mit.edu 37 12 7585029 7585029 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:7585029A>G uc001qsy.2 - 4 775 c.749T>C c.(748-750)GTC>GCC p.V250A CD163L1_uc010sge.1_Missense_Mutation_p.V260A NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 250 SRCR 2.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AGTTAATGTGACATCCTCATT 0.393 NA 11 57 0 0 0.008291 0 0 CD163 9332 broad.mit.edu 37 12 7640238 7640238 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:7640238C>A uc001qsz.3 - 8 1895 c.1767G>T c.(1765-1767)AAG>AAT p.K589N CD163_uc001qta.3_Missense_Mutation_p.K589N|CD163_uc009zfw.2_Missense_Mutation_p.K622N NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 589 SRCR 6.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CACACGGGGTCTTGCCATTCA 0.512 NA 11 122 6.40141e-05 6.87682e-05 0.000978 1 0 FAM90A1 55138 broad.mit.edu 37 12 8377398 8377398 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:8377398C>A uc001qui.2 - 4 590 c.31G>T c.(31-33)GCA>TCA p.A11S FAM90A1_uc001quh.2_Missense_Mutation_p.A11S NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 11 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) AGTCTCTTTGCCCCAGGTTTG 0.587 NA 5 38 3.59834e-05 3.88908e-05 0.001168 1 0 CSDA 8531 broad.mit.edu 37 12 10856658 10856658 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:10856658C>T uc001qyt.2 - 7 1113 c.870G>A c.(868-870)AGG>AGA p.R290R CSDA_uc001qyu.2_Silent_p.R221R NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 290 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) ACCTACGGTACCTTGGGCGGT 0.488 NA 16 70 0 0 0.003163 0 0 LRP6 4040 broad.mit.edu 37 12 12315178 12315178 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:12315178A>G uc001rah.3 - 10 2370 c.2228T>C c.(2227-2229)GTG>GCG p.V743A BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V743A NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 743 Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 12. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) GTCTTTCCACACCAAAACTTG 0.498 NA 9 136 0 0 0.008291 0 0 KIAA1467 57613 broad.mit.edu 37 12 13208754 13208754 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:13208754C>T uc001rbi.2 + 2 330 c.307C>T c.(307-309)CGC>TGC p.R103C KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 103 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GTCATATGTGCGCACGTCTGT 0.582 NA 26 85 0 0 0.005443 0 0 ATF7IP 55729 broad.mit.edu 37 12 14599920 14599920 + Splice_Site SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:14599920A>G uc001rbw.2 + 6 2088 c.1930_splice c.e6-2 p.A644_splice ATF7IP_uc010shs.1_Splice_Site_p.A643_splice|ATF7IP_uc001rbu.2_Splice_Site_p.A644_splice|ATF7IP_uc001rbv.1_Splice_Site_p.A643_splice|ATF7IP_uc001rbx.2_Splice_Site_p.A643_splice|ATF7IP_uc010sht.1_Splice_Site_p.A644_splice|ATF7IP_uc001rby.3_Splice_Site_p.A644_splice|ATF7IP_uc001rca.2_Splice_Site_p.A644_splice NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TTTTTTTTTCAGGCCAAGATA 0.269 NA 4 21 0 0 0.009096 0 0 GYS2 2998 broad.mit.edu 37 12 21715920 21715920 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:21715920A>T uc001rfb.2 - 7 1249 c.994T>A c.(994-996)TAT>AAT p.Y332N NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 332 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 GAAAACTCATACCTCCCAGCA 0.378 Colon(149;9 1820 3690 10544 50424) NA 52 119 0 0 0.00361 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|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) 14 11 7.93312e-07 8.86685e-07 0.00245 1 0 TMTC1 83857 broad.mit.edu 37 12 29689180 29689180 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:29689180C>A uc001rjb.2 - 11 1897 c.1423G>T c.(1423-1425)GAT>TAT p.D475Y TMTC1_uc001riz.2_Missense_Mutation_p.D232Y|TMTC1_uc001rja.2_Missense_Mutation_p.D319Y|TMTC1_uc001rjc.1_Missense_Mutation_p.D537Y NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 583 TPR 4. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GAATATGCATCTGCAAACTCT 0.368 NA 20 138 7.45023e-12 9.07745e-12 0.010504 1 0 TMTC1 83857 broad.mit.edu 37 12 29709802 29709802 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:29709802C>T uc001rjb.2 - 10 1814 c.1340G>A c.(1339-1341)GGG>GAG p.G447E TMTC1_uc001riz.2_Missense_Mutation_p.G204E|TMTC1_uc001rja.2_Missense_Mutation_p.G291E|TMTC1_uc001rjc.1_Missense_Mutation_p.G509E NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 555 TPR 3. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GAGGAGATTCCCCAGATTGAA 0.483 NA 13 51 0 0 0.001855 0 0 TMTC1 83857 broad.mit.edu 37 12 29709899 29709899 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:29709899G>A uc001rjb.2 - 10 1717 c.1243C>T c.(1243-1245)CTT>TTT p.L415F TMTC1_uc001riz.2_Missense_Mutation_p.L172F|TMTC1_uc001rja.2_Missense_Mutation_p.L259F|TMTC1_uc001rjc.1_Missense_Mutation_p.L477F NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 523 TPR 2. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AGTGTTCCAAGGTTGTTGAGC 0.458 NA 5 94 0 0 0.000602 0 0 KIF21A 55605 broad.mit.edu 37 12 39695300 39695300 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:39695300T>A uc001rly.2 - 37 5059 c.4913A>T c.(4912-4914)CAC>CTC p.H1638L KIF21A_uc001rlv.2_Missense_Mutation_p.H583L|KIF21A_uc001rlw.2_Missense_Mutation_p.H908L|KIF21A_uc001rlx.2_Missense_Mutation_p.H1625L|KIF21A_uc001rlz.2_Missense_Mutation_p.H1585L|KIF21A_uc010skl.1_Missense_Mutation_p.H1601L|KIF21A_uc001rlt.2_Missense_Mutation_p.H258L|KIF21A_uc001rlu.2_Missense_Mutation_p.H258L NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1638 WD 7. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) AGTAAAAATGTGGGTGGAATT 0.353 NA 31 104 0 0 0.002445 0 0 NELL2 4753 broad.mit.edu 37 12 45001014 45001014 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:45001014G>A uc001rog.2 - 15 2196 c.1601C>T c.(1600-1602)GCC>GTC p.A534V NELL2_uc001rof.3_Missense_Mutation_p.A533V|NELL2_uc001roh.2_Missense_Mutation_p.A534V|NELL2_uc009zkd.2_Missense_Mutation_p.A533V|NELL2_uc010skz.1_Missense_Mutation_p.A584V|NELL2_uc010sla.1_Missense_Mutation_p.A557V|NELL2_uc001roi.1_Missense_Mutation_p.A534V|NELL2_uc010slb.1_Missense_Mutation_p.A533V NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 534 EGF-like 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GGCAATACAGGCTCCTCCATT 0.383 NA 9 43 0 0 0.008291 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471225 47471225 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:47471225A>G uc001rpm.2 - 3 2216 c.1561T>C c.(1561-1563)TCC>CCC p.S521P FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.S521P|AMIGO2_uc001rpl.2_Missense_Mutation_p.S521P NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 521 Cytoplasmic (Potential). heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) AATTAAGTGGACGCCACAAAA 0.403 NA 5 37 0 0 0.001168 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471601 47471601 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:47471601T>C uc001rpm.2 - 3 1840 c.1185A>G c.(1183-1185)GCA>GCG p.A395A FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.A395A|AMIGO2_uc001rpl.2_Silent_p.A395A NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 395 Extracellular (Potential). heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) CTGTGTTAAATGCCTCATGAG 0.433 NA 15 53 0 0 0.00245 0 0 FAM113B 91523 broad.mit.edu 37 12 47629134 47629134 + Silent SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:47629134C>G uc001rpn.2 + 4 1019 c.288C>G c.(286-288)CGC>CGG p.R96R FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Silent_p.R96R NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 96 hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) TCCTCACCCGCGTGTACTCCG 0.592 NA 25 144 0 0 0.00333 0 0 FAM113B 91523 broad.mit.edu 37 12 47629138 47629138 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:47629138T>A uc001rpn.2 + 4 1023 c.292T>A c.(292-294)TAC>AAC p.Y98N FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Missense_Mutation_p.Y98N NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 98 hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) CACCCGCGTGTACTCCGATTA 0.587 NA 25 150 0 0 0.003954 0 0 H1FNT 341567 broad.mit.edu 37 12 48723269 48723269 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:48723269C>T uc001rrm.2 + 1 507 c.195C>T c.(193-195)CTC>CTT p.L65L NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 65 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 AGTTGGTGCTCCAGGCCATCT 0.622 NA 6 25 0 0 0.001168 0 0 WNT10B 7480 broad.mit.edu 37 12 49364124 49364124 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:49364124T>G uc001rss.2 - 3 431 c.85A>C c.(85-87)AAT>CAT p.N29H WNT10B_uc001rst.2_Missense_Mutation_p.N29H NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 29 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 AGAATCTCATTGCTTAGAGCC 0.637 NA 12 46 0 0 0.000978 0 0 RACGAP1 29127 broad.mit.edu 37 12 50386086 50386086 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:50386086T>C uc001rvt.2 - 16 1830 c.1520A>G c.(1519-1521)CAT>CGT p.H507R RACGAP1_uc009zlm.1_Missense_Mutation_p.H507R|RACGAP1_uc001rvs.2_Missense_Mutation_p.H507R|RACGAP1_uc001rvu.2_Missense_Mutation_p.H507R NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 507 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 GGGCACAGCATGGGCCACTAT 0.448 NA 41 118 0 0 0.002852 0 0 RACGAP1 29127 broad.mit.edu 37 12 50390984 50390984 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:50390984T>A uc001rvt.2 - 12 1193 c.883A>T c.(883-885)ATT>TTT p.I295F RACGAP1_uc009zlm.1_Missense_Mutation_p.I295F|RACGAP1_uc001rvs.2_Missense_Mutation_p.I295F|RACGAP1_uc001rvu.2_Missense_Mutation_p.I295F NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 295 Phorbol-ester/DAG-type. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 TCAGGTTTAATAACCTGGGAT 0.333 NA 11 54 0 0 0.001368 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51281099 51281099 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:51281099G>T uc001rwx.3 + 5 897 c.850G>T c.(850-852)GTA>TTA p.V284L TMPRSS12_uc001rwy.2_3'UTR NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane protease, serine 12 precursor 284 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity 0 AAGATTTTTTGTAATGGGAAT 0.403 NA 6 63 0.00116845 0.00122973 0.001168 1 0 ITGA7 3679 broad.mit.edu 37 12 56078909 56078909 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:56078909G>T uc001shh.2 - 25 3579 c.3359C>A c.(3358-3360)CCC>CAC p.P1120H ITGA7_uc001shg.2_Missense_Mutation_p.P1116H|ITGA7_uc010sps.1_Missense_Mutation_p.P1023H|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.P363H|ITGA7_uc009znx.2_Missense_Mutation_p.P997H NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1160 1.|3 X 4 AA repeats of D-X-H-P.|Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 AGCCAGGATGGGGTGTGCATC 0.682 NA 8 29 2.74318e-10 3.27811e-10 0.006214 1 0 LRP1 4035 broad.mit.edu 37 12 57599438 57599438 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:57599438G>A uc001snd.2 + 75 12034 c.11568G>A c.(11566-11568)ACG>ACA p.T3856T NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3856 Extracellular (Potential).|EGF-like 15. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCATGAAGACGCACAACACCT 0.622 NA 10 47 0 0 0.006214 0 0 XRCC6BP1 91419 broad.mit.edu 37 12 58350476 58350476 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:58350476G>T uc001sqp.2 + 6 584 c.544G>T c.(544-546)GTG>TTG p.V182L NM_033276 NP_150592 Q9Y6H3 ATP23_HUMAN XRCC6 binding protein 1 182 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity ovary(1) 1 TTAGACTTGTGTGCGAGACAG 0.303 NA 10 49 3.86212e-05 4.16694e-05 0.008291 1 0 DPY19L2 283417 broad.mit.edu 37 12 63963125 63963125 + Silent SNP G G T rs2942672 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:63963125G>T uc001srp.1 - 21 2186 c.2005C>A c.(2005-2007)CGG>AGG p.R669R DPY19L2_uc010sso.1_Silent_p.R116R NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 669 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ATTTTTGTCCGAGCCCtttaa 0.244 NA 17 61 1.15088e-07 1.31589e-07 0.004007 1 0 CNOT2 4848 broad.mit.edu 37 12 70724089 70724089 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:70724089A>G uc001svv.2 + 6 988 c.409A>G c.(409-411)AGG>GGG p.R137G CNOT2_uc009zro.2_Missense_Mutation_p.R137G|CNOT2_uc009zrp.2_Missense_Mutation_p.R117G|CNOT2_uc009zrq.2_Missense_Mutation_p.R137G NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 137 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TATGAATCCTAGGAATATGAT 0.403 NA 15 85 0 0 0.004007 0 0 PTPRB 5787 broad.mit.edu 37 12 70928297 70928297 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:70928297C>T uc001swb.3 - 29 5715 c.5685G>A c.(5683-5685)CCG>CCA p.P1895P uc001svz.2_Intron|PTPRB_uc010sto.1_Silent_p.P1805P|PTPRB_uc010stp.1_Silent_p.P1805P|PTPRB_uc001swc.3_Silent_p.P2113P|PTPRB_uc001swa.3_Silent_p.P2025P NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1895 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCCCAGCACCCGGGCTTCTGT 0.527 NA 4 26 0 0 0.009096 0 0 PTPRB 5787 broad.mit.edu 37 12 70989879 70989879 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:70989879G>T uc001swb.3 - 3 584 c.554C>A c.(553-555)GCT>GAT p.A185D PTPRB_uc010sto.1_Missense_Mutation_p.A185D|PTPRB_uc010stp.1_Missense_Mutation_p.A185D|PTPRB_uc001swc.3_Missense_Mutation_p.A403D|PTPRB_uc001swa.3_Missense_Mutation_p.A403D|PTPRB_uc001swd.3_Missense_Mutation_p.A402D|PTPRB_uc009zrr.1_Missense_Mutation_p.A282D|PTPRB_uc001swe.2_Missense_Mutation_p.A403D NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 185 Fibronectin type-III 2.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCAGAAACAGCTGTGATGGC 0.343 NA 12 29 5.16669e-11 6.24015e-11 0.000978 1 0 TBC1D15 64786 broad.mit.edu 37 12 72290489 72290489 + Nonsense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:72290489G>A uc001swu.2 + 10 1143 c.1134G>A c.(1132-1134)TGG>TGA p.W378* TBC1D15_uc009zrv.2_Nonsense_Mutation_p.W240*|TBC1D15_uc010stt.1_Nonsense_Mutation_p.W347*|TBC1D15_uc001swv.2_Nonsense_Mutation_p.W361*|TBC1D15_uc001sww.2_Nonsense_Mutation_p.W110* NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 356 Rab-GAP TBC. protein binding|Rab GTPase activator activity 0 AGCAAGCATGGAAATTTCTTC 0.343 NA 8 47 0 0 0.006214 0 0 KCNC2 3747 broad.mit.edu 37 12 75601215 75601215 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:75601215C>T uc001sxg.1 - 2 1093 c.549G>A c.(547-549)GAG>GAA p.E183E KCNC2_uc009zry.2_Silent_p.E183E|KCNC2_uc001sxe.2_Silent_p.E183E|KCNC2_uc001sxf.2_Silent_p.E183E|KCNC2_uc010stw.1_Silent_p.E183E NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 183 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 CCGCCAGGTCCTCGTCGTCGC 0.726 NA 3 17 0 0 0.004672 0 0 PPFIA2 8499 broad.mit.edu 37 12 81762565 81762565 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:81762565G>T uc001szo.1 - 13 1582 c.1421C>A c.(1420-1422)ACT>AAT p.T474N PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 400 ovary(3)|lung(2)|pancreas(1) 6 ATTGGATTCAGTCAGAAGTCT 0.353 NA 27 92 4.7796e-09 5.59344e-09 0.004656 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85446027 85446027 + Nonsense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:85446027G>T uc001tac.2 + 7 862 c.751G>T c.(751-753)GAG>TAG p.E251* LRRIQ1_uc001tab.1_Nonsense_Mutation_p.E251*|LRRIQ1_uc001taa.1_Intron NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 251 Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TAAACAGCATGAGGTATCTAT 0.274 NA 14 52 1.5739e-10 1.88807e-10 0.004007 1 0 C12orf12 196477 broad.mit.edu 37 12 91347651 91347651 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:91347651T>G uc001tbj.2 - 1 1303 c.869A>C c.(868-870)TAT>TCT p.Y290S NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 290 Potential.|Glu-rich. central_nervous_system(1)|pancreas(1) 2 ctcctggtcatactcctcctc 0.224 NA 47 161 0 0 0.003214 0 0 C12orf63 374467 broad.mit.edu 37 12 97084914 97084914 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:97084914T>C uc001tet.1 + 11 1443 c.1365T>C c.(1363-1365)CTT>CTC p.L455L NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 455 skin(6)|ovary(1) 7 AGGGTTTGCTTAGAACAACAC 0.333 NA 6 41 0 0 0.001984 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603383 101603383 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:101603383C>T uc001thz.3 - 1 634 c.244G>A c.(244-246)GGG>AGG p.G82R NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 82 Extracellular (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 AAAATGGCCCCAAAACGGTAG 0.582 GBM(60;420 1056 13605 22380 47675) NA 7 30 0 0 0.001984 0 0 GLT8D2 83468 broad.mit.edu 37 12 104397073 104397073 + Missense_Mutation SNP C C T rs140897214 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:104397073C>T uc001tkh.1 - 5 530 c.124G>A c.(124-126)GAG>AAG p.E42K GLT8D2_uc001tki.1_Missense_Mutation_p.E42K NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 42 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 TCAGGAGTCTCGGATTCATCA 0.453 NA 13 83 0 0 0.001855 0 0 SELPLG 6404 broad.mit.edu 37 12 109017658 109017658 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:109017658C>T uc001tni.2 - 2 586 c.426G>A c.(424-426)CAG>CAA p.Q142Q SELPLG_uc001tnh.2_Silent_p.Q132Q|SELPLG_uc010sxe.1_Silent_p.Q158Q NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 142 3.|Extracellular (Potential).|12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 GTGGAGTGGTCTGTGCCTCCG 0.612 NA 14 85 0 0 0.006122 0 0 UBE3B 89910 broad.mit.edu 37 12 109949024 109949024 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:109949024C>T uc001top.2 + 18 2475 c.1872C>T c.(1870-1872)AGC>AGT p.S624S UBE3B_uc001toq.2_Silent_p.S624S|UBE3B_uc001tos.2_Silent_p.S51S|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.S624S NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 624 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TCAAACCTAGCGTGCTCTTCC 0.403 NA 4 50 0 0 0.009096 0 0 UBE3B 89910 broad.mit.edu 37 12 109972579 109972579 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:109972579C>G uc001top.2 + 28 3802 c.3199C>G c.(3199-3201)CTC>GTC p.L1067V UBE3B_uc001toq.2_Missense_Mutation_p.L1067V|UBE3B_uc001tos.2_Missense_Mutation_p.L494V|UBE3B_uc001tot.2_Missense_Mutation_p.L185V|UBE3B_uc010sxp.1_3'UTR NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1067 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GGGCTTTGAACTCTCCTAGCT 0.607 NA 15 58 0 0 0.003163 0 0 MMAB 326625 broad.mit.edu 37 12 110002929 110002929 + Nonsense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:110002929G>A uc001tou.2 - 4 416 c.343C>T c.(343-345)CAG>TAG p.Q115* MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Nonsense_Mutation_p.Q24*|MMAB_uc001tox.2_Nonsense_Mutation_p.Q63* NM_052845 NP_443077 Q96EY8 MMAB_HUMAN cob(I)alamin adenosyltransferase precursor 115 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity 0 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTCACTTTCTGAAGCTCTTCG 0.408 NA 41 153 0 0 0.002852 0 0 TRPV4 59341 broad.mit.edu 37 12 110236656 110236656 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:110236656C>T uc001tpj.1 - 5 1010 c.915G>A c.(913-915)ACG>ACA p.T305T TRPV4_uc001tpg.1_Silent_p.T271T|TRPV4_uc001tph.1_Silent_p.T258T|TRPV4_uc001tpi.1_Silent_p.T258T|TRPV4_uc001tpk.1_Silent_p.T305T|TRPV4_uc001tpl.1_Silent_p.T305T NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 305 Cytoplasmic (Potential).|ANK 2. actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GGGGGTTCTCCGTCAGGTAGT 0.647 NA 23 50 0 0 0.00278 0 0 UNC119B 84747 broad.mit.edu 37 12 121154530 121154530 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:121154530C>T uc001tyz.2 + 3 905 c.458C>T c.(457-459)ACA>ATA p.T153I NM_001080533 NP_001074002 A6NIH7 U119B_HUMAN unc-119 homolog B 153 haematopoietic_and_lymphoid_tissue(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CGCCTCCGGACAGTCGGGGCT 0.542 NA 28 138 0 0 0.004656 0 0 KNTC1 9735 broad.mit.edu 37 12 123075220 123075220 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:123075220G>T uc001ucv.2 + 41 4229 c.4066G>T c.(4066-4068)GAT>TAT p.D1356Y KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1356 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ACCTCAAAAAGATGTGTTTGA 0.393 NA 29 95 1.55811e-20 2.00859e-20 0.008361 1 0 DDX55 57696 broad.mit.edu 37 12 124094491 124094491 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:124094491A>T uc001ufi.2 + 7 581 c.557A>T c.(556-558)AAC>ATC p.N186I DDX55_uc001ufh.2_Missense_Mutation_p.N39I|DDX55_uc001ufj.1_Missense_Mutation_p.N39I|DDX55_uc001ufk.2_Missense_Mutation_p.N39I NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 186 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) ATCAGCATCAACACCATTCTG 0.473 NA 19 58 0 0 0.008871 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834534 125834534 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:125834534G>T uc001uhe.1 + 2 597 c.589G>T c.(589-591)GGC>TGC p.G197C NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 197 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GTTCAGCTCAGGCCTGGACCT 0.652 NA 9 61 2.17888e-05 2.36934e-05 0.006214 1 0 FZD10 11211 broad.mit.edu 37 12 130647987 130647987 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:130647987C>T uc001uii.2 + 1 956 c.500C>T c.(499-501)CCG>CTG p.P167L uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 167 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CTGTTCCCGCCGCTGTTCCGG 0.612 NA 10 18 0 0 0.000978 0 0 EP400 57634 broad.mit.edu 37 12 132466666 132466666 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:132466666G>A uc001ujn.2 + 4 1607 c.1572G>A c.(1570-1572)GCG>GCA p.A524A EP400_uc001ujl.2_Silent_p.A523A|EP400_uc001ujm.2_Silent_p.A524A|EP400_uc001ujj.1_Silent_p.A487A|EP400_uc001ujk.2_Silent_p.A560A NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 560 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CGCAGGCCGCGCAGCTCGCTG 0.607 NA 14 237 0 0 0.001855 0 0 EP400 57634 broad.mit.edu 37 12 132546759 132546759 + Silent SNP G G A rs145021676 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:132546759G>A uc001ujn.2 + 45 8024 c.7989G>A c.(7987-7989)ACG>ACA p.T2663T EP400_uc001ujl.2_Silent_p.T2662T|EP400_uc001ujm.2_Silent_p.T2582T|EP400_uc001ujp.2_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2699 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCATGGCAACGACTCAGGGTG 0.687 NA 19 52 0 0 0.007413 0 0 PABPC3 5042 broad.mit.edu 37 13 25671457 25671457 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:25671457G>A uc001upy.2 + 1 1182 c.1121G>A c.(1120-1122)CGC>CAC p.R374H NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 374 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAAGAAGAGCGCCAGGCTTAC 0.493 NA 5 71 0 0 0.000602 0 0 TRPC4 7223 broad.mit.edu 37 13 38237797 38237797 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:38237797C>A uc001uws.2 - 6 1679 c.1444G>T c.(1444-1446)GCT>TCT p.A482S TRPC4_uc010abv.2_Missense_Mutation_p.A62S|TRPC4_uc001uwt.2_Missense_Mutation_p.A482S|TRPC4_uc010tey.1_Missense_Mutation_p.A482S|TRPC4_uc010abw.2_Missense_Mutation_p.A309S|TRPC4_uc010abx.2_Missense_Mutation_p.A482S|TRPC4_uc010aby.2_Missense_Mutation_p.A482S NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 482 Helical; (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTTGCAATAGCAAATAAAGCC 0.453 NA 6 31 8.12818e-05 8.69429e-05 0.001984 1 0 KBTBD7 84078 broad.mit.edu 37 13 41767970 41767970 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:41767970G>C uc001uxw.1 - 1 733 c.424C>G c.(424-426)CAG>GAG p.Q142E uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 142 protein binding ovary(1) 1 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) TACAGGCGCTGCACATTGGCC 0.607 NA 6 38 0 0 0.001984 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767974 41767974 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:41767974A>G uc001uxw.1 - 1 729 c.420T>C c.(418-420)AAT>AAC p.N140N uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 140 protein binding ovary(1) 1 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GGCGCTGCACATTGGCCTCAC 0.602 NA 6 37 0 0 0.001984 0 0 MTRF1 9617 broad.mit.edu 37 13 41814395 41814395 + Splice_Site SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:41814395A>G uc001uxx.2 - 8 1340 c.870_splice c.e8+1 p.E290_splice MTRF1_uc001uxy.2_Splice_Site_p.E290_splice|MTRF1_uc001uxz.2_Splice_Site_p.E126_splice|MTRF1_uc010tff.1_Splice_Site_p.E303_splice|MTRF1_uc001uyc.1_Splice_Site_p.E290_splice NM_004294 NP_004285 O75570 RF1M_HUMAN mitochondrial translational release factor 1 regulation of translational termination mitochondrion translation release factor activity, codon specific 0 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) TCCTGAGGTTACCTCATCTGG 0.493 NA 23 79 0 0 0.00333 0 0 AKAP11 11215 broad.mit.edu 37 13 42874407 42874407 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:42874407A>T uc001uys.1 + 8 1700 c.1525A>T c.(1525-1527)ACT>TCT p.T509S NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 509 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TACCCACCATACTAATACCCT 0.294 NA 15 55 0 0 0.00499 0 0 CDADC1 81602 broad.mit.edu 37 13 49823042 49823042 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:49823042A>G uc001vcu.2 + 2 194 c.118A>G c.(118-120)ACT>GCT p.T40A CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_5'UTR|CDADC1_uc010tgk.1_5'UTR|CDADC1_uc001vcv.2_RNA NM_030911 NP_112173 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 40 hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) CAACCTTTTCACTCTGCTCAG 0.413 NA 47 109 0 0 0.00361 0 0 LOC220429 220429 broad.mit.edu 37 13 50466114 50466114 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:50466114G>T uc001vdk.2 + 1 1570 c.1388G>T c.(1387-1389)TGT>TTT p.C463F NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 CATGATAATTGTTTGGCAGCA 0.313 NA 5 22 1.23904e-05 1.35089e-05 0.000602 1 0 LOC220429 220429 broad.mit.edu 37 13 50467031 50467031 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:50467031T>C uc001vdk.2 + 1 2487 c.2305T>C c.(2305-2307)TCC>CCC p.S769P NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 ACCTGGATTTTCCCCCCCTAC 0.522 NA 15 62 0 0 0.007413 0 0 ATP7B 540 broad.mit.edu 37 13 52511720 52511720 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:52511720C>A uc001vfw.2 - 18 3952 c.3795G>T c.(3793-3795)GTG>GTT p.V1265V ATP7B_uc010adv.2_Silent_p.V835V|ATP7B_uc001vfx.2_Silent_p.V1058V|ATP7B_uc001vfy.2_Silent_p.V1154V|ATP7B_uc010tgt.1_Silent_p.V1200V|ATP7B_uc010tgu.1_Silent_p.V1217V|ATP7B_uc010tgv.1_Silent_p.V1187V|ATP7B_uc001vfv.2_Silent_p.V537V|ATP7B_uc010tgs.1_Silent_p.V476V NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1265 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCCCATCCCCCACCATGGCGA 0.602 NA Wilson_disease 17 74 1.67942e-08 1.94706e-08 0.006122 1 0 KLHL1 57626 broad.mit.edu 37 13 70681664 70681664 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:70681664C>A uc001vip.2 - 1 962 c.168G>T c.(166-168)CTG>CTT p.L56L KLHL1_uc010thm.1_Silent_p.L56L|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 56 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGCTTTTGAGCAGGCGACTCT 0.483 NA 14 46 1.99824e-07 2.28265e-07 0.00499 1 0 MYCBP2 23077 broad.mit.edu 37 13 77754433 77754433 + Silent SNP C C A rs61753811 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:77754433C>A uc001vkf.2 - 35 4939 c.4848G>T c.(4846-4848)GGG>GGT p.G1616G MYCBP2_uc010aev.2_Silent_p.G1020G NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGCTTGTCATCCCTGAGATAT 0.408 NA 19 84 1.22574e-08 1.42506e-08 0.002299 1 0 MYCBP2 23077 broad.mit.edu 37 13 77847731 77847731 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:77847731A>G uc001vkf.2 - 6 798 c.707T>C c.(706-708)TTA>TCA p.L236S MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AAGTGCTGTTAAGGACTGTCC 0.448 NA 25 83 0 0 0.005443 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453836 84453836 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:84453836C>A uc001vlk.2 - 1 2693 c.1807G>T c.(1807-1809)GGG>TGG p.G603W NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 603 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) GAGTGCGTCCCGGTCTCCGCC 0.582 NA 13 9 0.00244969 0.00255871 0.00245 1 0 SLITRK1 114798 broad.mit.edu 37 13 84454373 84454373 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:84454373C>T uc001vlk.2 - 1 2156 c.1270G>A c.(1270-1272)GAC>AAC p.D424N NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 424 LRR 9.|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) CACCTGAGGTCCAAAAGGTTC 0.468 NA 45 157 0 0 0.003214 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368858 86368858 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:86368858T>C uc001vll.1 - 2 2245 c.1786A>G c.(1786-1788)ACT>GCT p.T596A SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 596 Extracellular (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) CGTAAAATAGTATCAGCCGTA 0.413 NA 31 73 0 0 0.002096 0 0 GPC6 10082 broad.mit.edu 37 13 94482464 94482464 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:94482464G>A uc001vlt.2 + 3 1009 c.377G>A c.(376-378)CGG>CAG p.R126Q GPC6_uc010tig.1_Missense_Mutation_p.R126Q|GPC6_uc001vlu.1_Missense_Mutation_p.R56Q NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 126 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) ATGTTTGTACGGACCTATGGC 0.403 NA 10 60 0 0 0.006214 0 0 DCT 1638 broad.mit.edu 37 13 95121241 95121241 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:95121241G>A uc001vlv.3 - 2 781 c.354C>T c.(352-354)TGC>TGT p.C118C DCT_uc010afh.2_Silent_p.C118C NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 118 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TCTTCCGCTCGCAGTTGGGAC 0.498 NA 41 176 0 0 0.002852 0 0 IPO5 3843 broad.mit.edu 37 13 98641412 98641412 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:98641412T>A uc001vnf.1 + 4 526 c.461T>A c.(460-462)ATT>AAT p.I154N IPO5_uc001vne.2_Missense_Mutation_p.I172N|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.I94N NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 154 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 GCCCTTCACATTTTCTGGTAT 0.373 NA 13 20 0 0 0.001368 0 0 SLC15A1 6564 broad.mit.edu 37 13 99368211 99368211 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:99368211A>G uc001vno.2 - 9 721 c.644T>C c.(643-645)GTG>GCG p.V215A NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 215 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) AAGGACAAACACAACTAGATA 0.468 NA 15 50 0 0 0.006122 0 0 TM9SF2 9375 broad.mit.edu 37 13 100204544 100204544 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:100204544G>A uc001voj.1 + 13 1585 c.1452G>A c.(1450-1452)CTG>CTA p.L484L TM9SF2_uc010afz.1_Silent_p.L319L NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 484 Helical; (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CTGTGCCTCTGACGTTTATTG 0.398 NA 12 94 0 0 0.001855 0 0 NALCN 259232 broad.mit.edu 37 13 101795488 101795488 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:101795488G>A uc001vox.1 - 17 2250 c.2061C>T c.(2059-2061)TCC>TCT p.S687S NALCN_uc001voy.2_Silent_p.S402S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 687 Cytoplasmic (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) GGTCGCAGGAGGAGGAAGAGG 0.463 NA 24 70 0 0 0.00333 0 0 NALCN 259232 broad.mit.edu 37 13 101795498 101795498 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:101795498G>A uc001vox.1 - 17 2240 c.2051C>T c.(2050-2052)ACC>ATC p.T684I NALCN_uc001voy.2_Missense_Mutation_p.T399I NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 684 Cytoplasmic (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) GGAGGAAGAGGTGGTCGGGAG 0.468 NA 20 60 0 0 0.008871 0 0 C13orf39 196541 broad.mit.edu 37 13 103338753 103338753 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:103338753A>T uc001vpj.2 - 4 429 c.423T>A c.(421-423)GAT>GAA p.D141E C13orf39_uc001vpk.2_Missense_Mutation_p.D141E NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN hypothetical protein LOC196541 141 methyltransferase activity 0 CATCAGGCAAATCTGTTGCTG 0.423 NA 14 56 0 0 0.003163 0 0 ERCC5 2073 broad.mit.edu 37 13 103515012 103515012 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:103515012A>C uc001vpw.2 + 8 1956 c.1513A>C c.(1513-1515)AGT>CGT p.S505R ERCC5_uc001vpu.1_Missense_Mutation_p.S959R|ERCC5_uc010tjb.1_Missense_Mutation_p.S505R|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.S337R NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 505 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GCCTCTGGAGAGTGCAGTGGT 0.468 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 14 53 0 0 0.00245 0 0 ATP11A 23250 broad.mit.edu 37 13 113530213 113530213 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:113530213C>T uc001vsi.3 + 28 3373 c.3285C>T c.(3283-3285)GTC>GTT p.V1095V ATP11A_uc001vsj.3_Silent_p.V1095V|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1095 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TCAAGAAAGTCCTGTGCCGGC 0.642 NA 25 67 0 0 0.005443 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114077278 114077278 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr13:114077278C>A uc001vtq.1 - 7 1011 c.924G>T c.(922-924)ACG>ACT p.T308T ADPRHL1_uc001vtp.1_Silent_p.T226T NM_138430 NP_612439 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 isoform 1 308 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CAATGGTGCCCGTGGCCGCGC 0.647 NA 8 90 0.000157383 0.000167912 0.00308 1 0 OR4M1 441670 broad.mit.edu 37 14 20248712 20248712 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:20248712A>T uc010tku.1 + 1 231 c.231A>T c.(229-231)ACA>ACT p.T77T NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTCCATTACAGCCCCTAAAA 0.438 NA 57 413 0 0 0.00361 0 0 OR4K15 81127 broad.mit.edu 37 14 20444032 20444032 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:20444032G>C uc010tkx.1 + 1 355 c.355G>C c.(355-357)GAT>CAT p.D119H NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 119 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TATTTCTTTTGATGCCTGCCT 0.433 NA 38 147 0 0 0.004878 0 0 G2E3 55632 broad.mit.edu 37 14 31077152 31077152 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:31077152C>T uc001wqk.2 + 12 1531 c.1377C>T c.(1375-1377)CAC>CAT p.H459H G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Silent_p.H413H NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 459 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 CTTTAGTTCACGGTGGTCCTT 0.348 NA 10 42 0 0 0.00245 0 0 HECTD1 25831 broad.mit.edu 37 14 31597942 31597942 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:31597942C>T uc001wrc.1 - 25 5124 c.4635G>A c.(4633-4635)TTG>TTA p.L1545L HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.L1013L NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1545 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CAAAACTCTCCAAGCTAGATG 0.458 NA 11 46 0 0 0.000978 0 0 HEATR5A 25938 broad.mit.edu 37 14 31778294 31778294 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:31778294A>T uc001wrf.3 - 23 3734 c.3657T>A c.(3655-3657)CTT>CTA p.L1219L HEATR5A_uc010ami.2_Silent_p.L1117L NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1506 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CCGTGCTTGTAAGCCACAATG 0.463 NA 48 131 0 0 0.00361 0 0 SRP54 6729 broad.mit.edu 37 14 35468792 35468792 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:35468792G>C uc001wso.2 + 3 458 c.107G>C c.(106-108)TGT>TCT p.C36S SRP54_uc010tpp.1_Intron|SRP54_uc010tpq.1_Intron NM_003136 NP_003127 P61011 SRP54_HUMAN signal recognition particle 54kDa isoform 1 36 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) AAAGAAGTCTGTACCGCTTTG 0.303 NA 6 91 0 0 0.001168 0 0 LRFN5 145581 broad.mit.edu 37 14 42356095 42356095 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:42356095T>C uc001wvm.2 + 3 1465 c.267T>C c.(265-267)TTT>TTC p.F89F LRFN5_uc010ana.2_Silent_p.F89F NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 89 Extracellular (Potential).|LRR 2. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CAATAAGTTTTATTACACCTC 0.363 NA HNSCC(30;0.082) 14 64 0 0 0.004007 0 0 MDGA2 161357 broad.mit.edu 37 14 47504297 47504297 + Nonsense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:47504297G>T uc001wwj.3 - 8 1725 c.1529C>A c.(1528-1530)TCA>TAA p.S510* MDGA2_uc001wwi.3_Nonsense_Mutation_p.S281*|MDGA2_uc010ani.2_Nonsense_Mutation_p.S70* NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 510 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GTACATTCCTGACATTTCCCT 0.423 NA 22 105 2.89027e-11 3.49756e-11 0.002299 1 0 C14orf104 55172 broad.mit.edu 37 14 50100073 50100073 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:50100073C>T uc001wws.3 - 1 1876 c.1795G>A c.(1795-1797)GCA>ACA p.A599T SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.A599T NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 599 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) GGAGATTTTGCCAGTTCTATC 0.383 NA Kartagener_syndrome 14 39 0 0 0.00245 0 0 SOS2 6655 broad.mit.edu 37 14 50666524 50666524 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:50666524G>A uc001wxs.3 - 4 493 c.395C>T c.(394-396)GCT>GTT p.A132V SOS2_uc010tql.1_Missense_Mutation_p.A132V NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 132 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) CTCTAGTACAGCCACAATATA 0.318 NA 20 122 0 0 0.001882 0 0 TXNDC16 57544 broad.mit.edu 37 14 52957649 52957649 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:52957649A>T uc001wzs.2 - 10 1280 c.831T>A c.(829-831)GTT>GTA p.V277V TXNDC16_uc010tqu.1_Silent_p.V272V|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 277 cell redox homeostasis extracellular region 0 Breast(41;0.0716) CCTGTTGGCTAACAATAAAAA 0.388 NA 15 58 0 0 0.003163 0 0 TXNDC16 57544 broad.mit.edu 37 14 52957674 52957674 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:52957674A>G uc001wzs.2 - 10 1255 c.806T>C c.(805-807)CTG>CCG p.L269P TXNDC16_uc010tqu.1_Missense_Mutation_p.L264P|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 269 cell redox homeostasis extracellular region 0 Breast(41;0.0716) TGGTAAGCCCAGTTGGAGATG 0.388 NA 11 56 0 0 0.000978 0 0 KIAA0586 9786 broad.mit.edu 37 14 58965577 58965577 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:58965577T>C uc001xdv.3 + 26 4112 c.3839T>C c.(3838-3840)ATG>ACG p.M1280T KIAA0586_uc010trr.1_Missense_Mutation_p.M1397T|KIAA0586_uc001xdt.3_Missense_Mutation_p.M1312T|KIAA0586_uc001xdu.3_Missense_Mutation_p.M1341T|KIAA0586_uc010trs.1_Missense_Mutation_p.M1271T|KIAA0586_uc010trt.1_Missense_Mutation_p.M1216T NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 1280 ovary(1) 1 AACATCTTAATGGGACATTCT 0.413 NA 9 31 0 0 0.006214 0 0 PRKCH 5583 broad.mit.edu 37 14 62014573 62014573 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:62014573G>A uc001xfn.2 + 13 2179 c.1874G>A c.(1873-1875)CGC>CAC p.R625H PRKCH_uc010tsa.1_Missense_Mutation_p.R464H|PRKCH_uc010tsb.1_Missense_Mutation_p.R193H|PRKCH_uc001xfo.2_RNA NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 625 AGC-kinase C-terminal. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) CTGAACCATCGCCAAATAGAA 0.522 Melanoma(135;863 1779 8064 14443 26348) NA 58 196 0 0 0.00361 0 0 SYNE2 23224 broad.mit.edu 37 14 64580082 64580082 + Silent SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:64580082T>G uc001xgm.2 + 66 12863 c.12633T>G c.(12631-12633)GCT>GCG p.A4211A SYNE2_uc001xgl.2_Silent_p.A4211A|SYNE2_uc010apy.2_Silent_p.A596A|SYNE2_uc010apz.1_Silent_p.A103A NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4211 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTATTGAGGCTGACACTCTGG 0.552 NA 10 53 0 0 0.000978 0 0 ZBTB25 7597 broad.mit.edu 37 14 64957119 64957119 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:64957119A>G uc001xhf.2 - 2 316 c.133T>C c.(133-135)TTT>CTT p.F45L ZBTB25_uc001xhc.2_Missense_Mutation_p.F45L|ZBTB25_uc001xhg.2_Missense_Mutation_p.F45L NM_006977 NP_008908 P24278 ZBT25_HUMAN zinc finger protein 46 45 BTB. cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TAGTTAGAAAAAGCAGCAAGC 0.338 NA 19 58 0 0 0.008871 0 0 PCNX 22990 broad.mit.edu 37 14 71575562 71575562 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:71575562C>T uc001xmo.2 + 34 6989 c.6543C>T c.(6541-6543)AGC>AGT p.S2181S PCNX_uc010are.1_Silent_p.S2070S|PCNX_uc010arf.1_Silent_p.S969S|PCNX_uc001xmp.2_Silent_p.S265S NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 2181 Ser-rich. integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGGTCAGAGCGGCCTGGCCT 0.567 NA 5 48 0 0 0.001168 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72054904 72054904 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:72054904C>G uc001xms.2 + 2 663 c.315C>G c.(313-315)TGC>TGG p.C105W SIPA1L1_uc001xmt.2_Missense_Mutation_p.C105W|SIPA1L1_uc001xmu.2_Missense_Mutation_p.C105W|SIPA1L1_uc001xmv.2_Missense_Mutation_p.C105W NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 105 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CCTCAAGTTGCCTTGATAGCC 0.463 NA 22 110 0 0 0.001882 0 0 COQ6 51004 broad.mit.edu 37 14 74428590 74428590 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:74428590C>T uc001xph.2 + 11 1441 c.1361C>T c.(1360-1362)GCA>GTA p.A454V ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.A379V|COQ6_uc001xpf.2_Missense_Mutation_p.A379V|COQ6_uc010tuk.1_Missense_Mutation_p.A429V|COQ6_uc001xpg.2_Intron NM_182476 NP_872282 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 homolog isoform a 454 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.00337) GCCACAAATGCAGTGTCTCCA 0.393 NA 15 131 0 0 0.004007 0 0 C14orf115 55237 broad.mit.edu 37 14 74824469 74824469 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:74824469G>A uc001xpw.3 + 2 1174 c.983G>A c.(982-984)GGC>GAC p.G328D NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 328 transposition, DNA-mediated DNA binding|transposase activity p.V329fs*25(2) 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) CACCGGGGGGGCGTCGTGCCA 0.657 NA 7 64 0 0 0.008291 0 0 SNW1 22938 broad.mit.edu 37 14 78198920 78198920 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:78198920G>A uc001xuf.2 - 9 826 c.799C>T c.(799-801)CGT>TGT p.R267C SNW1_uc010tvm.1_Missense_Mutation_p.R192C|SNW1_uc010asu.2_Missense_Mutation_p.R105C|SNW1_uc010tvn.1_Missense_Mutation_p.R267C NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 267 SNW. negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GCAGCCAGACGTTTGTCTAAT 0.388 NA 4 56 0 0 0.009096 0 0 EML5 161436 broad.mit.edu 37 14 89220988 89220988 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:89220988C>T uc001xxg.2 - 3 411 c.225G>A c.(223-225)TTG>TTA p.L75L NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 75 WD 1. cytoplasm|microtubule ovary(3) 3 CTGTTGCTACCAACACTCGTT 0.333 NA 4 9 0 0 0.000602 0 0 C14orf102 55051 broad.mit.edu 37 14 90769341 90769341 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:90769341C>A uc001xyi.1 - 6 1165 c.1134G>T c.(1132-1134)CAG>CAT p.Q378H C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.1_Missense_Mutation_p.Q147H NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 378 Potential. protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) CCACACTGCTCTGGTTGCTCT 0.522 NA 6 83 0.00116845 0.00122973 0.001168 1 0 C14orf184 650662 broad.mit.edu 37 14 92040779 92040779 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:92040779G>A uc010aua.1 - 1 605 c.178C>T c.(178-180)CCC>TCC p.P60S NM_001080113 NP_001073582 Q8WYT3 CN184_HUMAN hypothetical protein LOC650662 60 0 CGCCGCTCGGGTGTACTGTTC 0.657 NA 5 9 0 0 0.001984 0 0 DICER1 23405 broad.mit.edu 37 14 95572020 95572020 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:95572020T>C uc001ydw.2 - 20 3270 c.3088A>G c.(3088-3090)AAA>GAA p.K1030E DICER1_uc010avh.1_Translation_Start_Site|DICER1_uc001ydv.2_Missense_Mutation_p.K1020E|DICER1_uc001ydx.2_Missense_Mutation_p.K1030E|DICER1_uc001ydy.1_5'Flank NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1030 PAZ. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ATTACCTGTTTATTCTGCAGA 0.333 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 17 40 0 0 0.004007 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103416123 103416123 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:103416123G>A uc001ymi.1 - 26 3660 c.3428C>T c.(3427-3429)GCG>GTG p.A1143V CDC42BPB_uc001ymj.1_Missense_Mutation_p.A245V NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1143 PH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GACTTGGCTCGCAATGACACC 0.517 NA 6 74 0 0 0.00308 0 0 TDRD9 122402 broad.mit.edu 37 14 104508420 104508420 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:104508420G>T uc001yom.3 + 34 3900 c.3870G>T c.(3868-3870)AGG>AGT p.R1290S TDRD9_uc001yon.3_Missense_Mutation_p.R837S NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 1290 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) ATATTCTCAGGGCTGCTATTA 0.433 NA 20 28 1.15919e-05 1.26716e-05 0.008871 1 0 Unknown 0 broad.mit.edu 37 15 20666449 20666449 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:20666449A>G uc001ytg.2 - 7 889 c.180T>C c.(178-180)TGT>TGC p.C60C uc010tyx.1_RNA|uc001yth.3_Silent_p.C60C|uc010tyy.1_Silent_p.C60C|uc010tyz.1_Intron RecName: Full=Putative HERC2-like protein 3; NA TCTTACTGGCACATTCAATCT 0.378 NA 5 50 0 0 0.004482 0 0 OR4M2 390538 broad.mit.edu 37 15 22369029 22369029 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:22369029G>T uc010tzu.1 + 1 454 c.454G>T c.(454-456)GGC>TGC p.G152C LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTGGAGGGGGGGCTTCATTCA 0.502 NA 14 269 7.93312e-07 8.86685e-07 0.00245 1 0 OR4N4 283694 broad.mit.edu 37 15 22382941 22382941 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:22382941A>G uc001yuc.1 + 7 1450 c.469A>G c.(469-471)ATT>GTT p.I157V LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.I157V NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGTCCACTCCATTATCCAGGT 0.537 NA 20 125 0 0 0.004656 0 0 Unknown 0 broad.mit.edu 37 15 22440403 22440403 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:22440403T>C uc001yug.2 - 1 463 c.444A>G c.(442-444)AAA>AAG p.K148K full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). NA TTTCATGATATTTCTTCTGAA 0.483 NA 3 17 0 0 0.009096 0 0 NDN 4692 broad.mit.edu 37 15 23931868 23931868 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:23931868G>A uc001ywk.2 - 1 583 c.497C>T c.(496-498)GCG>GTG p.A166V NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 166 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TTTGACCAGCGCAAACTCCAT 0.632 NA Prader-Willsyndrome 9 28 0 0 0.006214 0 0 MTMR15 22909 broad.mit.edu 37 15 31197648 31197648 + Missense_Mutation SNP C C T rs137920161 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:31197648C>T uc001zff.2 + 2 1073 c.782C>T c.(781-783)GCG>GTG p.A261V MTMR15_uc001zfc.3_Missense_Mutation_p.A261V|MTMR15_uc010azw.2_Missense_Mutation_p.A261V|MTMR15_uc001zfd.3_Missense_Mutation_p.A261V|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 261 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) TCAGATAATGCGATCATGTTA 0.403 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 13 38 0 0 0.001855 0 0 RYR3 6263 broad.mit.edu 37 15 33873837 33873837 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:33873837A>T uc001zhi.2 + 14 1636 c.1566A>T c.(1564-1566)AAA>AAT p.K522N RYR3_uc010bar.2_Missense_Mutation_p.K522N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 522 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) TCCTCTACAAATTGCTGGGTA 0.458 NA 7 60 0 0 0.00308 0 0 GPR176 11245 broad.mit.edu 37 15 40093574 40093574 + Missense_Mutation SNP G G A rs150836804 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:40093574G>A uc001zkj.1 - 3 2173 c.1307C>T c.(1306-1308)CCG>CTG p.P436L GPR176_uc010uck.1_Missense_Mutation_p.P376L NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 436 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) AGGGGCTGCCGGTGCCACCTG 0.577 NA 35 82 0 0 0.003755 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40284431 40284431 + Splice_Site SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:40284431G>A uc001zkm.1 + 17 2736 c.2686_splice c.e17+1 p.G896_splice EIF2AK4_uc010bbj.1_Splice_Site_p.G597_splice|EIF2AK4_uc001zkn.1_5'UTR NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GACCCTTCAGGTAAACCCAGA 0.348 NA 18 37 0 0 0.010504 0 0 UBR1 197131 broad.mit.edu 37 15 43378291 43378291 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:43378291A>T uc001zqq.2 - 2 295 c.229T>A c.(229-231)TAC>AAC p.Y77N UBR1_uc010udk.1_Missense_Mutation_p.Y77N NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 77 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) CCAAATAAGTACCATTCCAGT 0.413 NA 25 65 0 0 0.003954 0 0 MAP1A 4130 broad.mit.edu 37 15 43814596 43814596 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:43814596A>G uc001zrt.2 + 4 1392 c.925A>G c.(925-927)AAG>GAG p.K309E NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 309 Lys-rich (basic). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TACCAACCTCAAGCCCAGCAA 0.572 NA 4 32 0 0 0.000602 0 0 DUOXA1 90527 broad.mit.edu 37 15 45412380 45412380 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:45412380G>T uc001zuq.1 - 5 722 c.693C>A c.(691-693)ACC>ACA p.T231T DUOXA1_uc010uem.1_Silent_p.T186T|DUOXA1_uc001zup.2_Silent_p.T231T|DUOXA1_uc010bec.2_Silent_p.T231T|DUOXA1_uc001zur.1_Silent_p.T186T|DUOXA1_uc010bed.1_Silent_p.T186T NM_144565 NP_653166 Q1HG43 DOXA1_HUMAN Numb-interacting protein 231 Extracellular (Potential). protein transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) GACAGGGTGAGGTGAGTGATG 0.562 NA 12 114 1.05317e-09 1.25014e-09 0.00245 1 0 FBN1 2200 broad.mit.edu 37 15 48755289 48755289 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:48755289G>A uc001zwx.1 - 42 5542 c.5214C>T c.(5212-5214)ATC>ATT p.I1738I FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1738 TB 7. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CTGTACTTGGGATGGGACACT 0.428 NA 23 92 0 0 0.00333 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499746 59499746 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:59499746C>T uc002agb.2 + 1 705 c.607C>T c.(607-609)CCC>TCC p.P203S MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 203 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) GAGTGCATTTCCCAAAAACCG 0.418 NA 34 97 0 0 0.002836 0 0 ZNF609 23060 broad.mit.edu 37 15 64792230 64792230 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:64792230G>A uc002ann.2 + 1 612 c.612G>A c.(610-612)GTG>GTA p.V204V ZNF609_uc010bgy.2_Silent_p.V204V NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 204 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GTGCAGGGGTGGATACAGGAG 0.567 NA 6 31 0 0 0.001168 0 0 THSD4 79875 broad.mit.edu 37 15 71952986 71952986 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:71952986A>G uc002atb.1 + 7 1349 c.1270A>G c.(1270-1272)AGC>GGC p.S424G THSD4_uc002atd.1_Missense_Mutation_p.S98G|THSD4_uc010ukg.1_Missense_Mutation_p.S64G|THSD4_uc002ate.2_Missense_Mutation_p.S64G NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 424 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TGCCCTCACCAGCCTGGGCTA 0.542 NA 9 76 0 0 0.004482 0 0 PARP6 56965 broad.mit.edu 37 15 72553991 72553991 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:72553991C>A uc002auc.2 - 8 912 c.453G>T c.(451-453)AAG>AAT p.K151N PARP6_uc002aua.2_Missense_Mutation_p.K16N|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.K151N NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 151 NAD+ ADP-ribosyltransferase activity 0 CCTGCTGGGTCTTCAAGAAAT 0.483 NA 46 301 8.00217e-19 1.02099e-18 0.00361 1 0 ARIH1 25820 broad.mit.edu 37 15 72873113 72873113 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:72873113T>C uc002aut.3 + 12 1571 c.1257T>C c.(1255-1257)AAT>AAC p.N419N NM_005744 NP_005735 Q9Y4X5 ARI1_HUMAN ariadne ubiquitin-conjugating enzyme E2 binding 419 ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding 0 TCTACTGTAATCGCTATATGA 0.433 NA 11 25 0 0 0.000978 0 0 ADPGK 83440 broad.mit.edu 37 15 73048687 73048687 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:73048687T>C uc002avg.3 - 5 839 c.745A>G c.(745-747)AGC>GGC p.S249G ADPGK_uc002ave.3_5'UTR|ADPGK_uc010ukw.1_Missense_Mutation_p.S191G|ADPGK_uc002avf.3_Missense_Mutation_p.S249G|ADPGK_uc002avi.3_Missense_Mutation_p.S127G|ADPGK_uc002avh.3_Missense_Mutation_p.S10G NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 249 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding 0 TCCTCCAGGCTAGACACAAAC 0.537 NA 13 66 0 0 0.001368 0 0 CLK3 1198 broad.mit.edu 37 15 74919983 74919983 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:74919983A>G uc010uln.1 + 9 1921 c.1460A>G c.(1459-1461)CAC>CGC p.H487R CLK3_uc002ayg.3_Missense_Mutation_p.H339R|CLK3_uc002ayh.3_Missense_Mutation_p.H118R|CLK3_uc002ayj.3_Missense_Mutation_p.H316R|CLK3_uc002ayk.3_Missense_Mutation_p.H266R|CLK3_uc002ayl.3_Missense_Mutation_p.H172R NM_001130028 NP_001123500 P49761 CLK3_HUMAN CDC-like kinase 3 isoform a 487 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2) 2 GCCACCCGTCACTATCGCCCG 0.547 Ovarian(133;694 1754 28950 29027 31859) NA 24 94 0 0 0.005443 0 0 MESP2 145873 broad.mit.edu 37 15 90319996 90319996 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:90319996G>A uc002bon.2 + 1 408 c.408G>A c.(406-408)TCG>TCA p.S136S MESP2_uc010uqa.1_Intron NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog 136 Helix-loop-helix motif. Notch signaling pathway nucleus DNA binding 0 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) GCCACCTATCGGCCGTGCTGG 0.721 NA 8 9 0 0 0.008291 0 0 IQGAP1 8826 broad.mit.edu 37 15 91035793 91035793 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:91035793G>T uc002bpl.1 + 35 4579 c.4478G>T c.(4477-4479)CGG>CTG p.R1493L IQGAP1_uc010uqg.1_Missense_Mutation_p.R114L NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1493 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CGGAATCAGCGGAGGTACCGA 0.428 NA 14 18 4.3838e-07 4.96219e-07 0.001855 1 0 IQGAP1 8826 broad.mit.edu 37 15 91038012 91038012 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:91038012G>A uc002bpl.1 + 36 4797 c.4696G>A c.(4696-4698)GCA>ACA p.A1566T IQGAP1_uc010uqg.1_Missense_Mutation_p.A187T NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1566 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) ATATACAGCAGCAAGACTACA 0.308 NA 13 78 0 0 0.003163 0 0 LRRK1 79705 broad.mit.edu 37 15 101606267 101606267 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:101606267C>T uc002bwr.2 + 32 5944 c.5625C>T c.(5623-5625)TGC>TGT p.C1875C LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1875 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCACCGACTGCGAGGACTCAG 0.642 NA 10 83 0 0 0.008291 0 0 AXIN1 8312 broad.mit.edu 37 16 347134 347134 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:347134G>A uc002cgp.1 - 7 2054 c.1877C>T c.(1876-1878)GCG>GTG p.A626V AXIN1_uc002cgq.1_Missense_Mutation_p.A626V NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 626 Interaction with RNF111.|Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GTTCTTCTCCGCATCCTCCGA 0.617 NA 39 191 0 0 0.00874 0 0 C16orf79 283870 broad.mit.edu 37 16 2260194 2260194 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:2260194G>A uc010bsh.2 - 3 446 c.269C>T c.(268-270)GCG>GTG p.A90V C16orf79_uc002cpi.1_Missense_Mutation_p.A90V NM_182563 NP_872369 Q6PL45 CP079_HUMAN hypothetical protein LOC283870 90 integral to membrane central_nervous_system(1) 1 GATGGTCGCCGCGTTCCGGGC 0.677 NA 3 7 0 0 0.004672 0 0 PKMYT1 9088 broad.mit.edu 37 16 3025598 3025598 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:3025598A>G uc002csn.2 - 4 1037 c.594T>C c.(592-594)TGT>TGC p.C198C PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.C198C|PKMYT1_uc002cso.2_Silent_p.C129C|PKMYT1_uc002csp.2_Silent_p.C189C|PKMYT1_uc002csq.2_Silent_p.C189C|PKMYT1_uc010bsy.1_Silent_p.C189C NM_004203 NP_004194 Q99640 PMYT1_HUMAN protein kinase Myt1 isoform 1 198 Protein kinase. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 CCCAGGCCTCACAGTGTTGCT 0.706 NA 6 14 0 0 0.001168 0 0 ZNF75A 7627 broad.mit.edu 37 16 3363159 3363159 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:3363159G>A uc002cut.3 + 4 610 c.84G>A c.(82-84)GAG>GAA p.E28E ZNF75A_uc002cuv.3_Intron NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 AAAACTATGAGACTGTCATCT 0.428 NA 13 36 0 0 0.00245 0 0 CREBBP 1387 broad.mit.edu 37 16 3777990 3777990 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:3777990C>A uc002cvv.2 - 31 7262 c.7058G>T c.(7057-7059)CGG>CTG p.R2353L CREBBP_uc002cvw.2_Missense_Mutation_p.R2315L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2353 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGACTGGGGCCGTGGAGACTG 0.657 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybsyndrome 27 67 1.55811e-20 2.00859e-20 0.008361 1 0 PPL 5493 broad.mit.edu 37 16 4941903 4941903 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:4941903T>C uc002cyd.1 - 16 1967 c.1877A>G c.(1876-1878)GAG>GGG p.E626G NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 626 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GGCCAGCAACTCCCAGCTCTG 0.627 NA 10 124 0 0 0.008291 0 0 ABCC1 4363 broad.mit.edu 37 16 16215926 16215926 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:16215926T>C uc010bvi.2 + 24 3660 c.3485T>C c.(3484-3486)GTC>GCC p.V1162A ABCC1_uc010bvj.2_Missense_Mutation_p.V1103A|ABCC1_uc010bvk.2_Missense_Mutation_p.V1106A|ABCC1_uc010bvl.2_Missense_Mutation_p.V1162A|ABCC1_uc010bvm.2_Missense_Mutation_p.V1047A|ABCC1_uc002del.3_Missense_Mutation_p.V1056A NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1162 Cytoplasmic.|ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTGCTGGGGGTCAGCGTCATT 0.612 NA 13 42 0 0 0.001368 0 0 XYLT1 64131 broad.mit.edu 37 16 17353197 17353197 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:17353197A>G uc002dfa.2 - 3 646 c.561T>C c.(559-561)AGT>AGC p.S187S NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 187 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CCTTCTGTCTACTCGGTGGCT 0.537 NA 31 93 0 0 0.002096 0 0 GPR139 124274 broad.mit.edu 37 16 20043764 20043764 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:20043764T>C uc002dgu.1 - 2 517 c.355A>G c.(355-357)ACT>GCT p.T119A GPR139_uc010vaw.1_Missense_Mutation_p.T26A NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 119 Helical; Name=3; (Potential). integral to membrane|plasma membrane ovary(2) 2 AACGGTACAGTAATCCATATG 0.493 NA 7 87 0 0 0.001984 0 0 PDILT 204474 broad.mit.edu 37 16 20386170 20386170 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:20386170G>C uc002dhc.1 - 5 878 c.655C>G c.(655-657)CTT>GTT p.L219V NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 219 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 ACGCTGTCAAGGGTGACGTGG 0.383 NA 21 82 0 0 0.002299 0 0 ACSM5 54988 broad.mit.edu 37 16 20442632 20442632 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:20442632A>G uc002dhe.2 + 10 1444 c.1297A>G c.(1297-1299)AAT>GAT p.N433D NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 433 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CTGTTTCTTCAATTGCTATTT 0.383 NA 17 65 0 0 0.008871 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + Silent SNP G G A rs150520281 by1000genomes TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:21817457G>A uc010vbl.1 - 7 603 c.106C>T c.(106-108)CTG>TTG p.L36L uc002diq.3_Intron NR_003370 SubName: Full=Putative uncharacterized protein ENSP00000219758; 0 CTTACATCCAGCTTGAGTAGT 0.254 NA 5 15 0 0 0.000602 0 0 EEF2K 29904 broad.mit.edu 37 16 22277709 22277709 + Splice_Site SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:22277709A>C uc002dki.2 + 14 1926 c.1441_splice c.e14-2 p.V481_splice EEF2K_uc002dkh.2_Splice_Site NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) CTTTCCCTTCAGGTATGTGTA 0.612 NSCLC(195;1411 2157 20319 27471 51856) NA 15 171 0 0 0.004007 0 0 USP31 57478 broad.mit.edu 37 16 23096295 23096295 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:23096295A>G uc002dll.2 - 11 1716 c.1716T>C c.(1714-1716)ACT>ACC p.T572T USP31_uc010bxm.2_5'UTR NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 572 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) ACTCATCCTCAGTATTTACAA 0.408 NA 43 190 0 0 0.00361 0 0 PLK1 5347 broad.mit.edu 37 16 23693478 23693479 + Splice_Site DNP GG GG TT TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:23693478_23693479GG>TT uc002dlz.1 + 4 869 c.816_splice c.e4+1 p.K272_splice NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) GTATTCCCAAGGTGACTAATGA 0.411 Colon(12;240 564 27038 33155) NA 10 56 0 0 0.004672 0 0 SETD1A 9739 broad.mit.edu 37 16 30976134 30976134 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:30976134T>C uc002ead.1 + 7 1757 c.1071T>C c.(1069-1071)TCT>TCC p.S357S NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 357 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 cctcgtcctcTCAGTTTCGTA 0.393 NA 54 151 0 0 0.00361 0 0 PYCARD 29108 broad.mit.edu 37 16 31213972 31213972 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:31213972T>C uc010cak.2 - 1 280 c.40A>G c.(40-42)AAC>GAC p.N14D PYCARD_uc002ebm.2_Missense_Mutation_p.N14D NM_013258 NP_037390 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing isoform a 14 DAPIN. induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding 0 GCGGTCAGGTTCTCCAGCGCA 0.716 NA 14 50 0 0 0.003163 0 0 TOX3 27324 broad.mit.edu 37 16 52484375 52484375 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:52484375C>T uc002egw.2 - 4 663 c.492G>A c.(490-492)GCG>GCA p.A164A TOX3_uc010vgt.1_Silent_p.A159A|TOX3_uc010vgu.1_Silent_p.A164A NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 164 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 CCCCAGAACGCGCAGCATCGG 0.582 NA 31 118 0 0 0.002445 0 0 MMP2 4313 broad.mit.edu 37 16 55532222 55532222 + Nonsense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:55532222C>A uc002ehz.3 + 11 1942 c.1631C>A c.(1630-1632)TCA>TAA p.S544* MMP2_uc010vhd.1_Nonsense_Mutation_p.S468*|MMP2_uc010ccc.2_Nonsense_Mutation_p.S494*|MMP2_uc002eia.3_Nonsense_Mutation_p.S41* NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 544 Required for inhibitor TIMP2 binding.|Hemopexin-like 2. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGGATCTACTCAGCCAGCACC 0.587 NA 17 40 9.16793e-09 1.06787e-08 0.00499 1 0 SLC6A2 6530 broad.mit.edu 37 16 55690629 55690629 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:55690629C>T uc002eif.2 + 2 134 c.23C>T c.(22-24)CCG>CTG p.P8L SLC6A2_uc010ccd.2_Missense_Mutation_p.P8L|SLC6A2_uc002eig.2_Missense_Mutation_p.P8L|SLC6A2_uc002eih.2_Missense_Mutation_p.P8L NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 8 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CGGATGAACCCGCAGGTGCAG 0.652 NA 13 34 0 0 0.003163 0 0 CDH11 1009 broad.mit.edu 37 16 65022183 65022183 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:65022183A>G uc002eoi.2 - 7 1310 c.876T>C c.(874-876)GCT>GCC p.A292A CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.A292A|CDH11_uc010vin.1_Silent_p.A166A NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 292 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTGGATCTTTAGCTTTCACTC 0.408 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 25 87 0 0 0.004656 0 0 AP1G1 164 broad.mit.edu 37 16 71772945 71772945 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:71772945C>A uc010cgg.2 - 21 2482 c.2168G>T c.(2167-2169)CGG>CTG p.R723L AP1G1_uc002fba.2_Missense_Mutation_p.R726L|AP1G1_uc002fbb.2_Missense_Mutation_p.R746L|AP1G1_uc002faz.2_Missense_Mutation_p.R140L NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 723 GAE. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) GGTATTTGACCGTTCAAAGGT 0.443 NA 40 100 6.5261e-18 8.29262e-18 0.00874 1 0 AP1G1 164 broad.mit.edu 37 16 71807199 71807199 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:71807199G>A uc010cgg.2 - 4 707 c.393C>T c.(391-393)TCC>TCT p.S131S AP1G1_uc002fba.2_Silent_p.S131S|AP1G1_uc002fbb.2_Silent_p.S154S|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.S213S NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 131 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) ACATCTCTGAGGAGCCCATGC 0.438 NA 14 52 0 0 0.003163 0 0 ZFHX3 463 broad.mit.edu 37 16 72993377 72993377 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:72993377C>A uc002fck.2 - 2 1341 c.668G>T c.(667-669)GGG>GTG p.G223V ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 223 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGGGCTGAGCCCCGCCAGGGC 0.562 NA 27 81 2.79863e-10 3.34117e-10 0.004656 1 0 MON1B 22879 broad.mit.edu 37 16 77229460 77229460 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:77229460G>A uc002fez.2 + 5 1654 c.1324G>A c.(1324-1326)GAG>AAG p.E442K MON1B_uc010vnf.1_Missense_Mutation_p.E333K|MON1B_uc010vng.1_Missense_Mutation_p.E296K|MON1B_uc002ffa.2_Missense_Mutation_p.E322K NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN MON1 homolog B 442 protein binding 0 CTACAGCAGAGAGGAGGAGCG 0.632 NA 15 29 0 0 0.004007 0 0 TAF1C 9013 broad.mit.edu 37 16 84213680 84213680 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:84213680G>A uc002fhn.2 - 13 1799 c.1571C>T c.(1570-1572)GCG>GTG p.A524V TAF1C_uc002fhm.2_Missense_Mutation_p.A430V|TAF1C_uc010vnx.1_Missense_Mutation_p.A498V|TAF1C_uc010vny.1_Missense_Mutation_p.A115V|TAF1C_uc010vnz.1_Missense_Mutation_p.A192V|TAF1C_uc002fho.2_Missense_Mutation_p.A47V|TAF1C_uc010voa.1_Missense_Mutation_p.A192V|TAF1C_uc002fhp.1_Intron NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 524 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 GGGCACCGACGCCCCTTCTCC 0.687 NA 10 19 0 0 0.00245 0 0 ANKRD11 29123 broad.mit.edu 37 16 89345689 89345689 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:89345689C>T uc002fmx.1 - 9 7722 c.7261G>A c.(7261-7263)GCC>ACC p.A2421T ANKRD11_uc002fmy.1_Missense_Mutation_p.A2421T|ANKRD11_uc002fnc.1_Missense_Mutation_p.A2421T|ANKRD11_uc002fna.1_Missense_Mutation_p.A86T|ANKRD11_uc002fnb.1_Missense_Mutation_p.A2378T NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2421 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGCTTGATGGCGTCCACGATG 0.612 NA 7 17 0 0 0.00308 0 0 SPG7 6687 broad.mit.edu 37 16 89598357 89598357 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:89598357G>A uc002fnj.2 + 8 1054 c.1033G>A c.(1033-1035)GCA>ACA p.A345T SPG7_uc002fni.2_Missense_Mutation_p.A345T NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 345 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CCCAAAGGGCGCACTGCTGCT 0.627 NA 6 57 0 0 0.001168 0 0 SPG7 6687 broad.mit.edu 37 16 89614444 89614444 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:89614444C>T uc002fnj.2 + 12 1607 c.1586C>T c.(1585-1587)GCG>GTG p.A529V SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_5'Flank NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 529 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) AATGAGGCTGCGCTGCACGCG 0.632 NA 26 106 0 0 0.008361 0 0 CPNE7 27132 broad.mit.edu 37 16 89661895 89661895 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:89661895G>A uc002fnp.2 + 16 1778 c.1648G>A c.(1648-1650)GCC>ACC p.A550T CPNE7_uc002fnq.2_Missense_Mutation_p.A475T NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 550 VWFA. lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CGTGGGCAACGCCGACTTCAC 0.677 NA 14 25 0 0 0.001855 0 0 FAM57A 79850 broad.mit.edu 37 17 641168 641168 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:641168T>A uc002frp.2 + 3 330 c.289T>A c.(289-291)TGC>AGC p.C97S FAM57A_uc002frq.2_Missense_Mutation_p.C97S|FAM57A_uc002frr.2_Missense_Mutation_p.C7S NM_024792 NP_079068 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 97 TLC.|Helical; (Potential). integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) CTGTGAATGGTGCCGAACCAG 0.493 NA 18 99 0 0 0.008871 0 0 KIAA0664 23277 broad.mit.edu 37 17 2601632 2601632 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:2601632T>C uc002fuy.1 - 10 1491 c.1405A>G c.(1405-1407)ACG>GCG p.T469A KIAA0664_uc002fux.1_Missense_Mutation_p.T401A NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 469 binding breast(2) 2 GTGCCCAGCGTGTACAGCCCC 0.667 NA 5 18 0 0 0.000602 0 0 OR1A2 26189 broad.mit.edu 37 17 3100858 3100858 + Nonsense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:3100858G>T uc002fvd.1 + 1 46 c.46G>T c.(46-48)GGA>TGA p.G16* NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TATTCTCCTGGGAGTTACTAG 0.398 NA 19 37 0.00074312 0.000785422 0.006122 1 0 WSCD1 23302 broad.mit.edu 37 17 5984019 5984019 + Missense_Mutation SNP G G A rs148296936 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:5984019G>A uc010cli.2 + 2 420 c.41G>A c.(40-42)CGA>CAA p.R14Q WSCD1_uc002gcn.2_Missense_Mutation_p.R14Q|WSCD1_uc002gco.2_Missense_Mutation_p.R14Q|WSCD1_uc010clj.2_5'UTR NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 14 integral to membrane sulfotransferase activity 0 TTTCTCCGCCGAACACAGTTC 0.672 NA 4 38 0 0 0.009096 0 0 NLGN2 57555 broad.mit.edu 37 17 7320373 7320373 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:7320373G>A uc002ggt.1 + 7 1836 c.1763G>A c.(1762-1764)CGC>CAC p.R588H NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor 588 Extracellular (Potential). cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) CTGAAGCCACGCGTGCGTGAC 0.587 NA 4 27 0 0 0.009096 0 0 FXR2 9513 broad.mit.edu 37 17 7496106 7496106 + Silent SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:7496106G>C uc002gia.1 - 14 1862 c.1635C>G c.(1633-1635)CGC>CGG p.R545R MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank NM_004860 NP_004851 P51116 FXR2_HUMAN fragile X mental retardation syndrome related 545 Poly-Arg. cytosolic large ribosomal subunit protein binding|RNA binding 0 READ - Rectum adenocarcinoma(115;0.17) GGGAGCGGCGGCGCCTGGCAC 0.617 NA 4 33 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7578236 7578236 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:7578236A>G uc002gim.2 - 6 807 c.613T>C c.(613-615)TAT>CAT p.Y205H TP53_uc002gig.1_Missense_Mutation_p.Y205H|TP53_uc002gih.2_Missense_Mutation_p.Y205H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73H|TP53_uc010cng.1_Missense_Mutation_p.Y73H|TP53_uc002gii.1_Missense_Mutation_p.Y73H|TP53_uc010cnh.1_Missense_Mutation_p.Y205H|TP53_uc010cni.1_Missense_Mutation_p.Y205H|TP53_uc002gij.2_Missense_Mutation_p.Y205H|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112H|TP53_uc002gio.2_Missense_Mutation_p.Y73H|TP53_uc010vug.1_Missense_Mutation_p.Y166H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 205 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(53)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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) TCATCCAAATACTCCACACGC 0.542 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) 24 20 0 0 0.00632 0 0 WRAP53 55135 broad.mit.edu 37 17 7606341 7606341 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:7606341G>T uc010vuh.1 + 10 1454 c.1299G>T c.(1297-1299)ACG>ACT p.T433T WRAP53_uc010vui.1_Silent_p.T433T|WRAP53_uc002gip.2_Silent_p.T433T|WRAP53_uc002gir.2_Silent_p.T433T|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.T400T|EFNB3_uc002gis.2_5'Flank NM_001143990 NP_001137462 Q9BUR4 WAP53_HUMAN WD repeat domain 79 isoform 2 433 WD 6. positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding 0 GTGGCAGCACGAGCGGGGCTG 0.637 NA 10 32 0.000673444 0.000712385 0.008291 1 0 MYH8 4626 broad.mit.edu 37 17 10318842 10318842 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:10318842C>A uc002gmm.2 - 7 690 c.595G>T c.(595-597)GCA>TCA p.A199S uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 199 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 GCAATTGTTGCAAAGTATTGG 0.463 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 50 49 6.30371e-39 8.25454e-39 0.00361 1 0 TEKT3 64518 broad.mit.edu 37 17 15212074 15212074 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:15212074T>A uc002gon.2 - 8 1350 c.1163A>T c.(1162-1164)GAC>GTC p.D388V NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 388 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GGCAGTCTTGTCCTTGATGGC 0.517 NA 39 58 0 0 0.005524 0 0 TRIM16 10626 broad.mit.edu 37 17 15532258 15532258 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:15532258G>A uc002gox.2 - 9 1923 c.1366C>T c.(1366-1368)CGC>TGC p.R456C TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Missense_Mutation_p.R240C|TRIM16_uc002goy.2_Missense_Mutation_p.R326C NM_006470 NP_006461 O95361 TRI16_HUMAN tripartite motif-containing 16 456 B30.2/SPRY. histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) CAACTGTTGCGCTCCTCCCCT 0.552 NA 19 74 0 0 0.007413 0 0 NCOR1 9611 broad.mit.edu 37 17 15942809 15942809 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:15942809T>C uc002gpo.2 - 44 7133 c.6893A>G c.(6892-6894)AAC>AGC p.N2298S NCOR1_uc002gpn.2_Missense_Mutation_p.N2195S|NCOR1_uc002gpl.2_Missense_Mutation_p.N313S|NCOR1_uc002gpm.2_Missense_Mutation_p.N818S|NCOR1_uc010vwb.1_Missense_Mutation_p.N882S|NCOR1_uc010coy.2_Missense_Mutation_p.N1206S NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2298 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AACTGAGGTGTTGGCAGTACC 0.488 NA 7 44 0 0 0.00308 0 0 TAOK1 57551 broad.mit.edu 37 17 27849414 27849414 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:27849414T>C uc002hdz.1 + 17 2219 c.2025T>C c.(2023-2025)TGT>TGC p.C675C TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Silent_p.C675C NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 675 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) AGATGCGCTGTGAGTTGATCA 0.448 NA 16 82 0 0 0.00499 0 0 SLFN13 146857 broad.mit.edu 37 17 33772338 33772338 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:33772338C>T uc002hjk.1 - 1 692 c.362G>A c.(361-363)GGT>GAT p.G121D SLFN13_uc010wch.1_Missense_Mutation_p.G121D|SLFN13_uc002hjl.2_Missense_Mutation_p.G121D|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_Intron NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 121 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ATTGAAAGAACCATCTTTAAG 0.393 NA 26 37 0 0 0.003954 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34499264 34499264 + Silent SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:34499264T>G uc002hky.2 - 7 597 c.447A>C c.(445-447)ATA>ATC p.I149I uc002hla.1_5'Flank|uc002hlc.2_5'Flank NM_001001417 NP_001001417 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3B 149 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATGTCCCGCTTATGTCCCGGT 0.547 NA 35 408 0 0 0.00361 0 0 SYNRG 11276 broad.mit.edu 37 17 35928998 35928998 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:35928998T>C uc002hoa.2 - 11 1459 c.1376A>G c.(1375-1377)CAG>CGG p.Q459R SYNRG_uc010wde.1_Missense_Mutation_p.Q381R|SYNRG_uc010wdf.1_Missense_Mutation_p.Q381R|SYNRG_uc002hoc.2_Missense_Mutation_p.Q380R|SYNRG_uc002hoe.2_Missense_Mutation_p.Q381R|SYNRG_uc002hod.2_Missense_Mutation_p.Q381R|SYNRG_uc010wdg.1_Missense_Mutation_p.Q298R|SYNRG_uc002hob.2_Missense_Mutation_p.Q459R|SYNRG_uc002hof.2_Missense_Mutation_p.Q171R|SYNRG_uc010cvd.1_Missense_Mutation_p.Q259R|SYNRG_uc002hog.1_Missense_Mutation_p.Q593R NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 459 DFXDF motif 1. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 TTGAAAATCCTGGAAGTCATC 0.363 NA 17 78 0 0 0.007413 0 0 GPR179 440435 broad.mit.edu 37 17 36495347 36495347 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:36495347G>T uc002hpz.2 - 2 877 c.856C>A c.(856-858)CCA>ACA p.P286T NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 286 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TACCAGCCTGGGCCACTTGCA 0.552 NA 24 57 7.92952e-12 9.65198e-12 0.003954 1 0 LASP1 3927 broad.mit.edu 37 17 37074986 37074986 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:37074986C>T uc002hra.2 + 7 1072 c.741C>T c.(739-741)ACC>ACT p.T247T LASP1_uc010cvq.2_Missense_Mutation_p.P125L|LASP1_uc010wdz.1_Silent_p.T191T NM_006148 NP_006139 Q14847 LASP1_HUMAN LIM and SH3 protein 1 247 SH3. cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding lung(1) 1 TGGAGCGCACCGGCGACACGG 0.662 NA T MLL AML 24 86 0 0 0.00333 0 0 PNMT 5409 broad.mit.edu 37 17 37826287 37826287 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:37826287T>C uc002hsi.1 + 3 716 c.494T>C c.(493-495)CTG>CCG p.L165P NM_002686 NP_002677 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 165 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity ovary(1) 1 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCCCAGCCCCTGGGTGCTGGG 0.662 NA 5 64 0 0 0.000602 0 0 TNS4 84951 broad.mit.edu 37 17 38633940 38633940 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:38633940T>C uc010cxb.2 - 13 2212 c.2048A>G c.(2047-2049)GAG>GGG p.E683G TNS4_uc002huu.3_Missense_Mutation_p.E96G NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 683 Phosphatase tensin-type. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GCATACGTTCTCCTGAGGCTC 0.607 NA 5 83 0 0 0.001168 0 0 KRT38 8687 broad.mit.edu 37 17 39596688 39596688 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:39596688T>A uc002hwq.1 - 1 909 c.486A>T c.(484-486)CAA>CAT p.Q162H NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 162 Rod.|Coil 1B. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) TCACCTTCTGTTGGAGCTCCT 0.567 NA 15 91 0 0 0.003163 0 0 HAP1 9001 broad.mit.edu 37 17 39884470 39884470 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:39884470G>T uc002hxm.1 - 7 1195 c.1183C>A c.(1183-1185)CAG>AAG p.Q395K JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.Q395K|HAP1_uc002hxo.1_Missense_Mutation_p.Q403K|HAP1_uc002hxp.1_Missense_Mutation_p.Q395K NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 395 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CAGCGCTGCTGCAGCTTCAGC 0.632 NA 10 68 2.17888e-05 2.36934e-05 0.006214 1 0 DNAJC7 7266 broad.mit.edu 37 17 40135644 40135644 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:40135644T>G uc002hyo.2 - 10 1258 c.1021A>C c.(1021-1023)ACA>CCA p.T341P DNAJC7_uc010cxu.2_Missense_Mutation_p.T285P|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Missense_Mutation_p.T285P|DNAJC7_uc010wgc.1_Missense_Mutation_p.T199P|DNAJC7_uc002hyp.2_Missense_Mutation_p.T285P NM_003315 NP_003306 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 341 TPR 9. chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding ovary(1) 1 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) TACTGTTCTGTGTCCATGTAA 0.393 Colon(63;618 1117 8600 10857 19751) NA 6 14 0 0 0.001168 0 0 VPS25 84313 broad.mit.edu 37 17 40925499 40925499 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:40925499G>A uc002ibi.2 + 1 46 c.6G>A c.(4-6)GCG>GCA p.A2A NM_032353 NP_115729 Q9BRG1 VPS25_HUMAN vacuolar protein sorting 25 2 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endosome membrane|nucleoplasm 0 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) CTACGATGGCGATGAGTTTCG 0.617 NA 13 138 0 0 0.00245 0 0 DBF4B 80174 broad.mit.edu 37 17 42807349 42807349 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:42807349G>T uc002ihf.2 + 4 515 c.302G>T c.(301-303)GGG>GTG p.G101V DBF4B_uc002ihd.1_Missense_Mutation_p.G101V|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_Missense_Mutation_p.G85V|DBF4B_uc002ihg.2_Missense_Mutation_p.G85V NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 101 BRCT. cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) GAGAGCAGTGGGAAAAGCCAT 0.537 NA 5 83 5.9392e-07 6.67422e-07 0.001168 1 0 MAP3K14 9020 broad.mit.edu 37 17 43343939 43343939 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:43343939C>A uc002iiw.1 - 15 2652 c.2543G>T c.(2542-2544)CGG>CTG p.R848L LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.R378L|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.R432L NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 848 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 GGGCCGCCCCCGGGCCAGCAC 0.632 NA 17 124 5.3912e-06 5.9351e-06 0.006122 1 0 HSF5 124535 broad.mit.edu 37 17 56536135 56536135 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:56536135A>G uc002iwi.1 - 5 1838 c.1714T>C c.(1714-1716)TCC>CCC p.S572P NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 572 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTACCAGGGGACTTTCCTTGT 0.423 NA 9 63 0 0 0.004482 0 0 CLTC 1213 broad.mit.edu 37 17 57721770 57721770 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:57721770G>A uc002ixq.1 + 2 619 c.176G>A c.(175-177)AGT>AAT p.S59N CLTC_uc002ixp.2_Missense_Mutation_p.S59N|CLTC_uc002ixr.1_Missense_Mutation_p.S59N NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 59 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AATGACCCAAGTAATCCAATT 0.418 NA T ALK|TFE3 ALCL|renal 13 53 0 0 0.001855 0 0 CLTC 1213 broad.mit.edu 37 17 57725762 57725762 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:57725762G>T uc002ixq.1 + 4 1124 c.681G>T c.(679-681)AAG>AAT p.K227N CLTC_uc002ixp.2_Missense_Mutation_p.K227N|CLTC_uc002ixr.1_Missense_Mutation_p.K231N NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 227 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTGGAGGGAAGGTAAGTTTTG 0.383 NA T ALK|TFE3 ALCL|renal 23 114 2.98393e-07 3.39306e-07 0.00278 1 0 DHX40P1 653645 broad.mit.edu 37 17 58066671 58066671 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:58066671T>A uc002iyf.2 - 9 701 c.466A>T c.(466-468)ATT>TTT p.I156F uc002iye.1_Intron NR_002924 Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene, mRNA (cDNA clone IMAGE:5170263). 0 GCTTCTAAAATAAGTCTCTCA 0.318 NA 2 6 0 0 0.004672 0 0 USP32 84669 broad.mit.edu 37 17 58343443 58343443 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:58343443T>A uc002iyo.1 - 8 1107 c.821A>T c.(820-822)AAG>ATG p.K274M USP32_uc010wov.1_Missense_Mutation_p.K274M NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 274 EF-hand 3. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATCAAATACCTTGAAGCAAAC 0.368 NA 20 95 0 0 0.010504 0 0 TBX4 9496 broad.mit.edu 37 17 59560342 59560342 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:59560342G>A uc002izi.2 + 8 1148 c.1103G>A c.(1102-1104)CGT>CAT p.R368H TBX4_uc010ddo.2_Missense_Mutation_p.R369H|TBX4_uc010woy.1_Missense_Mutation_p.R369H NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 368 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 CACTATTTCCGTTCCCCCCCT 0.562 NA 20 30 0 0 0.010504 0 0 TANC2 26115 broad.mit.edu 37 17 61492920 61492920 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:61492920A>G uc002jal.3 + 23 3823 c.3800A>G c.(3799-3801)TAC>TGC p.Y1267C TANC2_uc010wpe.1_Missense_Mutation_p.Y1177C|TANC2_uc002jao.3_Missense_Mutation_p.Y378C NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 1267 TPR 1. binding ovary(2) 2 GCCCAGCGCTACCAGTACGCC 0.512 NA 3 31 0 0 0.009096 0 0 STRADA 92335 broad.mit.edu 37 17 61787867 61787867 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:61787867T>C uc002jbm.2 - 8 724 c.565A>G c.(565-567)ATG>GTG p.M189V STRADA_uc002jbn.2_Missense_Mutation_p.M131V|STRADA_uc002jbo.2_Missense_Mutation_p.M152V|STRADA_uc002jbp.2_Missense_Mutation_p.M152V|STRADA_uc002jbq.2_Missense_Mutation_p.M131V|STRADA_uc010wpq.1_Missense_Mutation_p.M145V|STRADA_uc010wpr.1_Missense_Mutation_p.M160V|STRADA_uc010ddw.2_Missense_Mutation_p.M160V|STRADA_uc002jbr.2_Missense_Mutation_p.M131V NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 189 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 ACATATCCCATGTGGTGGATG 0.498 NA 5 85 0 0 0.001168 0 0 GH1 2688 broad.mit.edu 37 17 61995822 61995822 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:61995822G>A uc002jdj.2 - 2 117 c.55C>T c.(55-57)CCC>TCC p.P19S GH1_uc002jdi.2_Missense_Mutation_p.P19S|GH1_uc002jdk.2_Missense_Mutation_p.P19S|GH1_uc002jdl.2_Missense_Mutation_p.P19S|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.P19S NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 19 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 TGAAGCCAGGGCAGGCAGAGC 0.612 NA 28 126 0 0 0.00632 0 0 SMURF2 64750 broad.mit.edu 37 17 62574681 62574681 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:62574681C>T uc002jep.1 - 9 1174 c.786G>A c.(784-786)ACG>ACA p.T262T SMURF2_uc002jeq.1_Silent_p.T21T|SMURF2_uc002jer.1_Silent_p.T21T NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 262 WW 2. Missing: Abolishes interaction with SMAD2 and SMAD7. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) GGCCTTGTTGCGTTGTCCTCT 0.373 NA 7 41 0 0 0.00308 0 0 RGS9 8787 broad.mit.edu 37 17 63221362 63221362 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:63221362G>A uc002jfe.2 + 18 1760 c.1650G>A c.(1648-1650)GGG>GGA p.G550G RGS9_uc010dem.2_Silent_p.G547G|RGS9_uc002jfd.2_Silent_p.G547G|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.G321G NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 550 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CCCCCCGTGGGCCCTCTGTCA 0.682 NA 19 119 0 0 0.007413 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267675 66267675 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:66267675G>A uc002jgz.1 - 5 814 c.626C>T c.(625-627)GCG>GTG p.A209V ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.A209V NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 209 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) TTTCGGTGACGCTGGTCCTCT 0.463 NA 16 89 0 0 0.00499 0 0 ABCA6 23460 broad.mit.edu 37 17 67082829 67082829 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:67082829C>A uc002jhw.1 - 30 4042 c.3867G>T c.(3865-3867)CAG>CAT p.Q1289H NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1289 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) AACTTTTCTTCTGGCCTGCAT 0.353 NA 16 63 5.01169e-05 5.40255e-05 0.00499 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171776 68171776 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:68171776C>T uc010dfg.2 + 2 997 c.596C>T c.(595-597)GCC>GTC p.A199V KCNJ2_uc002jir.2_Missense_Mutation_p.A199V NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 199 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) AGTCACAATGCCGTGATTGCC 0.512 NA 11 78 0 0 0.008291 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71282358 71282358 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:71282358C>A uc002jjn.2 - 2 429 c.282G>T c.(280-282)AGG>AGT p.R94S CDC42EP4_uc002jjo.2_Missense_Mutation_p.R94S|CDC42EP4_uc002jjp.1_Intron NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 94 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) CCCGCTCCCCCCTGGTCACCG 0.622 NA 18 69 5.3912e-06 5.9351e-06 0.006122 1 0 SDK2 54549 broad.mit.edu 37 17 71386573 71386573 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:71386573T>C uc010dfm.2 - 29 4045 c.4045A>G c.(4045-4047)ACT>GCT p.T1349A SDK2_uc002jjt.3_Missense_Mutation_p.T508A|SDK2_uc010dfn.2_Missense_Mutation_p.T1028A NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1349 Fibronectin type-III 8.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 ACCTCCACAGTGGCGGTGTTG 0.622 NA 3 25 0 0 0.004672 0 0 KIF19 124602 broad.mit.edu 37 17 72348278 72348278 + Splice_Site SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:72348278T>C uc002jkm.3 + 13 1996 c.1858_splice c.e13+2 p.D620_splice KIF19_uc002jkl.2_Splice_Site_p.D578_splice NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TCATCGACGGTAGGGCCCACG 0.721 NA 4 22 0 0 0.009096 0 0 C17orf77 146723 broad.mit.edu 37 17 72588262 72588262 + Missense_Mutation SNP C C T rs139741461 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:72588262C>T uc002jla.1 + 3 439 c.77C>T c.(76-78)CCG>CTG p.P26L CD300LD_uc002jkz.2_Intron NM_152460 NP_689673 Q96MU5 CQ077_HUMAN hypothetical protein LOC146723 26 extracellular region 0 CCAAGCCAGCCGCTGTCATTC 0.527 NA 13 89 0 0 0.00245 0 0 C17orf77 146723 broad.mit.edu 37 17 72588589 72588589 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:72588589A>T uc002jla.1 + 3 766 c.404A>T c.(403-405)GAA>GTA p.E135V CD300LD_uc002jkz.2_5'Flank NM_152460 NP_689673 Q96MU5 CQ077_HUMAN hypothetical protein LOC146723 135 extracellular region 0 TGTGGAAAAGAAAATGTGTCC 0.483 NA 18 107 0 0 0.008871 0 0 NUP85 79902 broad.mit.edu 37 17 73228076 73228076 + Splice_Site SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:73228076T>C uc002jng.1 + 14 1656 c.1396_splice c.e14+2 p.V466_splice NUP85_uc010dgd.1_Splice_Site_p.V421_splice|NUP85_uc010wrv.1_Splice_Site_p.V420_splice|NUP85_uc002jnh.1_Splice_Site_p.V69_splice NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CTGAACAAGGTGAGCTGGCCC 0.592 NA 4 33 0 0 0.009096 0 0 SLC25A19 60386 broad.mit.edu 37 17 73273474 73273474 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:73273474T>G uc002jns.3 - 5 1644 c.734A>C c.(733-735)CAG>CCG p.Q245P SLC25A19_uc010dge.2_Missense_Mutation_p.Q188P|SLC25A19_uc002jnv.3_Missense_Mutation_p.Q245P|SLC25A19_uc002jnu.3_Missense_Mutation_p.Q245P|SLC25A19_uc002jnw.3_Missense_Mutation_p.Q245P|SLC25A19_uc002jnt.3_Missense_Mutation_p.Q245P NM_021734 NP_068380 Q9HC21 TPC_HUMAN solute carrier family 25, member 19 245 Solcar 3.|Substrate recognition (By similarity). integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity ovary(1) 1 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) CCCTCCAACCTGTAGCCGCTT 0.567 NA 5 63 0 0 0.001168 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76972045 76972045 + Splice_Site SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:76972045A>T uc002jwh.2 - 3 423 c.244_splice c.e3+1 p.G82_splice LGALS3BP_uc002jwi.2_Intron|LGALS3BP_uc010dhr.2_Intron NM_005567 NP_005558 Q08380 LG3BP_HUMAN galectin 3 binding protein cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity central_nervous_system(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AGCAGGCCCTACCTTGCCCGA 0.622 GBM(89;1105 1755 18102 21513) NA 4 18 0 0 0.009096 0 0 AZI1 22994 broad.mit.edu 37 17 79180632 79180632 + Missense_Mutation SNP G G A rs146148645 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:79180632G>A uc002jzp.1 - 5 627 c.427C>T c.(427-429)CGG>TGG p.R143W AZI1_uc002jzn.1_Missense_Mutation_p.R143W|AZI1_uc002jzo.1_Missense_Mutation_p.R143W|AZI1_uc010wum.1_Missense_Mutation_p.R143W NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 143 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTGGAACTCCGGGCATTGGAT 0.632 NA 17 65 0 0 0.007413 0 0 TSPAN10 83882 broad.mit.edu 37 17 79612332 79612332 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:79612332C>T uc010die.2 + 2 441 c.351C>T c.(349-351)CCC>CCT p.P117P TSPAN10_uc002kaw.1_Silent_p.P117P|TSPAN10_uc010did.1_RNA NM_031945 NP_114151 Q9H1Z9 TSN10_HUMAN tetraspanin 10 117 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GGCCCCTGCCCGCAGACCCCA 0.687 NA 14 54 0 0 0.003163 0 0 CLUL1 27098 broad.mit.edu 37 18 633357 633357 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:633357G>T uc002kkp.2 + 6 1061 c.916G>T c.(916-918)GGG>TGG p.G306W CLUL1_uc010wys.1_Missense_Mutation_p.G358W|CLUL1_uc002kkq.2_Missense_Mutation_p.G306W NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 306 cell death extracellular region ovary(2) 2 AGGACTGTGTGGGGAACTTGA 0.403 NA 8 33 0.00307968 0.0032006 0.00308 1 0 C18orf8 29919 broad.mit.edu 37 18 21106650 21106650 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:21106650A>G uc010xax.1 + 14 1231 c.1110A>G c.(1108-1110)TTA>TTG p.L370L C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_5'UTR NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 370 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) TAAATCTCTTACCAGACAAAG 0.428 NA 8 56 0 0 0.00308 0 0 CABYR 26256 broad.mit.edu 37 18 21736785 21736785 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:21736785T>C uc002kux.2 + 4 1472 c.1320T>C c.(1318-1320)TCT>TCC p.S440S CABYR_uc010xbb.1_Silent_p.S342S|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Silent_p.S422S|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA NM_012189 NP_036321 O75952 CABYR_HUMAN calcium-binding tyrosine 440 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding 0 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) GGGAAAACTCTGTACCCCAGG 0.498 NA 12 67 0 0 0.000978 0 0 MCART2 147407 broad.mit.edu 37 18 29340530 29340530 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:29340530T>A uc002kxa.2 - 1 314 c.95A>T c.(94-96)AAG>ATG p.K32M NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN mitochondrial carrier triple repeat 2 32 Solcar 1. transport integral to membrane|mitochondrial inner membrane skin(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.0539) CAAGTAATGCTTCATTTCACC 0.413 NA 25 51 0 0 0.00278 0 0 KLHL14 57565 broad.mit.edu 37 18 30350097 30350097 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:30350097G>A uc002kxm.1 - 2 846 c.458C>T c.(457-459)ACG>ATG p.T153M NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 153 cytosol|endoplasmic reticulum membrane ovary(1) 1 CTCCTCCACCGTGTCCAGGGA 0.622 NA 8 76 0 0 0.00308 0 0 ASXL3 80816 broad.mit.edu 37 18 31319230 31319230 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:31319230C>G uc010dmg.1 + 11 1917 c.1862C>G c.(1861-1863)GCC>GGC p.A621G ASXL3_uc002kxq.2_Missense_Mutation_p.A328G NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 621 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CCAGAGGGAGCCTGTACCAGC 0.478 NA 23 15 0 0 0.003954 0 0 ASXL3 80816 broad.mit.edu 37 18 31325513 31325513 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:31325513C>A uc010dmg.1 + 12 5756 c.5701C>A c.(5701-5703)CTC>ATC p.L1901I ASXL3_uc002kxq.2_Missense_Mutation_p.L1608I NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1901 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AAAGCGGCTGCTCCCCTCGTG 0.493 NA 17 239 9.16793e-09 1.06787e-08 0.00499 1 0 ELP2 55250 broad.mit.edu 37 18 33736468 33736468 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:33736468T>C uc002kzk.1 + 13 1325 c.1315T>C c.(1315-1317)TAT>CAT p.Y439H ELP2_uc010xcg.1_Missense_Mutation_p.Y504H|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.Y413H|ELP2_uc010xch.1_Missense_Mutation_p.Y434H|ELP2_uc002kzn.1_Missense_Mutation_p.Y369H|ELP2_uc002kzo.1_Missense_Mutation_p.Y369H NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 439 WD 9. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 GATACATGGGTATGACCTGAA 0.378 NA 321 68 0 0 0.00361 0 0 HAUS1 115106 broad.mit.edu 37 18 43698246 43698246 + Missense_Mutation SNP C C T rs145196614 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:43698246C>T uc002lbu.2 + 3 385 c.305C>T c.(304-306)GCG>GTG p.A102V HAUS1_uc002lbv.2_Missense_Mutation_p.A26V NM_138443 NP_612452 Q96CS2 HAUS1_HUMAN coiled-coil domain containing 5 102 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole ovary(1) 1 GTTGACAGTGCGGTGGCCCTT 0.428 NSCLC(79;183 1423 5813 15597 38427) NA 5 72 0 0 0.000602 0 0 SMAD2 4087 broad.mit.edu 37 18 45372173 45372173 + Splice_Site SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:45372173T>A uc002lcy.2 - 9 1246 c.998_splice c.e9-1 p.G333_splice SMAD2_uc002lcz.2_Splice_Site_p.G333_splice|SMAD2_uc010xdc.1_Splice_Site_p.G303_splice|SMAD2_uc010xdd.1_Splice_Site_p.G303_splice NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 CTCCTCTTCCTGAAACAAAAT 0.348 NA 15 43 0 0 0.004007 0 0 ATP8B1 5205 broad.mit.edu 37 18 55342077 55342077 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:55342077A>G uc002lgw.2 - 15 1808 c.1808T>C c.(1807-1809)ATG>ACG p.M603T uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 603 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) AATGATAGACATTCGCTTCCG 0.473 NA Byler_disease 4 52 0 0 0.009096 0 0 SERPINB10 5273 broad.mit.edu 37 18 61602088 61602088 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:61602088C>A uc010xev.1 + 8 896 c.806C>A c.(805-807)ACC>AAC p.T269N SERPINB10_uc010xew.1_Missense_Mutation_p.T269N NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 269 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) AAGGCCATCACCTATGAGAAG 0.438 NA 16 44 1.33834e-09 1.5826e-09 0.007413 1 0 DOK6 220164 broad.mit.edu 37 18 67344982 67344982 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr18:67344982A>G uc002lkl.2 + 4 492 c.302A>G c.(301-303)GAG>GGG p.E101G NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 101 PH. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CTGGAGGCCGAGGAGTGGTGC 0.532 NA 5 61 0 0 0.001168 0 0 POLRMT 5442 broad.mit.edu 37 19 619702 619702 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:619702A>C uc002lpf.1 - 13 3006 c.2950T>G c.(2950-2952)TTC>GTC p.F984V NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 984 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGTGATGAAACCTTCCAGC 0.692 NA 14 180 0 0 0.004007 0 0 ABCA7 10347 broad.mit.edu 37 19 1047358 1047358 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:1047358C>T uc002lqw.3 + 15 2279 c.2048C>T c.(2047-2049)GCG>GTG p.A683V ABCA7_uc010dsb.1_Missense_Mutation_p.A545V NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 683 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCTGCCCGCGGGTGGCCGC 0.741 NA 6 12 0 0 0.001168 0 0 BTBD2 55643 broad.mit.edu 37 19 1987200 1987200 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:1987200T>G uc002lup.1 - 7 1234 c.1234A>C c.(1234-1236)ATC>CTC p.I412L BTBD2_uc002luo.1_Missense_Mutation_p.I91L NM_017797 NP_060267 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 412 cytoplasmic mRNA processing body protein binding ovary(1)|skin(1) 2 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCCGTGGATGGATCCATAC 0.597 NA 4 33 0 0 0.009096 0 0 AP3D1 8943 broad.mit.edu 37 19 2132509 2132509 + Silent SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:2132509T>G uc002luz.2 - 5 646 c.423A>C c.(421-423)CCA>CCC p.P141P AP3D1_uc002luy.2_Silent_p.P141P|AP3D1_uc002lva.2_Silent_p.P141P NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 141 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCAAGGTCTGGGGTGACGA 0.572 NA 29 114 0 0 0.002096 0 0 DIRAS1 148252 broad.mit.edu 37 19 2717219 2717219 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:2717219T>C uc002lwf.3 - 2 744 c.586A>G c.(586-588)ACC>GCC p.T196A NM_145173 NP_660156 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 196 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACATGAGGGTGCATTTGCCC 0.682 NA 8 104 0 0 0.004482 0 0 MLLT1 4298 broad.mit.edu 37 19 6222511 6222511 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:6222511G>A uc002mek.2 - 6 895 c.731C>T c.(730-732)GCG>GTG p.A244V NM_005934 NP_005925 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia 244 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding skin(1) 1 GGGCGGTGGCGCCTTCTCCTC 0.582 NA T MLL AL 10 15 0 0 0.006214 0 0 C3 718 broad.mit.edu 37 19 6718320 6718320 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:6718320C>G uc002mfm.2 - 3 433 c.371G>C c.(370-372)AGC>ACC p.S124T NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 124 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GCTCTGCAGGCTGACCAGCAC 0.632 NA 5 50 0 0 0.001168 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842180 8842180 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:8842180G>A uc010xkg.1 + 1 790 c.790G>A c.(790-792)GCC>ACC p.A264T NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 GGTGCCTTGCGCCTACCACAG 0.552 NA 12 107 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9028257 9028257 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:9028257A>T uc002mkp.2 - 11 36739 c.36535T>A c.(36535-36537)TAC>AAC p.Y12179N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12181 SEA 1.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCAGGGTGTAGGGGCCCAGC 0.567 NA 39 325 0 0 0.002522 0 0 MUC16 94025 broad.mit.edu 37 19 9062971 9062971 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:9062971T>C uc002mkp.2 - 3 24679 c.24475A>G c.(24475-24477)ACC>GCC p.T8159A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8161 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTAGAGGAGGTGACTTCTGTC 0.542 NA 17 77 0 0 0.00499 0 0 MUC16 94025 broad.mit.edu 37 19 9077354 9077354 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:9077354T>C uc002mkp.2 - 3 10296 c.10092A>G c.(10090-10092)ACA>ACG p.T3364T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3365 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TATTGGAAGATGTGCTCAGAG 0.473 NA 30 233 0 0 0.002096 0 0 MUC16 94025 broad.mit.edu 37 19 9085517 9085517 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:9085517C>A uc002mkp.2 - 1 6502 c.6298G>T c.(6298-6300)GCT>TCT p.A2100S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2100 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGCTTAGCAGCAGATGTGGAT 0.473 NA 29 198 8.88839e-20 1.14109e-19 0.002096 1 0 MUC16 94025 broad.mit.edu 37 19 9087193 9087193 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:9087193G>T uc002mkp.2 - 1 4826 c.4622C>A c.(4621-4623)ACA>AAA p.T1541K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1541 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCACGTGGTTGTCAGTGGGGT 0.473 NA 25 181 6.12954e-19 7.82869e-19 0.004656 1 0 OR7E24 26648 broad.mit.edu 37 19 9362502 9362502 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:9362502T>C uc002mlb.1 + 1 783 c.783T>C c.(781-783)TCT>TCC p.S261S NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 261 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CCTGTGGCTCTCACCTGGCAG 0.458 NA 10 24 0 0 0.008291 0 0 ZNF699 374879 broad.mit.edu 37 19 9406610 9406610 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:9406610G>A uc002mlc.1 - 5 1470 c.1470C>T c.(1468-1470)CTC>CTT p.L490L NM_198535 NP_940937 Q32M78 ZN699_HUMAN zinc finger protein 699 490 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGTGTTCGGTGAGGGATGAGG 0.448 NA 9 55 0 0 0.006214 0 0 ZNF426 79088 broad.mit.edu 37 19 9646885 9646885 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:9646885A>G uc002mlq.2 - 3 288 c.24T>C c.(22-24)CAT>CAC p.H8H ZNF426_uc010dws.2_Missense_Mutation_p.M1T|uc002mlr.2_5'Flank|uc002mls.2_5'Flank NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN zinc finger protein 426 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGAGCTTACCATGGGACAAAT 0.453 NA 10 41 0 0 0.004007 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10225288 10225288 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:10225288A>G uc002mna.2 + 13 2259 c.2259A>G c.(2257-2259)CGA>CGG p.R753R PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Silent_p.R333R NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GCTGCTGCCGACACTGCCCCG 0.662 NA 14 38 0 0 0.00245 0 0 CDC37 11140 broad.mit.edu 37 19 10506666 10506666 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:10506666G>A uc002mof.1 - 2 432 c.316C>T c.(316-318)CGC>TGC p.R106C CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.R106C|CDC37_uc002moh.2_Missense_Mutation_p.R106C NM_007065 NP_008996 Q16543 CDC37_HUMAN cell division cycle 37 protein 106 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) TCCTTCTTGCGCATCTCCTCC 0.682 NA 36 130 0 0 0.004878 0 0 LPPR2 64748 broad.mit.edu 37 19 11473281 11473281 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:11473281C>T uc002mre.1 + 7 1093 c.756C>T c.(754-756)GGC>GGT p.G252G LPPR2_uc002mrf.1_Silent_p.G227G|LPPR2_uc010dxy.1_Silent_p.G59G NM_022737 NP_073574 Q96GM1 LPPR2_HUMAN lipid phosphate phosphatase-related protein type 252 Helical; (Potential). integral to membrane phosphatidate phosphatase activity large_intestine(1) 1 TCCTGGTGGGCGTGGTCCGCG 0.657 Esophageal Squamous(164;1817 2610 12941 25548) NA 11 38 0 0 0.000978 0 0 ZNF625 90589 broad.mit.edu 37 19 12256520 12256520 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:12256520A>G uc002mth.2 - 4 863 c.513T>C c.(511-513)CAT>CAC p.H171H ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.H205H NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 171 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGTTCTTTCATGTATTCGAA 0.413 NA 21 81 0 0 0.001882 0 0 ZNF625 90589 broad.mit.edu 37 19 12256740 12256740 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:12256740T>A uc002mth.2 - 4 643 c.293A>T c.(292-294)GAT>GTT p.D98V ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.D132V NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 98 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCCTCACAATCATAAGGTTT 0.433 NA 25 85 0 0 0.00632 0 0 EPHX3 79852 broad.mit.edu 37 19 15341864 15341864 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:15341864A>G uc002nap.2 - 4 734 c.525T>C c.(523-525)GGT>GGC p.G175G EPHX3_uc002naq.2_Silent_p.G175G NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 175 extracellular region hydrolase activity 0 CAAGGAGGGCACCCCAGTCAT 0.577 NA 6 38 0 0 0.001168 0 0 AKAP8L 26993 broad.mit.edu 37 19 15514383 15514383 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:15514383C>A uc002naw.1 - 4 364 c.265G>T c.(265-267)GAT>TAT p.D89Y AKAP8L_uc002nax.1_Intron|AKAP8L_uc010xoh.1_Intron|AKAP8L_uc002nay.1_Missense_Mutation_p.D89Y|AKAP8L_uc002naz.2_5'Flank NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 89 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 AAAACGGAATCGGCACTGGCG 0.512 NA 7 72 8.12818e-05 8.69429e-05 0.001984 1 0 CYP4F22 126410 broad.mit.edu 37 19 15636257 15636257 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:15636257G>A uc002nbh.3 + 3 277 c.110G>A c.(109-111)CGC>CAC p.R37H NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 37 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 TTCCTGTTCCGCCTGCTGCTG 0.652 NA 5 63 0 0 0.000602 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769082 15769082 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:15769082T>C uc002nbj.2 + 10 1174 c.1124T>C c.(1123-1125)CTG>CCG p.L375P CYP4F3_uc010xok.1_Missense_Mutation_p.L375P|CYP4F3_uc010xol.1_Missense_Mutation_p.L375P|CYP4F3_uc010xom.1_Missense_Mutation_p.L226P|CYP4F3_uc002nbk.2_Missense_Mutation_p.L375P|CYP4F3_uc010xon.1_Missense_Mutation_p.L85P NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 375 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 AGGGACGACCTGGCCCAGCTG 0.562 NA 28 126 0 0 0.002445 0 0 C19orf44 84167 broad.mit.edu 37 19 16612359 16612359 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:16612359T>G uc002neh.1 + 2 829 c.756T>G c.(754-756)TTT>TTG p.F252L MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.F252L|C19orf44_uc002neg.2_Missense_Mutation_p.F252L|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 252 0 GAAAACTATTTTCGGTGAGAt 0.229 NA 7 12 0 0 0.004482 0 0 SIN3B 23309 broad.mit.edu 37 19 16980396 16980396 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:16980396G>C uc002ney.1 + 14 2042 c.2028G>C c.(2026-2028)CAG>CAC p.Q676H SIN3B_uc002nez.1_Missense_Mutation_p.Q644H|SIN3B_uc010xpi.1_Missense_Mutation_p.Q234H NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 676 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 TGAAGCGGCAGCCGGCCATCC 0.642 NA 6 49 0 0 0.001168 0 0 USE1 55850 broad.mit.edu 37 19 17330029 17330029 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:17330029G>A uc002nfo.2 + 7 490 c.430G>A c.(430-432)GCA>ACA p.A144T USE1_uc010eal.1_Intron NM_018467 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog 144 Cytoplasmic (Potential). lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding 0 CAGTGGAGTGGCAGGGTCCCA 0.493 NA 11 28 0 0 0.001855 0 0 ARMC6 93436 broad.mit.edu 37 19 19162560 19162560 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:19162560T>C uc002nld.2 + 5 757 c.409T>C c.(409-411)TAC>CAC p.Y137H ARMC6_uc002nlc.2_Missense_Mutation_p.Y112H|ARMC6_uc010xql.1_Missense_Mutation_p.Y44H|ARMC6_uc002nle.2_Missense_Mutation_p.Y112H|ARMC6_uc010xqm.1_Missense_Mutation_p.Y137H NM_033415 NP_219483 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 137 protein binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) GAAGGGGGCCTACCCCATCAT 0.637 NA 17 77 0 0 0.004007 0 0 HAPLN4 404037 broad.mit.edu 37 19 19369631 19369631 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:19369631C>A uc002nmb.2 - 4 573 c.518G>T c.(517-519)CGA>CTA p.R173L HAPLN4_uc002nmc.2_Missense_Mutation_p.R173L NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 173 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) CAGCTTGTATCGGCCTCCACG 0.701 NA 6 9 3.59834e-05 3.88908e-05 0.001168 1 0 TM6SF2 53345 broad.mit.edu 37 19 19381855 19381855 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:19381855C>A uc002nmd.1 - 2 225 c.175G>T c.(175-177)GTC>TTC p.V59F HAPLN4_uc002nmc.2_5'UTR NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 59 integral to membrane 0 Epithelial(12;0.0151) TCATAGGAGACCTCGCCATGG 0.587 NA 50 82 2.48254e-18 3.15775e-18 0.00361 1 0 ZNF93 81931 broad.mit.edu 37 19 20044841 20044841 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:20044841T>C uc002non.2 + 4 1188 c.1077T>C c.(1075-1077)CAT>CAC p.H359H NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 359 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 TTAGTAGACATGAGTTCATTC 0.373 NA 14 72 0 0 0.003163 0 0 ZNF536 9745 broad.mit.edu 37 19 30935669 30935669 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:30935669G>T uc002nsu.1 + 2 1338 c.1200G>T c.(1198-1200)TCG>TCT p.S400S ZNF536_uc010edd.1_Silent_p.S400S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 400 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) ACAAGCTGTCGGTGAAGAACA 0.612 NA 25 88 1.1804e-14 1.47431e-14 0.003954 1 0 ZNF536 9745 broad.mit.edu 37 19 31039043 31039043 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:31039043G>T uc002nsu.1 + 4 2655 c.2517G>T c.(2515-2517)AGG>AGT p.R839S ZNF536_uc010edd.1_Missense_Mutation_p.R839S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 839 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) ACATCCTGAGGGGGGCCTTCA 0.582 NA 38 92 5.43694e-19 6.95838e-19 0.005524 1 0 RHPN2 85415 broad.mit.edu 37 19 33486947 33486947 + Missense_Mutation SNP C C T rs143674321 by1000genomes TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:33486947C>T uc002nuf.2 - 11 1471 c.1405G>A c.(1405-1407)GCC>ACC p.A469T RHPN2_uc010xro.1_Missense_Mutation_p.A318T|RHPN2_uc002nue.2_Missense_Mutation_p.A199T NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 469 signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) ACACTGGGGGCGTCGATCAGG 0.627 NA 7 77 0 0 0.00308 0 0 UBA2 10054 broad.mit.edu 37 19 34949785 34949785 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:34949785C>T uc002nvk.2 + 13 1427 c.1357C>T c.(1357-1359)CGG>TGG p.R453W UBA2_uc010xrx.1_Missense_Mutation_p.R326W|UBA2_uc002nvl.2_Missense_Mutation_p.R357W NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 453 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GGTGACTGTGCGGCTGAATGT 0.458 NA 14 102 0 0 0.00245 0 0 ZNF792 126375 broad.mit.edu 37 19 35451185 35451185 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:35451185A>G uc002nxh.1 - 3 624 c.237T>C c.(235-237)GAT>GAC p.D79D NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTGATGTCATATCCACACTGT 0.537 GBM(1;7 183 21053 22581 22847) NA 10 31 0 0 0.000978 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36233696 36233696 + Nonsense_Mutation SNP G G A rs146316690 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:36233696G>A uc002obg.2 - 8 793 c.484C>T c.(484-486)CGA>TGA p.R162* TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_3'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.P157L|U2AF1L4_uc002obf.2_Nonsense_Mutation_p.R138*|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank Q8WU68 U2AF4_HUMAN Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650. Error:Variant_position_missing_in_Q8WU68_after_alignment mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATGGAACCTCGGGGGTGACCT 0.607 NA 12 69 0 0 0.001855 0 0 NPHS1 4868 broad.mit.edu 37 19 36342575 36342575 + Splice_Site SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:36342575C>T uc002oby.2 - 2 59 c.59_splice c.e2-1 p.G20_splice NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCGCCAGGCCTGAGGACACA 0.642 NA 5 6 0 0 0.001984 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644495 37644495 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:37644495C>T uc002ofo.1 - 5 537 c.306G>A c.(304-306)TGG>TGA p.W102* ZNF585A_uc002ofm.1_Nonsense_Mutation_p.W47*|ZNF585A_uc002ofn.1_Nonsense_Mutation_p.W47* NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATTATGGTCCCATAATTTCT 0.318 NA 25 114 0 0 0.003954 0 0 RASGRP4 115727 broad.mit.edu 37 19 38905617 38905617 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:38905617G>C uc002oir.2 - 9 1315 c.1101C>G c.(1099-1101)GAC>GAG p.D367E RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Intron|RASGRP4_uc010xub.1_Missense_Mutation_p.D333E|RASGRP4_uc010xuc.1_Intron|RASGRP4_uc010xud.1_Missense_Mutation_p.D270E|RASGRP4_uc010xue.1_Intron|RASGRP4_uc010egb.2_Missense_Mutation_p.D353E NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 367 Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAGGCAACCTGTCGGGCTGTG 0.682 NA 3 26 0 0 0.004672 0 0 PAK4 10298 broad.mit.edu 37 19 39664348 39664348 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:39664348G>A uc002okj.1 + 6 1257 c.796G>A c.(796-798)GCC>ACC p.A266T PAK4_uc002okl.1_Missense_Mutation_p.A266T|PAK4_uc002okn.1_Missense_Mutation_p.A266T|PAK4_uc002okm.1_Missense_Mutation_p.A113T|PAK4_uc002oko.1_Missense_Mutation_p.A113T|PAK4_uc002okp.1_Missense_Mutation_p.A176T NM_001014831 NP_001014831 O96013 PAK4_HUMAN p21-activated kinase 4 isoform 1 266 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity lung(3)|ovary(1) 4 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) GGGACCCCACGCCTCAGAGCC 0.756 NA 3 9 0 0 0.004672 0 0 PSMC4 5704 broad.mit.edu 37 19 40487098 40487098 + Splice_Site SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:40487098G>T uc002omq.2 + 11 1181 c.1144_splice c.e11-1 p.S382_splice PSMC4_uc002omr.2_Splice_Site_p.S351_splice NM_006503 NP_006494 P43686 PRS6B_HUMAN proteasome 26S ATPase subunit 4 isoform 1 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 mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding ovary(1) 1 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCCTTCAACAGAGTGGAATGT 0.313 Colon(105;1478 1543 4034 6132 38638) NA 6 53 0.00116845 0.00122973 0.001168 1 0 HIPK4 147746 broad.mit.edu 37 19 40895596 40895596 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:40895596C>T uc002onp.2 - 1 499 c.214G>A c.(214-216)GTC>ATC p.V72I NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 72 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) AAGCGGATGACGTGGGCCTCT 0.522 NA 15 163 0 0 0.00245 0 0 SPTBN4 57731 broad.mit.edu 37 19 40996054 40996054 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:40996054G>C uc002ony.2 + 4 480 c.394G>C c.(394-396)GAG>CAG p.E132Q SPTBN4_uc002onx.2_Missense_Mutation_p.E132Q|SPTBN4_uc002onz.2_Missense_Mutation_p.E132Q NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 132 CH 1.|Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTTTCTGAAGGAGCAGCGCGT 0.652 NA 4 54 0 0 0.009096 0 0 ADCK4 79934 broad.mit.edu 37 19 41211353 41211353 + Splice_Site SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:41211353C>G uc002oor.2 - 6 670 c.368_splice c.e6-1 p.E123_splice ADCK4_uc002ooq.1_Intron|ADCK4_uc002oos.2_Intron NM_024876 NP_079152 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 isoform a integral to membrane protein serine/threonine kinase activity 0 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) GAACCACCCTCTGGGGAGAGA 0.403 NA 13 50 0 0 0.001368 0 0 CYP2A6 1548 broad.mit.edu 37 19 41355874 41355874 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:41355874G>T uc002opl.3 - 2 213 c.192C>A c.(190-192)CGC>CGA p.R64R CYP2A6_uc010ehe.1_Intron|CYP2A6_uc010ehf.1_RNA NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 64 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CGGGGCCATAGCGCTCACTGA 0.617 NA 15 101 4.93089e-13 6.08535e-13 0.00245 1 0 GRIK5 2901 broad.mit.edu 37 19 42558011 42558011 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:42558011C>T uc002osj.1 - 9 1162 c.1127G>A c.(1126-1128)CGC>CAC p.R376H GRIK5_uc010eib.1_Missense_Mutation_p.R295H NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 376 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) TTCTAGGATGCGCAGGGTGTA 0.662 NA 4 39 0 0 0.000602 0 0 ZNF574 64763 broad.mit.edu 37 19 42584388 42584388 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:42584388A>T uc002osm.3 + 2 1799 c.1630A>T c.(1630-1632)ACA>TCA p.T544S ZNF574_uc002osk.3_Missense_Mutation_p.T634S NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 544 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) CCACCGGCTCACACACACAGG 0.647 NA 35 191 0 0 0.003271 0 0 PSG9 5678 broad.mit.edu 37 19 43763165 43763165 + Nonsense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:43763165G>A uc002owd.3 - 4 931 c.832C>T c.(832-834)CAG>TAG p.Q278* PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Nonsense_Mutation_p.Q185*|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 278 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) GGGAGGCTCTGACCGTTTAGC 0.478 NA 71 318 0 0 0.00361 0 0 ZNF230 7773 broad.mit.edu 37 19 44515277 44515277 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:44515277A>G uc002oyb.1 + 5 1337 c.1086A>G c.(1084-1086)AAA>AAG p.K362K NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) GTGGAGAAAAACCATACAGAT 0.438 GBM(175;914 2069 22996 47111 52600) NA 31 95 0 0 0.009535 0 0 ZNF230 7773 broad.mit.edu 37 19 44515285 44515285 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:44515285G>A uc002oyb.1 + 5 1345 c.1094G>A c.(1093-1095)AGA>AAA p.R365K NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 365 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) AAACCATACAGATGTGAGGAG 0.443 GBM(175;914 2069 22996 47111 52600) NA 29 102 0 0 0.007291 0 0 APOC1 341 broad.mit.edu 37 19 45419501 45419501 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:45419501A>G uc002pac.1 + 4 365 c.113A>G c.(112-114)AAG>AGG p.K38R APOC1_uc002pad.1_Missense_Mutation_p.K38R|APOC1_uc002pae.1_Missense_Mutation_p.K38R|APOC1_uc002paf.1_RNA NM_001645 NP_001636 P02654 APOC1_HUMAN apolipoprotein C-I precursor 38 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) GATAAGCTGAAGGAGTTTGGA 0.522 NA 7 80 0 0 0.00308 0 0 GRLF1 2909 broad.mit.edu 37 19 47424279 47424279 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:47424279C>T uc010ekv.2 + 1 2347 c.2347C>T c.(2347-2349)CGA>TGA p.R783* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 783 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TGTTGATCTGCGAATTGTTAT 0.423 NA 5 33 0 0 0.000602 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945587 48945587 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:48945587G>A uc002pjc.3 + 12 2709 c.2621G>A c.(2620-2622)CGG>CAG p.R874Q GRIN2D_uc010elx.2_Missense_Mutation_p.R109Q NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 874 Cytoplasmic (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGGCGCCTGCGGCACTGCCTG 0.532 NA 26 90 0 0 0.004656 0 0 CYTH2 9266 broad.mit.edu 37 19 48981711 48981711 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:48981711A>G uc002pjj.3 + 12 1277 c.977A>G c.(976-978)TAC>TGC p.Y326C CYTH2_uc002pji.2_RNA NM_017457 NP_059431 Q99418 CYH2_HUMAN cytohesin 2 isoform 1 326 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TTTGAACTTTACATCCCCAAC 0.607 NA 15 78 0 0 0.007413 0 0 PRMT1 3276 broad.mit.edu 37 19 50185191 50185191 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:50185191A>G uc010enf.1 + 4 259 c.217A>G c.(217-219)ACC>GCC p.T73A PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.T49A|PRMT1_uc002ppe.2_Missense_Mutation_p.T55A|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.T20A|PRMT1_uc010yba.1_RNA NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN HMT1 hnRNP methyltransferase-like 2 isoform 1 54 cytoplasm protein methyltransferase activity ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CGAGGTGCGCACCCTCACTTA 0.597 NA 10 27 0 0 0.006214 0 0 FPR3 2359 broad.mit.edu 37 19 52327399 52327399 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:52327399C>A uc002pxt.1 + 2 582 c.398C>A c.(397-399)GCC>GAC p.A133D NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 133 Cytoplasmic (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 CCAGCCTGGGCCCAGAACCAT 0.473 NA 6 66 3.59834e-05 3.88908e-05 0.001168 1 0 ZNF649 65251 broad.mit.edu 37 19 52394472 52394472 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:52394472A>G uc002pxy.2 - 5 1185 c.917T>C c.(916-918)GTT>GCT p.V306A ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 306 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTGATGTACAACGAGTAGTGA 0.438 NA 8 33 0 0 0.00308 0 0 ZNF320 162967 broad.mit.edu 37 19 53384157 53384157 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:53384157T>C uc002qag.2 - 4 1413 c.1222A>G c.(1222-1224)ACT>GCT p.T408A ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.T354A|ZNF320_uc002qai.2_Missense_Mutation_p.T408A NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TTCTCTCCAGTATGAAGTTTT 0.388 NA 8 58 0 0 0.00308 0 0 NLRP12 91662 broad.mit.edu 37 19 54314394 54314394 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:54314394C>A uc002qch.3 - 3 739 c.519G>T c.(517-519)CAG>CAT p.Q173H NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.Q173H|NLRP12_uc002qcj.3_Missense_Mutation_p.Q173H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.Q173H NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 173 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GAAGCTGCTGCTGGACCTGCA 0.627 NA 15 47 0.00244969 0.00255871 0.00245 1 0 CNOT3 4849 broad.mit.edu 37 19 54649361 54649361 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:54649361C>T uc002qdj.1 + 8 822 c.511C>T c.(511-513)CGG>TGG p.R171W CNOT3_uc010yel.1_Missense_Mutation_p.R171W|CNOT3_uc002qdi.2_Missense_Mutation_p.R84W|CNOT3_uc002qdk.1_Missense_Mutation_p.R171W|CNOT3_uc010ere.1_RNA NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 171 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGGCTTGAAGCGGCACATCGA 0.622 NA 11 27 0 0 0.000978 0 0 LILRB5 10990 broad.mit.edu 37 19 54757905 54757905 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:54757905G>A uc002qex.2 - 8 1441 c.1330C>T c.(1330-1332)CCC>TCC p.P444S LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P436S|LILRB5_uc002qey.2_Missense_Mutation_p.P445S|LILRB5_uc002qez.2_Missense_Mutation_p.P345S|LILRB5_uc002qfa.1_3'UTR NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 444 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AACCCCGTGGGGGTGAGGGGC 0.701 NA 4 3 0 0 0.000602 0 0 LILRA3 11026 broad.mit.edu 37 19 54802050 54802050 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:54802050C>A uc002qfd.2 - 6 1203 c.1138G>T c.(1138-1140)GCT>TCT p.A380S LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.A316S NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 380 Ig-like C2-type 4. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGAATTCAGCCTGGTACTTA 0.572 NA 35 132 2.47316e-13 3.0613e-13 0.003271 1 0 NLRP2 55655 broad.mit.edu 37 19 55494830 55494830 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:55494830C>T uc002qij.2 + 6 1850 c.1764C>T c.(1762-1764)TGC>TGT p.C588C NLRP2_uc010yfp.1_Silent_p.C565C|NLRP2_uc010esn.2_Silent_p.C564C|NLRP2_uc010eso.2_Silent_p.C585C|NLRP2_uc010esp.2_Silent_p.C566C NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 588 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGCTGCGATGCGACATAAGTT 0.547 NA 11 42 0 0 0.008291 0 0 TNNT1 7138 broad.mit.edu 37 19 55656924 55656924 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:55656924C>T uc002qjb.3 - 6 205 c.116G>A c.(115-117)CGC>CAC p.R39H TNNT1_uc002qiz.3_5'UTR|TNNT1_uc002qja.3_5'UTR|TNNT1_uc002qjc.3_Missense_Mutation_p.R39H|TNNT1_uc002qje.3_Missense_Mutation_p.R28H|TNNT1_uc002qjd.3_Missense_Mutation_p.R28H|TNNT1_uc002qjf.2_Missense_Mutation_p.R35H NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 39 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) TGGTTTGGGGCGTTCCTCTTC 0.542 NA 46 132 0 0 0.00361 0 0 NLRP11 204801 broad.mit.edu 37 19 56303748 56303748 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:56303748C>A uc010ygf.1 - 9 3143 c.2432G>T c.(2431-2433)TGT>TTT p.C811F NLRP11_uc002qlz.2_Missense_Mutation_p.C658F|NLRP11_uc002qmb.2_Missense_Mutation_p.C712F|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 811 LRR 4. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GCGATTCACACACAGGTCTAG 0.468 NA 22 67 0.000229342 0.000244474 0.001882 1 0 ZNF543 125919 broad.mit.edu 37 19 57840569 57840569 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:57840569A>G uc002qoi.1 + 4 2084 c.1739A>G c.(1738-1740)AAC>AGC p.N580S NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ACTTCAGTCAACATCCAGGAA 0.418 NA 17 70 0 0 0.004007 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187749 58187749 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:58187749G>A uc002qpu.2 + 3 933 c.236G>A c.(235-237)AGC>AAC p.S79N NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 79 SCAN box. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAAAAGCACAGCAAGGATGAA 0.403 NA 26 53 0 0 0.005443 0 0 RSAD2 91543 broad.mit.edu 37 2 7036001 7036001 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:7036001T>C uc002qyp.1 + 6 1150 c.1014T>C c.(1012-1014)TTT>TTC p.F338F NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 338 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) TCAGTGGATTTGATGAAAAGA 0.433 NA 12 59 0 0 0.000978 0 0 ODC1 4953 broad.mit.edu 37 2 10584717 10584717 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:10584717C>T uc010exg.1 - 4 593 c.159G>A c.(157-159)CTG>CTA p.L53L ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Silent_p.L53L|ODC1_uc010yjd.1_Intron NM_002539 NP_002530 P11926 DCOR_HUMAN ornithine decarboxylase 1 53 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) TTAACCACCTCAGATGTTTCT 0.483 NA 19 57 0 0 0.006122 0 0 NOL10 79954 broad.mit.edu 37 2 10717815 10717815 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:10717815T>C uc002raq.2 - 20 2019 c.1894A>G c.(1894-1896)AGT>GGT p.S632G NOL10_uc010yje.1_Missense_Mutation_p.S606G|NOL10_uc010yjf.1_Missense_Mutation_p.S582G|NOL10_uc002rap.2_Missense_Mutation_p.S582G NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN nucleolar protein 10 632 nucleolus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) TCGGATACACTCAATGTCCCA 0.318 NA 5 14 0 0 0.001984 0 0 GREB1 9687 broad.mit.edu 37 2 11735467 11735467 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:11735467T>C uc002rbk.1 + 12 2087 c.1787T>C c.(1786-1788)GTA>GCA p.V596A GREB1_uc002rbo.1_Missense_Mutation_p.V230A NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 596 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ACGGGGAAGGTAGACTCGCTG 0.448 Ovarian(39;850 945 2785 23371 33093) NA 8 59 0 0 0.008291 0 0 NBAS 51594 broad.mit.edu 37 2 15468400 15468400 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:15468400T>C uc002rcc.1 - 37 4410 c.4384A>G c.(4384-4386)ACA>GCA p.T1462A NBAS_uc010exl.1_Missense_Mutation_p.T534A|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1462 ovary(2)|liver(1)|skin(1) 4 TCATTGGCTGTAGTTCCGATT 0.299 NA 33 196 0 0 0.00623 0 0 APOB 338 broad.mit.edu 37 2 21229034 21229034 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:21229034T>G uc002red.2 - 26 10834 c.10706A>C c.(10705-10707)AAC>ACC p.N3569T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3569 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) CTGTAAGTGGTTTTTCGTACT 0.448 NA 15 58 0 0 0.003163 0 0 HADHB 3032 broad.mit.edu 37 2 26486254 26486254 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:26486254A>T uc002rgz.2 + 4 367 c.116A>T c.(115-117)CAG>CTG p.Q39L HADHB_uc010yku.1_RNA|HADHB_uc010ykv.1_Missense_Mutation_p.Q17L|HADHB_uc010ykw.1_Missense_Mutation_p.Q39L|HADHB_uc002rha.2_Missense_Mutation_p.Q39L NM_000183 NP_000174 P55084 ECHB_HUMAN mitochondrial trifunctional protein, beta 39 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAAGCTGTCCAGACCAAAACG 0.299 NA 17 61 0 0 0.00499 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27501077 27501077 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:27501077C>G uc002rjl.1 + 5 815 c.397C>G c.(397-399)CTG>GTG p.L133V SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Silent_p.L45L|DNAJC5G_uc002rjm.1_Missense_Mutation_p.L133V NM_173650 NP_775921 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 133 Cys-rich. protein folding membrane heat shock protein binding|unfolded protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGTGTACTCTGCTCACttg 0.398 NA 22 37 0 0 0.001882 0 0 C2orf16 84226 broad.mit.edu 37 2 27801984 27801984 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:27801984C>T uc002rkz.3 + 1 2596 c.2545C>T c.(2545-2547)CGA>TGA p.R849* NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 849 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CTGGAGATCACGATCTAGGAC 0.473 NA 26 55 0 0 0.003954 0 0 XDH 7498 broad.mit.edu 37 2 31600099 31600099 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:31600099T>C uc002rnv.1 - 14 1326 c.1247A>G c.(1246-1248)GAG>GGG p.E416G NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 416 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGAGAAATACTCCCCCTAAAA 0.517 Colon(66;682 1445 30109 40147) NA 18 64 0 0 0.007413 0 0 XDH 7498 broad.mit.edu 37 2 31621554 31621554 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:31621554G>T uc002rnv.1 - 5 397 c.318C>A c.(316-318)GCC>GCA p.A106A NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 106 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CGTGGCTTTTGGCAATTCTCT 0.557 Colon(66;682 1445 30109 40147) NA 27 124 3.65163e-15 4.58388e-15 0.00632 1 0 GALM 130589 broad.mit.edu 37 2 38960634 38960634 + Missense_Mutation SNP G G A rs116100345 by1000genomes TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:38960634G>A uc002rqy.2 + 7 1208 c.956G>A c.(955-957)CGC>CAC p.R319H NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 319 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) TCACAGCCCCGCTTCCCTCCT 0.512 NA 33 130 0 0 0.004289 0 0 THADA 63892 broad.mit.edu 37 2 43779453 43779453 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:43779453A>G uc002rsw.3 - 18 3052 c.2700T>C c.(2698-2700)CTT>CTC p.L900L THADA_uc010far.2_Silent_p.L169L|THADA_uc002rsx.3_Silent_p.L900L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L610L|THADA_uc010fat.1_Silent_p.L48L|THADA_uc002rta.2_Silent_p.L610L|THADA_uc002rtb.1_Silent_p.L900L NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 900 Potential. binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTTCTTCCTCAAGATTTTCCA 0.368 NA 7 27 0 0 0.00308 0 0 THADA 63892 broad.mit.edu 37 2 43793906 43793906 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:43793906A>G uc002rsw.3 - 15 2594 c.2242T>C c.(2242-2244)TCC>CCC p.S748P THADA_uc010far.2_Missense_Mutation_p.S17P|THADA_uc002rsx.3_Missense_Mutation_p.S748P|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.S458P|THADA_uc010fat.1_Missense_Mutation_p.S17P|THADA_uc002rta.2_Missense_Mutation_p.S458P|THADA_uc002rtb.1_Missense_Mutation_p.S748P|THADA_uc002rtc.3_Missense_Mutation_p.S748P|THADA_uc002rtd.2_Missense_Mutation_p.S748P NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 748 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GTCGAGTAGGAAGATCCAGGA 0.303 NA 4 12 0 0 0.009096 0 0 ABCG5 64240 broad.mit.edu 37 2 44050063 44050063 + Nonsense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:44050063G>A uc002rtn.2 - 10 1476 c.1336C>T c.(1336-1338)CGA>TGA p.R446* ABCG5_uc002rtm.2_Nonsense_Mutation_p.R51*|ABCG5_uc002rto.2_Nonsense_Mutation_p.R275*|ABCG5_uc002rtp.2_Nonsense_Mutation_p.R51* NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 446 ABC transmembrane type-2.|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 ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGACAGCTCGCAGCACGGGA 0.582 NA 4 23 0 0 0.009096 0 0 SPRED2 200734 broad.mit.edu 37 2 65541245 65541245 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:65541245C>T uc002sdr.3 - 6 1182 c.647G>A c.(646-648)CGC>CAC p.R216H SPRED2_uc010fcw.2_Missense_Mutation_p.R213H NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 216 KBD. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 GGGGTTGATGCGCACGATCTC 0.637 NA 6 39 0 0 0.001168 0 0 PNO1 56902 broad.mit.edu 37 2 68389725 68389725 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:68389725G>A uc002seh.2 + 5 612 c.550G>A c.(550-552)GCT>ACT p.A184T NM_020143 NP_064528 Q9NRX1 PNO1_HUMAN partner of NOB1 184 KH. nucleolus RNA binding 0 AGGAAGAATCGCTGGCAAAGG 0.418 NSCLC(83;642 1410 13044 32832 40058) NA 12 65 0 0 0.001368 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71191570 71191570 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:71191570C>A uc002shj.2 + 12 1233 c.1146C>A c.(1144-1146)ATC>ATA p.I382I ATP6V1B1_uc010fdv.2_Silent_p.I365I|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.I340I NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 382 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 TCCCTCAGATCTACCCCCCCA 0.542 NA OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 85 4.87955e-14 6.07017e-14 0.005443 1 0 LOXL3 84695 broad.mit.edu 37 2 74763974 74763974 + Nonsense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:74763974A>T uc002smp.1 - 5 846 c.774T>A c.(772-774)TGT>TGA p.C258* LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Nonsense_Mutation_p.C258*|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 258 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 ACTCCAGGGAACAGAGGGAGA 0.657 NA 19 64 0 0 0.007413 0 0 HK2 3099 broad.mit.edu 37 2 75100444 75100444 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:75100444A>T uc002snd.2 + 5 2463 c.537A>T c.(535-537)GGA>GGT p.G179G NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 179 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 AGTCCAGTGGAGTGGAAGGCA 0.532 NA 16 122 0 0 0.00499 0 0 CTNNA2 1496 broad.mit.edu 37 2 80801393 80801393 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:80801393T>A uc010ysh.1 + 12 1852 c.1847T>A c.(1846-1848)GTG>GAG p.V616E CTNNA2_uc010yse.1_Missense_Mutation_p.V616E|CTNNA2_uc010ysf.1_Missense_Mutation_p.V616E|CTNNA2_uc010ysg.1_Missense_Mutation_p.V616E|CTNNA2_uc010ysi.1_Missense_Mutation_p.V248E NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 616 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TCTCGCCTGGTGTATGATGGC 0.517 NA 23 101 0 0 0.00278 0 0 CTNNA2 1496 broad.mit.edu 37 2 80808944 80808944 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:80808944G>T uc010ysh.1 + 13 2012 c.2007G>T c.(2005-2007)CGG>CGT p.R669R CTNNA2_uc010yse.1_Silent_p.R669R|CTNNA2_uc010ysf.1_Silent_p.R669R|CTNNA2_uc010ysg.1_Silent_p.R669R|CTNNA2_uc010ysi.1_Silent_p.R301R NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 669 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGAGCGCACGGGTGAGTGGAC 0.493 NA 7 40 0.00198382 0.00207558 0.001984 1 0 MGAT4A 11320 broad.mit.edu 37 2 99261962 99261962 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:99261962A>G uc002sze.2 - 9 1132 c.818T>C c.(817-819)ATA>ACA p.I273T C2orf64_uc002sza.2_RNA|MGAT4A_uc010yvm.1_Missense_Mutation_p.I145T|MGAT4A_uc010fil.2_Missense_Mutation_p.I27T NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 273 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 AAAATTTTTTATGGTATTAAA 0.299 NA 7 42 0 0 0.00308 0 0 REV1 51455 broad.mit.edu 37 2 100020219 100020219 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:100020219C>T uc002tad.2 - 19 3317 c.3105G>A c.(3103-3105)GCG>GCA p.A1035A REV1_uc002tac.2_Silent_p.A1034A NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 1035 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding p.A1035A(1) ovary(2) 2 TTTGATCATACGCTGCTTTCA 0.498 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 12 91 0 0 0.000978 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148849 103148849 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:103148849G>A uc002tbz.3 + 12 2556 c.2099G>A c.(2098-2100)GGG>GAG p.G700E NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 700 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 TCTCGGATAGGGTCACTTCAG 0.458 NA 9 74 0 0 0.006214 0 0 TMEM182 130827 broad.mit.edu 37 2 103414332 103414332 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:103414332T>C uc010fjb.2 + 4 529 c.342T>C c.(340-342)GGT>GGC p.G114G TMEM182_uc002tcc.3_Silent_p.G71G|TMEM182_uc002tcd.3_Silent_p.G18G|TMEM182_uc010ywe.1_RNA NM_144632 NP_653233 Q6ZP80 TM182_HUMAN transmembrane protein 182 precursor 114 Extracellular (Potential). integral to membrane 0 TTTACCGTGGTTTCTGGGCAG 0.463 NA 10 62 0 0 0.006214 0 0 GPR45 11250 broad.mit.edu 37 2 105858858 105858858 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:105858858G>T uc002tco.1 + 1 659 c.543G>T c.(541-543)CAG>CAT p.Q181H NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 181 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GGGCCCCACAGTGCGTGCTGG 0.692 NA 9 25 0.00448238 0.00464673 0.004482 1 0 SLC5A7 60482 broad.mit.edu 37 2 108626899 108626899 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:108626899G>T uc002tdv.2 + 9 1601 c.1325G>T c.(1324-1326)GGC>GTC p.G442V SLC5A7_uc010ywm.1_Missense_Mutation_p.G195V|SLC5A7_uc010fjj.2_Missense_Mutation_p.G442V|SLC5A7_uc010ywn.1_Missense_Mutation_p.G329V NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 442 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) TATGTTTCTGGCCTCTTCCTG 0.453 NA 40 67 1.49673e-21 1.93548e-21 0.00623 1 0 GCC2 9648 broad.mit.edu 37 2 109085534 109085534 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:109085534G>T uc002tec.2 + 5 469 c.315G>T c.(313-315)GAG>GAT p.E105D GCC2_uc002ted.2_Missense_Mutation_p.E4D NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 105 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 TGAAGCAAGAGGTTGAGGTAA 0.318 NA 6 81 2.0095e-06 2.23198e-06 0.001984 1 0 CCDC138 165055 broad.mit.edu 37 2 109432411 109432411 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:109432411G>A uc002ten.1 + 10 1116 c.1056G>A c.(1054-1056)GGG>GGA p.G352G CCDC138_uc002teo.1_Silent_p.G352G|CCDC138_uc002tep.1_Silent_p.G36G|CCDC138_uc010fjm.1_Silent_p.G36G NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 352 0 CACTTAATGGGCAAGTTTATG 0.308 NA 12 79 0 0 0.001368 0 0 SH3RF3 344558 broad.mit.edu 37 2 110015112 110015112 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:110015112A>G uc010ywt.1 + 4 1012 c.1012A>G c.(1012-1014)AAT>GAT p.N338D NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 338 zinc ion binding ovary(1) 1 ATCCAGCTGCAATGCCTCCCT 0.617 NA 3 11 0 0 0.009096 0 0 ACOXL 55289 broad.mit.edu 37 2 111721234 111721234 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:111721234A>C uc002tgr.3 + 13 1317 c.1093A>C c.(1093-1095)AAG>CAG p.K365Q ACOXL_uc010fkc.2_Intron|ACOXL_uc010yxk.1_Intron NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 365 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 CTCAGGCTTAAAGTGTGACAC 0.303 NA 14 105 0 0 0.003163 0 0 DPP10 57628 broad.mit.edu 37 2 116593767 116593767 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:116593767A>T uc002tla.1 + 22 2442 c.1985A>T c.(1984-1986)AAA>ATA p.K662I DPP10_uc002tlb.1_Missense_Mutation_p.K612I|DPP10_uc002tlc.1_Missense_Mutation_p.K658I|DPP10_uc002tle.2_Missense_Mutation_p.K666I|DPP10_uc002tlf.1_Missense_Mutation_p.K655I NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 662 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATGATCTTAAAATCAGATGAA 0.289 NA 6 35 0 0 0.004482 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125530593 125530593 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:125530593A>T uc002tno.2 + 17 3112 c.2748A>T c.(2746-2748)GTA>GTT p.V916V CNTNAP5_uc010flu.2_Silent_p.V917V NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 916 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGTTGTTTGTAGGTAGGGGAC 0.498 NA 24 107 0 0 0.00333 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131883392 131883392 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:131883392A>T uc002tsg.3 + 3 664 c.104A>T c.(103-105)TAT>TTT p.Y35F PLEKHB2_uc002tsh.2_Missense_Mutation_p.Y35F|PLEKHB2_uc002tsj.3_Missense_Mutation_p.Y35F|PLEKHB2_uc002tsf.3_Missense_Mutation_p.Y35F|PLEKHB2_uc010zao.1_5'UTR|PLEKHB2_uc010zap.1_Missense_Mutation_p.Y35F|PLEKHB2_uc010zaq.1_Missense_Mutation_p.Y35F|PLEKHB2_uc002tsi.3_Missense_Mutation_p.Y76F NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B 35 PH. membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) CTGATCTATTATGATGACCAG 0.453 NA 18 82 0 0 0.006122 0 0 LYPD1 116372 broad.mit.edu 37 2 133403780 133403780 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:133403780G>A uc002ttn.2 - 3 1240 c.264C>T c.(262-264)TGC>TGT p.C88C GPR39_uc002ttl.2_3'UTR|LYPD1_uc002ttm.3_Silent_p.C104C|LYPD1_uc002tto.2_Silent_p.C36C NM_144586 NP_653187 Q8N2G4 LYPD1_HUMAN LY6/PLAUR domain containing 1 isoform a 88 UPAR/Ly6. anchored to membrane|plasma membrane 0 TCCCTGGGGAGCAGAAGGACT 0.567 NA 9 39 0 0 0.006214 0 0 DARS 1615 broad.mit.edu 37 2 136664929 136664929 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:136664929T>C uc002tux.1 - 16 1647 c.1463A>G c.(1462-1464)CAG>CGG p.Q488R DARS_uc010fnj.1_Missense_Mutation_p.Q388R NM_001349 NP_001340 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 488 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) CATGGAGGTCTGACGAACATT 0.313 NA 6 57 0 0 0.001984 0 0 THSD7B 80731 broad.mit.edu 37 2 137990553 137990553 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:137990553C>T uc002tva.1 + 8 1907 c.1907C>T c.(1906-1908)ACA>ATA p.T636I THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.T526I 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) CACTGGGAGACATCGCCTTGG 0.502 NA 22 43 0 0 0.001882 0 0 LRP1B 53353 broad.mit.edu 37 2 141201983 141201983 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:141201983T>A uc002tvj.1 - 65 11182 c.10210A>T c.(10210-10212)ACC>TCC p.T3404S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3404 Extracellular (Potential).|LDL-receptor class A 23. 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) TGGTTCTTGGTACATTTGAAT 0.388 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 20 83 0 0 0.008871 0 0 LRP1B 53353 broad.mit.edu 37 2 141641441 141641441 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:141641441G>T uc002tvj.1 - 25 5086 c.4114C>A c.(4114-4116)CTA>ATA p.L1372I LRP1B_uc010fnl.1_Missense_Mutation_p.L554I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1372 Extracellular (Potential).|LDL-receptor class B 10. 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) CCTGCTATTAGTGTAGTTCTT 0.438 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 51 84 1.15181e-12 1.41306e-12 0.00361 1 0 LRP1B 53353 broad.mit.edu 37 2 141751631 141751631 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:141751631T>A uc002tvj.1 - 16 3549 c.2577A>T c.(2575-2577)CAA>CAT p.Q859H LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 859 Extracellular (Potential).|LDL-receptor class A 3. 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) TCCACCGAGCTTGGATACAGT 0.423 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 22 99 0 0 0.00278 0 0 LRP1B 53353 broad.mit.edu 37 2 141812773 141812773 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:141812773G>C uc002tvj.1 - 10 2436 c.1464C>G c.(1462-1464)CAC>CAG p.H488Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 488 Extracellular (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) GTAGACAGATGTGTGAACAGC 0.443 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 13 54 0 0 0.001368 0 0 LRP1B 53353 broad.mit.edu 37 2 142237972 142237972 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:142237972A>T uc002tvj.1 - 3 1308 c.336T>A c.(334-336)CAT>CAA p.H112Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 112 Extracellular (Potential).|LDL-receptor class A 2. 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) CACCCTGACAATGTACTCCTT 0.388 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 5 46 0 0 0.000602 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901445 160901445 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:160901445A>G uc002ube.1 - 2 540 c.333T>C c.(331-333)GTT>GTC p.V111V PLA2R1_uc010zcp.1_Silent_p.V111V|PLA2R1_uc002ubf.2_Silent_p.V111V NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 111 Extracellular (Potential).|Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 ACCGTAAGGAAACGAGGGTGG 0.537 NA 12 74 0 0 0.000978 0 0 ITGB6 3694 broad.mit.edu 37 2 161056554 161056554 + Nonsense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:161056554G>T uc002ubh.2 - 1 37 c.21C>A c.(19-21)TGC>TGA p.C7* ITGB6_uc010fow.1_Intron|ITGB6_uc010fou.2_Nonsense_Mutation_p.C7*|ITGB6_uc010zcq.1_5'UTR|ITGB6_uc010fov.1_Nonsense_Mutation_p.C7* NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 7 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 GAAAGAACAGGCAAAGCAGTT 0.398 NA 7 74 3.09899e-07 3.51746e-07 0.004482 1 0 FAP 2191 broad.mit.edu 37 2 163074565 163074565 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:163074565T>C uc002ucd.2 - 9 901 c.693A>G c.(691-693)ATA>ATG p.I231M FAP_uc010zct.1_Missense_Mutation_p.I206M|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.I198M NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 231 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 CAATAACTGGTATATCCGTAT 0.348 NA 18 94 0 0 0.006122 0 0 FIGN 55137 broad.mit.edu 37 2 164467255 164467255 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:164467255T>C uc002uck.1 - 3 1398 c.1087A>G c.(1087-1089)AAT>GAT p.N363D NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 363 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TCAAAGCCATTCCCCCGATTT 0.453 NA 7 97 0 0 0.00308 0 0 SCN2A 6326 broad.mit.edu 37 2 166187980 166187980 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:166187980G>A uc002udc.2 + 14 2580 c.2290G>A c.(2290-2292)GCC>ACC p.A764T SCN2A_uc002udd.2_Missense_Mutation_p.A764T|SCN2A_uc002ude.2_Missense_Mutation_p.A764T NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 764 II.|Helical; Name=S1 of repeat II; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) TGTTGACCTGGCCATCACCAT 0.428 NA 14 115 0 0 0.00245 0 0 GALNT3 2591 broad.mit.edu 37 2 166627100 166627100 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:166627100C>T uc010fph.1 - 2 498 c.111G>A c.(109-111)ATG>ATA p.M37I GALNT3_uc010fpi.1_Missense_Mutation_p.M37I|GALNT3_uc002udi.2_Missense_Mutation_p.M37I NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 37 Helical; Signal-anchor for type II membrane protein; (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 CTTCTCTTTGCATTAAAACCA 0.299 NA 10 36 0 0 0.008291 0 0 SCN1A 6323 broad.mit.edu 37 2 166848817 166848817 + Silent SNP G G T rs121917955 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:166848817G>T uc010zcz.1 - 26 4953 c.4935C>A c.(4933-4935)ATC>ATA p.I1645I NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1656 Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCAGCGTGCGGATCCCCTTTG 0.493 NA 41 70 3.09479e-21 3.99783e-21 0.006999 1 0 SCN7A 6332 broad.mit.edu 37 2 167304181 167304181 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:167304181G>A uc002udu.1 - 11 1455 c.1328C>T c.(1327-1329)CCA>CTA p.P443L SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 443 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TGTGGAAATTGGTGACCTTTT 0.378 NA 6 80 0 0 0.00308 0 0 XIRP2 129446 broad.mit.edu 37 2 168096393 168096393 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:168096393C>T uc002udx.2 + 5 905 c.887C>T c.(886-888)ACT>ATT p.T296I XIRP2_uc010fpn.2_Missense_Mutation_p.T329I|XIRP2_uc010fpo.2_Missense_Mutation_p.T296I|XIRP2_uc010fpp.2_Missense_Mutation_p.T296I|XIRP2_uc002udy.2_Missense_Mutation_p.T121I|XIRP2_uc010fpq.2_Missense_Mutation_p.T74I|XIRP2_uc010fpr.2_Missense_Mutation_p.T74I NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 121 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAGGTTGGCACTTCAAGAAGC 0.373 NA 36 42 0 0 0.007835 0 0 XIRP2 129446 broad.mit.edu 37 2 168099218 168099218 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:168099218C>A uc002udx.2 + 8 1334 c.1316C>A c.(1315-1317)GCA>GAA p.A439E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A264E|XIRP2_uc010fpq.2_Missense_Mutation_p.A217E|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 264 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCAACTCTGGCACAAATTAAT 0.443 NA 13 61 2.27111e-07 2.58487e-07 0.001368 1 0 LASS6 253782 broad.mit.edu 37 2 169551539 169551539 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:169551539A>G uc002ueb.1 + 6 711 c.587A>G c.(586-588)CAG>CGG p.Q196R LASS6_uc002uec.1_Missense_Mutation_p.Q196R NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN longevity assurance homolog 6 196 Helical; (Potential).|TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity skin(1) 1 ATGTTTTCTCAGTTCACTGAT 0.398 NA 22 92 0 0 0.002299 0 0 LRP2 4036 broad.mit.edu 37 2 170101223 170101223 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:170101223C>T uc002ues.2 - 22 3623 c.3410G>A c.(3409-3411)GGA>GAA p.G1137E LRP2_uc010zdf.1_Missense_Mutation_p.G1000E NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1137 LDL-receptor class A 10.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTCATCAGATCCATCCCCACA 0.458 NA 26 105 0 0 0.005443 0 0 HAT1 8520 broad.mit.edu 37 2 172809466 172809466 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:172809466A>C uc002uhi.2 + 4 332 c.256A>C c.(256-258)ATG>CTG p.M86L HAT1_uc010fqi.2_Intron|HAT1_uc002uhj.2_Missense_Mutation_p.M1L NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 86 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCTGTCAACAATGTTCCGTGT 0.318 NA 11 45 0 0 0.001368 0 0 ITGA6 3655 broad.mit.edu 37 2 173352323 173352323 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:173352323T>C uc002uhp.1 + 16 2412 c.2209T>C c.(2209-2211)TGT>CGT p.C737R ITGA6_uc010zdy.1_Missense_Mutation_p.C618R|ITGA6_uc002uho.1_Missense_Mutation_p.C737R|ITGA6_uc010fqm.1_Missense_Mutation_p.C383R NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 776 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) GCAAGCTGACTGTGAGCTCGG 0.403 NA 10 59 0 0 0.006214 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173891410 173891410 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:173891410C>T uc002uhv.3 + 24 2551 c.2364C>T c.(2362-2364)TTC>TTT p.F788F RAPGEF4_uc002uhw.3_Silent_p.F644F NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 788 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) GGGAACTCTTCAACTGCGTGC 0.428 NA 17 67 0 0 0.006122 0 0 EVX2 344191 broad.mit.edu 37 2 176948612 176948612 + Translation_Start_Site SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:176948612T>C uc010zeu.1 - 1 79 c.-107A>G c.(-109--105)ATAAT>ATGAT NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TAAATATTATTATCGCTTTCG 0.493 NA 5 7 0 0 0.000602 0 0 FKBP7 51661 broad.mit.edu 37 2 179341873 179341873 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:179341873C>T uc002umk.2 - 2 418 c.289G>A c.(289-291)GAC>AAC p.D97N FKBP7_uc002umm.2_Missense_Mutation_p.D97N|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Missense_Mutation_p.D93N NM_181342 NP_851939 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 isoform a precursor 97 PPIase FKBP-type. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) ATAGCAATGTCTAGGCCTTTT 0.398 Melanoma(26;682 927 5286 17599 46613) NA 6 76 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179402290 179402290 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:179402290C>T uc010zfg.1 - 304 92164 c.91940G>A c.(91939-91941)CGG>CAG p.R30647Q uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24342Q|TTN_uc010zfi.1_Missense_Mutation_p.R24275Q|TTN_uc010zfj.1_Missense_Mutation_p.R24150Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31574 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) AACATGAAGCCGAAGTGTGGA 0.433 NA 7 31 0 0 0.00308 0 0 TTN 7273 broad.mit.edu 37 2 179428787 179428787 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:179428787T>C uc010zfg.1 - 275 74592 c.74368A>G c.(74368-74370)AAG>GAG p.K24790E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K18485E|TTN_uc010zfi.1_Missense_Mutation_p.K18418E|TTN_uc010zfj.1_Missense_Mutation_p.K18293E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25717 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) GGTATAGACTTTGTACCACCA 0.418 NA 32 125 0 0 0.009535 0 0 TTN 7273 broad.mit.edu 37 2 179457128 179457128 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:179457128G>A uc010zfg.1 - 250 52124 c.51900C>T c.(51898-51900)GTC>GTT p.V17300V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V10995V|TTN_uc010zfi.1_Silent_p.V10928V|TTN_uc010zfj.1_Silent_p.V10803V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18227 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) CTTTTACTGAGACAGTTTTTG 0.323 NA 15 132 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179468719 179468719 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:179468719T>G uc010zfg.1 - 231 47215 c.46991A>C c.(46990-46992)AAT>ACT p.N15664T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N9359T|TTN_uc010zfi.1_Missense_Mutation_p.N9292T|TTN_uc010zfj.1_Missense_Mutation_p.N9167T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16591 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) ACGAGGAACATTAAATTCCAC 0.468 NA 49 225 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179468741 179468741 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:179468741C>T uc010zfg.1 - 231 47193 c.46969G>A c.(46969-46971)GGA>AGA p.G15657R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9352R|TTN_uc010zfi.1_Missense_Mutation_p.G9285R|TTN_uc010zfj.1_Missense_Mutation_p.G9160R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16584 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) CCTTTCAATCCCACTTTGGTT 0.473 NA 55 266 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179593385 179593385 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:179593385T>A uc010zfg.1 - 63 15760 c.15536A>T c.(15535-15537)AAA>ATA p.K5179I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1840I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6106 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) AACTATTTGTTTCCCGTCTTT 0.403 NA 8 40 0 0 0.00308 0 0 SESTD1 91404 broad.mit.edu 37 2 180008389 180008389 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:180008389C>T uc002uni.3 - 9 929 c.779G>A c.(778-780)CGC>CAC p.R260H NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 260 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TTCCTGGTAGCGGGTATATTG 0.438 NA 6 109 0 0 0.001984 0 0 CERKL 375298 broad.mit.edu 37 2 182438611 182438611 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:182438611C>A uc002unx.2 - 3 583 c.482G>T c.(481-483)GGC>GTC p.G161V CERKL_uc002uny.2_Missense_Mutation_p.G161V|CERKL_uc010zfm.1_Intron|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.G161V|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Missense_Mutation_p.G161V NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 161 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) GTTTGGAAAGCCTAAGAAGAA 0.338 NA 12 61 1.05317e-09 1.25014e-09 0.00245 1 0 NCKAP1 10787 broad.mit.edu 37 2 183848087 183848087 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:183848087C>T uc002upc.2 - 11 1430 c.1028G>A c.(1027-1029)CGC>CAC p.R343H NCKAP1_uc002upb.2_Missense_Mutation_p.R349H NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 343 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding p.R349L(1) ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TAAAAACTTGCGTCTTTCTCT 0.343 NA 10 48 0 0 0.001855 0 0 FAM171B 165215 broad.mit.edu 37 2 187627130 187627130 + Missense_Mutation SNP C C G rs142301733 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:187627130C>G uc002ups.2 + 8 2173 c.2061C>G c.(2059-2061)CAC>CAG p.H687Q FAM171B_uc002upr.1_Missense_Mutation_p.H654Q|FAM171B_uc002upt.2_Missense_Mutation_p.H156Q NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 687 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 AAGTGAGGCACTCCTTTATAG 0.522 NA 37 53 0 0 0.004878 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702270 187702270 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:187702270C>A uc002upu.1 - 5 546 c.506G>T c.(505-507)GGC>GTC p.G169V NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 169 RING-type 1. apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AATACTATTGCCACAGCCAAA 0.289 NA 11 40 1.5842e-08 1.83838e-08 0.001855 1 0 PMS1 5378 broad.mit.edu 37 2 190738243 190738243 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:190738243A>T uc002urh.3 + 12 3024 c.2495A>T c.(2494-2496)TAC>TTC p.Y832F PMS1_uc002urk.3_Missense_Mutation_p.Y793F|PMS1_uc002uri.3_Missense_Mutation_p.Y670F|PMS1_uc010zgc.1_Missense_Mutation_p.Y656F|PMS1_uc010zgd.1_Missense_Mutation_p.Y656F|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.T665S|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.Y455F|PMS1_uc002urm.2_RNA NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 832 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) ACTGAAAATTACTTGGAAATA 0.279 NA Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 14 34 0 0 0.00499 0 0 DNAH7 56171 broad.mit.edu 37 2 196661411 196661411 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:196661411C>T uc002utj.3 - 56 10505 c.10404G>A c.(10402-10404)GGG>GGA p.G3468G DNAH7_uc002uti.3_5'Flank NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3468 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TAGCAATGGGCCCTTGGCCTT 0.408 NA 8 28 0 0 0.004482 0 0 DNAH7 56171 broad.mit.edu 37 2 196749432 196749432 + Silent SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:196749432T>A uc002utj.3 - 35 5741 c.5640A>T c.(5638-5640)CCA>CCT p.P1880P NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1880 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GATCTGAAATTGGACTTTCCA 0.363 NA 17 56 0 0 0.00499 0 0 SGOL2 151246 broad.mit.edu 37 2 201437494 201437494 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:201437494A>G uc002uvw.2 + 7 2538 c.2425A>G c.(2425-2427)AGA>GGA p.R809G SGOL2_uc010zhd.1_Missense_Mutation_p.R809G|SGOL2_uc010zhe.1_Missense_Mutation_p.R809G NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 809 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 TAAGAAGCCTAGACTAAATGT 0.333 NA 15 58 0 0 0.004007 0 0 AOX1 316 broad.mit.edu 37 2 201485502 201485502 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:201485502T>C uc002uvx.2 + 17 1935 c.1834T>C c.(1834-1836)TTG>CTG p.L612L AOX1_uc010zhf.1_Silent_p.L168L|AOX1_uc010fsu.2_Intron NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 612 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GGAACTTTTCTTGACTTTTGT 0.453 NA 9 45 0 0 0.006214 0 0 AOX1 316 broad.mit.edu 37 2 201507471 201507471 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:201507471A>G uc002uvx.2 + 25 2895 c.2794A>G c.(2794-2796)ACC>GCC p.T932A AOX1_uc010zhf.1_Missense_Mutation_p.T488A|AOX1_uc010fsu.2_Missense_Mutation_p.T298A NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 932 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AGCGCTGATCACCGAATCTTG 0.463 NA 17 56 0 0 0.010504 0 0 ALS2 57679 broad.mit.edu 37 2 202626489 202626489 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:202626489C>A uc002uyo.2 - 4 584 c.228G>T c.(226-228)GAG>GAT p.E76D ALS2_uc002uyp.3_Missense_Mutation_p.E76D|ALS2_uc002uyq.2_Missense_Mutation_p.E76D|ALS2_uc002uyr.2_Missense_Mutation_p.E76D NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 76 RCC1 1. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TTGGACAAATCTCCACTGGTC 0.413 NA 25 107 3.28513e-13 4.06232e-13 0.003954 1 0 FASTKD2 22868 broad.mit.edu 37 2 207631781 207631781 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:207631781C>T uc002vbu.2 + 2 774 c.364C>T c.(364-366)CCT>TCT p.P122S MDH1B_uc010ziw.1_5'Flank|MDH1B_uc002vbs.2_5'Flank|MDH1B_uc010fui.2_5'Flank|MDH1B_uc010fuj.2_5'Flank|MDH1B_uc002vbt.2_5'Flank|FASTKD2_uc002vbv.2_Missense_Mutation_p.P122S|FASTKD2_uc002vbx.2_Missense_Mutation_p.P122S|FASTKD2_uc002vbw.1_Missense_Mutation_p.P122S NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 122 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) GTCTCTTGTCCCTGTTGATAA 0.363 NA 19 30 0 0 0.006122 0 0 CPO 130749 broad.mit.edu 37 2 207804357 207804357 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:207804357G>T uc002vby.2 + 1 80 c.34G>T c.(34-36)GGG>TGG p.G12W NM_173077 NP_775100 Q8IVL8 CBPO_HUMAN carboxypeptidase O precursor 12 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|ovary(1) 2 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) TTATCTTTTGGGGATGCTGGT 0.418 NA 22 105 8.24728e-16 1.03842e-15 0.004656 1 0 C2orf67 151050 broad.mit.edu 37 2 210993811 210993811 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:210993811G>A uc002vds.2 - 3 1382 c.1174C>T c.(1174-1176)CTA>TTA p.L392L C2orf67_uc002vdt.2_Silent_p.L392L|C2orf67_uc002vdw.2_Silent_p.L392L|C2orf67_uc002vdv.2_Silent_p.L392L|C2orf67_uc002vdx.1_Silent_p.L392L NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 392 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) TTGCATTCTAGGTCTGAAATC 0.408 NA 26 82 0 0 0.003954 0 0 CPS1 1373 broad.mit.edu 37 2 211456690 211456690 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:211456690T>C uc002vee.3 + 10 1215 c.1083T>C c.(1081-1083)AAT>AAC p.N361N CPS1_uc010fur.2_Silent_p.N367N|CPS1_uc010fus.2_5'Flank NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 361 Glutamine amidotransferase type-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) ATCAAACAAATGAGGTAAATG 0.338 NA 4 15 0 0 0.001168 0 0 CPS1 1373 broad.mit.edu 37 2 211457612 211457612 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:211457612C>T uc002vee.3 + 11 1228 c.1096C>T c.(1096-1098)CAT>TAT p.H366Y CPS1_uc010fur.2_Missense_Mutation_p.H372Y|CPS1_uc010fus.2_5'Flank NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 366 Glutamine amidotransferase type-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) GGGGATTATGCATGAGAGCAA 0.428 NA 30 83 0 0 0.002445 0 0 ERBB4 2066 broad.mit.edu 37 2 212293190 212293190 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:212293190C>T uc002veg.1 - 22 2760 c.2662G>A c.(2662-2664)GCT>ACT p.A888T ERBB4_uc002veh.1_Missense_Mutation_p.A888T|ERBB4_uc010zji.1_Missense_Mutation_p.A878T|ERBB4_uc010zjj.1_Missense_Mutation_p.A878T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 888 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CACTCCAGAGCCATCCATTTA 0.308 NA TSP Lung(8;0.080) 12 79 0 0 0.001855 0 0 ABCA12 26154 broad.mit.edu 37 2 215876787 215876787 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:215876787G>A uc002vew.2 - 16 2249 c.2029C>T c.(2029-2031)CTC>TTC p.L677F ABCA12_uc002vev.2_Missense_Mutation_p.L359F|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 677 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATCTGATTGAGAATCTCTTTT 0.403 Ovarian(66;664 1488 5121 34295) NA 9 164 0 0 0.001368 0 0 PRKAG3 53632 broad.mit.edu 37 2 219691724 219691724 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:219691724T>C uc002vjb.1 - 10 1114 c.1095A>G c.(1093-1095)ACA>ACG p.T365T PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.Q407R NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 365 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGATGGGTGCTGTCTCCAGCA 0.597 NA 19 110 0 0 0.007413 0 0 PAX3 5077 broad.mit.edu 37 2 223085040 223085040 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:223085040G>T uc010fwo.2 - 7 1358 c.992C>A c.(991-993)CCT>CAT p.P331H PAX3_uc002vmt.1_Missense_Mutation_p.P331H|PAX3_uc002vmy.1_Missense_Mutation_p.P330H|PAX3_uc002vmv.1_Missense_Mutation_p.P331H|PAX3_uc002vmw.1_Missense_Mutation_p.P331H|PAX3_uc002vmx.1_Missense_Mutation_p.P331H NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 331 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCGGTTGAGGTCTGTGAAC 0.498 NA T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 19 76 1.01871e-10 1.22324e-10 0.008871 1 0 SLC19A3 80704 broad.mit.edu 37 2 228563570 228563570 + Silent SNP G G A rs137869730 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:228563570G>A uc002vpi.2 - 3 950 c.861C>T c.(859-861)TTC>TTT p.F287F SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.F283F NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 287 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CTGCTGTGGCGAAAGCCCACC 0.458 NA 20 78 0 0 0.008871 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545503 234545503 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:234545503C>T uc002vur.2 + 1 381 c.335C>T c.(334-336)TCA>TTA p.S112L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S112L NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 112 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TTAATGAGTTCATCCAGTGGT 0.383 NA 27 113 0 0 0.004656 0 0 TRPM8 79054 broad.mit.edu 37 2 234869468 234869469 + Missense_Mutation DNP CC CC AA TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:234869468_234869469CC>AA uc002vvh.2 + 12 1451_1452 c.1411_1412CC>AA c.(1411-1413)CCC>AAC p.P471N TRPM8_uc010fyj.2_Missense_Mutation_p.P159N NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 471 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) AAAGGACAGACCCAAGTTTGTC 0.436 NA 22 65 0 0 0.004672 0 0 ASB18 401036 broad.mit.edu 37 2 237103581 237103582 + Missense_Mutation DNP GG GG TT TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:237103581_237103582GG>TT uc010znh.1 - 6 1334_1335 c.1334_1335CC>AA c.(1333-1335)CCC>CAA p.P445Q NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box-containing 18 445 SOCS box. intracellular signal transduction ovary(1) 1 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) AGGGTAACAGGGGGATGAGGTC 0.54 NA 4 26 0 0 0.004672 0 0 COL6A3 1293 broad.mit.edu 37 2 238249452 238249452 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:238249452T>G uc002vwl.2 - 38 8392 c.8107A>C c.(8107-8109)AGC>CGC p.S2703R COL6A3_uc002vwo.2_Missense_Mutation_p.S2497R|COL6A3_uc010znj.1_Missense_Mutation_p.S2096R|COL6A3_uc002vwj.2_Missense_Mutation_p.S84R NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2703 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) ATTCCCCTGCTGAGGAAGTCC 0.552 NA 6 81 0 0 0.001168 0 0 AGXT 189 broad.mit.edu 37 2 241808422 241808422 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:241808422G>T uc002waa.3 + 1 261 c.140G>T c.(139-141)GGG>GTG p.G47V AGXT_uc010zoi.1_Missense_Mutation_p.G47V NM_000030 NP_000021 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 47 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity 0 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CAGATGATCGGGTCCATGAGC 0.642 NA 19 82 3.73194e-20 4.80593e-20 0.010504 1 0 ANO7 50636 broad.mit.edu 37 2 242128062 242128062 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:242128062A>T uc002wax.2 + 1 139 c.36A>T c.(34-36)CAA>CAT p.Q12H ANO7_uc002waw.2_Missense_Mutation_p.Q12H NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 12 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CGGGGCTCCAAGGGCCACCCC 0.677 NA 12 55 0 0 0.001368 0 0 SCRT2 85508 broad.mit.edu 37 20 644454 644454 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:644454T>C uc002wec.2 - 2 1363 c.785A>G c.(784-786)CAC>CGC p.H262R SRXN1_uc002web.2_Intron NM_033129 NP_149120 Q9NQ03 SCRT2_HUMAN scratch 2 protein 262 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAGGCCGAGTGCGTCTGCAT 0.682 NA 3 11 0 0 0.004672 0 0 MACROD2 140733 broad.mit.edu 37 20 15480436 15480436 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:15480436G>T uc002wou.2 + 8 853 c.589G>T c.(589-591)GCT>TCT p.A197S MACROD2_uc002wot.2_Missense_Mutation_p.A197S|MACROD2_uc002woz.2_5'UTR NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 197 Macro. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) CAACGAGCCTGCTGCAGTCAT 0.438 NA 33 24 1.57351e-24 2.04754e-24 0.003755 1 0 CST11 140880 broad.mit.edu 37 20 23433365 23433365 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:23433365C>T uc002wtf.1 - 1 118 c.84G>A c.(82-84)AAG>AAA p.K28K CST11_uc002wtg.1_Silent_p.K28K NM_130794 NP_570612 Q9H112 CST11_HUMAN cystatin 11 isoform 1 precursor 28 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) GAAAGGTTTTCTTCCTTGCTT 0.507 NA 22 86 0 0 0.010504 0 0 TTLL9 164395 broad.mit.edu 37 20 30497577 30497577 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:30497577G>A uc010gdx.1 + 6 609 c.356G>A c.(355-357)CGG>CAG p.R119Q TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 119 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AACCTGAAGCGGTTCCGGAAG 0.597 NA 10 30 0 0 0.006214 0 0 PHF20 51230 broad.mit.edu 37 20 34526967 34526967 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:34526967G>T uc002xek.1 + 16 2760 c.2649G>T c.(2647-2649)CTG>CTT p.L883L NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) CCCCGCGCCTGGGCTGGCCTC 0.607 NA 11 51 2.27111e-07 2.58487e-07 0.001368 1 0 C20orf4 25980 broad.mit.edu 37 20 34828453 34828453 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:34828453G>A uc002xfc.1 + 2 756 c.663G>A c.(661-663)ACG>ACA p.T221T C20orf4_uc002xfd.1_Silent_p.T221T|C20orf4_uc002xfe.1_Silent_p.T221T NM_015511 NP_056326 Q9Y312 CT004_HUMAN hypothetical protein LOC25980 221 0 Breast(12;0.0162) Myeloproliferative disorder(115;0.0393) AGGGTGCCACGCCAGCTGAGA 0.607 NA 14 96 0 0 0.001855 0 0 PLCG1 5335 broad.mit.edu 37 20 39795149 39795149 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:39795149T>C uc002xjp.1 + 18 2155 c.2034T>C c.(2032-2034)GCT>GCC p.A678A PLCG1_uc002xjo.1_Silent_p.A678A|PLCG1_uc010zwe.1_Silent_p.A304A|PLCG1_uc010ggf.2_Silent_p.A28A NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 678 SH2 2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GAGCACAGGCTGAGCACATGC 0.637 NA 5 48 0 0 0.000602 0 0 CHD6 84181 broad.mit.edu 37 20 40074364 40074364 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:40074364G>A uc002xka.1 - 25 3996 c.3818C>T c.(3817-3819)CCA>CTA p.P1273L CHD6_uc002xkb.1_Missense_Mutation_p.P39L NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1273 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CCAGTCCACTGGGATCTCCAT 0.498 NA 19 51 0 0 0.00278 0 0 IFT52 51098 broad.mit.edu 37 20 42271134 42271134 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:42271134T>G uc002xkw.2 + 13 1258 c.1136T>G c.(1135-1137)CTG>CGG p.L379R IFT52_uc002xky.2_Missense_Mutation_p.L379R|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.L355R|IFT52_uc002xkz.2_Intron NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 379 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GAAGAAGACCTGGAATTTTAT 0.413 NA 12 72 0 0 0.001368 0 0 MYBL2 4605 broad.mit.edu 37 20 42341662 42341662 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:42341662G>A uc002xlb.1 + 12 1955 c.1740G>A c.(1738-1740)AAG>AAA p.K580K MYBL2_uc010zwj.1_Silent_p.K556K NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 580 Bipartite nuclear localization signal. nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GCCCCATCAAGAAAGTCCGGA 0.552 NA 8 17 0 0 0.006214 0 0 SERINC3 10955 broad.mit.edu 37 20 43132458 43132458 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:43132458A>G uc002xme.2 - 8 1187 c.1053T>C c.(1051-1053)TCT>TCC p.S351S SERINC3_uc002xmf.1_Silent_p.S351S|SERINC3_uc010ggs.1_Silent_p.S344S|SERINC3_uc010zwp.1_Silent_p.S296S NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 351 Extracellular (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) TAACTTACCTAGAATACAAGA 0.363 NA 19 90 0 0 0.010504 0 0 DDX27 55661 broad.mit.edu 37 20 47858627 47858627 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:47858627A>G uc002xuh.2 + 18 2154 c.2093A>G c.(2092-2094)GAA>GGA p.E698G NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 698 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAGGCAGAGGAAAGGTCTCAG 0.602 NA 22 152 0 0 0.002299 0 0 PFDN4 5203 broad.mit.edu 37 20 52831911 52831911 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:52831911T>C uc002xwx.2 + 3 343 c.205T>C c.(205-207)TAT>CAT p.Y69H NM_002623 NP_002614 Q9NQP4 PFD4_HUMAN prefoldin subunit 4 69 'de novo' posttranslational protein folding prefoldin complex chaperone binding|unfolded protein binding 0 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206) AATGATACCTTATCAAATTGG 0.328 NA 6 90 0 0 0.001168 0 0 GNAS 2778 broad.mit.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A rs121913495 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:57484421G>A uc002xzw.2 + 8 2816 c.2531G>A c.(2530-2532)CGT>CAT p.R844H GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142H|GNAS_uc002xzx.2_Missense_Mutation_p.R142H|GNAS_uc010gjr.2_Missense_Mutation_p.R92H|GNAS_uc002xzy.2_Missense_Mutation_p.R127H|GNAS_uc002yaa.2_Missense_Mutation_p.R187H|GNAS_uc010zzt.1_Missense_Mutation_p.R202H|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92H|GNAS_uc002yae.2_Missense_Mutation_p.R126H NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 201 GTP (By similarity). R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS). activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201H(37)|p.R201L(1)|p.R844H(1) pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTTCGCTGCCGTGTCCTGACT 0.423 Colon(117;935 1597 6045 8307 46442) NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 20 82 0 0 0.002299 0 0 HRH3 11255 broad.mit.edu 37 20 60791154 60791154 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:60791154G>T uc002ycf.2 - 3 1543 c.1246C>A c.(1246-1248)CAC>AAC p.H416N HRH3_uc002ycg.2_Missense_Mutation_p.H336N|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.H416N NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN histamine receptor H3 416 Helical; Name=7; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) AAGCTGTGGTGGCACAGAGGG 0.627 NA 4 22 0.00024832 0.000264478 0.009096 1 0 COL9A3 1299 broad.mit.edu 37 20 61458629 61458629 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:61458629G>A uc002ydm.2 + 16 832 c.829G>A c.(829-831)GGC>AGC p.G277S NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 277 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) AGGGTTCCGCGGCCCCAAGGG 0.602 NA 13 48 0 0 0.00245 0 0 COL9A3 1299 broad.mit.edu 37 20 61468525 61468525 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:61468525C>A uc002ydm.2 + 30 1697 c.1694C>A c.(1693-1695)CCA>CAA p.P565Q COL9A3_uc002ydn.2_Missense_Mutation_p.P59Q NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 565 Triple-helical region 2 (COL2). Missing.|Missing. axon guidance collagen type IX 0 Breast(26;5.68e-08) CCTGGGCCCCCAGGACCCCCA 0.667 NA 13 191 5.50884e-06 6.04854e-06 0.001368 1 0 DIDO1 11083 broad.mit.edu 37 20 61510873 61510873 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:61510873C>A uc002ydr.1 - 16 6699 c.6435G>T c.(6433-6435)CGG>CGT p.R2145R DIDO1_uc002yds.1_Silent_p.R2145R NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 2145 Arg-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) tgtcccagtcccggctggagt 0.219 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 14 30 2.32078e-09 2.73137e-09 0.003163 1 0 TPTE 7179 broad.mit.edu 37 21 10942989 10942989 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:10942989T>A uc002yip.1 - 12 966 c.598A>T c.(598-600)ATT>TTT p.I200F TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I182F|TPTE_uc002yir.1_Missense_Mutation_p.I162F|TPTE_uc010gkv.1_Missense_Mutation_p.I62F NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 200 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) AACAGAATAATAAGTCGTAGA 0.303 NA 7 68 0 0 0.001984 0 0 SAMSN1 64092 broad.mit.edu 37 21 15870868 15870868 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:15870868C>A uc002yju.1 - 7 896 c.814G>T c.(814-816)GAT>TAT p.D272Y SAMSN1_uc010gky.1_Missense_Mutation_p.D104Y|SAMSN1_uc002yjv.1_Missense_Mutation_p.D340Y NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 272 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCTTTTAAATCTTCTAGAGTC 0.303 NA 13 45 7.93312e-07 8.86685e-07 0.00245 1 0 GABPA 2551 broad.mit.edu 37 21 27136661 27136661 + Nonsense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:27136661G>T uc002ylx.3 + 8 1470 c.943G>T c.(943-945)GGA>TGA p.G315* GABPA_uc002yly.3_Nonsense_Mutation_p.G315* NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 315 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 GAACAGAACAGGTATTTTTGT 0.323 NA 14 21 3.27435e-08 3.77506e-08 0.00245 1 0 CYYR1 116159 broad.mit.edu 37 21 27840881 27840881 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:27840881G>T uc002ymd.2 - 4 726 c.404C>A c.(403-405)ACC>AAC p.T135N CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.T136N NM_052954 NP_443186 Q96J86 CYYR1_HUMAN cysteine and tyrosine-rich 1 protein precursor 135 Cytoplasmic (Potential). integral to membrane 0 ACCCTGTGGGGTGGGGGAGTA 0.532 NA 29 67 7.01153e-11 8.45189e-11 0.007291 1 0 RNF160 26046 broad.mit.edu 37 21 30325585 30325585 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:30325585G>A uc002ymr.2 - 17 3344 c.3331C>T c.(3331-3333)CGT>TGT p.R1111C NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1065 ligase activity|zinc ion binding 0 CCAAGTACACGTAAGTTATCA 0.318 NA 12 106 0 0 0.001368 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31964831 31964831 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:31964831G>T uc002yom.2 + 1 73 c.67G>T c.(67-69)GGG>TGG p.G23W NM_181605 NP_853636 keratin associated protein 6-3 0 CCATGGCTATGggtgctgtgg 0.244 NA 13 70 3.41278e-10 4.07047e-10 0.00499 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253380 32253380 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:32253380C>T uc002yov.2 - 1 495 c.464G>A c.(463-465)TGC>TAC p.C155Y NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 155 keratin filament structural molecule activity pancreas(1) 1 GCTGGACACGCAGGACTGCTG 0.582 NA 22 62 0 0 0.00278 0 0 SFRS15 57466 broad.mit.edu 37 21 33068519 33068519 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:33068519A>G uc002ypd.2 - 9 1401 c.975T>C c.(973-975)GAT>GAC p.D325D SFRS15_uc002ype.2_Silent_p.D325D|SFRS15_uc010glu.2_Silent_p.D310D|SFRS15_uc002ypf.1_5'UTR NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 325 nucleus nucleotide binding|RNA binding 0 GCTGCATGCCATCTCCAGGAA 0.423 NA 24 123 0 0 0.00333 0 0 C21orf62 56245 broad.mit.edu 37 21 34166092 34166092 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:34166092A>G uc010glz.2 - 4 1013 c.641T>C c.(640-642)GTT>GCT p.V214A C21orf49_uc002yqs.2_Intron|C21orf49_uc002yqu.3_Intron|C21orf49_uc002yqt.2_Intron|C21orf62_uc011adt.1_Missense_Mutation_p.V214A|C21orf62_uc011adu.1_Missense_Mutation_p.V214A NM_001162495 NP_001155967 Q9NYP8 CU062_HUMAN hypothetical protein LOC56245 214 ovary(1) 1 Myeloproliferative disorder(46;0.0255) AAATGTGACAACATAGCTTTT 0.368 NA 26 70 0 0 0.005443 0 0 UMODL1 89766 broad.mit.edu 37 21 43547904 43547904 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:43547904G>A uc002zaf.1 + 20 3653 c.3653G>A c.(3652-3654)CGC>CAC p.R1218H UMODL1_uc002zad.1_Missense_Mutation_p.R1146H|UMODL1_uc002zae.1_Missense_Mutation_p.R1274H|UMODL1_uc002zag.1_Missense_Mutation_p.R1346H|UMODL1_uc002zal.1_Missense_Mutation_p.R168H|UMODL1_uc010gpa.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 1218 Extracellular (Potential).|ZP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TGCAAACTCCGCGTCTGCATG 0.468 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 17 50 0 0 0.00499 0 0 TRPM2 7226 broad.mit.edu 37 21 45811243 45811243 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:45811243T>C uc002zet.1 + 12 1742 c.1529T>C c.(1528-1530)CTG>CCG p.L510P TRPM2_uc002zeu.1_Missense_Mutation_p.L510P|TRPM2_uc002zew.1_Missense_Mutation_p.L510P|TRPM2_uc010gpt.1_Missense_Mutation_p.L510P|TRPM2_uc002zex.1_Missense_Mutation_p.L296P|TRPM2_uc002zey.1_Missense_Mutation_p.L23P NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 510 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGGGTGCAGCTGAAGGAGTTT 0.562 NA 7 89 0 0 0.001984 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971263 45971263 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:45971263A>G uc002zfi.1 - 1 126 c.79T>C c.(79-81)TGT>CGT p.C27R C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 27 22 X 5 AA repeats of C-C-X(3).|1. keratin filament large_intestine(1) 1 GGGAGCTCACAGCAGCTCTCT 0.687 NA 22 75 0 0 0.002299 0 0 PCBP3 54039 broad.mit.edu 37 21 47360050 47360050 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:47360050G>T uc002zhq.1 + 13 1141 c.1016G>T c.(1015-1017)CGT>CTT p.R339L PCBP3_uc002zhp.1_Missense_Mutation_p.R319L|PCBP3_uc002zhs.1_Missense_Mutation_p.R313L|PCBP3_uc002zhr.1_Missense_Mutation_p.R338L|PCBP3_uc002zht.1_Missense_Mutation_p.R329L NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 339 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TCCTCAGAGCGTCAGATCACC 0.557 NA 11 55 5.50884e-06 6.04854e-06 0.001368 1 0 PCNT 5116 broad.mit.edu 37 21 47777012 47777012 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:47777012A>C uc002zji.3 + 13 2167 c.2060A>C c.(2059-2061)GAG>GCG p.E687A PCNT_uc002zjj.2_Missense_Mutation_p.E569A NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 687 Glu-rich.|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) CTTCAGACTGAGCTCAAAGAA 0.478 NA 16 35 0 0 0.003163 0 0 PCNT 5116 broad.mit.edu 37 21 47783492 47783492 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr21:47783492A>T uc002zji.3 + 14 2359 c.2252A>T c.(2251-2253)GAC>GTC p.D751V PCNT_uc002zjj.2_Missense_Mutation_p.D633V NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 751 Glu-rich.|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) AAAGAAACGGACTGGAAAGTT 0.408 NA 11 92 0 0 0.008291 0 0 GAB4 128954 broad.mit.edu 37 22 17447184 17447184 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:17447184C>G uc002zlw.2 - 6 1202 c.1094G>C c.(1093-1095)GGC>GCC p.G365A GAB4_uc010gqs.1_3'UTR NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 365 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) GGTAGGGGAGCCTGGGTTCAT 0.577 NA 11 36 0 0 0.000978 0 0 SLC25A18 83733 broad.mit.edu 37 22 18064154 18064154 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:18064154G>T uc002zmp.1 + 5 668 c.174G>T c.(172-174)GCG>GCT p.A58A SLC25A18_uc010gqx.2_Silent_p.A58A|SLC25A18_uc002zmq.1_Silent_p.A58A NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN solute carrier 58 Solcar 1. integral to membrane|mitochondrial inner membrane binding|symporter activity 0 Lung(27;0.124) L-Glutamic Acid(DB00142) CGGCTCGGGCGGAGGGCTTCT 0.642 Colon(118;1560 1625 18964 29606 50093) NA 14 120 2.5808e-16 3.2594e-16 0.006122 1 0 COMT 1312 broad.mit.edu 37 22 19950324 19950324 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:19950324T>G uc002zqu.2 + 3 524 c.275T>G c.(274-276)GTG>GGG p.V92G COMT_uc002zqt.2_Missense_Mutation_p.V92G|COMT_uc002zqv.2_Missense_Mutation_p.V92G|COMT_uc002zqw.2_Missense_Mutation_p.V92G|COMT_uc011ahd.1_Missense_Mutation_p.V92G|COMT_uc002zqx.2_Missense_Mutation_p.V92G NM_000754 NP_000745 P21964 COMT_HUMAN catechol-O-methyltransferase isoform MB-COMT 92 S-adenosyl-L-methionine; via amide nitrogen. neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding ovary(1) 1 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) GCCATGAACGTGGGCGACAAG 0.612 NA 7 31 0 0 0.00308 0 0 DGCR8 54487 broad.mit.edu 37 22 20079413 20079413 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:20079413G>T uc002zri.2 + 7 1876 c.1526G>T c.(1525-1527)GGG>GTG p.G509V DGCR8_uc010grz.2_Missense_Mutation_p.G509V|DGCR8_uc002zrj.2_Missense_Mutation_p.G152V NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 509 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) AACCCCAACGGGAAATCCGAG 0.473 NA 11 21 1.58986e-06 1.77063e-06 0.008291 1 0 PI4KA 5297 broad.mit.edu 37 22 21157563 21157563 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:21157563C>T uc002zsz.3 - 13 1564 c.1333G>A c.(1333-1335)GTG>ATG p.V445M PI4KA_uc010gsq.1_Missense_Mutation_p.V503M NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 445 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GACGGTGTCACAGAGTGCACC 0.552 GBM(136;1332 1831 3115 23601 50806) NA 15 81 0 0 0.00245 0 0 SLC7A4 6545 broad.mit.edu 37 22 21385901 21385901 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:21385901A>T uc002zud.2 - 2 269 c.201T>A c.(199-201)GCT>GCA p.A67A SLC7A4_uc002zue.2_Silent_p.A67A NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 67 Helical; (Potential). cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CAGCAGGGCCAGCCACCTCCT 0.662 NA 12 37 0 0 0.001368 0 0 CCDC157 550631 broad.mit.edu 37 22 30771484 30771484 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:30771484C>T uc011aku.1 + 10 2349 c.1689C>T c.(1687-1689)AGC>AGT p.S563S CCDC157_uc011akv.1_Silent_p.S563S|uc003aho.1_5'Flank NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 563 central_nervous_system(1) 1 GATCCAGCAGCGTGGAATCCC 0.582 NA 12 71 0 0 0.001855 0 0 PES1 23481 broad.mit.edu 37 22 30985197 30985197 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:30985197G>C uc003aij.1 - 2 159 c.85C>G c.(85-87)CTG>GTG p.L29V PES1_uc003aik.1_Missense_Mutation_p.L29V|PES1_uc003ail.1_Missense_Mutation_p.L29V|PES1_uc003aim.1_Missense_Mutation_p.L29V|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 29 Sufficient for nucleolar localization.|Required for 28S ribosomal RNA processing. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 GCCAAGCTCAGCTGGAGCTTC 0.498 NA 3 27 0 0 0.004672 0 0 LARGE 9215 broad.mit.edu 37 22 33700296 33700296 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:33700296G>A uc003and.3 - 13 2228 c.1649C>T c.(1648-1650)GCC>GTC p.A550V LARGE_uc011amd.1_Missense_Mutation_p.A349V|LARGE_uc003ane.3_Missense_Mutation_p.A550V|LARGE_uc010gwp.2_Missense_Mutation_p.A498V|LARGE_uc011ame.1_Missense_Mutation_p.A482V|LARGE_uc011amf.1_Missense_Mutation_p.A550V NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 550 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GTGCTTCATGGCCACGTTGCG 0.572 Colon(70;397 1175 4573 19089 45288) NA 7 112 0 0 0.001984 0 0 LGALS1 3956 broad.mit.edu 37 22 38075703 38075703 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:38075703A>G uc003atn.2 + 4 452 c.355A>G c.(355-357)AAC>GAC p.N119D NM_002305 NP_002296 P09382 LEG1_HUMAN galectin-1 119 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity 0 Melanoma(58;0.0574) GGAGGCCATCAACTACATGGC 0.562 Pancreas(23;406 890 14304 26016) NA 21 76 0 0 0.00333 0 0 BAIAP2L2 80115 broad.mit.edu 37 22 38503887 38503887 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:38503887C>T uc003auw.2 - 4 392 c.248G>A c.(247-249)CGG>CAG p.R83Q NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 83 IMD. filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding pancreas(1) 1 Melanoma(58;0.045) GTTCAAGTGCCGCTGGGTGTC 0.622 NA 20 89 0 0 0.010504 0 0 DNAL4 10126 broad.mit.edu 37 22 39176983 39176983 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:39176983T>G uc003awj.2 - 3 329 c.101A>C c.(100-102)GAG>GCG p.E34A SUN2_uc010gxr.1_Intron NM_005740 NP_005731 O96015 DNAL4_HUMAN dynein light chain 4, axonemal 34 microtubule-based movement|nerve growth factor receptor signaling pathway axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane ATPase activity, coupled|microtubule motor activity 0 Melanoma(58;0.04) CTCCATGGTCTCCACGCGCAT 0.577 NA 9 38 0 0 0.008291 0 0 EP300 2033 broad.mit.edu 37 22 41556648 41556648 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:41556648A>T uc003azl.3 + 20 3988 c.3593A>T c.(3592-3594)TAT>TTT p.Y1198F NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1198 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GCCGACAGGTATCATTTCTGT 0.502 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybsyndrome 13 50 0 0 0.00245 0 0 MCAT 27349 broad.mit.edu 37 22 43533109 43533109 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:43533109C>A uc003bdl.1 - 3 756 c.707G>T c.(706-708)AGG>ATG p.R236M MCAT_uc003bdm.1_Intron NM_173467 NP_775738 Q8IVS2 FABD_HUMAN mitochondrial malonyltransferase isoform a 236 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding ovary(1) 1 Ovarian(80;0.0694) TGAAATCACCCTGCAATCTGG 0.527 NA OREG0026613 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 223 8.00594e-06 8.78253e-06 0.007413 1 0 IL17REL 400935 broad.mit.edu 37 22 50437719 50437719 + Splice_Site SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:50437719C>T uc003bje.1 - 9 833 c.601_splice c.e9+1 p.D201_splice NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like pancreas(1) 1 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) AGGACACTTGCCGTTTTCAAA 0.647 NA 18 58 0 0 0.008871 0 0 CNTN6 27255 broad.mit.edu 37 3 1424651 1424651 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:1424651G>T uc003boz.2 + 18 2459 c.2192G>T c.(2191-2193)GGG>GTG p.G731V CNTN6_uc011asj.1_Missense_Mutation_p.G659V|CNTN6_uc003bpa.2_Missense_Mutation_p.G731V NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 731 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTGCAGAATGGGGAGGGATTT 0.393 NA 13 49 9.31168e-06 1.0188e-05 0.001855 1 0 CNTN4 152330 broad.mit.edu 37 3 3084680 3084680 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:3084680A>G uc003bpc.2 + 21 2752 c.2531A>G c.(2530-2532)GAA>GGA p.E844G CNTN4_uc003bpb.1_Missense_Mutation_p.E515G|CNTN4_uc003bpe.2_Missense_Mutation_p.E516G|CNTN4_uc003bpf.2_Missense_Mutation_p.E515G|CNTN4_uc003bpg.2_Missense_Mutation_p.E100G NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 844 Fibronectin type-III 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TGGAGACATGAAGACAAAGAA 0.363 NA 3 18 0 0 0.009096 0 0 BRPF1 7862 broad.mit.edu 37 3 9781262 9781262 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:9781262C>T uc003bse.2 + 3 1578 c.1179C>T c.(1177-1179)GGC>GGT p.G393G BRPF1_uc003bsf.2_Silent_p.G393G|BRPF1_uc003bsg.2_Silent_p.G393G|BRPF1_uc011ati.1_Silent_p.G393G NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 393 C4-type. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) AACAACGGGGCTCAGGGGCCT 0.557 NA 9 82 0 0 0.004482 0 0 HACL1 26061 broad.mit.edu 37 3 15621450 15621450 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:15621450T>C uc003caf.2 - 9 930 c.770A>G c.(769-771)AAC>AGC p.N257S HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.N230S|HACL1_uc011avt.1_Missense_Mutation_p.N231S|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.N175S|HACL1_uc010hep.2_Intron NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN 2-hydroxyphytanoyl-CoA lyase 257 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding 0 GTATGGATGGTTGTCAGGGAC 0.428 NA 20 71 0 0 0.001882 0 0 SATB1 6304 broad.mit.edu 37 3 18458546 18458546 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:18458546A>G uc003cbh.2 - 3 1971 c.236T>C c.(235-237)GTG>GCG p.V79A SATB1_uc003cbi.2_Missense_Mutation_p.V79A|SATB1_uc003cbj.2_Missense_Mutation_p.V79A NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 79 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 ATGTTCCACCACACAGAAAAC 0.428 NA 19 69 0 0 0.010504 0 0 THRB 7068 broad.mit.edu 37 3 24231827 24231827 + Splice_Site SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:24231827T>C uc003ccx.3 - 5 372 c.23_splice c.e5-1 p.E8_splice THRB_uc010hfe.2_Splice_Site_p.E8_splice|THRB_uc003ccy.3_Splice_Site_p.E8_splice|THRB_uc003ccz.3_Splice_Site_p.E3_splice|THRB_uc003cdc.2_Splice_Site_p.E3_splice|THRB_uc003cdd.2_Splice_Site_p.E3_splice|THRB_uc003cde.1_Splice_Site_p.E3_splice NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) GGCCATTTTCTAAAGGGTTGA 0.463 Melanoma(21;896 1043 15021 37958) NA 21 54 0 0 0.010504 0 0 TOP2B 7155 broad.mit.edu 37 3 25668743 25668743 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:25668743C>A uc011awn.1 - 16 1994 c.1951G>T c.(1951-1953)GAT>TAT p.D651Y TOP2B_uc003cdj.2_Missense_Mutation_p.D646Y NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 651 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CTTTCCATATCAGCAAAATAT 0.333 NA 30 93 4.34311e-12 5.29689e-12 0.003271 1 0 ZNF860 344787 broad.mit.edu 37 3 32031830 32031830 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:32031830A>G uc011axg.1 + 2 1808 c.1259A>G c.(1258-1260)CAT>CGT p.H420R NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 420 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGGAGAATCCATAATGAAGAG 0.358 NA 16 42 0 0 0.003163 0 0 OXSR1 9943 broad.mit.edu 37 3 38294360 38294360 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:38294360T>C uc003chy.2 + 18 1904 c.1562T>C c.(1561-1563)TTT>TCT p.F521S OXSR1_uc010hhb.2_Missense_Mutation_p.F455S NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 521 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTGATAGGATTTGCCCAGCTC 0.433 NA 16 42 0 0 0.006122 0 0 SCN10A 6336 broad.mit.edu 37 3 38835492 38835492 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:38835492G>T uc003ciq.2 - 1 10 c.10C>A c.(10-12)CCC>ACC p.P4T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 4 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) GATCCAATGGGGAATTCCATC 0.473 NA 20 87 1.37657e-19 1.76541e-19 0.001882 1 0 ULK4 54986 broad.mit.edu 37 3 41831195 41831195 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:41831195C>A uc003ckv.3 - 21 2352 c.2151G>T c.(2149-2151)ATG>ATT p.M717I ULK4_uc003ckw.2_Missense_Mutation_p.M717I NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 717 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CACAGGACAACATGGCAGCGA 0.378 NA 23 64 9.86323e-18 1.25203e-17 0.003954 1 0 TRAK1 22906 broad.mit.edu 37 3 42264609 42264609 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:42264609G>T uc003cky.2 + 16 2458 c.2242G>T c.(2242-2244)GGC>TGC p.G748C TRAK1_uc011azi.1_Missense_Mutation_p.G727C NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 748 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 GAAGGAGCGGGGCATTTCTGC 0.637 GBM(44;195 884 22595 31865 41850) NA 11 36 3.07112e-06 3.39597e-06 0.000978 1 0 C3orf39 84892 broad.mit.edu 37 3 43122848 43122848 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:43122848G>A uc003cmq.1 - 2 217 c.76C>T c.(76-78)CGT>TGT p.R26C C3orf39_uc003cmr.1_Missense_Mutation_p.R26C NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 26 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) GCATGCTCACGCAGCCGCACA 0.637 NA 5 28 0 0 0.000602 0 0 CELSR3 1951 broad.mit.edu 37 3 48680236 48680236 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:48680236A>C uc003cul.2 - 30 8769 c.8488T>G c.(8488-8490)TCT>GCT p.S2830A CELSR3_uc003cuf.1_Missense_Mutation_p.S2928A|CELSR3_uc010hkf.2_Missense_Mutation_p.S120A|CELSR3_uc010hkg.2_Missense_Mutation_p.S813A NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2830 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGCTCACAGAGGAGACGGTG 0.652 NA 7 35 0 0 0.001984 0 0 CELSR3 1951 broad.mit.edu 37 3 48697504 48697504 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:48697504C>T uc003cul.2 - 1 2845 c.2564G>A c.(2563-2565)CGG>CAG p.R855Q CELSR3_uc003cuf.1_Missense_Mutation_p.R925Q NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 855 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AAAGACCGGCCGATGAGTGTT 0.348 NA 23 85 0 0 0.005443 0 0 LAMB2 3913 broad.mit.edu 37 3 49166678 49166678 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:49166678T>C uc003cwe.2 - 12 1897 c.1598A>G c.(1597-1599)CAG>CGG p.Q533R LAMB2_uc003cwf.1_Missense_Mutation_p.Q533R NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 533 Laminin EGF-like 5; truncated. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAACACTTACTGGGGATCCAA 0.592 NA 7 70 0 0 0.006214 0 0 APEH 327 broad.mit.edu 37 3 49720357 49720357 + Silent SNP G G A rs41290718 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:49720357G>A uc003cxf.2 + 20 2365 c.1965G>A c.(1963-1965)TCG>TCA p.S655S APEH_uc010hkw.1_Silent_p.S660S NM_001640 NP_001631 P13798 ACPH_HUMAN N-acylaminoacyl-peptide hydrolase 655 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGGACAAATCGCCCATCAGAT 0.597 NA 5 23 0 0 0.001168 0 0 TEX264 51368 broad.mit.edu 37 3 51733556 51733556 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:51733556T>C uc010hls.2 + 5 784 c.615T>C c.(613-615)CTT>CTC p.L205L TEX264_uc003dbk.3_Silent_p.L205L|TEX264_uc010hlt.2_Silent_p.L25L|TEX264_uc003dbl.3_Silent_p.L205L|TEX264_uc003dbm.3_Silent_p.L244L NM_001129884 NP_001123356 Q9Y6I9 TX264_HUMAN testis expressed 264 precursor 205 extracellular region 0 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) GGCGGGGGCTTGTGGAGGCCA 0.577 NA 11 110 0 0 0.008291 0 0 ITIH1 3697 broad.mit.edu 37 3 52825838 52825838 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:52825838G>T uc003dfs.2 + 22 2671 c.2647G>T c.(2647-2649)GCC>TCC p.A883S ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.G474V|ITIH1_uc010hmo.1_Missense_Mutation_p.A437S|ITIH1_uc003dfu.2_Missense_Mutation_p.A249S|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 883 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GTGGCATGGGGCCGAGGTGTC 0.577 NA 7 19 0.00448238 0.00464673 0.004482 1 0 PRKCD 5580 broad.mit.edu 37 3 53218942 53218942 + Silent SNP C C T rs145324216 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:53218942C>T uc003dgl.2 + 10 1193 c.840C>T c.(838-840)TGC>TGT p.C280C PRKCD_uc003dgm.2_Silent_p.C280C|PRKCD_uc010hmt.1_Silent_p.C52C NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 280 Phorbol-ester/DAG-type 2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CCAACCTCTGCGGCATCAACC 0.612 NA 16 67 0 0 0.003163 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54798282 54798282 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:54798282G>A uc003dhf.2 + 13 1332 c.1284G>A c.(1282-1284)CAG>CAA p.Q428Q CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.Q334Q|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.Q162Q NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 428 Extracellular (Potential).|VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTGATGTGCAGGAGAATGTCA 0.483 NA 26 101 0 0 0.008361 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64582668 64582668 + Splice_Site SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:64582668C>T uc003dmg.2 - 27 4050 c.4018_splice c.e27-1 p.C1340_splice ADAMTS9_uc011bfo.1_Splice_Site_p.C1312_splice|ADAMTS9_uc003dmh.1_Splice_Site_p.C1169_splice|ADAMTS9_uc011bfp.1_Splice_Site_p.C251_splice NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TACTGGAACACTAAACACATC 0.463 NA 14 52 0 0 0.004007 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433717 73433717 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:73433717G>A uc003dpl.1 - 10 2096 c.2000C>T c.(1999-2001)CCT>CTT p.P667L PDZRN3_uc011bgh.1_Missense_Mutation_p.P324L|PDZRN3_uc010hoe.1_Missense_Mutation_p.P365L|PDZRN3_uc011bgf.1_Missense_Mutation_p.P384L|PDZRN3_uc011bgg.1_Missense_Mutation_p.P387L NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 667 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) GGGGCCGCTAGGGTAGTACAG 0.652 NA 18 63 0 0 0.007413 0 0 ROBO2 6092 broad.mit.edu 37 3 77623817 77623817 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:77623817G>T uc003dpy.3 + 14 2782 c.2139G>T c.(2137-2139)CGG>CGT p.R713R ROBO2_uc003dpz.2_Silent_p.R717R|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.R717R NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 713 Fibronectin type-III 2.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTAAAGTACGGCCATATTTTA 0.388 NA 4 58 0.00909568 0.00938228 0.009096 1 0 CADM2 253559 broad.mit.edu 37 3 86114764 86114764 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:86114764C>T uc003dqj.2 + 9 1699 c.1073C>T c.(1072-1074)GCT>GTT p.A358V CADM2_uc003dqk.2_Missense_Mutation_p.A327V|CADM2_uc003dql.2_Missense_Mutation_p.A360V NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 358 Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GATCCTAATGCTTTGGCTGGC 0.368 NA 4 42 0 0 0.001168 0 0 CD47 961 broad.mit.edu 37 3 107778323 107778323 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:107778323G>T uc003dwt.1 - 5 847 c.667C>A c.(667-669)CTT>ATT p.L223I CD47_uc003dwu.1_Missense_Mutation_p.L223I|CD47_uc003dwv.1_Missense_Mutation_p.L223I|CD47_uc003dww.1_Missense_Mutation_p.L223I NM_001777 NP_001768 Q08722 CD47_HUMAN CD47 antigen isoform 1 precursor 223 Helical; (Potential). blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) TAGTAGTGAAGTAATATTAAT 0.289 NA 5 56 2.0095e-06 2.23198e-06 0.001984 1 0 DZIP3 9666 broad.mit.edu 37 3 108363619 108363619 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:108363619T>C uc003dxd.2 + 14 2172 c.1750T>C c.(1750-1752)TAT>CAT p.Y584H DZIP3_uc003dxf.1_Missense_Mutation_p.Y584H|DZIP3_uc011bhm.1_Missense_Mutation_p.Y35H|DZIP3_uc003dxe.1_Missense_Mutation_p.Y584H|DZIP3_uc003dxg.1_Missense_Mutation_p.Y307H NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 584 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTTATCCTGCTATCAACAAGG 0.244 NA 4 62 0 0 0.009096 0 0 MORC1 27136 broad.mit.edu 37 3 108813783 108813783 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:108813783G>T uc003dxl.2 - 7 643 c.556C>A c.(556-558)CAG>AAG p.Q186K MORC1_uc011bhn.1_Missense_Mutation_p.Q186K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 186 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 ACATCAAACTGCTGCATCAAT 0.333 NA 5 21 1.024e-07 1.17623e-07 0.000602 1 0 CD200 4345 broad.mit.edu 37 3 112066479 112066479 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:112066479C>A uc003dyw.2 + 5 715 c.571C>A c.(571-573)CCA>ACA p.P191T CD200_uc010hqd.1_Missense_Mutation_p.P50T|CD200_uc003dyx.2_Missense_Mutation_p.P166T|CD200_uc003dyy.2_Missense_Mutation_p.P50T|CD200_uc003dyz.2_Missense_Mutation_p.P92T NM_001004196 NP_001004196 P41217 OX2G_HUMAN CD200 antigen isoform b 166 Ig-like C2-type.|Extracellular (Potential). regulation of immune response integral to plasma membrane 0 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) CACTGCCCGCCCAGCCCCCAT 0.483 NA 40 96 2.32173e-10 2.77982e-10 0.004878 1 0 CCDC80 151887 broad.mit.edu 37 3 112324355 112324355 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:112324355T>C uc003dzf.2 - 8 2980 c.2762A>G c.(2761-2763)TAT>TGT p.Y921C CCDC80_uc011bhv.1_Missense_Mutation_p.Y894C|CCDC80_uc003dzg.2_Missense_Mutation_p.Y921C NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 921 ovary(2) 2 ATGGTAACCATAGCCTGCATA 0.458 NA 12 63 0 0 0.001368 0 0 C3orf30 152405 broad.mit.edu 37 3 118865972 118865972 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:118865972C>A uc003ecb.1 + 1 976 c.936C>A c.(934-936)GGC>GGA p.G312G IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.G312G NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 312 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) AAGTGTACGGCCAAGCCACTG 0.493 NA 6 46 2.7689e-08 3.20121e-08 0.001984 1 0 ITGB5 3693 broad.mit.edu 37 3 124482530 124482530 + Silent SNP C C T rs150931917 by1000genomes TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:124482530C>T uc003eho.2 - 15 2637 c.2340G>A c.(2338-2340)ACG>ACA p.T780T ITGB5_uc010hrx.2_RNA NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 780 Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) CCACAGTGTGCGTGGAGATAG 0.498 NA 18 34 0 0 0.007413 0 0 PLXNA1 5361 broad.mit.edu 37 3 126751317 126751317 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:126751317G>T uc003ejg.2 + 29 5254 c.5250G>T c.(5248-5250)TTG>TTT p.L1750F PLXNA1_uc003ejh.2_Missense_Mutation_p.L418F NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1773 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) ACGCCTGCTTGTCGGTGGTGG 0.582 NA 5 96 0.00116845 0.00122973 0.001168 1 0 ACAD9 28976 broad.mit.edu 37 3 128623263 128623263 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:128623263T>C uc003ela.3 + 11 1266 c.1064T>C c.(1063-1065)GTC>GCC p.V355A ACAD9_uc010hsw.1_Missense_Mutation_p.V232A|ACAD9_uc011bks.1_Missense_Mutation_p.V232A|ACAD9_uc003elb.2_Missense_Mutation_p.V232A|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.V7A NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 355 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 AAGGCTTACGTCATGGAGAGT 0.498 NA 26 80 0 0 0.004656 0 0 Unknown 0 broad.mit.edu 37 3 129134220 129134220 + Nonsense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:129134220C>A uc003emg.2 - 4 869 c.706G>T c.(706-708)GAG>TAG p.E236* NM_207307 NP_997190 hypothetical protein LOC90288 NA TCCTCCACCTCTTGGTTCTTC 0.522 NA 6 19 5.9392e-07 6.67422e-07 0.001168 1 0 PLXND1 23129 broad.mit.edu 37 3 129291755 129291755 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:129291755C>T uc003emx.2 - 14 2967 c.2867G>A c.(2866-2868)GGA>GAA p.G956E NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 956 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGAGAGTGGTCCTGGGGCTGG 0.667 Ovarian(97;366 1484 3738 22084 39045) NA 4 29 0 0 0.000602 0 0 PIK3R4 30849 broad.mit.edu 37 3 130409378 130409378 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:130409378A>G uc003enj.2 - 14 3800 c.3219T>C c.(3217-3219)GCT>GCC p.A1073A NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1073 WD 2. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 GCAGCTTAGAAGCCTCAATTC 0.423 NA 8 79 0 0 0.00308 0 0 TOPBP1 11073 broad.mit.edu 37 3 133363056 133363056 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:133363056T>C uc003eps.2 - 11 1788 c.1656A>G c.(1654-1656)TTA>TTG p.L552L NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 552 BRCT 4. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 TTTGGCTAAATAAGCCTTCTT 0.358 Ovarian(21;193 658 4424 15423 17362) NA Other_conserved_DNA_damage_response_genes 12 20 0 0 0.000978 0 0 PRR23A 729627 broad.mit.edu 37 3 138724634 138724634 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:138724634G>A uc011bms.1 - 1 477 c.477C>T c.(475-477)GAC>GAT p.D159D NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN proline rich 23A 159 0 CGGGGTCCGCGTCCTCCTCGT 0.642 NA 4 19 0 0 0.009096 0 0 ZIC4 84107 broad.mit.edu 37 3 147114079 147114079 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:147114079G>T uc003ewd.1 - 3 521 c.248C>A c.(247-249)GCG>GAG p.A83E ZIC4_uc003ewc.1_Missense_Mutation_p.A13E|ZIC4_uc011bno.1_Missense_Mutation_p.A133E NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 83 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GCTGCGGGCCGCAGGCCCTGG 0.716 NA 7 13 8.12818e-05 8.69429e-05 0.001984 1 0 SIAH2 6478 broad.mit.edu 37 3 150460419 150460419 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:150460419C>G uc003eyi.2 - 2 1111 c.484G>C c.(484-486)GAA>CAA p.E162Q NM_005067 NP_005058 O43255 SIAH2_HUMAN seven in absentia homolog 2 162 SIAH-type.|SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGACGGTATTCACATATGTCT 0.542 NA 20 53 0 0 0.010504 0 0 CLRN1 7401 broad.mit.edu 37 3 150659515 150659515 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:150659515C>T uc003eyk.1 - 2 578 c.287G>A c.(286-288)AGC>AAC p.S96N CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.S20N|CLRN1_uc010hvj.1_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 96 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GACGTGGATGCTCACTGGGAT 0.383 NA 9 23 0 0 0.004482 0 0 CLRN1 7401 broad.mit.edu 37 3 150659548 150659548 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:150659548A>C uc003eyk.1 - 2 545 c.254T>G c.(253-255)TTT>TGT p.F85C CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.V9G|CLRN1_uc010hvj.1_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 85 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ATCTGGAAAAACTGAAGATAA 0.368 NA 7 28 0 0 0.001984 0 0 MME 4311 broad.mit.edu 37 3 154832920 154832920 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:154832920G>T uc010hvr.1 + 4 545 c.334G>T c.(334-336)GAT>TAT p.D112Y MME_uc003fab.1_Missense_Mutation_p.D112Y|MME_uc003fac.1_Missense_Mutation_p.D112Y|MME_uc003fad.1_Missense_Mutation_p.D112Y|MME_uc003fae.1_Missense_Mutation_p.D112Y NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 112 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CATTTTAAGAGATGAACTAGA 0.378 NA 19 59 1.00905e-13 1.25275e-13 0.008871 1 0 GOLIM4 27333 broad.mit.edu 37 3 167750317 167750317 + Silent SNP C C T rs137967362 by1000genomes TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:167750317C>T uc003ffe.2 - 9 1511 c.1167G>A c.(1165-1167)GCG>GCA p.A389A GOLIM4_uc011bpe.1_Silent_p.A389A|GOLIM4_uc011bpf.1_Silent_p.A361A|GOLIM4_uc011bpg.1_Silent_p.A361A NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 389 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 CCTCAGCACGCGCGTGCCCTT 0.483 NA 41 162 0 0 0.00361 0 0 MYNN 55892 broad.mit.edu 37 3 169500335 169500335 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:169500335C>T uc003fft.2 + 5 1732 c.1303C>T c.(1303-1305)CGT>TGT p.R435C MYNN_uc011bpm.1_Missense_Mutation_p.R321C|MYNN_uc003ffu.2_Missense_Mutation_p.R435C|MYNN_uc003ffv.2_Missense_Mutation_p.R162C|MYNN_uc010hwo.2_Missense_Mutation_p.R435C|MYNN_uc003ffw.1_RNA NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 435 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) CTATCATGTCCGTAGGCATAC 0.423 NA 33 109 0 0 0.004289 0 0 LRRC31 79782 broad.mit.edu 37 3 169569568 169569568 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:169569568A>G uc003fgc.1 - 7 1075 c.998T>C c.(997-999)GTC>GCC p.V333A LRRC31_uc010hwp.1_Missense_Mutation_p.V277A NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 333 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TAAAGGAATGACCTGGGCTGT 0.403 NA 16 82 0 0 0.004007 0 0 GNB4 59345 broad.mit.edu 37 3 179138686 179138686 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:179138686C>T uc003fjv.3 - 3 367 c.87G>A c.(85-87)ACG>ACA p.T29T NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 29 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) CCTGAACAAGCGTTGCATCAT 0.303 Melanoma(105;1405 1491 7265 20440 33721) NA 10 50 0 0 0.008291 0 0 TTC14 151613 broad.mit.edu 37 3 180328098 180328098 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:180328098G>A uc003fkk.2 + 12 2213 c.2081G>A c.(2080-2082)CGT>CAT p.R694H TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 694 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCTGGATCACGTGATTTCAGT 0.408 NA 8 84 0 0 0.006214 0 0 FXR1 8087 broad.mit.edu 37 3 180693108 180693108 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:180693108T>C uc003fkq.2 + 16 1633 c.1611T>C c.(1609-1611)GTT>GTC p.V537V FXR1_uc003fkp.2_Silent_p.V452V|FXR1_uc003fkr.2_Intron|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_Silent_p.V480V|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Silent_p.V524V NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 537 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) CAGTCACAGTTGCAGATTATA 0.318 NA 4 22 0 0 0.009096 0 0 ATP11B 23200 broad.mit.edu 37 3 182605387 182605387 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:182605387G>A uc003flb.2 + 24 2986 c.2729G>A c.(2728-2730)AGC>AAC p.S910N ATP11B_uc003flc.2_Missense_Mutation_p.S494N|ATP11B_uc011bqm.1_Intron|ATP11B_uc010hxf.1_Missense_Mutation_p.S72N NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 910 Extracellular (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TTGTATGACAGCGTGTACCTG 0.308 NA 14 86 0 0 0.003163 0 0 MCF2L2 23101 broad.mit.edu 37 3 183036004 183036004 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:183036004G>C uc003fli.1 - 7 695 c.605C>G c.(604-606)GCC>GGC p.A202G MCF2L2_uc003flj.1_Missense_Mutation_p.A202G|MCF2L2_uc003flp.1_Missense_Mutation_p.A237G NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 202 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GTTTTCGATGGCCTGGAAGGT 0.458 NA 33 49 0 0 0.003755 0 0 RTP2 344892 broad.mit.edu 37 3 187419915 187419915 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:187419915A>G uc003fro.1 - 1 431 c.2T>C c.(1-3)ATG>ACG p.M1T NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 1 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) GCTGGTACACATGGTCCTGCT 0.532 NA 12 191 0 0 0.000978 0 0 IL1RAP 3556 broad.mit.edu 37 3 190322124 190322124 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:190322124G>A uc003fsm.1 + 4 478 c.272G>A c.(271-273)CGC>CAC p.R91H IL1RAP_uc003fsk.2_Missense_Mutation_p.R91H|IL1RAP_uc003fsl.2_Missense_Mutation_p.R91H|IL1RAP_uc010hzf.2_Intron|IL1RAP_uc010hzg.1_Missense_Mutation_p.R91H|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.R91H|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.R91H NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 91 Ig-like C2-type 1.|Extracellular (Potential). inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) CCCGAGAACCGCATTAGTAAG 0.527 NA 6 66 0 0 0.001168 0 0 TFRC 7037 broad.mit.edu 37 3 195798336 195798336 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr3:195798336G>A uc003fvz.3 - 6 901 c.618C>T c.(616-618)AAC>AAT p.N206N TFRC_uc003fwa.3_Silent_p.N206N|TFRC_uc010hzy.2_Silent_p.N125N|TFRC_uc011btr.1_Translation_Start_Site NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 206 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CAAGTCTACCGTTCTTATCAA 0.388 NA T BCL6 NHL 28 127 0 0 0.002445 0 0 GAK 2580 broad.mit.edu 37 4 891922 891922 + Nonsense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:891922G>A uc003gbm.3 - 6 749 c.550C>T c.(550-552)CAA>TAA p.Q184* GAK_uc003gbn.3_Nonsense_Mutation_p.Q105*|GAK_uc010ibk.1_Nonsense_Mutation_p.Q78*|GAK_uc003gbl.3_Nonsense_Mutation_p.Q48* NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 184 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) ATGGTCCCTTGGTTACTAAGC 0.537 NA 16 32 0 0 0.00499 0 0 WHSC1 7468 broad.mit.edu 37 4 1955101 1955101 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:1955101T>C uc003gdz.3 + 12 2364 c.2188T>C c.(2188-2190)TGT>CGT p.C730R WHSC1_uc003geb.3_Missense_Mutation_p.C730R|WHSC1_uc003gec.3_Missense_Mutation_p.C730R|WHSC1_uc003ged.3_Missense_Mutation_p.C730R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.C78R NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 730 PHD-type 2. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TGTTAAGCGCTGTGTGGTAAC 0.448 NA T IGH@ MM 12 155 0 0 0.001368 0 0 POLN 353497 broad.mit.edu 37 4 2083370 2083370 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:2083370G>A uc003ger.2 - 20 2298 c.2298C>T c.(2296-2298)TTC>TTT p.F766F POLN_uc010icg.1_Silent_p.F214F|POLN_uc010ich.1_Silent_p.F298F NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 766 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CTTGCACCACGAAGTTCACTG 0.567 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 37 0 0 0.000602 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2355658 2355658 + Splice_Site SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:2355658A>G uc003gex.1 - 2 499 c.180_splice c.e2+1 p.Q60_splice ZFYVE28_uc011bvk.1_Splice_Site|ZFYVE28_uc011bvl.1_Splice_Site_p.Q60_splice|ZFYVE28_uc003gey.3_Splice_Site|ZFYVE28_uc003gez.2_Intron NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 CCCGTGGCTCACCTGACAGGA 0.672 NA 4 12 0 0 0.009096 0 0 MSX1 4487 broad.mit.edu 37 4 4864671 4864671 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:4864671T>C uc003gif.2 + 2 948 c.713T>C c.(712-714)CTG>CCG p.L238P NM_002448 NP_002439 P28360 MSX1_HUMAN msh homeobox 1 232 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTGGAGAAGCTGAAGATGGCC 0.652 NA 5 26 0 0 0.001168 0 0 WFS1 7466 broad.mit.edu 37 4 6303549 6303549 + Missense_Mutation SNP G G A rs143055296 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:6303549G>A uc003giy.2 + 8 2193 c.2027G>A c.(2026-2028)CGC>CAC p.R676H WFS1_uc003gix.2_Missense_Mutation_p.R676H|WFS1_uc003giz.2_Missense_Mutation_p.R494H NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 676 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) TGCGGGCCACGCGCCTGGAAG 0.622 NA 14 69 0 0 0.001855 0 0 BOD1L 259282 broad.mit.edu 37 4 13617056 13617056 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:13617056A>T uc003gmz.1 - 3 556 c.439T>A c.(439-441)TTC>ATC p.F147I BOD1L_uc010idr.1_5'UTR|BOD1L_uc010ids.1_RNA NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 147 DNA binding ovary(5)|breast(1) 6 TGAGGTCTGAATGTGTGGTTG 0.438 NA 8 63 0 0 0.004482 0 0 NCAPG 64151 broad.mit.edu 37 4 17824746 17824746 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:17824746G>A uc003gpp.2 + 8 1435 c.1259G>A c.(1258-1260)AGA>AAA p.R420K NCAPG_uc011bxj.1_5'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 420 HEAT 6. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) GAAGGAGGAAGGTATGTCTAA 0.294 NA 10 32 0 0 0.008291 0 0 PACRGL 133015 broad.mit.edu 37 4 20706396 20706396 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:20706396C>T uc010iek.2 + 3 557 c.166C>T c.(166-168)CCT>TCT p.P56S PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.P104S|PACRGL_uc003gpz.2_Missense_Mutation_p.P56S|PACRGL_uc011bxm.1_Missense_Mutation_p.P56S|PACRGL_uc003gqa.2_Missense_Mutation_p.P56S|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.P56S|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Missense_Mutation_p.P56S|PACRGL_uc003gpy.2_Missense_Mutation_p.P56S NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 56 binding 0 AAAACTTCATCCTAGACCAAG 0.393 NA 19 75 0 0 0.010504 0 0 PGM2 55276 broad.mit.edu 37 4 37836326 37836326 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:37836326C>T uc011byb.1 + 3 409 c.336C>T c.(334-336)TCC>TCT p.S112S PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 112 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 CTCATCCATCCAGTGGGGGTA 0.358 NA 16 56 0 0 0.006122 0 0 ATP8A1 10396 broad.mit.edu 37 4 42509100 42509100 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:42509100C>T uc003gwr.2 - 23 2251 c.2019G>A c.(2017-2019)ACG>ACA p.T673T ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Silent_p.T658T NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 673 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) CTTTCATTAGCGTTTCTATGG 0.373 NA 7 122 0 0 0.001984 0 0 FRYL 285527 broad.mit.edu 37 4 48530280 48530280 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:48530280G>A uc003gyh.1 - 51 7582 c.6977C>T c.(6976-6978)GCT>GTT p.A2326V FRYL_uc003gyg.1_Missense_Mutation_p.A1022V|FRYL_uc003gyi.1_Missense_Mutation_p.A1214V|FRYL_uc003gyj.1_Missense_Mutation_p.A621V NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2326 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TCTAGTGACAGCAATAACTTT 0.388 NA 8 46 0 0 0.00308 0 0 AASDH 132949 broad.mit.edu 37 4 57244594 57244594 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:57244594C>A uc003hbn.2 - 4 541 c.388G>T c.(388-390)GAT>TAT p.D130Y AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_5'UTR|AASDH_uc003hbo.2_Missense_Mutation_p.D30Y|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.D130Y|AASDH_uc003hbp.2_Missense_Mutation_p.D130Y NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 130 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GTAAATGTATCATAGTTCAAT 0.303 NA 11 27 6.40141e-05 6.87682e-05 0.000978 1 0 UGT2B7 7364 broad.mit.edu 37 4 69978228 69978228 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:69978228A>G uc003heg.3 + 6 1410 c.1364A>G c.(1363-1365)AAG>AGG p.K455R UGT2B7_uc010ihq.2_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 455 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 CAACCAGTGAAGCCCCTGGAT 0.373 NA 29 104 0 0 0.007291 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978313 69978313 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:69978313C>T uc003heg.3 + 6 1495 c.1449C>T c.(1447-1449)CTC>CTT p.L483L UGT2B7_uc010ihq.2_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 483 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 CCCACGACCTCACCTGGTTCC 0.478 NA 32 110 0 0 0.004289 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152507 70152507 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:70152507G>A uc003hej.2 + 3 910 c.908G>A c.(907-909)GGT>GAT p.G303D UGT2B28_uc010ihr.2_Missense_Mutation_p.G303D NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 303 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) GGTGAAAATGGTGTTGTGGTG 0.413 NA 43 146 0 0 0.002852 0 0 AMTN 401138 broad.mit.edu 37 4 71394465 71394465 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:71394465T>G uc003hfk.1 + 6 409 c.320T>G c.(319-321)CTT>CGT p.L107R AMTN_uc010ihy.1_Missense_Mutation_p.L106R NM_212557 NP_997722 Q6UX39 AMTN_HUMAN amelotin precursor 107 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction large_intestine(1)|central_nervous_system(1) 2 Lung(101;0.235) GTCACACAACTTGGAGCCCAG 0.318 NA 3 31 0 0 0.004672 0 0 DCK 1633 broad.mit.edu 37 4 71889417 71889417 + Silent SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:71889417T>G uc003hfx.2 + 4 831 c.543T>G c.(541-543)ACT>ACG p.T181T DCK_uc011cbb.1_Silent_p.T109T NM_000788 NP_000779 P27707 DCK_HUMAN deoxycytidine kinase 181 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity ovary(1) 1 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) TTCAAGCCACTCCAGAGGTAA 0.343 NA 9 24 0 0 0.004482 0 0 NPFFR2 10886 broad.mit.edu 37 4 72897682 72897682 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:72897682G>T uc003hgg.2 + 1 162 c.64G>T c.(64-66)GCA>TCA p.A22S NPFFR2_uc010iig.1_5'UTR NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 22 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) CGTCTCATCTGCACCGGACAA 0.637 NA 18 53 8.34094e-07 9.30594e-07 0.008871 1 0 CCDC158 339965 broad.mit.edu 37 4 77276548 77276548 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:77276548T>C uc003hkb.3 - 14 2368 c.2215A>G c.(2215-2217)AAA>GAA p.K739E NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 739 Potential. skin(3)|ovary(2)|pancreas(1) 6 TGACCTCTTTTGGCTGTGATT 0.423 NA 29 89 0 0 0.002096 0 0 SHROOM3 57619 broad.mit.edu 37 4 77677915 77677915 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:77677915A>C uc011cbx.1 + 8 5976 c.5023A>C c.(5023-5025)ATT>CTT p.I1675L SHROOM3_uc003hkg.2_Missense_Mutation_p.I1453L NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1675 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GGCCAAGGAAATTGTCCACCA 0.458 NA 9 76 0 0 0.006214 0 0 SEPT11 55752 broad.mit.edu 37 4 77936159 77936159 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:77936159G>A uc003hkj.2 + 5 838 c.676G>A c.(676-678)GCA>ACA p.A226T SEPT11_uc010ijh.1_Missense_Mutation_p.A218T|SEPT11_uc011cca.1_Missense_Mutation_p.A236T|SEPT11_uc003hkk.1_Missense_Mutation_p.A26T NM_018243 NP_060713 Q9NVA2 SEP11_HUMAN septin 11 226 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding 0 AGAGATTAACGCAACAATGAG 0.363 NA 17 48 0 0 0.006122 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82380611 82380611 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:82380611G>T uc003hmi.1 - 2 196 c.52C>A c.(52-54)CGA>AGA p.R18R RASGEF1B_uc003hmj.1_Silent_p.R18R|RASGEF1B_uc010ijq.1_Silent_p.R18R|RASGEF1B_uc003hmk.2_Silent_p.R18R NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 18 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 TAGAGGTTTCGATTGTAACCA 0.428 NA 5 58 1.23904e-05 1.35089e-05 0.000602 1 0 HELQ 113510 broad.mit.edu 37 4 84358134 84358134 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:84358134T>C uc003hom.2 - 9 2104 c.1925A>G c.(1924-1926)TAT>TGT p.Y642C HELQ_uc010ikb.2_Missense_Mutation_p.Y575C|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 642 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 ACTGTGGTGATAGGCAACTCC 0.448 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 7 17 0 0 0.001984 0 0 MMRN1 22915 broad.mit.edu 37 4 90856406 90856406 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:90856406G>T uc003hst.2 + 6 1646 c.1575G>T c.(1573-1575)CAG>CAT p.Q525H MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q267H NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 525 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CAACTGAACAGGTATCAGACC 0.363 NA 30 76 1.74807e-11 2.11949e-11 0.002096 1 0 GRID2 2895 broad.mit.edu 37 4 94344008 94344008 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:94344008A>T uc011cdt.1 + 10 1692 c.1434A>T c.(1432-1434)TTA>TTT p.L478F GRID2_uc011cdu.1_Missense_Mutation_p.L383F NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 478 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) TGGATGCCTTATCTAACTACC 0.428 NA 10 31 0 0 0.008291 0 0 BMPR1B 658 broad.mit.edu 37 4 96051154 96051154 + Nonsense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:96051154A>T uc003htm.3 + 9 1001 c.727A>T c.(727-729)AGA>TGA p.R243* BMPR1B_uc010ilb.2_Nonsense_Mutation_p.R243*|BMPR1B_uc003htn.3_Nonsense_Mutation_p.R243* NM_001203 NP_001194 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 243 Cytoplasmic (Potential).|Protein kinase. BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity lung(4)|skin(2)|stomach(1)|breast(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) CAGCTGGTTCAGAGAGACAGA 0.453 NA 10 49 0 0 0.006214 0 0 C4orf37 285555 broad.mit.edu 37 4 98865118 98865118 + Nonsense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:98865118A>C uc003htt.1 - 8 1064 c.974T>G c.(973-975)TTA>TGA p.L325* NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 325 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) CAAGTTAGGTAATTCATCAGA 0.338 NA 11 75 0 0 0.000978 0 0 AGXT2L1 64850 broad.mit.edu 37 4 109677636 109677636 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:109677636G>T uc003hzc.2 - 4 529 c.348C>A c.(346-348)AAC>AAA p.N116K AGXT2L1_uc010imc.2_Missense_Mutation_p.N110K|AGXT2L1_uc011cfm.1_Missense_Mutation_p.N76K|AGXT2L1_uc011cfn.1_Missense_Mutation_p.N43K|AGXT2L1_uc011cfo.1_Missense_Mutation_p.N58K NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 116 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) AGGCTAAGTCGTTGGCTTCGG 0.383 NA 11 37 1.61879e-10 1.94005e-10 0.001368 1 0 ANK2 287 broad.mit.edu 37 4 114278693 114278694 + Missense_Mutation DNP GG GG TT TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:114278693_114278694GG>TT uc003ibe.3 + 38 9019_9020 c.8919_8920GG>TT c.(8917-8922)GTGGCA>GTTTCA p.A2974S ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.A276S|ANK2_uc011cgb.1_Missense_Mutation_p.A2989S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2941 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACGTTGTAGTGGCAAGCTCCTC 0.411 NA 59 125 0 0 0.004672 0 0 PRSS12 8492 broad.mit.edu 37 4 119234547 119234547 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:119234547C>T uc003ica.1 - 7 1345 c.1298G>A c.(1297-1299)GGT>GAT p.G433D NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 433 SRCR 3. membrane scavenger receptor activity skin(1) 1 TGCTTGTTTACCATATCTGTG 0.413 NA 15 43 0 0 0.004007 0 0 ANKRD50 57182 broad.mit.edu 37 4 125631202 125631202 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:125631202G>A uc003ifg.3 - 1 731 c.465C>T c.(463-465)CTC>CTT p.L155L ANKRD50_uc011cgo.1_Intron|ANKRD50_uc010inw.2_Silent_p.L155L NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 155 central_nervous_system(1) 1 CAGGCTGTAAGAGGCTTTGGA 0.443 NA 15 47 0 0 0.004007 0 0 FAT4 79633 broad.mit.edu 37 4 126241714 126241714 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:126241714A>T uc003ifj.3 + 1 4148 c.4148A>T c.(4147-4149)CAG>CTG p.Q1383L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1383 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTTGAAACACAGTCTTTGTAT 0.363 NA 37 89 0 0 0.003271 0 0 NR3C2 4306 broad.mit.edu 37 4 149356882 149356882 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:149356882A>G uc003ilj.3 - 2 1465 c.1131T>C c.(1129-1131)ACT>ACC p.T377T NR3C2_uc003ilk.3_Silent_p.T377T|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 377 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CTACTTCCTCAGTCTTAGGAA 0.498 Melanoma(27;428 957 40335 51025 51111) NA 19 72 0 0 0.008871 0 0 LRBA 987 broad.mit.edu 37 4 151509207 151509207 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:151509207T>C uc010ipj.2 - 41 6830 c.6356A>G c.(6355-6357)GAC>GGC p.D2119G LRBA_uc003ilt.3_Missense_Mutation_p.D767G|LRBA_uc003ilu.3_Missense_Mutation_p.D2108G NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2119 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CACCTTGGGGTCGATTTTTTT 0.448 NA 31 258 0 0 0.002836 0 0 TDO2 6999 broad.mit.edu 37 4 156835562 156835562 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:156835562C>G uc003ipf.1 + 8 878 c.814C>G c.(814-816)CGT>GGT p.R272G NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 272 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TGATGAGAAACGTCATGAACA 0.348 Colon(57;928 1036 2595 6946 26094) NA 8 34 0 0 0.008291 0 0 RXFP1 59350 broad.mit.edu 37 4 159520482 159520482 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:159520482C>A uc003ipz.2 + 4 373 c.291C>A c.(289-291)GTC>GTA p.V97V RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_Silent_p.V16V|RXFP1_uc010iqo.2_Silent_p.V97V|RXFP1_uc011cjb.1_Silent_p.V43V|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_Silent_p.V16V|RXFP1_uc011cjd.1_Silent_p.V16V|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Silent_p.V124V|RXFP1_uc010iqm.2_Silent_p.V64V|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Silent_p.V43V NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 97 Extracellular (Potential).|LRRNT. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ATTCAGTGGTCGGTTCTGTGC 0.443 NA 13 26 6.31663e-08 7.26909e-08 0.003163 1 0 TLL1 7092 broad.mit.edu 37 4 166981331 166981331 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:166981331A>T uc003irh.1 + 15 2645 c.1998A>T c.(1996-1998)GAA>GAT p.E666D TLL1_uc011cjn.1_Missense_Mutation_p.E689D|TLL1_uc011cjo.1_Missense_Mutation_p.E490D NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 666 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTGAATTGGAAGGCAATGAAG 0.363 NA 12 42 0 0 0.001855 0 0 CLCN3 1182 broad.mit.edu 37 4 170641086 170641086 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:170641086G>A uc003isi.2 + 13 2904 c.2395G>A c.(2395-2397)GAT>AAT p.D799N CLCN3_uc003ish.2_Missense_Mutation_p.R824K|CLCN3_uc011cjz.1_Missense_Mutation_p.D782N|CLCN3_uc011cka.1_Missense_Mutation_p.D772N|uc003isk.1_5'Flank NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 799 CBS 2.|ATP (By similarity).|Cytoplasmic (By similarity). endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) AACAAAAAAAGATATCCTCCG 0.408 NA 10 45 0 0 0.001368 0 0 ADAM29 11086 broad.mit.edu 37 4 175897731 175897731 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:175897731C>A uc003iuc.2 + 5 1725 c.1055C>A c.(1054-1056)CCT>CAT p.P352H ADAM29_uc003iud.2_Missense_Mutation_p.P352H|ADAM29_uc010irr.2_Missense_Mutation_p.P352H|ADAM29_uc011cki.1_Missense_Mutation_p.P352H NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 352 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTTCACAACCTAGATGCATA 0.378 Ovarian(140;1727 1835 21805 25838 41440) NA 11 123 0.00136819 0.00143632 0.001368 1 0 VEGFC 7424 broad.mit.edu 37 4 177650751 177650751 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:177650751G>T uc003ius.1 - 2 727 c.297C>A c.(295-297)CTC>CTA p.L99L NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 99 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TCCTTGAGTTGAGGTTGGCCT 0.373 NA 13 25 4.3838e-07 4.96219e-07 0.001855 1 0 AGA 175 broad.mit.edu 37 4 178354388 178354388 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:178354388G>A uc003iuu.1 - 8 982 c.920C>T c.(919-921)GCC>GTC p.A307V AGA_uc010irt.1_Intron NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 307 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) AGTCACATTGGCACATATAAC 0.343 NA 16 107 0 0 0.006122 0 0 C4orf41 60684 broad.mit.edu 37 4 184626132 184626132 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:184626132G>C uc003ivx.2 + 27 3140 c.2964G>C c.(2962-2964)AGG>AGC p.R988S C4orf41_uc003ivw.2_Missense_Mutation_p.R988S|C4orf41_uc010isc.2_Missense_Mutation_p.R332S|C4orf41_uc003ivy.2_Missense_Mutation_p.R594S NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 988 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) TCTGCCACAGGACCTCAGCAA 0.373 NA 7 111 0 0 0.004482 0 0 FRG1 2483 broad.mit.edu 37 4 190876261 190876261 + Silent SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:190876261A>C uc003izs.2 + 5 578 c.387A>C c.(385-387)TCA>TCC p.S129S NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 129 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TTGGGCGTTCAGATGCAATTG 0.348 NA 8 169 0 0 0.000978 0 0 TPPP 11076 broad.mit.edu 37 5 666182 666182 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:666182A>T uc003jbg.3 - 2 1086 c.368T>A c.(367-369)CTC>CAC p.L123H TPPP_uc003jbh.3_Missense_Mutation_p.L123H NM_007030 NP_008961 O94811 TPPP_HUMAN tubulin polymerization promoting protein 123 microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding 0 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) CTTCTTGGCGAGCTCCTCCAG 0.642 NA 14 67 0 0 0.003163 0 0 IRX4 50805 broad.mit.edu 37 5 1879636 1879636 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:1879636T>C uc003jcz.2 - 4 837 c.718A>G c.(718-720)AAG>GAG p.K240E IRX4_uc011cmf.1_Missense_Mutation_p.K101E NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 240 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) TTGGAGCTCTTGAGGGGctcc 0.502 NA 9 37 0 0 0.006214 0 0 NSUN2 54888 broad.mit.edu 37 5 6623375 6623375 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:6623375A>T uc003jdu.2 - 5 554 c.489T>A c.(487-489)GCT>GCA p.A163A NSUN2_uc003jdt.2_5'Flank|NSUN2_uc011cmk.1_Silent_p.A128A|NSUN2_uc003jdv.2_5'UTR NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 163 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 TCATGCTAACAGCTTCTTGAC 0.418 NA 5 55 0 0 0.000602 0 0 ADCY2 108 broad.mit.edu 37 5 7690828 7690828 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:7690828C>T uc003jdz.1 + 5 812 c.745C>T c.(745-747)CCG>TCG p.P249S ADCY2_uc011cmo.1_Missense_Mutation_p.P69S NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 249 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CTCCCTGCTGCCGGCCCACAT 0.562 NA 5 24 0 0 0.000602 0 0 ROPN1L 83853 broad.mit.edu 37 5 10461362 10461362 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:10461362C>A uc003jex.3 + 4 755 c.484C>A c.(484-486)CGC>AGC p.R162S NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 162 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 CGGGCCCGCTCGCATCCCCTT 0.562 NA 58 69 5.99346e-17 7.5848e-17 0.00361 1 0 ANKH 56172 broad.mit.edu 37 5 14749341 14749341 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:14749341A>G uc003jfm.3 - 6 1093 c.762T>C c.(760-762)AGT>AGC p.S254S NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 254 Cytoplasmic (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 CAATAGGCCGACTGATTCTCT 0.493 NA 5 93 0 0 0.000602 0 0 PRDM9 56979 broad.mit.edu 37 5 23527517 23527517 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:23527517A>G uc003jgo.2 + 11 2502 c.2320A>G c.(2320-2322)AAG>GAG p.K774E NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 774 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CACAGGGGAGAAGCCCTATGT 0.577 NA HNSCC(3;0.000094) 9 166 0 0 0.008291 0 0 CDH10 1008 broad.mit.edu 37 5 24505254 24505254 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:24505254A>G uc003jgr.1 - 8 1692 c.1360T>C c.(1360-1362)TGG>CGG p.W454R CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 454 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGATTATGCCACTGAGATAGT 0.318 NA HNSCC(23;0.051) 6 46 0 0 0.001168 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33561216 33561216 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:33561216G>C uc003jia.1 - 20 4204 c.4041C>G c.(4039-4041)GAC>GAG p.D1347E ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1262E NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1347 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGGCCGCACAGTCAGAATCCA 0.572 NA HNSCC(64;0.19) 21 55 0 0 0.008871 0 0 RANBP3L 202151 broad.mit.edu 37 5 36249757 36249757 + Nonstop_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:36249757C>A uc003jkh.2 - 14 1890 c.1397G>T c.(1396-1398)TGA>TTA p.*466L RANBP3L_uc011cow.1_Nonstop_Mutation_p.*491L NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 466 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AGGTAGTATTCATGAACAGGC 0.313 NA 18 65 1.1804e-14 1.47431e-14 0.003954 1 0 GDNF 2668 broad.mit.edu 37 5 37816117 37816117 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:37816117C>A uc011cpi.1 - 3 472 c.272G>T c.(271-273)CGG>CTG p.R91L GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Missense_Mutation_p.R39L|GDNF_uc011cpe.1_Missense_Mutation_p.R65L|GDNF_uc011cpf.1_Missense_Mutation_p.R65L|GDNF_uc011cpg.1_Missense_Mutation_p.R108L|GDNF_uc011cph.1_Missense_Mutation_p.R82L NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 91 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) CTGCCGATTCCGCTCTCTTCT 0.478 NA 7 77 0.00307968 0.0032006 0.00308 1 0 RICTOR 253260 broad.mit.edu 37 5 38950335 38950335 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:38950335T>C uc003jlp.2 - 31 3639 c.3615A>G c.(3613-3615)GTA>GTG p.V1205V RICTOR_uc003jlo.2_Silent_p.V1205V|RICTOR_uc010ivf.2_Silent_p.V920V NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1205 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TTGAACTTTCTACTACTAACC 0.393 NA 53 160 0 0 0.00361 0 0 C5orf34 375444 broad.mit.edu 37 5 43490815 43490815 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:43490815T>C uc003jnz.1 - 12 1914 c.1597A>G c.(1597-1599)ACA>GCA p.T533A NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 533 breast(1) 1 Lung NSC(6;2.07e-05) CACCATGATGTTACTGTTGTC 0.313 NA 14 21 0 0 0.003163 0 0 HCN1 348980 broad.mit.edu 37 5 45267329 45267329 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:45267329G>T uc003jok.2 - 7 1670 c.1645C>A c.(1645-1647)CGT>AGT p.R549S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 549 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTGGCAGTACGACGTCCTTTG 0.408 NA 20 66 1.01871e-10 1.22324e-10 0.008871 1 0 DHX29 54505 broad.mit.edu 37 5 54563598 54563598 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:54563598C>A uc003jpx.2 - 22 3467 c.3347G>T c.(3346-3348)GGT>GTT p.G1116V DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1116 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) ATCTTTTCGACCAATTGGTGT 0.383 NA 13 36 2.68362e-12 3.28585e-12 0.001368 1 0 MAP3K1 4214 broad.mit.edu 37 5 56171006 56171006 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:56171006A>T uc003jqw.3 + 10 2335 c.1834A>T c.(1834-1836)AGC>TGC p.S612C NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 612 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CAGCAGTGGAAGCAGCCCGAG 0.587 NA 12 47 0 0 0.000978 0 0 HTR1A 3350 broad.mit.edu 37 5 63256362 63256362 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:63256362A>G uc011cqt.1 - 1 1185 c.1185T>C c.(1183-1185)CTT>CTC p.L395L NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 395 Helical; Name=7; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGACGGGGTTAAGCAGAGAGT 0.507 NA 44 171 0 0 0.00361 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64556443 64556443 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:64556443C>T uc003jtp.2 - 14 2628 c.1814G>A c.(1813-1815)CGC>CAC p.R605H ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R226H NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 605 TSP type-1 1. 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) GTTACAGGAGCGATACCGTTT 0.289 NA 8 47 0 0 0.004482 0 0 MRPS27 23107 broad.mit.edu 37 5 71593460 71593460 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:71593460C>T uc003kbz.3 - 3 257 c.221G>A c.(220-222)CGG>CAG p.R74Q MRPS27_uc003kca.3_Missense_Mutation_p.R18Q|MRPS27_uc011cse.1_Missense_Mutation_p.R74Q|MRPS27_uc010iza.2_Missense_Mutation_p.R18Q NM_015084 NP_055899 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 74 mitochondrion|ribosome 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) TTTTCTTACCCGTGATATTGT 0.318 NA 5 22 0 0 0.001168 0 0 ZNF366 167465 broad.mit.edu 37 5 71756480 71756480 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:71756480C>A uc003kce.1 - 2 1030 c.844G>T c.(844-846)GCG>TCG p.A282S NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 282 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGCGTGCACGCGTGCGGCTTG 0.637 NA 21 94 1.85244e-09 2.18845e-09 0.00333 1 0 AGGF1 55109 broad.mit.edu 37 5 76326698 76326698 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:76326698T>C uc003ket.2 + 1 467 c.107T>C c.(106-108)CTG>CCG p.L36P AGGF1_uc003kes.2_Missense_Mutation_p.L36P|AGGF1_uc003keu.1_Intron NM_018046 NP_060516 Q8N302 AGGF1_HUMAN angiogenic factor VG5Q 36 Potential. angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) GAACGTGAACTGCGGAGCTGC 0.522 NA 10 31 0 0 0.001855 0 0 ARSB 411 broad.mit.edu 37 5 78181601 78181601 + Silent SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:78181601T>A uc003kfq.2 - 5 2234 c.948A>T c.(946-948)GGA>GGT p.G316G ARSB_uc003kfr.3_Silent_p.G316G NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 316 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) TCCATTTTCTTCCTCGAAGGG 0.532 Melanoma(169;563 1968 25780 26156 52266) NA 41 96 0 0 0.00874 0 0 RASGRF2 5924 broad.mit.edu 37 5 80497209 80497209 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:80497209C>T uc003kha.1 + 19 2854 c.2854C>T c.(2854-2856)CGA>TGA p.R952* RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 952 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 transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AGAAGTTTTGCGAGACCCAGA 0.403 NA 22 80 0 0 0.004656 0 0 EDIL3 10085 broad.mit.edu 37 5 83680311 83680311 + Translation_Start_Site SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:83680311G>A uc003kio.1 - 1 301 c.-118C>T c.(-120--116)AACGT>AATGT EDIL3_uc003kip.1_Translation_Start_Site NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TCAAGAAGACGTTCTCTTTCC 0.587 NA 5 9 0 0 0.000602 0 0 NR2F1 7025 broad.mit.edu 37 5 92923832 92923832 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:92923832C>T uc003kkj.2 + 2 2360 c.673C>T c.(673-675)CGC>TGC p.R225C NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 225 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) GCTGGCCGCGCGCCTGCTCTT 0.657 NA 22 55 0 0 0.001882 0 0 CAMK4 814 broad.mit.edu 37 5 110560255 110560256 + Missense_Mutation DNP CC CC AA TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:110560255_110560256CC>AA uc011cvj.1 + 2 173_174 c.74_75CC>AA c.(73-75)ACC>AAA p.T25K CAMK4_uc003kpf.2_Missense_Mutation_p.T25K|CAMK4_uc010jbv.2_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 25 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GCCCCGGGGACCGCGAGCCTCG 0.644 NA 5 11 0 0 0.004672 0 0 YTHDC2 64848 broad.mit.edu 37 5 112915284 112915285 + Missense_Mutation DNP GG GG TT TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:112915284_112915285GG>TT uc003kqn.2 + 24 3429_3430 c.3246_3247GG>TT c.(3244-3249)GTGGAT>GTTTAT p.D1083Y NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1083 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) CTTGGACAGTGGATGGCATTCC 0.376 NA 16 81 0 0 0.004672 0 0 PRR16 51334 broad.mit.edu 37 5 120022249 120022249 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:120022249A>T uc003ksq.2 + 2 923 c.760A>T c.(760-762)ACA>TCA p.T254S PRR16_uc003ksp.2_Missense_Mutation_p.T231S|PRR16_uc003ksr.2_Missense_Mutation_p.T184S NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 254 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) CCTCCCTCCTACACCCCATCT 0.537 NA 12 41 0 0 0.001368 0 0 FTMT 94033 broad.mit.edu 37 5 121187760 121187760 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:121187760G>T uc003kss.2 + 1 111 c.102G>T c.(100-102)CCG>CCT p.P34P NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 34 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GTTGGGCCCCGGGGCGCCCCT 0.771 NA 6 11 5.9392e-07 6.67422e-07 0.001168 1 0 LYRM7 90624 broad.mit.edu 37 5 130535268 130535268 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:130535268T>G uc003kvg.1 + 5 362 c.289T>G c.(289-291)TGT>GGT p.C97G NM_181705 NP_859056 Q5U5X0 LYRM7_HUMAN Lyrm7 homolog 97 0 all_cancers(142;0.0377)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGTGCCATATTGTGATGCACC 0.318 NA 10 46 0 0 0.003163 0 0 RAD50 10111 broad.mit.edu 37 5 131923333 131923333 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:131923333A>C uc003kxi.2 + 6 1223 c.836A>C c.(835-837)AAG>ACG p.K279T RAD50_uc003kxh.2_Missense_Mutation_p.K140T NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 279 Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GATAGCCGAAAGAAGCAAATG 0.303 NA Homologous_recombination 13 43 0 0 0.003163 0 0 SEPT8 23176 broad.mit.edu 37 5 132099497 132099497 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:132099497G>A uc003kxr.2 - 4 673 c.435C>T c.(433-435)TAC>TAT p.Y145Y SEPT8_uc003kxs.1_Silent_p.Y145Y|SEPT8_uc003kxu.2_Silent_p.Y145Y|SEPT8_uc011cxi.1_Silent_p.Y143Y|SEPT8_uc003kxv.2_Silent_p.Y143Y|SEPT8_uc003kxt.2_Silent_p.Y85Y NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN septin 8 isoform a 145 cell cycle septin complex GTP binding|protein binding ovary(2) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGTGTCATGGTAGTCGAAGA 0.502 NA OREG0003468 type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 42 111 0 0 0.00874 0 0 DDX46 9879 broad.mit.edu 37 5 134143555 134143555 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:134143555T>C uc003kzw.2 + 16 2240 c.2072T>C c.(2071-2073)GTA>GCA p.V691A DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 691 Helicase C-terminal. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTGATTCTTGTAGTAAATTAT 0.408 Colon(13;391 453 4901 21675 24897) NA 10 34 0 0 0.008291 0 0 H2AFY 9555 broad.mit.edu 37 5 134724751 134724751 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:134724751G>T uc003lam.1 - 2 243 c.33C>A c.(31-33)ACC>ACA p.T11T H2AFY_uc003lao.1_Silent_p.T11T|H2AFY_uc003lan.1_Silent_p.T11T|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Silent_p.T11T|H2AFY_uc003las.1_Silent_p.T11T|H2AFY_uc003lat.1_Silent_p.T11T NM_138610 NP_613258 O75367 H2AY_HUMAN H2A histone family, member Y isoform 3 11 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGACGTCTTGGTGGACTTCT 0.617 NA 7 39 5.18039e-06 5.7182e-06 0.00308 1 0 TRPC7 57113 broad.mit.edu 37 5 135692395 135692395 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:135692395A>G uc003lbn.1 - 1 681 c.678T>C c.(676-678)AGT>AGC p.S226S TRPC7_uc010jef.1_Silent_p.S218S|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.S218S|TRPC7_uc010jei.1_Silent_p.S218S|TRPC7_uc010jej.1_5'UTR NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 227 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) AGTAGGCAGCACTCGCCAGTC 0.552 NA 3 26 0 0 0.004672 0 0 SPOCK1 6695 broad.mit.edu 37 5 136324131 136324131 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:136324131T>C uc003lbo.2 - 7 1099 c.908A>G c.(907-909)TAC>TGC p.Y303C SPOCK1_uc003lbp.2_Missense_Mutation_p.Y303C NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 303 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTGGAAGCAGTAGCACCACTC 0.522 NA 32 77 0 0 0.003755 0 0 PSD2 84249 broad.mit.edu 37 5 139193933 139193933 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:139193933C>A uc003leu.1 + 4 1205 c.1000C>A c.(1000-1002)CGG>AGG p.R334R NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 334 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATGTGGCCCGGCAGCTGGG 0.632 NA 11 22 0.000673444 0.000712385 0.008291 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209641 140209641 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:140209641T>C uc003lho.2 + 1 1992 c.1965T>C c.(1963-1965)GGT>GGC p.G655G 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_uc011dab.1_Silent_p.G655G NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 655 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGACCACGGTGAGCCGGCGC 0.692 NA 8 57 0 0 0.006214 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530476 140530476 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:140530476C>G uc003lir.2 + 1 638 c.638C>G c.(637-639)GCG>GGG p.A213G PCDHB6_uc011dah.1_Missense_Mutation_p.A77G NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 213 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGCTGATCGCGCTGGATGGC 0.602 NA 10 58 0 0 0.000978 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559312 140559312 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:140559312T>A uc011dai.1 + 1 1883 c.1697T>A c.(1696-1698)CTG>CAG p.L566Q PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 566 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTACCCGCTGCAGAATGGC 0.721 NA 20 163 0 0 0.002836 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140870009 140870009 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:140870009A>T uc003lla.1 + 1 1202 c.1202A>T c.(1201-1203)GAG>GTG p.E401V 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_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.E401V NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 401 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCCTTCTGAGAACCACTAC 0.532 NA 32 87 0 0 0.009535 0 0 FGF1 2246 broad.mit.edu 37 5 141993670 141993670 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:141993670G>A uc003lmm.2 - 2 103 c.23C>T c.(22-24)ACC>ATC p.T8I FGF1_uc011dbi.1_Missense_Mutation_p.T8I|FGF1_uc003lmn.3_Missense_Mutation_p.T8I|FGF1_uc003lmp.3_Missense_Mutation_p.T8I|FGF1_uc003lmq.2_Missense_Mutation_p.T8I|FGF1_uc010jgj.2_Missense_Mutation_p.T8I|FGF1_uc003lmr.2_Missense_Mutation_p.T8I|FGF1_uc003lms.3_Missense_Mutation_p.T8I NM_001144892 NP_001138364 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) isoform 1 8 angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding 0 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) GGCTGTGAAGGTGGTGATTTC 0.507 NA 13 42 0 0 0.001855 0 0 PLAC8L1 153770 broad.mit.edu 37 5 145465023 145465023 + Splice_Site SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:145465023C>T uc003lnv.2 - 3 465 c.393_splice c.e3+1 p.Q131_splice PLAC8L1_uc011dbp.1_Splice_Site NM_001029869 NP_001025040 A1L4L8 PL8L1_HUMAN PLAC8-like 1 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACACACTTACCTGTATTTTA 0.453 NA 9 36 0 0 0.006214 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148748059 148748059 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:148748059C>G uc003lqk.2 + 6 1389 c.1327C>G c.(1327-1329)CTC>GTC p.L443V PCYOX1L_uc003lql.2_Missense_Mutation_p.L426V|PCYOX1L_uc010jgz.2_Missense_Mutation_p.L367V|PCYOX1L_uc003lqm.2_Missense_Mutation_p.L325V|PCYOX1L_uc003lqn.2_Missense_Mutation_p.L353V NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 443 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGACCAGCTCTTCTACCT 0.612 Ovarian(62;1136 1477 27277 27495) NA 21 58 0 0 0.010504 0 0 PDE6A 5145 broad.mit.edu 37 5 149247691 149247691 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:149247691T>C uc003lrg.3 - 18 2286 c.2166A>G c.(2164-2166)TCA>TCG p.S722S NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 722 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGGTGATGGCTGAGAGATCAC 0.552 NA 5 81 0 0 0.001984 0 0 SLC26A2 1836 broad.mit.edu 37 5 149361207 149361207 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:149361207C>T uc003lrh.2 + 3 2319 c.2051C>T c.(2050-2052)GCT>GTT p.A684V NM_000112 NP_000103 P50443 S26A2_HUMAN solute carrier family 26 member 2 684 Cytoplasmic (Potential).|STAS. integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GTTCTGCTGGCTCAGTGCAAT 0.433 NA 11 32 0 0 0.001855 0 0 LSM11 134353 broad.mit.edu 37 5 157170864 157170864 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:157170864G>A uc003lxe.1 + 1 110 c.106G>A c.(106-108)GCC>ACC p.A36T NM_173491 NP_775762 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 36 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCCGCTGCTGGCCCTGTACGC 0.527 NA 3 14 0 0 0.004672 0 0 ADRA1B 147 broad.mit.edu 37 5 159344042 159344042 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:159344042A>G uc003lxt.1 + 1 303 c.130A>G c.(130-132)AGG>GGG p.R44G NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 44 Extracellular (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) GGACATCACCAGGGCCATCTC 0.597 NA 23 52 0 0 0.001882 0 0 GABRA6 2559 broad.mit.edu 37 5 161128731 161128731 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:161128731A>T uc003lyu.2 + 9 1652 c.1314A>T c.(1312-1314)GTA>GTT p.V438V GABRA6_uc003lyv.2_Silent_p.V209V NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 438 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTACTGGGTAGTTTATCTTT 0.428 NA TCGA Ovarian(5;0.080) 20 52 0 0 0.002299 0 0 ODZ2 57451 broad.mit.edu 37 5 167379732 167379732 + Silent SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:167379732C>G uc010jjd.2 + 4 852 c.852C>G c.(850-852)GCC>GCG p.A284A ODZ2_uc003lzq.2_Silent_p.A163A|ODZ2_uc003lzr.3_Silent_p.A93A 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) AGATCCACGCCCCGGCCCCAG 0.622 NA 5 9 0 0 0.000602 0 0 DOCK2 1794 broad.mit.edu 37 5 169145738 169145738 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:169145738T>C uc003maf.2 + 22 2290 c.2210T>C c.(2209-2211)CTG>CCG p.L737P DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L229P NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 737 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) CTAAGAACGCTGAAGGCTTTG 0.398 NA 13 53 0 0 0.001855 0 0 DOCK2 1794 broad.mit.edu 37 5 169472840 169472840 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:169472840T>C uc003maf.2 + 39 3977 c.3897T>C c.(3895-3897)AGT>AGC p.S1299S DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.S791S NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1299 DHR-2.|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) AGGCCATAAGTCTGTGCAAGG 0.567 NA 13 70 0 0 0.00245 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805721 169805721 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:169805721G>C uc003maq.1 - 4 963 c.563C>G c.(562-564)GCG>GGG p.A188G KCNIP1_uc003map.2_Intron NM_004137 NP_004128 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated 188 Cytoplasmic (Potential). platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity ovary(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) CTTCTGGGCCGCCAGGATGGA 0.617 NA 22 67 0 0 0.00333 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765970 171765970 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:171765970C>A uc003mbr.2 - 13 2310 c.2139G>T c.(2137-2139)ACG>ACT p.T713T NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 713 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTGTTTGCCCGTCCTGTCCT 0.637 NA 10 30 0.000673444 0.000712385 0.008291 1 0 DRD1 1812 broad.mit.edu 37 5 174869318 174869318 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:174869318A>T uc003mcz.2 - 2 1730 c.785T>A c.(784-786)ATG>AAG p.M262K NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 262 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) 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) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) TTTGAAGGACATCTTAAAAGA 0.473 NA 14 37 0 0 0.004007 0 0 C5orf25 375484 broad.mit.edu 37 5 175717418 175717418 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:175717418A>G uc003mds.3 + 4 1241 c.834A>G c.(832-834)TTA>TTG p.L278L C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Silent_p.L297L|uc003mdu.1_Silent_p.L189L Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 278 Pro-rich. 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) AAAGCATATTACATCCACAAG 0.542 NA 11 30 0 0 0.001368 0 0 EXOC2 55770 broad.mit.edu 37 6 576801 576801 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:576801G>A uc003mtd.2 - 12 1408 c.1274C>T c.(1273-1275)GCG>GTG p.A425V EXOC2_uc003mte.2_Missense_Mutation_p.A425V|EXOC2_uc011dho.1_Missense_Mutation_p.A20V NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 425 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CTTCAGGGACGCTGTCTGACT 0.507 NA 9 58 0 0 0.004482 0 0 BPHL 670 broad.mit.edu 37 6 3129350 3129350 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:3129350A>T uc003mva.2 + 4 499 c.450A>T c.(448-450)GCA>GCT p.A150A BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.A133A NM_004332 NP_004323 Q86WA6 BPHL_HUMAN biphenyl hydrolase-like precursor 150 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity 0 Ovarian(93;0.0386) all_hematologic(90;0.108) TTGCTGCTGCAAAATATCCAT 0.507 NA 53 39 0 0 0.00361 0 0 PHACTR1 221692 broad.mit.edu 37 6 13283761 13283761 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:13283761T>C uc010jpc.2 + 13 1949 c.1617T>C c.(1615-1617)GAT>GAC p.D539D PHACTR1_uc003nah.1_Silent_p.D539D|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 539 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GCAGGGCAGATAAGCCGTGGA 0.612 NA 21 47 0 0 0.004656 0 0 ATXN1 6310 broad.mit.edu 37 6 16326806 16326806 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:16326806A>G uc003nbt.2 - 8 2707 c.1736T>C c.(1735-1737)ATC>ACC p.I579T ATXN1_uc010jpi.2_Missense_Mutation_p.I579T|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 579 Self-association.|Interaction with USP7.|RNA-binding.|AXH. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CAACTGGATGATGGAGCCTTT 0.572 NA 15 83 0 0 0.003163 0 0 GPX6 257202 broad.mit.edu 37 6 28473527 28473527 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:28473527C>A uc011dlj.1 - 5 462 c.412G>T c.(412-414)GGG>TGG p.G138W GPX6_uc010jrg.1_Intron NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 138 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) TTCACATCCCCTTTCTCAAAG 0.443 NA 8 109 2.74318e-10 3.27811e-10 0.006214 1 0 OR2W1 26692 broad.mit.edu 37 6 29012595 29012595 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:29012595A>G uc003nlw.2 - 1 358 c.358T>C c.(358-360)TAT>CAT p.Y120H NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AAACGATCATAGGACATAACA 0.403 NA 7 88 0 0 0.001984 0 0 ABCF1 23 broad.mit.edu 37 6 30553956 30553956 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:30553956C>T uc003nql.2 + 18 1854 c.1759C>T c.(1759-1761)CGA>TGA p.R587* ABCF1_uc003nqm.2_Nonsense_Mutation_p.R549*|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 587 inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 GCAGAAATGCCGACGGAAAAA 0.542 NA 15 73 0 0 0.004007 0 0 MICB 4277 broad.mit.edu 37 6 31474022 31474022 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:31474022A>G uc003ntn.3 + 3 544 c.428A>G c.(427-429)CAA>CGA p.Q143R MICB_uc011dnm.1_Missense_Mutation_p.Q111R|MICB_uc003nto.3_Intron NM_005931 NP_005922 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 143 Extracellular (Potential). antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding 0 TTCCTCTCCCAAAACCTGGAG 0.527 NA 8 74 0 0 0.006214 0 0 HSPA1L 3305 broad.mit.edu 37 6 31777849 31777849 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:31777849C>T uc003nxh.2 - 2 2084 c.1901G>A c.(1900-1902)GGC>GAC p.G634D HSPA1L_uc010jte.2_Missense_Mutation_p.G634D NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 634 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 AATTGTGGGGCCTGTGGCAGG 0.453 NA 9 75 0 0 0.006214 0 0 STK19 8859 broad.mit.edu 37 6 31939953 31939953 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:31939953C>A uc003nyv.2 + 1 308 c.180C>A c.(178-180)ATC>ATA p.I60I DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Silent_p.I60I|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Silent_p.I60I|STK19_uc010jtn.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN serine/threonine kinase 19 isoform 2 60 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(4) 4 GGGAGCCAATCCGCGGCCGGC 0.706 NA 12 52 5.50884e-06 6.04854e-06 0.001368 1 0 LRFN2 57497 broad.mit.edu 37 6 40400486 40400486 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:40400486G>T uc003oph.1 - 2 832 c.367C>A c.(367-369)CTG>ATG p.L123M NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 123 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) AGGTTGACCAGGCCCCGGAGG 0.587 NA 26 16 4.72057e-08 5.4374e-08 0.003954 1 0 SLC22A7 10864 broad.mit.edu 37 6 43270068 43270068 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:43270068C>T uc003out.2 + 8 1291 c.1192C>T c.(1192-1194)CGC>TGC p.R398C SLC22A7_uc010jyl.1_Missense_Mutation_p.R399C|SLC22A7_uc003ous.2_Missense_Mutation_p.R396C NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 398 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTTGTCGGTGCGCTACGCAGG 0.637 NA 4 33 0 0 0.009096 0 0 XPO5 57510 broad.mit.edu 37 6 43496605 43496605 + Silent SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:43496605T>C uc003ovp.2 - 24 2947 c.2736A>G c.(2734-2736)GTA>GTG p.V912V POLR1C_uc003ovo.1_Intron NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 912 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GGATGGGGGATACCAGGGCTT 0.468 NA 3 22 0 0 0.004672 0 0 GPR116 221395 broad.mit.edu 37 6 46836805 46836805 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:46836805G>A uc003oyo.3 - 12 1725 c.1436C>T c.(1435-1437)CCA>CTA p.P479L GPR116_uc011dwj.1_Missense_Mutation_p.P34L|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.P337L|GPR116_uc003oyq.3_Missense_Mutation_p.P479L|GPR116_uc010jzi.1_Missense_Mutation_p.P151L NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 479 Ig-like 3.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) AACAGAAATTGGGTCCGGGGT 0.353 NSCLC(59;410 1274 8751 36715 50546) NA 17 17 0 0 0.006122 0 0 GPR115 221393 broad.mit.edu 37 6 47681570 47681570 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:47681570G>A uc003oza.1 + 6 847 c.589G>A c.(589-591)GCA>ACA p.A197T GPR115_uc003oyz.1_Missense_Mutation_p.A254T|GPR115_uc003ozb.1_Missense_Mutation_p.A195T NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 197 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 CCTCGACACAGCAGCCATTTC 0.413 GBM(22;431 510 9010 26644 32828) NA 71 57 0 0 0.00361 0 0 PGK2 5232 broad.mit.edu 37 6 49753867 49753867 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:49753867C>A uc003ozu.2 - 1 1141 c.1034G>T c.(1033-1035)TGG>TTG p.W345L NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 345 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) AAAGGCATCCCATTCAAATAC 0.478 NA 113 109 2.20344e-50 2.88839e-50 0.00361 1 0 PGK2 5232 broad.mit.edu 37 6 49754423 49754423 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:49754423C>A uc003ozu.2 - 1 585 c.478G>T c.(478-480)GTC>TTC p.V160F NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 160 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) TTGACATAGACGTCCCCTAGC 0.488 NA 15 113 2.32078e-09 2.73137e-09 0.003163 1 0 HCRTR2 3062 broad.mit.edu 37 6 55113517 55113517 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:55113517C>A uc003pcl.2 + 2 619 c.304C>A c.(304-306)CTC>ATC p.L102I HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.L37I NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 102 Helical; Name=2; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GGCTGATGTGCTCGTGACCAT 0.458 NA 46 104 6.48837e-15 8.12025e-15 0.002522 1 0 DST 667 broad.mit.edu 37 6 56371299 56371299 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:56371299C>A uc003pdf.2 - 71 13077 c.13049G>T c.(13048-13050)CGG>CTG p.R4350L DST_uc003pcz.3_Missense_Mutation_p.R4172L|DST_uc011dxj.1_Missense_Mutation_p.R4201L|DST_uc011dxk.1_Missense_Mutation_p.R4212L|DST_uc003pcy.3_Missense_Mutation_p.R3846L NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6258 Spectrin 13. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTGTCAATCCGGTCTTTCCA 0.413 NA 4 17 5.9392e-07 6.67422e-07 0.001168 1 0 DST 667 broad.mit.edu 37 6 56400064 56400064 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:56400064C>A uc003pdf.2 - 57 10468 c.10440G>T c.(10438-10440)CAG>CAT p.Q3480H DST_uc003pcz.3_Missense_Mutation_p.Q3302H|DST_uc011dxj.1_Missense_Mutation_p.Q3331H|DST_uc011dxk.1_Missense_Mutation_p.Q3342H|DST_uc003pcy.3_Missense_Mutation_p.Q2976H NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5388 Spectrin 7. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCAAGGCCTCCTGCAGCTGGG 0.517 NA 22 33 8.10497e-08 9.31847e-08 0.010504 1 0 BCKDHB 594 broad.mit.edu 37 6 80910666 80910666 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:80910666T>A uc003pjd.2 + 7 825 c.758T>A c.(757-759)ATA>AAA p.I253K BCKDHB_uc003pje.2_Missense_Mutation_p.I253K NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 253 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GAAGTCCCTATAGAACCATAC 0.428 NA 13 49 0 0 0.003163 0 0 IBTK 25998 broad.mit.edu 37 6 82927845 82927845 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:82927845A>T uc003pjl.1 - 10 1785 c.1258T>A c.(1258-1260)TGG>AGG p.W420R IBTK_uc011dyv.1_Missense_Mutation_p.W420R|IBTK_uc011dyw.1_Missense_Mutation_p.W420R|IBTK_uc010kbi.1_Missense_Mutation_p.W114R|IBTK_uc003pjm.2_Missense_Mutation_p.W420R NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 420 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) ACTGATCTCCAGCAAAACACC 0.348 NA 14 21 0 0 0.003163 0 0 FUT9 10690 broad.mit.edu 37 6 96651162 96651162 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:96651162C>T uc003pop.3 + 3 472 c.131C>T c.(130-132)GCC>GTC p.A44V NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 44 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ATGGAATCAGCCAGCTCTGTG 0.403 Melanoma(98;1369 1476 6592 22940 26587) NA 6 62 0 0 0.001168 0 0 ASCC3 10973 broad.mit.edu 37 6 101049771 101049771 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:101049771C>T uc003pqk.2 - 34 5547 c.5218G>A c.(5218-5220)GCT>ACT p.A1740T NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1740 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTACCACCAGCAATCTCTGCA 0.383 NA 26 79 0 0 0.00632 0 0 CDC40 51362 broad.mit.edu 37 6 110528759 110528759 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:110528759A>T uc003pua.2 + 4 481 c.457A>T c.(457-459)ATT>TTT p.I153F NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 153 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) TGCTAAATATATTGGTTCTGT 0.289 NA 7 83 0 0 0.00308 0 0 CDC40 51362 broad.mit.edu 37 6 110533348 110533348 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:110533348A>G uc003pua.2 + 7 764 c.740A>G c.(739-741)TAT>TGT p.Y247C NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 247 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) AAAGAAATGTATGACTATCAA 0.338 NA 21 43 0 0 0.010504 0 0 HDAC2 3066 broad.mit.edu 37 6 114279863 114279863 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:114279863C>A uc003pwd.1 - 3 515 c.515G>T c.(514-516)CGG>CTG p.R172L HDAC2_uc003pwc.1_Missense_Mutation_p.R48L|HDAC2_uc003pwe.1_Missense_Mutation_p.R48L NM_001527 NP_001518 Q92769 HDAC2_HUMAN histone deacetylase 2 78 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding skin(2)|ovary(1)|central_nervous_system(1) 4 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) TCTTATTGACCGTAGAAATTT 0.348 NA 28 98 8.16721e-17 1.03252e-16 0.002096 1 0 C6orf174 387104 broad.mit.edu 37 6 127836062 127836062 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:127836062T>C uc003qbd.2 - 3 2097 c.1232A>G c.(1231-1233)TAC>TGC p.Y411C NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 411 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) GCGGAGGCGGTACTGCAGGAT 0.602 NA 12 114 0 0 0.000978 0 0 LAMA2 3908 broad.mit.edu 37 6 129835636 129835636 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:129835636G>A uc003qbn.2 + 63 9212 c.9107G>A c.(9106-9108)CGC>CAC p.R3036H LAMA2_uc003qbo.2_Missense_Mutation_p.R3032H|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 3036 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATCAAACACCGCATTGAGCTC 0.507 NA 6 61 0 0 0.001984 0 0 SAMD3 154075 broad.mit.edu 37 6 130530745 130530745 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:130530745T>C uc003qbv.2 - 6 604 c.278A>G c.(277-279)GAT>GGT p.D93G SAMD3_uc003qbx.2_Missense_Mutation_p.D93G|SAMD3_uc003qbw.2_Missense_Mutation_p.D93G|SAMD3_uc010kfg.1_Missense_Mutation_p.D93G|SAMD3_uc003qby.2_Missense_Mutation_p.D93G|SAMD3_uc003qbz.1_Missense_Mutation_p.D52G NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 93 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GGACTCTTCATCCCTGTAACT 0.463 NA 17 20 0 0 0.00499 0 0 VTA1 51534 broad.mit.edu 37 6 142539636 142539636 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:142539636G>A uc003qiw.2 + 8 795 c.780G>A c.(778-780)GGG>GGA p.G260G VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Silent_p.G175G NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 260 Interaction with VPS4B (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TTCTTCTAGGGGATGTTCGTC 0.368 NA 9 28 0 0 0.008291 0 0 RAB32 10981 broad.mit.edu 37 6 146870795 146870795 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:146870795A>G uc003qln.1 + 2 626 c.446A>G c.(445-447)AAG>AGG p.K149R NM_006834 NP_006825 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 149 protein transport|small GTPase mediated signal transduction mitochondrion GTP binding 0 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) GACCAGAACAAGGACAGTAGC 0.463 NA 18 58 0 0 0.006122 0 0 STXBP5 134957 broad.mit.edu 37 6 147635025 147635025 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:147635025C>A uc003qlz.2 + 12 1312 c.1151C>A c.(1150-1152)CCT>CAT p.P384H STXBP5_uc010khz.1_Missense_Mutation_p.P384H|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.P55H NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 384 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TAAAGATATCCTATATTTGAA 0.279 NA 5 30 1.23904e-05 1.35089e-05 0.000602 1 0 SASH1 23328 broad.mit.edu 37 6 148869642 148869642 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:148869642T>G uc003qme.1 + 20 4167 c.3692T>G c.(3691-3693)CTC>CGC p.L1231R SASH1_uc003qmf.1_Missense_Mutation_p.L641R NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1231 SAM 2. protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) ATAAGAAAGCTCCTATCTGCA 0.587 NA 15 55 0 0 0.003163 0 0 TIAM2 26230 broad.mit.edu 37 6 155465914 155465914 + Splice_Site SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:155465914T>C uc003qqb.2 + 8 3076 c.1803_splice c.e8+2 p.Q601_splice TIAM2_uc003qqe.2_Splice_Site_p.Q601_splice|TIAM2_uc010kjj.2_Splice_Site_p.Q134_splice NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTTTTCCAGGTACTGCTGGTA 0.393 NA 17 82 0 0 0.008871 0 0 FNDC1 84624 broad.mit.edu 37 6 159653935 159653935 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:159653935C>T uc010kjv.2 + 11 2591 c.2391C>T c.(2389-2391)GGC>GGT p.G797G FNDC1_uc010kjw.1_Silent_p.G682G NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 797 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) GGGAAGACGGCGGAAGGCAGG 0.637 NA 3 16 0 0 0.004672 0 0 PNLDC1 154197 broad.mit.edu 37 6 160238159 160238159 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:160238159A>G uc003qsx.1 + 15 1271 c.1100A>G c.(1099-1101)CAC>CGC p.H367R PNLDC1_uc003qsy.1_Missense_Mutation_p.H378R NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 367 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AAAGTGGCACACTTGCTTCTA 0.393 NA 8 53 0 0 0.006214 0 0 LPA 4018 broad.mit.edu 37 6 160999570 160999570 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:160999570C>A uc003qtl.2 - 28 4576 c.4456G>T c.(4456-4458)GCT>TCT p.A1486S NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3994 Kringle 35. 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) TCAGAAGGAGCCTCTGTGCTT 0.483 NA 30 81 1.06801e-11 1.29874e-11 0.009535 1 0 MAP3K4 4216 broad.mit.edu 37 6 161519335 161519335 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:161519335C>T uc003qtn.2 + 17 3692 c.3550C>T c.(3550-3552)CGG>TGG p.R1184W MAP3K4_uc010kkc.1_Missense_Mutation_p.R1180W|MAP3K4_uc003qto.2_Intron|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.R637W|MAP3K4_uc003qtp.2_Intron|MAP3K4_uc003qtq.2_5'Flank NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1184 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TTCCGACGCGCGGAGCCATGG 0.418 NA 37 188 0 0 0.00623 0 0 PARK2 5071 broad.mit.edu 37 6 162206910 162206910 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:162206910G>A uc003qtx.3 - 7 899 c.765C>T c.(763-765)TCC>TCT p.S255S PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Silent_p.S64S|PARK2_uc003qtw.3_Silent_p.S64S|PARK2_uc003qty.3_Silent_p.S227S|PARK2_uc003qtz.3_Silent_p.S106S|PARK2_uc010kke.1_Silent_p.S255S|PARK2_uc011egf.1_5'UTR NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 255 RING-type 1; atypical. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TCACGTGGCGGGAGTTGCACT 0.502 NA 5 22 0 0 0.001168 0 0 HEATR2 54919 broad.mit.edu 37 7 769461 769461 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:769461C>T uc010krz.1 + 2 777 c.757C>T c.(757-759)CGA>TGA p.R253* PRKAR1B_uc003siw.1_5'Flank|HEATR2_uc003siz.2_Nonsense_Mutation_p.R121* NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 253 HEAT 3. protein binding skin(1) 1 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) TTTTGCTCAGCGACTGTTTGA 0.547 NA 10 49 0 0 0.001368 0 0 SNX8 29886 broad.mit.edu 37 7 2311559 2311559 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:2311559C>T uc003slw.2 - 4 509 c.466G>A c.(466-468)GTC>ATC p.V156I NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 156 PX. cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) ACCAGGTTGACGAAGCGCTTC 0.642 NA 11 39 0 0 0.008291 0 0 LFNG 3955 broad.mit.edu 37 7 2565886 2565886 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:2565886A>G uc003smf.2 + 6 847 c.830A>G c.(829-831)CAC>CGC p.H277R LFNG_uc003smg.2_Missense_Mutation_p.H277R NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN lunatic fringe isoform a 277 Lumenal (Potential). organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) AGCGGGGGTCACTTCATGAAT 0.677 NA 32 41 0 0 0.002836 0 0 WIPI2 26100 broad.mit.edu 37 7 5265457 5265457 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:5265457C>T uc003snv.2 + 9 960 c.744C>T c.(742-744)TGC>TGT p.C248C WIPI2_uc003snw.2_Silent_p.C248C|WIPI2_uc003snx.2_Silent_p.C230C|WIPI2_uc003sny.2_Silent_p.C230C|WIPI2_uc010ksv.2_Silent_p.C104C|WIPI2_uc003soa.2_Silent_p.C189C|WIPI2_uc003sob.2_5'UTR NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 248 WD 2. autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding ovary(2) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TCCCCAGGTGCGTGAGCATCT 0.617 NA 6 14 0 0 0.001168 0 0 FBXL18 80028 broad.mit.edu 37 7 5541135 5541135 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:5541135G>A uc003soo.2 - 3 859 c.765C>T c.(763-765)AGC>AGT p.S255S FBXL18_uc003son.3_Silent_p.S255S NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 255 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GAGTGCGGTCGCTAAGCACAG 0.652 NA 4 27 0 0 0.009096 0 0 ACTB 60 broad.mit.edu 37 7 5568949 5568949 + Missense_Mutation SNP T T C rs11546912 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:5568949T>C uc003sos.3 - 2 242 c.206A>G c.(205-207)TAC>TGC p.Y69C ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.Y69C|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 69 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CTCGATGGGGTACTTCAGGGT 0.587 NA 14 104 0 0 0.004007 0 0 RNF216 54476 broad.mit.edu 37 7 5769176 5769176 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:5769176G>A uc003soy.1 - 7 1295 c.1105C>T c.(1105-1107)CGC>TGC p.R369C RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_5'UTR|RNF216_uc011jwj.1_5'UTR|RNF216_uc003sox.1_Missense_Mutation_p.R426C NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 369 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ATGAAGCAGCGCTGGTCAAGA 0.478 NA 15 81 0 0 0.006122 0 0 BZW2 28969 broad.mit.edu 37 7 16744220 16744220 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:16744220A>G uc003stl.2 + 11 1335 c.1157A>G c.(1156-1158)CAT>CGT p.H386R BZW2_uc003stm.2_Missense_Mutation_p.H192R|BZW2_uc003stj.2_Missense_Mutation_p.H386R|BZW2_uc003stk.2_Missense_Mutation_p.H310R|BZW2_uc003stp.2_Missense_Mutation_p.H234R|BZW2_uc010kua.2_Intron NM_001159767 NP_001153239 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 386 W2. cell differentiation|nervous system development|RNA metabolic process protein binding ovary(2) 2 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) AAGGAAGCACATGTTGCTAAA 0.328 NA 7 43 0 0 0.001984 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066925 18066925 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:18066925C>G uc003stz.2 - 1 562 c.481G>C c.(481-483)GAG>CAG p.E161Q NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 161 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) TTCTTCCACTCAGGGATATTC 0.443 NA 18 65 0 0 0.006122 0 0 FERD3L 222894 broad.mit.edu 37 7 19184928 19184928 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:19184928G>T uc003suo.1 - 1 117 c.58C>A c.(58-60)CTG>ATG p.L20M uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 20 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 GCCAGGGACAGGTCTGCGACG 0.672 NA 12 36 2.80697e-09 3.29422e-09 0.000978 1 0 ITGB8 3696 broad.mit.edu 37 7 20420306 20420306 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:20420306G>C uc003suu.2 + 5 1358 c.653G>C c.(652-654)TGC>TCC p.C218S ITGB8_uc011jyh.1_Missense_Mutation_p.C83S|ITGB8_uc003sut.2_Missense_Mutation_p.C218S NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 218 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 AATTTAGACTGCATGCCTCCC 0.378 NA 8 82 0 0 0.006214 0 0 DNAH11 8701 broad.mit.edu 37 7 21609753 21609753 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:21609753C>G uc003svc.2 + 7 1292 c.1261C>G c.(1261-1263)CAG>GAG p.Q421E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 421 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGAAAAGGTGCAGGTGGCTGT 0.393 NA Kartagener_syndrome 6 21 0 0 0.001168 0 0 STK31 56164 broad.mit.edu 37 7 23809301 23809301 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:23809301G>A uc003sws.3 + 13 1706 c.1639G>A c.(1639-1641)GCA>ACA p.A547T STK31_uc003swt.3_Missense_Mutation_p.A524T|STK31_uc011jze.1_Missense_Mutation_p.A547T|STK31_uc010kuq.2_Missense_Mutation_p.A524T NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 547 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TTCAGAAGACGCAATGGATAA 0.353 NA 51 93 0 0 0.00361 0 0 MPP6 51678 broad.mit.edu 37 7 24727207 24727207 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:24727207T>C uc003swx.2 + 13 1896 c.1597T>C c.(1597-1599)TGG>CGG p.W533R MPP6_uc003swy.2_Missense_Mutation_p.W533R|MPP6_uc010kur.2_Missense_Mutation_p.W201R NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 533 protein complex assembly protein binding 0 GGAACCACAGTGGGTCCCAAT 0.343 NA 36 125 0 0 0.00623 0 0 HOXA1 3198 broad.mit.edu 37 7 27134073 27134073 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:27134073T>C uc003sye.2 - 2 1088 c.994A>G c.(994-996)ACT>GCT p.T332A HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 332 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 TGGGAGGTAGTCAGAGTGTCT 0.577 NA 4 58 0 0 0.000602 0 0 GLI3 2737 broad.mit.edu 37 7 42005962 42005962 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:42005962C>A uc011kbh.1 - 15 2800 c.2709G>T c.(2707-2709)TCG>TCT p.S903S GLI3_uc011kbg.1_Silent_p.S844S NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 903 S->A: Loss of proteolytic processing. negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TGGAGCGGCGCGAGGCGTCGG 0.721 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 7 29 8.12818e-05 8.69429e-05 0.001984 1 0 POLR2J4 84820 broad.mit.edu 37 7 44005532 44005532 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:44005532A>G uc003tjd.2 - 7 603 c.158T>C c.(157-159)GTG>GCG p.V53A POLR2J4_uc003tjc.2_RNA Homo sapiens cDNA FLJ58900 complete cds, weakly similar to Uroplakin-3B precursor. 0 CTGCTGCGCCACCCGCAGTCT 0.607 NA 13 31 0 0 0.003163 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579292 44579292 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:44579292G>T uc003tlb.2 - 2 760 c.704C>A c.(703-705)CCT>CAT p.P235H NPC1L1_uc003tlc.2_Missense_Mutation_p.P235H|NPC1L1_uc011kbw.1_Missense_Mutation_p.P235H|NPC1L1_uc003tld.2_Missense_Mutation_p.P235H NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 235 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) CTCATTCAGAGGCTGAATCCC 0.612 NA 13 78 9.31168e-06 1.0188e-05 0.001855 1 0 MYO1G 64005 broad.mit.edu 37 7 45011817 45011817 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:45011817C>A uc003tmh.2 - 6 770 c.626G>T c.(625-627)AGA>ATA p.R209I MYO1G_uc003tmg.2_5'UTR|MYO1G_uc010kym.2_Missense_Mutation_p.R94I|MYO1G_uc003tmi.1_Missense_Mutation_p.R121I|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 209 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 CTCACTGCCTCTCAGCAACTA 0.512 NA 11 87 6.40141e-05 6.87682e-05 0.000978 1 0 C7orf57 136288 broad.mit.edu 37 7 48080957 48080957 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:48080957C>T uc003toh.3 + 3 294 c.82C>T c.(82-84)CGC>TGC p.R28C C7orf57_uc003toi.3_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 28 ovary(1) 1 CCCAGTGAAGCGCTCTGAGAA 0.582 NA 6 54 0 0 0.00308 0 0 ABCA13 154664 broad.mit.edu 37 7 48349667 48349667 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:48349667C>A uc003toq.2 + 24 9470 c.9445C>A c.(9445-9447)CCA>ACA p.P3149T ABCA13_uc010kys.1_Missense_Mutation_p.P223T|ABCA13_uc003tos.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3149 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTGTAGCCTGCCAGGGTCAAA 0.488 NA 103 140 1.04275e-50 1.36833e-50 0.00361 1 0 ZNF716 441234 broad.mit.edu 37 7 57529293 57529294 + Missense_Mutation DNP GG GG CT TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:57529293_57529294GG>CT uc011kdi.1 + 4 1238_1239 c.1126_1127GG>CT c.(1126-1128)GGA>CTA p.G376L NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 GATTCATACTGGAGAGAAACCC 0.411 NA 6 23 0 0 0.004672 0 0 ZNF117 51351 broad.mit.edu 37 7 64439817 64439817 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:64439817A>G uc003ttr.2 - 4 1417 c.132T>C c.(130-132)TAT>TAC p.Y44Y NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 44 GY -> RH (in Ref. 4; AAA58666). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) GTAAATTCTCATATCCACATT 0.353 NA 5 46 0 0 0.001168 0 0 NSUN5 55695 broad.mit.edu 37 7 72717935 72717935 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:72717935C>T uc003txw.2 - 8 1069 c.1033G>A c.(1033-1035)GCG>ACG p.A345T FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.A345T|NSUN5_uc003txx.2_Missense_Mutation_p.A307T|NSUN5_uc011kev.1_Missense_Mutation_p.A345T NM_018044 NP_060514 Q96P11 NSUN5_HUMAN NOL1/NOP2/Sun domain family, member 5 isoform 2 345 methyltransferase activity 0 Lung NSC(55;0.163) AAAGTGAGCGCGTGGCACAGG 0.657 NA 15 45 0 0 0.004007 0 0 PCLO 27445 broad.mit.edu 37 7 82585510 82585510 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:82585510T>A uc003uhx.2 - 5 5048 c.4759A>T c.(4759-4761)AGC>TGC p.S1587C PCLO_uc003uhv.2_Missense_Mutation_p.S1587C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1518 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCAGTACTGCTACTAATCTCT 0.408 NA 34 117 0 0 0.003271 0 0 DMTF1 9988 broad.mit.edu 37 7 86811589 86811589 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:86811589G>A uc003uih.2 + 10 1082 c.756G>A c.(754-756)GCG>GCA p.A252A DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Silent_p.A164A|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.A252A|DMTF1_uc003uin.2_5'UTR NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 252 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) TAGGGGCGGCGCTAGGAAGAA 0.458 NA 5 74 0 0 0.000602 0 0 ABCB1 5243 broad.mit.edu 37 7 87195421 87195421 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:87195421G>T uc003uiz.1 - 8 1085 c.667C>A c.(667-669)CCT>ACT p.P223T ABCB1_uc011khc.1_Missense_Mutation_p.P159T NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 223 ABC transmembrane type-1 1.|Helical; (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCAAGAACAGGACTGATGGCC 0.463 NA 19 53 2.39187e-15 3.00555e-15 0.008871 1 0 ANKIB1 54467 broad.mit.edu 37 7 92020624 92020624 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:92020624G>C uc003ulw.2 + 16 2573 c.2197G>C c.(2197-2199)GCT>CCT p.A733P ANKIB1_uc010lew.1_Missense_Mutation_p.S19T NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 733 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCGGGGAGTAGCTCCTGCAGA 0.512 NA 10 40 0 0 0.008291 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762906 92762906 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:92762906C>T uc003umh.1 - 5 3595 c.2379G>A c.(2377-2379)CAG>CAA p.Q793Q SAMD9L_uc003umj.1_Silent_p.Q793Q|SAMD9L_uc003umi.1_Silent_p.Q793Q|SAMD9L_uc010lfb.1_Silent_p.Q793Q|SAMD9L_uc003umk.1_Silent_p.Q793Q|SAMD9L_uc010lfc.1_Silent_p.Q793Q|SAMD9L_uc010lfd.1_Silent_p.Q793Q|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 793 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) GAATGTAATCCTGATGGCTCT 0.378 NA 30 108 0 0 0.009535 0 0 CALCR 799 broad.mit.edu 37 7 93098038 93098038 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:93098038G>T uc003umv.1 - 7 825 c.564C>A c.(562-564)TTC>TTA p.F188L CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.F170L|CALCR_uc003umw.2_Missense_Mutation_p.F170L NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 170 Helical; Name=1; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TGAAAAACACGAAAATCCCCA 0.398 NA 35 24 2.52449e-32 3.29534e-32 0.006999 1 0 CALCR 799 broad.mit.edu 37 7 93108766 93108766 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:93108766C>T uc003umv.1 - 4 420 c.159G>A c.(157-159)GAG>GAA p.E53E CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.E35E|CALCR_uc003umw.2_Silent_p.E35E NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 35 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ATGGCTTGGGCTCTATTGTTG 0.423 NA 33 137 0 0 0.002836 0 0 CALCR 799 broad.mit.edu 37 7 93108804 93108804 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:93108804G>T uc003umv.1 - 4 382 c.121C>A c.(121-123)CTT>ATT p.L41I CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.L23I|CALCR_uc003umw.2_Missense_Mutation_p.L23I NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 23 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding p.Y41*(1) ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) AAGGCAGGAAGAATTGGGGTT 0.378 NA 24 118 9.57634e-11 1.15212e-10 0.00333 1 0 TECPR1 25851 broad.mit.edu 37 7 97862899 97862899 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:97862899C>T uc003upg.2 - 11 1711 c.1506G>A c.(1504-1506)TCG>TCA p.S502S TECPR1_uc003uph.1_Silent_p.S432S NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 502 integral to membrane protein binding pancreas(1) 1 AGCCAGCGGCCGAGTGGCTGG 0.687 NA 8 12 0 0 0.004482 0 0 TRRAP 8295 broad.mit.edu 37 7 98543387 98543387 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:98543387C>T uc003upp.2 + 32 4700 c.4491C>T c.(4489-4491)TGC>TGT p.C1497C TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Silent_p.C1189C NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1497 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTTCCGAGTGCGGGAGATGTC 0.373 NA 11 54 0 0 0.000978 0 0 ZAN 7455 broad.mit.edu 37 7 100345264 100345264 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:100345264G>A uc003uwj.2 + 9 1188 c.1023G>A c.(1021-1023)CAG>CAA p.Q341Q ZAN_uc003uwk.2_Silent_p.Q341Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 341 MAM 2.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GACGGATACAGGTACAGAGAA 0.433 NA 13 50 0 0 0.001855 0 0 CUX1 1523 broad.mit.edu 37 7 101747700 101747700 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:101747700A>T uc003uyx.3 + 6 529 c.491A>T c.(490-492)AAG>ATG p.K164M CUX1_uc003uys.3_Missense_Mutation_p.K175M|CUX1_uc003uyt.2_Missense_Mutation_p.K175M|CUX1_uc011kkn.1_Missense_Mutation_p.K138M|CUX1_uc003uyw.2_Missense_Mutation_p.K129M|CUX1_uc003uyv.2_Missense_Mutation_p.K159M|CUX1_uc003uyu.2_Missense_Mutation_p.K175M NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 164 Potential. 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 GCTCTTGAGAAGGAACAGAAG 0.418 NA 7 109 0 0 0.001984 0 0 CUX1 1523 broad.mit.edu 37 7 101755043 101755043 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:101755043G>A uc003uyx.3 + 7 634 c.596G>A c.(595-597)AGC>AAC p.S199N CUX1_uc003uys.3_Missense_Mutation_p.S210N|CUX1_uc003uyt.2_Missense_Mutation_p.S210N|CUX1_uc011kkn.1_Missense_Mutation_p.S173N|CUX1_uc003uyw.2_Missense_Mutation_p.S164N|CUX1_uc003uyv.2_Missense_Mutation_p.S194N|CUX1_uc003uyu.2_Missense_Mutation_p.S210N NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 199 Potential. 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 AAGGTTCAGAGCCTACAAACA 0.562 NA 8 33 0 0 0.00308 0 0 RELN 5649 broad.mit.edu 37 7 103276722 103276722 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:103276722G>A uc003vca.2 - 18 2423 c.2263C>T c.(2263-2265)CGT>TGT p.R755C RELN_uc010liz.2_Missense_Mutation_p.R755C NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 755 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) ATTAGCTGACGCCGCCCATCT 0.433 NSCLC(146;835 1944 15585 22231 52158) NA 7 37 0 0 0.006214 0 0 PUS7 54517 broad.mit.edu 37 7 105142882 105142882 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:105142882T>C uc003vcx.2 - 5 934 c.715A>G c.(715-717)AAA>GAA p.K239E PUS7_uc010lji.2_Missense_Mutation_p.K239E|PUS7_uc003vcy.2_Missense_Mutation_p.K239E|PUS7_uc003vcz.1_Missense_Mutation_p.K239E NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 239 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 AAAGCCTTTTTCCCAGCTGCG 0.532 Colon(138;2387 3051 17860) NA 21 91 0 0 0.004656 0 0 LAMB4 22798 broad.mit.edu 37 7 107743616 107743616 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:107743616G>A uc010ljo.1 - 10 1137 c.1053C>T c.(1051-1053)AGC>AGT p.S351S LAMB4_uc003vey.2_Silent_p.S351S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 351 Laminin EGF-like 2. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TGAGGCCACCGCTTGCCAGGT 0.587 NA 4 12 0 0 0.009096 0 0 C7orf60 154743 broad.mit.edu 37 7 112555439 112555439 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:112555439G>A uc003vgo.1 - 2 351 c.224C>T c.(223-225)GCC>GTC p.A75V C7orf60_uc011kms.1_Missense_Mutation_p.A101V NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 75 ovary(2)|skin(1) 3 CATTGCAACGGCATATTCACA 0.358 NA 5 67 0 0 0.000602 0 0 FOXP2 93986 broad.mit.edu 37 7 114269985 114269985 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:114269985A>G uc003vhb.2 + 5 896 c.522A>G c.(520-522)CAA>CAG p.Q174Q FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q199Q|FOXP2_uc003vha.2_Silent_p.Q82Q|FOXP2_uc011kmu.1_Silent_p.Q191Q|FOXP2_uc011kmv.1_Silent_p.Q174Q|FOXP2_uc010ljz.1_Silent_p.Q82Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q174Q|FOXP2_uc003vgx.2_Silent_p.Q174Q|FOXP2_uc003vhd.2_Silent_p.Q174Q|FOXP2_uc003vhc.2_Silent_p.Q199Q NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 174 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q174*(1) ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 aacaacaacaacagcagcaac 0.164 NA 10 37 0 0 0.000978 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121650420 121650420 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:121650420C>T uc003vjy.2 + 12 1715 c.1320C>T c.(1318-1320)GGC>GGT p.G440G PTPRZ1_uc003vjz.2_Silent_p.G440G|PTPRZ1_uc011knt.1_5'UTR NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 440 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 TTGAAGAAGGCGCTATTGTGA 0.378 NA 14 89 0 0 0.004007 0 0 RNF133 168433 broad.mit.edu 37 7 122338851 122338851 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:122338851T>A uc003vkj.1 - 1 358 c.122A>T c.(121-123)TAT>TTT p.Y41F CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 41 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 TATGTTCATATAAGCCATCCA 0.433 Colon(198;1778 2057 7449 19869 45985) NA 11 116 0 0 0.001368 0 0 FLNC 2318 broad.mit.edu 37 7 128486101 128486101 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:128486101C>T uc003vnz.3 + 22 4057 c.3848C>T c.(3847-3849)ACA>ATA p.T1283I FLNC_uc003voa.3_Missense_Mutation_p.T1283I NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1283 Filamin 11. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CTAACAGCCACAGGCGGCAAC 0.632 NA 11 33 0 0 0.001855 0 0 NRF1 4899 broad.mit.edu 37 7 129394889 129394889 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:129394889G>C uc003voz.2 + 11 1497 c.1380G>C c.(1378-1380)CAG>CAC p.Q460H NRF1_uc003vpa.2_Missense_Mutation_p.Q479H|NRF1_uc011kpa.1_Missense_Mutation_p.Q299H|NRF1_uc003vpb.2_Missense_Mutation_p.Q460H NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 460 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 GCATGTACCAGACTGTGGTGA 0.627 NA 11 74 0 0 0.001368 0 0 KLF14 136259 broad.mit.edu 37 7 130417921 130417921 + Missense_Mutation SNP C C T rs145868754 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:130417921C>T uc003vqk.1 - 1 940 c.940G>A c.(940-942)GGC>AGC p.G314S NM_138693 NP_619638 Q8TD94 KLF14_HUMAN Kruppel-like factor 14 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(18;0.0435) GGCGCCGGGCCGGGACCGGAG 0.627 NA 3 20 0 0 0.000602 0 0 NUP205 23165 broad.mit.edu 37 7 135286203 135286203 + Silent SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:135286203C>G uc003vsw.2 + 17 2491 c.2460C>G c.(2458-2460)CTC>CTG p.L820L NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 820 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 AGCTTGCTCTCAGTTTACTGG 0.403 NA 26 126 0 0 0.005443 0 0 SLC13A4 26266 broad.mit.edu 37 7 135376328 135376328 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:135376328G>A uc003vta.2 - 12 1975 c.1286C>T c.(1285-1287)GCG>GTG p.A429V SLC13A4_uc003vtb.2_Missense_Mutation_p.A430V|PL-5283_uc003vsz.3_RNA NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate 429 Helical; (Potential). integral to plasma membrane sodium:sulfate symporter activity 0 GGGCTTCTTCGCTGGAATGAG 0.473 NA 4 59 0 0 0.001168 0 0 TRY6 154754 broad.mit.edu 37 7 142480049 142480049 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:142480049G>A uc011ksq.1 + 2 264 c.181G>A c.(181-183)GCA>ACA p.A61T uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|uc003wan.1_Intron|TRY6_uc011kso.1_RNA|TRY6_uc011ksr.1_RNA NR_001296 SubName: Full=Protease, serine, 3; Flags: Fragment; 0 GGTGGTGTCAGCAGGTCACTG 0.577 NA 14 61 0 0 0.007413 0 0 TRPV6 55503 broad.mit.edu 37 7 142569486 142569486 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:142569486C>T uc003wbx.1 - 15 2368 c.2152G>A c.(2152-2154)GGG>AGG p.G718R TRPV6_uc003wbw.1_Missense_Mutation_p.G504R|TRPV6_uc010lou.1_Missense_Mutation_p.G589R NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 718 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CAGCTCTCCCCGTCCTCCAGA 0.527 NA 7 104 0 0 0.00308 0 0 OR9A2 135924 broad.mit.edu 37 7 142724022 142724022 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:142724022A>T uc003wcc.1 - 1 198 c.198T>A c.(196-198)TCT>TCA p.S66S NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) TCTCCAGGGTAGAGAGGTGGC 0.458 NA 29 95 0 0 0.007291 0 0 CLCN1 1180 broad.mit.edu 37 7 143018908 143018908 + Silent SNP G G A rs147317366 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:143018908G>A uc003wcr.1 + 5 750 c.663G>A c.(661-663)GCG>GCA p.A221A CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_Silent_p.A69A NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 221 Helical; (By similarity). 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) CCCTGACTGCGGGCCTGGGCA 0.587 NA 4 60 0 0 0.009096 0 0 CLCN1 1180 broad.mit.edu 37 7 143028329 143028329 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:143028329C>A uc003wcr.1 + 9 1071 c.984C>A c.(982-984)ACC>ACA p.T328T CLCN1_uc011ktc.1_5'UTR NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 328 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) CTACAGTCACCATCACTGCTC 0.493 NA 36 63 5.71845e-15 7.17112e-15 0.005524 1 0 ZYX 7791 broad.mit.edu 37 7 143079711 143079711 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:143079711A>T uc003wcw.2 + 4 589 c.434A>T c.(433-435)GAT>GTT p.D145V ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Missense_Mutation_p.D145V|ZYX_uc011kte.1_Intron|ZYX_uc011ktf.1_5'UTR NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 145 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) AGCAGTATTGATTTGGAGATC 0.557 NA 14 217 0 0 0.003163 0 0 OR2A12 346525 broad.mit.edu 37 7 143792215 143792215 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:143792215G>T uc011kty.1 + 1 15 c.15G>T c.(13-15)CAG>CAT p.Q5H NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) AAAGCAATCAGACCTGGATCA 0.398 NA 8 34 0.00307968 0.0032006 0.00308 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147183130 147183130 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:147183130A>G uc003weu.1 + 11 2290 c.1774A>G c.(1774-1776)AAC>GAC p.N592D NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 592 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CACCTGCCACAACTGTGAGTG 0.453 NA HNSCC(39;0.1) 19 40 0 0 0.00278 0 0 C7orf33 202865 broad.mit.edu 37 7 148311279 148311279 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:148311279G>C uc003wew.2 + 2 711 c.350G>C c.(349-351)AGG>ACG p.R117T NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 117 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CCAGGCACCAGGATGGGCTTG 0.537 NA 13 71 0 0 0.00245 0 0 ZNF777 27153 broad.mit.edu 37 7 149129388 149129388 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:149129388T>C uc003wfv.2 - 6 2138 c.1975A>G c.(1975-1977)ACG>GCG p.T659A NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CGCTCACCCGTGTGCGTGATC 0.632 NA 30 194 0 0 0.002096 0 0 KRBA1 84626 broad.mit.edu 37 7 149426440 149426440 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:149426440T>C uc003wfz.2 + 14 2189 c.1790T>C c.(1789-1791)GTG>GCG p.V597A KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_Intron|KRBA1_uc003wgb.2_Intron NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 597 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGCCAGGAGTGTGGAGGTGG 0.617 NA 6 11 0 0 0.001168 0 0 SSPO 23145 broad.mit.edu 37 7 149474866 149474866 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:149474866C>T uc010lpk.2 + 5 665 c.665C>T c.(664-666)GCG>GTG p.A222V SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 222 VWFD 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TACCTGCTGGCGGGTGCTGCG 0.687 NA 3 11 0 0 0.009096 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325462 150325462 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:150325462A>G uc003whn.2 - 3 648 c.224T>C c.(223-225)GTG>GCG p.V75A GIMAP6_uc003whm.2_Intron NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 75 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTCTTGGTCACGGGTCTGGT 0.577 NA 46 202 0 0 0.002522 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389519 150389519 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:150389519G>C uc003who.2 + 3 233 c.145G>C c.(145-147)GAA>CAA p.E49Q GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 49 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAAGCATTTGAATCGAAGCT 0.478 NA 7 57 0 0 0.001984 0 0 ABCF2 10061 broad.mit.edu 37 7 150921105 150921105 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:150921105C>A uc003wjp.2 - 4 574 c.463G>T c.(463-465)GAC>TAC p.D155Y ABCF2_uc003wjo.1_Missense_Mutation_p.D155Y NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 155 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTGTCTTGTCACTAGGGGGC 0.557 NA 16 69 1.15088e-07 1.31589e-07 0.004007 1 0 MLL3 58508 broad.mit.edu 37 7 151921652 151921652 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:151921652A>G uc003wla.2 - 19 3245 c.3026T>C c.(3025-3027)GTG>GCG p.V1009A MLL3_uc003wkz.2_Missense_Mutation_p.V70A NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1009 PHD-type 5.|PHD-type 4. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGCCTCACACACAGTGCACTC 0.448 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 5 31 0 0 0.000602 0 0 ESYT2 57488 broad.mit.edu 37 7 158552753 158552753 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr7:158552753T>A uc003wob.1 - 12 1529 c.1463A>T c.(1462-1464)GAC>GTC p.D488V ESYT2_uc003woc.1_Missense_Mutation_p.D312V|ESYT2_uc003wod.1_Missense_Mutation_p.D488V|ESYT2_uc003woa.1_Missense_Mutation_p.D44V NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 516 integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 CAGCACCTTGTCGAGGTTTGA 0.448 NA 10 49 0 0 0.000978 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1824883 1824883 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:1824883A>C uc003wpr.2 + 8 1004 c.826A>C c.(826-828)AGC>CGC p.S276R ARHGEF10_uc003wpq.1_Missense_Mutation_p.S301R|ARHGEF10_uc003wps.2_Missense_Mutation_p.S277R|ARHGEF10_uc003wpt.2_Missense_Mutation_p.S191R|ARHGEF10_uc003wpv.2_Missense_Mutation_p.S48R NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 301 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CTTCCTGCGCAGCAACCACAA 0.502 NA 9 104 0 0 0.008291 0 0 MYOM2 9172 broad.mit.edu 37 8 2041800 2041800 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:2041800C>T uc003wpx.3 + 17 2145 c.2007C>T c.(2005-2007)TTC>TTT p.F669F MYOM2_uc011kwi.1_Silent_p.F94F NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 669 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TTCTCAGGTTCGTGGTGCACG 0.498 NA 11 86 0 0 0.000978 0 0 CSMD1 64478 broad.mit.edu 37 8 2857501 2857501 + Nonsense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:2857501C>A uc011kwk.1 - 53 8575 c.8185G>T c.(8185-8187)GGA>TGA p.G2729* CSMD1_uc011kwj.1_Nonsense_Mutation_p.G2058*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.G739* NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2729 Extracellular (Potential).|Sushi 18. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCGTTTGTCCAGACCACTTG 0.473 NA 36 127 8.69298e-16 1.09343e-15 0.006999 1 0 SGK223 157285 broad.mit.edu 37 8 8234784 8234784 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:8234784C>T uc003wsh.3 - 2 1135 c.1135G>A c.(1135-1137)GGC>AGC p.G379S NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 379 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CCTGGGCAGCCAGGGTCCTGC 0.682 GBM(34;731 755 10259 33573 33867) NA 12 32 0 0 0.001368 0 0 RP1L1 94137 broad.mit.edu 37 8 10470481 10470481 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:10470481A>G uc003wtc.2 - 4 1356 c.1127T>C c.(1126-1128)TTC>TCC p.F376S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 376 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGCTCTGAGAAGCCCCAAGG 0.677 NA 22 125 0 0 0.00278 0 0 SOX7 83595 broad.mit.edu 37 8 10583693 10583693 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:10583693G>A uc003wtf.2 - 2 801 c.722C>T c.(721-723)CCG>CTG p.P241L SOX7_uc011kwz.1_Missense_Mutation_p.P293L NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 241 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) CGGTGAGTACGGGTGCCCTGG 0.687 NA 12 31 0 0 0.004007 0 0 XKR6 286046 broad.mit.edu 37 8 10756150 10756150 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:10756150C>T uc003wtk.1 - 3 1265 c.1238G>A c.(1237-1239)TGG>TAG p.W413* NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 413 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GATCTCCTCCCACTTGGACAT 0.488 NA 9 30 0 0 0.004482 0 0 PCM1 5108 broad.mit.edu 37 8 17823602 17823602 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:17823602C>A uc003wyi.3 + 19 3372 c.2950C>A c.(2950-2952)CTT>ATT p.L984I PCM1_uc011kyh.1_Missense_Mutation_p.L984I|PCM1_uc003wyj.3_Missense_Mutation_p.L985I NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 984 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) GCAAGAAAACCTTCGTTGGGT 0.403 NA T RET|JAK2 papillary thyroid|CML|MPD 5 30 0.000602214 0.000638666 0.000602 1 0 PCM1 5108 broad.mit.edu 37 8 17823622 17823622 + Silent SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:17823622C>G uc003wyi.3 + 19 3392 c.2970C>G c.(2968-2970)CTC>CTG p.L990L PCM1_uc011kyh.1_Silent_p.L990L|PCM1_uc003wyj.3_Silent_p.L991L NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 990 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) TGTCAGAGCTCTCTTACGTAG 0.413 NA T RET|JAK2 papillary thyroid|CML|MPD 3 21 0 0 0.004672 0 0 NEFM 4741 broad.mit.edu 37 8 24776003 24776003 + Missense_Mutation SNP G G A rs140995374 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:24776003G>A uc003xed.3 + 3 2668 c.2635G>A c.(2635-2637)GTC>ATC p.V879I NEFM_uc011lac.1_Missense_Mutation_p.V661I|NEFM_uc010lue.2_Missense_Mutation_p.V503I NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 879 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ATCTGTAACCGTCACTCAAAA 0.413 NA 10 64 0 0 0.008291 0 0 GOT1L1 137362 broad.mit.edu 37 8 37794833 37794833 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:37794833G>C uc011lbj.1 - 4 581 c.481C>G c.(481-483)CTA>GTA p.L161V NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 161 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity ovary(1) 1 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) TCCATGCATAGCTTCTTGGGG 0.542 NA 4 9 0 0 0.000602 0 0 SNTG1 54212 broad.mit.edu 37 8 51617225 51617225 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:51617225G>A uc010lxy.1 + 17 1475 c.1104G>A c.(1102-1104)CTG>CTA p.L368L SNTG1_uc003xqs.1_Silent_p.L368L|SNTG1_uc010lxz.1_Silent_p.L368L|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 368 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GGGAGGACCTGTACTTCTCAG 0.547 NA 38 31 0 0 0.006999 0 0 PXDNL 137902 broad.mit.edu 37 8 52359577 52359577 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:52359577A>G uc003xqu.3 - 12 1613 c.1512T>C c.(1510-1512)ACT>ACC p.T504T NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 504 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGGGTTTTACAGTCAGCTGCA 0.438 NA 35 102 0 0 0.005524 0 0 SOX17 64321 broad.mit.edu 37 8 55370831 55370831 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:55370831A>G uc003xsb.3 + 1 337 c.133A>G c.(133-135)AAG>GAG p.K45E NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 45 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CATGAAGGTGAAGGGCGAGGC 0.736 NA 4 12 0 0 0.009096 0 0 TGS1 96764 broad.mit.edu 37 8 56715024 56715024 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:56715024A>G uc003xsj.3 + 9 2245 c.1858A>G c.(1858-1860)AAA>GAA p.K620E TGS1_uc010lyh.2_Missense_Mutation_p.K524E NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 620 Lys-rich. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) AGCTGAAGTgaaaaagaagaa 0.308 Esophageal Squamous(34;275 823 4842 34837 48447) NA 11 43 0 0 0.000978 0 0 NKAIN3 286183 broad.mit.edu 37 8 63492148 63492148 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:63492148G>T uc010lyq.1 + 2 237 c.105G>T c.(103-105)GCG>GCT p.A35A NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 35 Helical; (Potential). integral to membrane|plasma membrane 0 Breast(64;0.127) Lung NSC(129;0.187) TCCAGTGGGCGCCTATTCTTG 0.378 NA 49 71 6.31075e-24 8.20332e-24 0.00361 1 0 CSPP1 79848 broad.mit.edu 37 8 68062151 68062151 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:68062151T>G uc003xxi.2 + 18 2230 c.2199T>G c.(2197-2199)GAT>GAG p.D733E CSPP1_uc003xxg.1_Missense_Mutation_p.D725E|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.D698E|CSPP1_uc003xxk.2_Intron NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 733 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) ACCTAGAAGATGCTGCAAATA 0.323 NA 41 114 0 0 0.00623 0 0 KCNB2 9312 broad.mit.edu 37 8 73480526 73480526 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:73480526C>A uc003xzb.2 + 2 1145 c.557C>A c.(556-558)CCT>CAT p.P186H NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 186 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CTGGAGAAACCTAACTCATCA 0.448 NA 12 103 0.00010058 0.000107493 0.001368 1 0 HNF4G 3174 broad.mit.edu 37 8 76470886 76470886 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:76470886A>T uc003yaq.2 + 8 996 c.726A>T c.(724-726)GCA>GCT p.A242A HNF4G_uc003yar.2_Silent_p.A279A NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 242 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GTTTAAAGGCAATTGTATTTT 0.318 NA 22 233 0 0 0.00278 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617020 77617020 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:77617020C>G uc003yav.2 + 2 1084 c.697C>G c.(697-699)CGA>GGA p.R233G ZFHX4_uc003yat.1_Missense_Mutation_p.R233G|ZFHX4_uc003yau.1_Missense_Mutation_p.R233G|ZFHX4_uc003yaw.1_Missense_Mutation_p.R233G NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 233 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) CTATGATCTCCGACACAAGAG 0.468 NA HNSCC(33;0.089) 10 37 0 0 0.008291 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765790 77765790 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:77765790G>C uc003yav.2 + 10 6885 c.6498G>C c.(6496-6498)CAG>CAC p.Q2166H ZFHX4_uc003yau.1_Missense_Mutation_p.Q2211H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2166H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2166 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) TTGATCCACAGCCCACCTCTT 0.373 NA HNSCC(33;0.089) 23 129 0 0 0.001882 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766839 77766839 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:77766839C>A uc003yav.2 + 10 7934 c.7547C>A c.(7546-7548)CCT>CAT p.P2516H ZFHX4_uc003yau.1_Missense_Mutation_p.P2561H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2516H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2516 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) CAAATGCCCCCTCAGGCCAGT 0.488 NA HNSCC(33;0.089) 13 91 7.93312e-07 8.86685e-07 0.00245 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768303 77768303 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:77768303A>G uc003yav.2 + 10 9398 c.9011A>G c.(9010-9012)TAC>TGC p.Y3004C ZFHX4_uc003yau.1_Missense_Mutation_p.Y3049C|ZFHX4_uc003yaw.1_Missense_Mutation_p.Y3004C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3004 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) GAGAAAGATTACTTGGCTCCG 0.517 NA HNSCC(33;0.089) 14 109 0 0 0.00245 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775752 77775752 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:77775752C>A uc003yav.2 + 11 10054 c.9667C>A c.(9667-9669)CCT>ACT p.P3223T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3219 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) ATACTTTATCCCTGGGTTTGC 0.493 NA HNSCC(33;0.089) 22 165 4.26978e-12 5.21256e-12 0.00333 1 0 Unknown 0 broad.mit.edu 37 8 86567320 86567320 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:86567320C>T uc003ydl.1 - 1 586 c.499G>A c.(499-501)GAC>AAC p.D167N NM_172239 NP_758439 exonuclease GOR NA ATGTCGGCGTCCACCACGGTG 0.587 NA 7 126 0 0 0.001984 0 0 PSKH2 85481 broad.mit.edu 37 8 87076615 87076615 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:87076615T>C uc011lfy.1 - 2 431 c.431A>G c.(430-432)GAG>GGG p.E144G NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 144 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) ATCAAAGAGCTCCCCTCCGGT 0.522 NA 11 50 0 0 0.001368 0 0 NBN 4683 broad.mit.edu 37 8 90965679 90965679 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:90965679T>A uc003yej.1 - 11 1748 c.1638A>T c.(1636-1638)AGA>AGT p.R546S NBN_uc003yei.1_Missense_Mutation_p.R464S|NBN_uc011lgb.1_Missense_Mutation_p.R546S NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 546 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) TTTTATTTGATCTTAGCTTTT 0.333 NA Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 49 42 0 0 0.00361 0 0 NBN 4683 broad.mit.edu 37 8 90976659 90976659 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:90976659G>A uc003yej.1 - 8 1083 c.973C>T c.(973-975)CCT>TCT p.P325S NBN_uc003yei.1_Missense_Mutation_p.P243S|NBN_uc011lgb.1_Missense_Mutation_p.P325S NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 325 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) TGGCCCTGAGGATCACAGTAA 0.333 NA Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 22 56 0 0 0.00278 0 0 TMEM67 91147 broad.mit.edu 37 8 94793932 94793932 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:94793932A>T uc011lgk.1 + 10 1096 c.1025A>T c.(1024-1026)AAT>ATT p.N342I TMEM67_uc010mat.1_Missense_Mutation_p.N257I|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.N261I NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 342 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) ATAAGAGGAAATTTTCTCAAG 0.323 NA 9 31 0 0 0.006214 0 0 VPS13B 157680 broad.mit.edu 37 8 100712139 100712139 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:100712139A>G uc003yiv.2 + 36 6619 c.6508A>G c.(6508-6510)AAG>GAG p.K2170E VPS13B_uc003yiw.2_Missense_Mutation_p.K2145E NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2170 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCTTAGTGTCAAGGCAACACA 0.423 Colon(161;2205 2542 7338 31318) NA 11 40 0 0 0.000978 0 0 VPS13B 157680 broad.mit.edu 37 8 100844718 100844718 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:100844718A>G uc003yiv.2 + 52 9638 c.9527A>G c.(9526-9528)GAT>GGT p.D3176G VPS13B_uc003yiw.2_Missense_Mutation_p.D3151G NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3176 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCAGTACTGGATGCATCCCTG 0.532 Colon(161;2205 2542 7338 31318) NA 6 17 0 0 0.001168 0 0 VPS13B 157680 broad.mit.edu 37 8 100844812 100844812 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:100844812A>G uc003yiv.2 + 52 9732 c.9621A>G c.(9619-9621)AGA>AGG p.R3207R VPS13B_uc003yiw.2_Silent_p.R3182R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3207 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTATAGTTAGACCAGAGTTTC 0.483 Colon(161;2205 2542 7338 31318) NA 10 58 0 0 0.000978 0 0 UBR5 51366 broad.mit.edu 37 8 103273473 103273473 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:103273473A>G uc003ykr.1 - 56 7890 c.7857T>C c.(7855-7857)CCT>CCC p.P2619P UBR5_uc003yks.1_Silent_p.P2618P|UBR5_uc003ykq.2_Silent_p.P130P NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2619 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTACACCATTAGGAATGAGTT 0.348 Ovarian(131;96 1741 5634 7352 27489) NA 17 101 0 0 0.006122 0 0 ZFPM2 23414 broad.mit.edu 37 8 106456593 106456593 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:106456593C>A uc003ymd.2 + 3 308 c.285C>A c.(283-285)GAC>GAA p.D95E NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 95 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTGAGACAGACGACTGGGATG 0.433 NA 7 10 0.00198382 0.00207558 0.001984 1 0 ZFPM2 23414 broad.mit.edu 37 8 106813864 106813864 + Silent SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:106813864T>A uc003ymd.2 + 8 1577 c.1554T>A c.(1552-1554)GCT>GCA p.A518A ZFPM2_uc011lhs.1_Silent_p.A249A NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 518 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGATCTTAGCTAAGATGTCTG 0.502 NA 33 125 0 0 0.009535 0 0 EIF3E 3646 broad.mit.edu 37 8 109241348 109241348 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:109241348T>C uc003ymu.2 - 6 576 c.548A>G c.(547-549)GAT>GGT p.D183G EIF3E_uc003ymt.2_Missense_Mutation_p.D134G|EIF3E_uc003ymv.2_Missense_Mutation_p.D90G|EIF3E_uc010mci.1_Missense_Mutation_p.D183G NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 183 Sufficient for interaction with TRIM27. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) CATGGCTGCATCCCAATTCTG 0.368 GBM(15;360 410 8460 34179 52246) NA 13 83 0 0 0.00245 0 0 KCNV1 27012 broad.mit.edu 37 8 110980804 110980804 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:110980804A>G uc003ynr.3 - 3 1358 c.1016T>C c.(1015-1017)ATC>ACC p.I339T KCNV1_uc010mcw.2_Missense_Mutation_p.I339T NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 339 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ACACTGGGTGATTGTCATCCC 0.348 NA 5 72 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113299373 113299373 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:113299373G>T uc003ynu.2 - 58 9410 c.9251C>A c.(9250-9252)ACT>AAT p.T3084N CSMD3_uc003yns.2_Missense_Mutation_p.T2286N|CSMD3_uc003ynt.2_Missense_Mutation_p.T3044N|CSMD3_uc011lhx.1_Missense_Mutation_p.T2915N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3084 Extracellular (Potential).|Sushi 22. 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 GATGTAACCAGTATCACAAGC 0.458 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 53 34 5.39261e-20 6.93734e-20 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 113301759 113301759 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:113301759A>T uc003ynu.2 - 57 9142 c.8983T>A c.(8983-8985)TGT>AGT p.C2995S CSMD3_uc003yns.2_Missense_Mutation_p.C2197S|CSMD3_uc003ynt.2_Missense_Mutation_p.C2955S|CSMD3_uc011lhx.1_Missense_Mutation_p.C2826S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2995 Sushi 21.|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 GGGTGTCCACAGTCAATCACT 0.373 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 24 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113304920 113304920 + Silent SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:113304920A>T uc003ynu.2 - 55 8793 c.8634T>A c.(8632-8634)CCT>CCA p.P2878P CSMD3_uc003yns.2_Silent_p.P2080P|CSMD3_uc003ynt.2_Silent_p.P2838P|CSMD3_uc011lhx.1_Silent_p.P2709P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2878 Extracellular (Potential).|Sushi 19. 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 TTGGACTACCAGGGTGACCAC 0.368 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 48 0 0 0.006214 0 0 CSMD3 114788 broad.mit.edu 37 8 113418912 113418912 + Missense_Mutation SNP G G C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:113418912G>C uc003ynu.2 - 35 5809 c.5650C>G c.(5650-5652)CCA>GCA p.P1884A CSMD3_uc003yns.2_Missense_Mutation_p.P1086A|CSMD3_uc003ynt.2_Missense_Mutation_p.P1844A|CSMD3_uc011lhx.1_Missense_Mutation_p.P1780A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1884 Sushi 10.|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 CCGAATCTTGGTTCAGGCACA 0.343 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 51 31 0 0 0.00361 0 0 CSMD3 114788 broad.mit.edu 37 8 113657345 113657345 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:113657345A>T uc003ynu.2 - 20 3462 c.3303T>A c.(3301-3303)CAT>CAA p.H1101Q CSMD3_uc003yns.2_Missense_Mutation_p.H373Q|CSMD3_uc003ynt.2_Missense_Mutation_p.H1061Q|CSMD3_uc011lhx.1_Missense_Mutation_p.H997Q NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1101 Extracellular (Potential).|CUB 6. 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 TACCTTTTCCATGGGTTACAT 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 43 0 0 0.006214 0 0 CSMD3 114788 broad.mit.edu 37 8 113678554 113678554 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:113678554C>T uc003ynu.2 - 17 2927 c.2768G>A c.(2767-2769)TGG>TAG p.W923* CSMD3_uc003yns.2_Nonsense_Mutation_p.W195*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W883*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W819* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 923 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 TTCAATCACCCACTCACAATT 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 29 0 0 0.000602 0 0 TRPS1 7227 broad.mit.edu 37 8 116631829 116631829 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:116631829C>A uc003ynz.2 - 2 916 c.457G>T c.(457-459)GAT>TAT p.D153Y TRPS1_uc011lhy.1_Missense_Mutation_p.D157Y|TRPS1_uc003yny.2_Missense_Mutation_p.D166Y|TRPS1_uc010mcy.2_Missense_Mutation_p.D153Y NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 153 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) ATCTTCTGATCTTCCTTTGTC 0.522 NA Langer-Giedion_syndrome 15 91 0.00316338 0.00328484 0.003163 1 0 ZHX1 11244 broad.mit.edu 37 8 124266208 124266208 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:124266208C>A uc003yqe.2 - 3 2409 c.1979G>T c.(1978-1980)AGT>ATT p.S660I C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.S660I|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.S660I NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 660 Homeobox 4. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CTTGCCTGTACTCCCTGACTT 0.438 NA 20 132 3.51602e-12 4.30081e-12 0.008871 1 0 ATAD2 29028 broad.mit.edu 37 8 124382167 124382167 + Missense_Mutation SNP A A T rs149531312 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:124382167A>T uc003yqh.3 - 7 933 c.825T>A c.(823-825)GAT>GAA p.D275E ATAD2_uc011lii.1_Missense_Mutation_p.D66E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D275E NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 275 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) cttcatcatcatcatcatcat 0.179 NA 8 25 0 0 0.00308 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192474 133192474 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:133192474C>T uc003ytj.2 - 4 932 c.707G>A c.(706-708)CGC>CAC p.R236H KCNQ3_uc010mdt.2_Missense_Mutation_p.R236H NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 236 Helical; Voltage-sensor; Name=Segment S4; (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCGCAGCATGCGCAGGATCTG 0.582 NA 19 106 0 0 0.007413 0 0 COL22A1 169044 broad.mit.edu 37 8 139620214 139620214 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:139620214C>T uc003yvd.2 - 57 4444 c.3997G>A c.(3997-3999)GGA>AGA p.G1333R COL22A1_uc011ljo.1_Missense_Mutation_p.G613R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1333 Pro-rich.|Gly-rich.|Collagen-like 13. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTGGAGATCCCGGTGATCCA 0.433 NA HNSCC(7;0.00092) 9 44 0 0 0.006214 0 0 DMRT1 1761 broad.mit.edu 37 9 968124 968124 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:968124C>A uc003zgv.2 + 5 1256 c.1107C>A c.(1105-1107)ATC>ATA p.I369I NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 369 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) CTCCCGTCATCGAGGAGGACG 0.522 NA 10 35 7.48243e-07 8.39327e-07 0.006214 1 0 DMRT3 58524 broad.mit.edu 37 9 990347 990347 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:990347T>A uc003zgw.1 + 2 799 c.761T>A c.(760-762)GTG>GAG p.V254E NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 254 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.V254E(1) ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CCGCTTGAAGTGTTAAAAAAG 0.572 NA 53 41 0 0 0.00361 0 0 RCL1 10171 broad.mit.edu 37 9 4849480 4849480 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:4849480G>A uc003zis.2 + 8 1159 c.901G>A c.(901-903)GCG>ACG p.A301T RCL1_uc003zit.2_Missense_Mutation_p.A143T|RCL1_uc010mhk.1_Missense_Mutation_p.A143T|RCL1_uc010mhl.1_Missense_Mutation_p.A115T NM_005772 NP_005763 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 301 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) CCAAAGCCTGGCGCTACTACT 0.438 NA 6 33 0 0 0.001984 0 0 PTPRD 5789 broad.mit.edu 37 9 8517921 8517921 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:8517921G>A uc003zkk.2 - 20 2181 c.1470C>T c.(1468-1470)GTC>GTT p.V490V PTPRD_uc003zkp.2_Silent_p.V490V|PTPRD_uc003zkq.2_Silent_p.V490V|PTPRD_uc003zkr.2_Silent_p.V484V|PTPRD_uc003zks.2_Silent_p.V480V|PTPRD_uc003zkl.2_Silent_p.V490V|PTPRD_uc003zkm.2_Silent_p.V477V|PTPRD_uc003zkn.2_Silent_p.V490V|PTPRD_uc003zko.2_Silent_p.V487V NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 490 Fibronectin type-III 2.|Extracellular (Potential). 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) CCAGGACTTTGACAGAATATG 0.438 NA TSP Lung(15;0.13) 26 83 0 0 0.003954 0 0 KIAA1797 54914 broad.mit.edu 37 9 20912903 20912903 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:20912903A>G uc003zog.1 + 25 3120 c.2757A>G c.(2755-2757)GGA>GGG p.G919G KIAA1797_uc003zoh.1_Silent_p.G355G NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 919 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TAAAACATGGAAAAGAAGAAC 0.428 NA 20 25 0 0 0.002299 0 0 TOPORS 10210 broad.mit.edu 37 9 32542019 32542019 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:32542019T>C uc003zrb.2 - 3 2671 c.2504A>G c.(2503-2505)AAC>AGC p.N835S TOPORS_uc003zrc.2_Missense_Mutation_p.N768S NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 835 Interaction with TOP1. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ATTTTTGTAGTTTCCATCCAA 0.413 NA 8 173 0 0 0.004482 0 0 C9orf131 138724 broad.mit.edu 37 9 35044946 35044946 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:35044946A>G uc003zvw.2 + 2 2349 c.2320A>G c.(2320-2322)ACC>GCC p.T774A C9orf131_uc003zvu.2_Missense_Mutation_p.T726A|C9orf131_uc003zvv.2_Missense_Mutation_p.T701A|C9orf131_uc003zvx.2_Missense_Mutation_p.T739A NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 774 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) AGAGTTGCTCACCCATCCTGG 0.592 NA 26 111 0 0 0.004656 0 0 TPM2 7169 broad.mit.edu 37 9 35682149 35682149 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:35682149T>C uc003zxq.2 - 9 1023 c.784A>G c.(784-786)AGT>GGT p.S262G TPM2_uc003zxr.2_3'UTR NM_213674 NP_998839 P07951 TPM2_HUMAN tropomyosin 2 (beta) isoform 2 262 By similarity. muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle ovary(1) 1 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCTTGGCACTGGCCAAGGTC 0.607 NA 20 30 0 0 0.010504 0 0 FAM75A6 389730 broad.mit.edu 37 9 43626696 43626696 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:43626696C>T uc011lrb.1 - 4 2020 c.1991G>A c.(1990-1992)TGC>TAC p.C664Y NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 664 integral to membrane 0 CAGATGTGGGCACAGGTCCCT 0.567 NA 67 162 0 0 0.00361 0 0 TRPM6 140803 broad.mit.edu 37 9 77397757 77397757 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:77397757A>G uc004ajl.1 - 22 3170 c.2932T>C c.(2932-2934)TTC>CTC p.F978L TRPM6_uc004ajk.1_Missense_Mutation_p.F973L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.F264L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 978 Helical; (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 ACAATATAGAACATGTTTGCT 0.443 NA 12 42 0 0 0.001368 0 0 PCSK5 5125 broad.mit.edu 37 9 78771962 78771962 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:78771962G>T uc004ajz.2 + 11 1852 c.1314G>T c.(1312-1314)GTG>GTT p.V438V PCSK5_uc004ajy.2_Silent_p.V438V|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 438 Catalytic. 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 TTTCCACAGTGAGCCATCTTT 0.522 NA 31 77 6.04164e-23 7.84531e-23 0.002096 1 0 VPS13A 23230 broad.mit.edu 37 9 79898509 79898509 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:79898509C>T uc004akr.2 + 31 3542 c.3282C>T c.(3280-3282)AAC>AAT p.N1094N VPS13A_uc004akp.3_Silent_p.N1094N|VPS13A_uc004akq.3_Silent_p.N1094N|VPS13A_uc004aks.2_Silent_p.N1055N NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1094 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 CTGAAATAAACGCAAAGCTAA 0.284 NA 10 22 0 0 0.000978 0 0 VPS13A 23230 broad.mit.edu 37 9 79930204 79930204 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:79930204A>C uc004akr.2 + 38 4708 c.4448A>C c.(4447-4449)GAC>GCC p.D1483A VPS13A_uc004akp.3_Missense_Mutation_p.D1483A|VPS13A_uc004akq.3_Missense_Mutation_p.D1483A|VPS13A_uc004aks.2_Missense_Mutation_p.D1444A|VPS13A_uc004akt.2_5'Flank|VPS13A_uc010mpo.1_Missense_Mutation_p.D79A NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1483 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 GACAAAAAAGACATGATGGAT 0.348 NA 19 52 0 0 0.010504 0 0 KIF27 55582 broad.mit.edu 37 9 86474140 86474140 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:86474140C>A uc004ana.2 - 14 3225 c.3081G>T c.(3079-3081)AAG>AAT p.K1027N KIF27_uc010mpw.2_Missense_Mutation_p.K961N|KIF27_uc010mpx.2_Missense_Mutation_p.K930N NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 1027 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 GGAGCTGATCCTTTTCTTTCT 0.413 NA 20 103 1.55795e-14 1.94197e-14 0.001882 1 0 SLC28A3 64078 broad.mit.edu 37 9 86920183 86920184 + Missense_Mutation DNP CC CC AA TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:86920183_86920184CC>AA uc010mpz.2 - 4 444_445 c.319_320GG>TT c.(319-321)GGC>TTC p.G107F SLC28A3_uc011lsy.1_Missense_Mutation_p.G38F|SLC28A3_uc004anu.1_Missense_Mutation_p.G107F|SLC28A3_uc010mqb.2_Missense_Mutation_p.G38F NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 107 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 TAATAAAATGCCCCAGATGATG 0.366 Ovarian(106;425 1539 34835 42413 43572) NA 10 57 0 0 0.004672 0 0 LOC286238 286238 broad.mit.edu 37 9 91262457 91262457 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:91262457C>A uc010mql.1 - 2 319 c.186G>T c.(184-186)ATG>ATT p.M62I NM_001100111 NP_001093581 hypothetical protein LOC286238 0 AATGAGTTATCATCTCTCCTG 0.438 NA 18 58 5.03518e-11 6.08724e-11 0.007413 1 0 C9orf102 375748 broad.mit.edu 37 9 98684621 98684621 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:98684621A>G uc004avt.3 + 8 1755 c.1367A>G c.(1366-1368)TAT>TGT p.Y456C C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.Y158C|C9orf102_uc010mry.1_Missense_Mutation_p.Y158C|C9orf102_uc010mrz.2_Missense_Mutation_p.Y267C|C9orf102_uc004avu.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 456 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) AAAACCTTGTATCTCAGTTAC 0.388 NA 7 27 0 0 0.00308 0 0 KIAA1529 57653 broad.mit.edu 37 9 100079414 100079414 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:100079414C>T uc011lut.1 + 21 2185 c.1412C>T c.(1411-1413)TCC>TTC p.S471F KIAA1529_uc004axe.1_Missense_Mutation_p.S471F|KIAA1529_uc004axg.1_Missense_Mutation_p.S332F|KIAA1529_uc011lus.1_Missense_Mutation_p.S289F|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.S332F|KIAA1529_uc011luv.1_Missense_Mutation_p.S329F NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) CTGATGGAGTCCACCCTGCAG 0.607 NA 8 105 0 0 0.006214 0 0 RNF20 56254 broad.mit.edu 37 9 104314667 104314667 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:104314667A>G uc004bbn.2 + 13 1623 c.1533A>G c.(1531-1533)ACA>ACG p.T511T NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 511 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) TCTCCCAGACACGCCTGCGTA 0.458 NA 46 157 0 0 0.00361 0 0 AKNA 80709 broad.mit.edu 37 9 117122002 117122002 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:117122002C>T uc004biq.3 - 10 2499 c.2364G>A c.(2362-2364)GAG>GAA p.E788E AKNA_uc004bin.3_Silent_p.E35E|AKNA_uc004bio.3_Silent_p.E248E|AKNA_uc004bip.3_Silent_p.E707E|AKNA_uc004bir.3_Silent_p.E788E|AKNA_uc004bis.3_Silent_p.E788E|AKNA_uc010mve.2_Silent_p.E669E|AKNA_uc004biu.1_Silent_p.E529E|AKNA_uc004biv.1_Silent_p.E788E NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 788 PEST. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 ccccctcttcctcctcctcct 0.458 NA 9 31 0 0 0.004482 0 0 RC3H2 54542 broad.mit.edu 37 9 125617600 125617600 + Missense_Mutation SNP A A C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:125617600A>C uc010mwc.1 - 15 2919 c.2678T>G c.(2677-2679)ATA>AGA p.I893R RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.I893R|RC3H2_uc004bne.3_Missense_Mutation_p.I893R NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 893 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 AAAGGGAATTATTGGATCTTC 0.423 NA 9 53 0 0 0.004482 0 0 METTL11A 28989 broad.mit.edu 37 9 132396449 132396449 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:132396449G>A uc004byd.1 + 3 473 c.279G>A c.(277-279)ACG>ACA p.T93T METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_Silent_p.T93T NM_014064 NP_054783 Q9BV86 NTM1A_HUMAN methyltransferase like 11A 93 S-adenosyl-L-methionine binding. chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization nucleus protein binding|protein methyltransferase activity 0 TCGACATAACGGAGGACTTCC 0.602 NA 23 110 0 0 0.002299 0 0 PRDM12 59335 broad.mit.edu 37 9 133542019 133542019 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:133542019T>A uc004bzt.1 + 2 308 c.248T>A c.(247-249)GTG>GAG p.V83E NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN PR domain containing 12 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) TCCAGCCTGGTGCTGCCTGCG 0.687 NA 7 94 0 0 0.00308 0 0 ABL1 25 broad.mit.edu 37 9 133760409 133760409 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:133760409G>T uc004bzw.2 + 11 2735 c.2732G>T c.(2731-2733)GGA>GTA p.G911V ABL1_uc004bzv.2_Missense_Mutation_p.G930V NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 911 DNA-binding (By similarity).|Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GGGAAGGCTGGAGGAAAGCCC 0.642 NA T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 16 25 4.14922e-12 5.07036e-12 0.004007 1 0 POMT1 10585 broad.mit.edu 37 9 134398399 134398399 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:134398399G>A uc004cav.2 + 20 2352 c.2150G>A c.(2149-2151)CGC>CAC p.R717H POMT1_uc004cax.2_Missense_Mutation_p.R695H|POMT1_uc011mcj.1_Missense_Mutation_p.R435H|POMT1_uc004cau.2_Missense_Mutation_p.R695H|POMT1_uc004caw.2_Missense_Mutation_p.R641H|POMT1_uc011mck.1_Missense_Mutation_p.R578H|POMT1_uc011mcl.1_Missense_Mutation_p.R543H|POMT1_uc011mcm.1_Missense_Mutation_p.R665H NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 717 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) AACACGCTGCGCCCACTCACC 0.597 NA 4 25 0 0 0.009096 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134504533 134504533 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:134504533C>T uc004cbc.2 - 7 928 c.798G>A c.(796-798)GCG>GCA p.A266A RAPGEF1_uc004cbb.2_Silent_p.A284A|RAPGEF1_uc010mzm.2_5'Flank|RAPGEF1_uc010mzn.2_Silent_p.A271A|RAPGEF1_uc004cbd.2_Silent_p.A271A NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 266 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GCTTGGGGGGCGCGACCTCTT 0.542 NA 17 71 0 0 0.00499 0 0 SETX 23064 broad.mit.edu 37 9 135187144 135187144 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:135187144C>T uc004cbk.2 - 11 5557 c.5374G>A c.(5374-5376)GTT>ATT p.V1792I SETX_uc004cbj.2_Missense_Mutation_p.V1411I|SETX_uc010mzt.2_Missense_Mutation_p.V1411I NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1792 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AAAAACTTACCTGCAAACTCC 0.338 NA 7 32 0 0 0.001984 0 0 GFI1B 8328 broad.mit.edu 37 9 135864570 135864570 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:135864570G>A uc004ccg.2 + 5 784 c.633G>A c.(631-633)ACG>ACA p.T211T GFI1B_uc010mzy.2_Intron NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 211 C2H2-type 2.|Mediates interaction with GATA1.|Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) AGCAGCACACGCACGTCCACT 0.672 NA 14 54 0 0 0.004007 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136412196 136412196 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:136412196G>A uc011mdl.1 + 9 1357 c.800G>A c.(799-801)GGC>GAC p.G267D ADAMTSL2_uc004cei.2_Missense_Mutation_p.G267D NM_001145320 NP_001138792 Q86TH1 ATL2_HUMAN ADAMTS-like 2 precursor 267 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) TTCTTCAACGGCAACTACAAG 0.562 NA 44 280 0 0 0.00361 0 0 KCNT1 57582 broad.mit.edu 37 9 138657025 138657025 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:138657025C>T uc011mdq.1 + 12 1258 c.1184C>T c.(1183-1185)GCC>GTC p.A395V KCNT1_uc011mdr.1_Missense_Mutation_p.A222V|KCNT1_uc010nbf.2_Missense_Mutation_p.A350V|KCNT1_uc004cgo.1_Missense_Mutation_p.A144V NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 395 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GAGTTCTACGCCCACCCCCGG 0.632 NA 19 98 0 0 0.002299 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301953 139301953 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:139301953A>T uc004chi.2 - 5 668 c.463T>A c.(463-465)TAT>AAT p.Y155N SDCCAG3_uc004chj.2_Missense_Mutation_p.Y132N|SDCCAG3_uc004chk.2_Missense_Mutation_p.Y82N NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 155 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) TCCAGGCCATACCCGCCGGTT 0.537 NA 4 24 0 0 0.009096 0 0 NOTCH1 4851 broad.mit.edu 37 9 139395128 139395128 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:139395128C>T uc004chz.2 - 31 5810 c.5810G>A c.(5809-5811)CGC>CAC p.R1937H NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1937 Cytoplasmic (Potential).|ANK 1. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGTGAGTAGCGGGCGGCCAG 0.677 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 41 194 0 0 0.00361 0 0 WDR85 92715 broad.mit.edu 37 9 140458994 140458994 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:140458994C>A uc004cnk.1 - 8 999 c.841G>T c.(841-843)GTG>TTG p.V281L WDR85_uc004cnj.1_Missense_Mutation_p.V10L|WDR85_uc004cnl.1_Missense_Mutation_p.V105L|WDR85_uc004cnm.1_Missense_Mutation_p.V42L|WDR85_uc004cnn.1_Missense_Mutation_p.V10L|WDR85_uc010ncl.1_Missense_Mutation_p.V42L NM_138778 NP_620133 Q9BTV6 WDR85_HUMAN WD repeat domain 85 281 peptidyl-diphthamide biosynthetic process from peptidyl-histidine 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509) CCACCCTGCACAGGCGTATCT 0.527 NA 20 122 5.26018e-13 6.47246e-13 0.001882 1 0 EHMT1 79813 broad.mit.edu 37 9 140693355 140693355 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:140693355G>A uc011mfc.1 + 17 2633 c.2596G>A c.(2596-2598)GTC>ATC p.V866I NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 866 ANK 4. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) ACAGATGGACGTCAACTGTCA 0.557 NA 12 71 0 0 0.001368 0 0 GYG2 8908 broad.mit.edu 37 X 2773172 2773172 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:2773172G>A uc004cqs.1 + 6 838 c.556G>A c.(556-558)GCC>ACC p.A186T GYG2_uc004cqt.1_Missense_Mutation_p.A155T|GYG2_uc004cqu.1_Missense_Mutation_p.A155T|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.A146T|GYG2_uc004cqx.1_Missense_Mutation_p.A155T|GYG2_uc010ndc.1_5'UTR NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 186 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCTACAGCACGCCATGGAACA 0.443 NA 22 22 0 0 0.00278 0 0 GRPR 2925 broad.mit.edu 37 X 16168617 16168617 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:16168617C>T uc004cxj.2 + 2 1256 c.603C>T c.(601-603)CAC>CAT p.H201H NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 201 Extracellular (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) CATACCCACACTCTAATGAGC 0.483 NA 11 61 0 0 0.001368 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29417281 29417281 + Missense_Mutation SNP A A T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:29417281A>T uc004dby.2 + 5 1067 c.559A>T c.(559-561)ACA>TCA p.T187S NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 187 Ig-like C2-type 2.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GGAATGCAGGACAAAAACATG 0.284 NA 10 21 0 0 0.008291 0 0 FAM47B 170062 broad.mit.edu 37 X 34961569 34961569 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:34961569G>T uc004ddi.1 + 1 639 c.621G>T c.(619-621)CCG>CCT p.P207P NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 207 Pro-rich. ovary(3)|breast(1) 4 CCAAGACTCCGGTGTCCAGTC 0.652 NA 32 32 1.30897e-18 1.66669e-18 0.009535 1 0 MAGEB16 139604 broad.mit.edu 37 X 35820879 35820879 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:35820879C>G uc010ngt.1 + 2 845 c.566C>G c.(565-567)ACC>AGC p.T189S NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 189 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 CTGGGCCTCACCTATGATGGG 0.527 NA 7 16 0 0 0.001984 0 0 MID1IP1 58526 broad.mit.edu 37 X 38664362 38664362 + Nonsense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:38664362G>T uc004dei.3 + 3 587 c.163G>T c.(163-165)GAG>TAG p.E55* MID1IP1_uc010ngz.2_Nonsense_Mutation_p.E55*|MID1IP1_uc004dej.3_Nonsense_Mutation_p.E55* NM_001098790 NP_001092260 Q9NPA3 M1IP1_HUMAN MID1 interacting G12-like protein 55 lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization cytosol|microtubule|nucleus 0 TGTTGGCGTGGAGGTAGGCGG 0.657 NA 9 7 7.48243e-07 8.39327e-07 0.006214 1 0 HUWE1 10075 broad.mit.edu 37 X 53564572 53564572 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:53564572C>G uc004dsp.2 - 78 12484 c.12082G>C c.(12082-12084)GAA>CAA p.E4028Q HUWE1_uc004dsn.2_Missense_Mutation_p.E2836Q|HUWE1_uc004dsq.1_Missense_Mutation_p.E328Q NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4028 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TAGGAGTCTTCAAACACATGG 0.527 NA 4 9 0 0 0.009096 0 0 ITIH5L 347365 broad.mit.edu 37 X 54785244 54785244 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:54785244C>A uc004dtj.2 - 8 1293 c.1263G>T c.(1261-1263)AGG>AGT p.R421S NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 421 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 AAAGGGATACCCTGTGGCCTA 0.597 NA 11 9 0.00185496 0.00194567 0.001855 1 0 ATP7A 538 broad.mit.edu 37 X 77286968 77286968 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:77286968T>C uc004ecx.3 + 16 3342 c.3182T>C c.(3181-3183)GTT>GCT p.V1061A NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1061 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 CAAGTAAAGGTTCTAACTGAA 0.383 NA 22 66 0 0 0.001882 0 0 BRWD3 254065 broad.mit.edu 37 X 79984377 79984377 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:79984377C>A uc004edt.2 - 14 1523 c.1260G>T c.(1258-1260)AAG>AAT p.K420N BRWD3_uc004edo.2_Missense_Mutation_p.K16N|BRWD3_uc004edp.2_Missense_Mutation_p.K249N|BRWD3_uc004edq.2_Missense_Mutation_p.K16N|BRWD3_uc010nmj.1_Missense_Mutation_p.K16N|BRWD3_uc004edr.2_Missense_Mutation_p.K90N|BRWD3_uc004eds.2_Missense_Mutation_p.K16N|BRWD3_uc004edu.2_Missense_Mutation_p.K90N|BRWD3_uc004edv.2_Missense_Mutation_p.K16N|BRWD3_uc004edw.2_Missense_Mutation_p.K16N|BRWD3_uc004edx.2_Missense_Mutation_p.K16N|BRWD3_uc004edy.2_Missense_Mutation_p.K16N|BRWD3_uc004edz.2_Missense_Mutation_p.K90N|BRWD3_uc004eea.2_Missense_Mutation_p.K90N|BRWD3_uc004eeb.2_Missense_Mutation_p.K16N NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 420 ovary(4) 4 GTTTAGTGATCTTGTCTTCTC 0.333 NA 21 19 3.01185e-09 3.53133e-09 0.003954 1 0 ZNF711 7552 broad.mit.edu 37 X 84526120 84526120 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:84526120G>T uc004eeo.2 + 9 1919 c.1572G>T c.(1570-1572)ATG>ATT p.M524I ZNF711_uc004eep.2_Missense_Mutation_p.M524I|ZNF711_uc004eeq.2_Missense_Mutation_p.M570I|ZNF711_uc011mqy.1_Missense_Mutation_p.M123I NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 524 C2H2-type 4. M -> T. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 AGAAACATATGAGAACCCATA 0.393 NA 14 14 4.3838e-07 4.96219e-07 0.001855 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177480 89177480 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:89177480C>A uc004efe.2 + 2 445 c.396C>A c.(394-396)GCC>GCA p.A132A NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 132 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 ATGCCCATGCCACCCACCTGC 0.582 NA 21 15 2.32416e-17 2.94425e-17 0.002299 1 0 PCDH19 57526 broad.mit.edu 37 X 99661862 99661862 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:99661862G>T uc010nmz.2 - 1 3410 c.1734C>A c.(1732-1734)CCC>CCA p.P578P PCDH19_uc004efw.3_Silent_p.P578P|PCDH19_uc004efx.3_Silent_p.P578P NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 578 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CAGAGTTGCGGGGTATGTAGA 0.582 NA 21 20 5.26018e-13 6.47246e-13 0.001882 1 0 RNF128 79589 broad.mit.edu 37 X 106033443 106033443 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:106033443C>T uc004eml.2 + 5 1165 c.915C>T c.(913-915)GAC>GAT p.D305D RNF128_uc004emk.2_Silent_p.D279D NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 305 RING-type; atypical. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 CATGTGTTGACCCATGGCTGT 0.323 NA 7 64 0 0 0.00308 0 0 COL4A6 1288 broad.mit.edu 37 X 107412728 107412728 + Nonsense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:107412728G>A uc004enw.3 - 37 3794 c.3691C>T c.(3691-3693)CGA>TGA p.R1231* COL4A6_uc004env.3_Nonsense_Mutation_p.R1230*|COL4A6_uc011msn.1_Nonsense_Mutation_p.R1206*|COL4A6_uc010npk.2_Nonsense_Mutation_p.R1206* NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1231 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 GACTCACCTCGATCACCTTTT 0.582 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 18 16 0 0 0.008871 0 0 CHRDL1 91851 broad.mit.edu 37 X 110005980 110005980 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:110005980C>A uc004eou.3 - 3 499 c.150G>T c.(148-150)TGG>TGT p.W50C CHRDL1_uc004eov.2_Missense_Mutation_p.W44C|CHRDL1_uc004eow.2_Missense_Mutation_p.W50C|CHRDL1_uc010nps.2_Missense_Mutation_p.W50C|CHRDL1_uc004eot.2_Missense_Mutation_p.W50C|CHRDL1_uc011mss.1_Missense_Mutation_p.W44C|CHRDL1_uc004eox.3_Missense_Mutation_p.W44C NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 44 VWFC 1. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GGTAAGGATGCCATCTCTCAC 0.443 NA 5 40 4.096e-09 4.79795e-09 0.001168 1 0 CT47B1 643311 broad.mit.edu 37 X 120009217 120009217 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:120009217G>A uc011muc.1 - 1 563 c.308C>T c.(307-309)GCG>GTG p.A103V NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 103 0 GAAGTTGGCCGcctcgttccc 0.577 NA 4 5 0 0 0.000602 0 0 SAGE1 55511 broad.mit.edu 37 X 134991033 134991033 + Missense_Mutation SNP T T G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:134991033T>G uc004ezh.2 + 13 1619 c.1452T>G c.(1450-1452)ATT>ATG p.I484M SAGE1_uc010nry.1_Missense_Mutation_p.I453M|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 484 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) ATGCTACCATTACTCACAGTG 0.443 NA 50 20 0 0 0.00361 0 0 F9 2158 broad.mit.edu 37 X 138642967 138642967 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:138642967C>A uc004fas.1 + 7 820 c.791C>A c.(790-792)ACT>AAT p.T264N F9_uc004fat.1_Missense_Mutation_p.T226N NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 264 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGGATTGTAACTGCTGCCCAC 0.358 NA 55 44 1.19403e-26 1.55537e-26 0.00361 1 0 SLITRK4 139065 broad.mit.edu 37 X 142717407 142717407 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:142717407G>A uc004fbx.2 - 2 1894 c.1518C>T c.(1516-1518)AAC>AAT p.N506N SLITRK4_uc004fby.2_Silent_p.N506N NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 506 Extracellular (Potential).|LRR 12. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) ACATGAATTTGTTGTTCCTCA 0.448 NA 26 91 0 0 0.004656 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717510 142717510 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:142717510A>G uc004fbx.2 - 2 1791 c.1415T>C c.(1414-1416)ATG>ACG p.M472T SLITRK4_uc004fby.2_Missense_Mutation_p.M472T NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 472 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAAATTTGGCATGGAGTCAAA 0.398 NA 55 33 0 0 0.00361 0 0 AFF2 2334 broad.mit.edu 37 X 147743755 147743755 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:147743755A>G uc004fcp.2 + 3 986 c.507A>G c.(505-507)GTA>GTG p.V169V AFF2_uc004fco.2_Silent_p.V165V|AFF2_uc004fcq.2_Silent_p.V165V|AFF2_uc004fcr.2_Silent_p.V165V|AFF2_uc011mxb.1_Silent_p.V169V|AFF2_uc004fcs.2_Silent_p.V165V NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 169 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) CTAGCACTGTACTGGCAAGCC 0.468 NA 55 92 0 0 0.00361 0 0 AFF2 2334 broad.mit.edu 37 X 147891398 147891398 + Splice_Site SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:147891398A>G uc004fcp.2 + 4 1521 c.1042_splice c.e4-2 p.V348_splice AFF2_uc004fco.2_Splice_Site_p.V344_splice|AFF2_uc004fcq.2_Splice_Site_p.V344_splice|AFF2_uc004fcr.2_Splice_Site_p.V344_splice|AFF2_uc011mxb.1_Splice_Site_p.V348_splice|AFF2_uc004fcs.2_Splice_Site_p.V344_splice|AFF2_uc011mxc.1_Splice_Site_p.V18_splice NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 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) ATTTTGTTTCAGGTAAGCCTT 0.343 NA 12 65 0 0 0.001855 0 0 AFF2 2334 broad.mit.edu 37 X 148069036 148069036 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:148069036C>T uc004fcp.2 + 20 4242 c.3763C>T c.(3763-3765)CGG>TGG p.R1255W AFF2_uc004fcq.2_Missense_Mutation_p.R1245W|AFF2_uc004fcr.2_Missense_Mutation_p.R1216W|AFF2_uc011mxb.1_Missense_Mutation_p.R1220W|AFF2_uc004fcs.2_Missense_Mutation_p.R1220W|AFF2_uc011mxc.1_Missense_Mutation_p.R896W NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1255 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) CAATGTGTTACGGGGCTATGA 0.488 NA 34 70 0 0 0.002445 0 0 ATP2B3 492 broad.mit.edu 37 X 152818579 152818579 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:152818579C>T uc004fht.1 + 11 2036 c.1910C>T c.(1909-1911)CCG>CTG p.P637L ATP2B3_uc004fhs.1_Missense_Mutation_p.P637L NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 637 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATCATCGAGCCGATGGCTTGC 0.622 NA 15 33 0 0 0.003163 0 0 L1CAM 3897 broad.mit.edu 37 X 153134138 153134138 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:153134138A>G uc004fjb.2 - 12 1532 c.1424T>C c.(1423-1425)TTC>TCC p.F475S L1CAM_uc004fjc.2_Missense_Mutation_p.F475S|L1CAM_uc010nuo.2_Missense_Mutation_p.F470S|L1CAM_uc004fjd.1_Missense_Mutation_p.F289S NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 475 Extracellular (Potential).|Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCATAGGGGAAGAAGCGTTC 0.612 NA 4 49 0 0 0.009096 0 0 Unknown 0 broad.mit.edu 37 X 155254735 155254735 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:155254735C>G uc004fnx.3 + 8 1085 c.631C>G c.(631-633)CTC>GTC p.L211V NM_182905 NP_878908 WAS protein family homolog 1 NA GATGTCGGATCTCTTCAACAA 0.587 NA 2 4 0 0 0.004672 0 0 GABRD 2563 broad.mit.edu 37 1 1961597 1961598 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:1961597_1961598insG uc001aip.2 + 9 1330_1331 c.1235_1236insG c.(1234-1236)CAGfs p.Q412fs NM_000815 NP_000806 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 412 Cytoplasmic (Probable). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCAGGAGGCCAGGGGGGCATCC 0.678 NA 11 81 --- --- --- --- NA NA NA NA NA PLK3 1263 broad.mit.edu 37 1 45266760 45266761 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:45266760_45266761insT uc001cmn.2 + 3 471_472 c.371_372insT c.(370-372)CGTfs p.R124fs PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 124 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) CACATCGTGCGTTTTTCGCACC 0.545 NA 7 49 --- --- --- --- NA NA NA NA NA C1orf168 199920 broad.mit.edu 37 1 57209836 57209836 + Frame_Shift_Del DEL G G - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:57209836delG uc001cym.3 - 10 1897 c.1491delC c.(1489-1491)TCCfs p.S497fs C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 497 ovary(3)|skin(2) 5 CCTCTTTCCTGGAGTACTCGA 0.418 NA 25 100 --- --- --- --- NA NA NA NA NA ST6GALNAC3 256435 broad.mit.edu 37 1 76877904 76877905 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:76877904_76877905insT uc001dhh.2 + 3 588_589 c.425_426insT c.(424-426)TATfs p.Y142fs ST6GALNAC3_uc001dhg.3_Frame_Shift_Ins_p.Y142fs|ST6GALNAC3_uc010orh.1_Frame_Shift_Ins_p.Y77fs NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 142 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity p.Y142H(1) ovary(3)|skin(2) 5 AACCCTGATTATTTTTTCAAGG 0.411 NA 19 76 --- --- --- --- NA NA NA NA NA STXBP3 6814 broad.mit.edu 37 1 109338865 109338866 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:109338865_109338866insT uc001dvy.2 + 14 1195_1196 c.1120_1121insT c.(1120-1122)CTTfs p.L374fs STXBP3_uc001dvz.2_RNA NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 374 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) GGACCTGGCACTTGGAACTGAT 0.287 NA 18 46 --- --- --- --- NA NA NA NA NA C1orf51 148523 broad.mit.edu 37 1 150255794 150255794 + Frame_Shift_Del DEL G G - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:150255794delG uc001euh.2 + 2 253 c.117delG c.(115-117)AAGfs p.K39fs C1orf51_uc001eui.2_Intron|C1orf51_uc001euj.2_Frame_Shift_Del_p.K39fs NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 39 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGGAGGACAAGGGGGCCCATG 0.592 NA 35 207 --- --- --- --- NA NA NA NA NA RFX5 5993 broad.mit.edu 37 1 151318740 151318741 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:151318740_151318741insG uc001exv.1 - 3 270_271 c.56_57insC c.(55-57)CCAfs p.P19fs RFX5_uc001exw.1_Frame_Shift_Ins_p.P19fs|RFX5_uc009wmr.1_Frame_Shift_Ins_p.P19fs|RFX5_uc010pcx.1_Frame_Shift_Ins_p.P19fs NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCACCACCTGGGGGGGCCCT 0.554 NA 8 198 --- --- --- --- NA NA NA NA NA CD5L 922 broad.mit.edu 37 1 157803024 157803025 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:157803024_157803025insA uc001frk.3 - 5 1139_1140 c.996_997insT c.(994-999)TTTCACfs p.F332fs NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 332_333 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTGCAGTCGTGAAACCCCCAAA 0.55 NA 24 150 --- --- --- --- NA NA NA NA NA C1orf125 126859 broad.mit.edu 37 1 179399628 179399629 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:179399628_179399629insT uc001gmo.2 + 14 1501_1502 c.1374_1375insT c.(1372-1377)AAATGGfs p.K458fs C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Frame_Shift_Ins_p.K246fs|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Frame_Shift_Ins_p.K458fs NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 458_459 Potential. 0 TGACACAAAAATGGAGAAACTT 0.322 NA 18 75 --- --- --- --- NA NA NA NA NA PTPRC 5788 broad.mit.edu 37 1 198725188 198725189 + Frame_Shift_Ins INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:198725188_198725189insC uc001gur.1 + 33 3973_3974 c.3793_3794insC c.(3793-3795)GCCfs p.A1265fs PTPRC_uc001gus.1_Frame_Shift_Ins_p.A1217fs|PTPRC_uc001gut.1_Frame_Shift_Ins_p.A1104fs NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1265 Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TCCACTTGGTGCCCCAGAAAAG 0.436 NA 31 152 --- --- --- --- NA NA NA NA NA LYST 1130 broad.mit.edu 37 1 235976278 235976279 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr1:235976278_235976279insT uc001hxj.2 - 4 450_451 c.275_276insA c.(274-276)AAGfs p.K92fs LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Frame_Shift_Ins_p.K92fs NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 92 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) TACCTGTTGCCTTTTCTTCTTG 0.376 NA Chediak-Higashsyndrome 7 59 --- --- --- --- NA NA NA NA NA CDC123 8872 broad.mit.edu 37 10 12291634 12291635 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:12291634_12291635insA uc001ill.2 + 12 1185_1186 c.901_902insA c.(901-903)TATfs p.Y301fs CDC123_uc001ilm.2_Frame_Shift_Ins_p.Y313fs NM_006023 NP_006014 O75794 CD123_HUMAN cell division cycle 123 301 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1) 1 GCCCAGCCCCTATTTGAGTTAC 0.436 NA 30 146 --- --- --- --- NA NA NA NA NA FAM188A 80013 broad.mit.edu 37 10 15828568 15828569 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:15828568_15828569insA uc001iod.1 - 13 1328_1329 c.1107_1108insT c.(1105-1110)TTTCCTfs p.F369fs FAM188A_uc001ioe.1_Frame_Shift_Ins_p.F196fs NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 369_370 apoptosis nucleus calcium ion binding ovary(1) 1 ACCTGATCAGGAAAAAATTCTT 0.332 Pancreas(159;946 1953 2111 4475 22008) NA 7 175 --- --- --- --- NA NA NA NA NA CUBN 8029 broad.mit.edu 37 10 17110651 17110652 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:17110651_17110652insA uc001ioo.2 - 20 2795_2796 c.2743_2744insT c.(2743-2745)TCTfs p.S915fs NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 915 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTTTCAGTAGAAGAACTTTTC 0.361 NA 22 212 --- --- --- --- NA NA NA NA NA C10orf140 387640 broad.mit.edu 37 10 21804201 21804202 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:21804201_21804202insA uc009xkd.2 - 4 4803_4804 c.2550_2551insT c.(2548-2553)TTTCCTfs p.F850fs uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 769_770 nucleus nucleotide binding ovary(1) 1 GGTGGACAAGGAAAATTTGCCA 0.436 NA 9 66 --- --- --- --- NA NA NA NA NA KIF20B 9585 broad.mit.edu 37 10 91476281 91476282 + Frame_Shift_Ins INS - - T rs146702249 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:91476281_91476282insT uc001kgs.1 + 9 1101_1102 c.1029_1030insT c.(1027-1032)AAATTGfs p.K343fs KIF20B_uc001kgr.1_Frame_Shift_Ins_p.K343fs NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 343_344 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 CCTTCACAAAATTGAATAATGC 0.312 NA 9 23 --- --- --- --- NA NA NA NA NA CUTC 51076 broad.mit.edu 37 10 101499503 101499504 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:101499503_101499504insG uc001kqd.3 + 3 318_319 c.170_171insG c.(169-171)GAGfs p.E57fs CUTC_uc010qpk.1_Frame_Shift_Ins_p.E57fs|CUTC_uc001kqe.3_RNA NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN cutC copper transporter homolog 57 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(1) 1 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) GGTTTATCAGAGGGGGGAACTA 0.401 NA 12 178 --- --- --- --- NA NA NA NA NA MKI67 4288 broad.mit.edu 37 10 129913973 129913974 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr10:129913973_129913974insT uc001lke.2 - 7 893_894 c.698_699insA c.(697-699)AATfs p.N233fs MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 233 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGGGAGATTCATTTTTTTTGCT 0.347 NA 10 57 --- --- --- --- NA NA NA NA NA C11orf35 256329 broad.mit.edu 37 11 556971 556972 + Frame_Shift_Ins INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:556971_556972insC uc001lpx.2 - 8 902_903 c.839_840insG c.(838-840)GGCfs p.G280fs uc001lpy.2_5'Flank|uc001lpz.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 280 pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGGAGTCAGCGCCCCCTGAGCT 0.678 NA 7 16 --- --- --- --- NA NA NA NA NA LRDD 55367 broad.mit.edu 37 11 799980 799981 + Frame_Shift_Ins INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:799980_799981insC uc001lro.1 - 15 2450_2451 c.2308_2309insG c.(2308-2310)GCTfs p.A770fs SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Frame_Shift_Ins_p.A753fs|LRDD_uc001lrl.1_Frame_Shift_Ins_p.A613fs|LRDD_uc001lrm.1_Frame_Shift_Ins_p.A457fs|LRDD_uc001lrn.1_Frame_Shift_Ins_p.A613fs|LRDD_uc001lrp.1_Frame_Shift_Ins_p.G453fs NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 770 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAGAGGCCAGCCCCCCGCCGT 0.624 NA 9 41 --- --- --- --- NA NA NA NA NA AMPD3 272 broad.mit.edu 37 11 10506451 10506452 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:10506451_10506452insG uc001mio.1 + 5 1009_1010 c.674_675insG c.(673-675)CAGfs p.Q225fs AMPD3_uc010rbz.1_Frame_Shift_Ins_p.Q66fs|AMPD3_uc001min.1_Frame_Shift_Ins_p.Q234fs|AMPD3_uc009yfw.1_Splice_Site|AMPD3_uc009yfx.1_Frame_Shift_Ins_p.Q225fs|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Frame_Shift_Ins_p.Q232fs|AMPD3_uc009yfy.2_Frame_Shift_Ins_p.Q225fs NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 225 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GTCCACATGCAGGGGGGCATCC 0.569 NA 16 90 --- --- --- --- NA NA NA NA NA MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 CTCCTA CTCCTA - - CTCCTA CTCCTA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:12316384_12316389delCTCCTA uc001mkg.1 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)CCTCCTACA>CCA p.PT470del NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 470_471 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.432 NA 5 8 --- --- --- --- NA NA NA NA NA PIK3C2A 5286 broad.mit.edu 37 11 17156656 17156657 + Splice_Site INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:17156656_17156657insC uc001mmq.3 - 9 1963 c.1897_splice c.e9+1 p.G633_splice PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Splice_Site_p.G253_splice|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Splice_Site_p.G633_splice NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) TTAAACACATACCCCTAGTTGA 0.347 NA 12 183 --- --- --- --- NA NA NA NA NA TTC17 55761 broad.mit.edu 37 11 43419030 43419031 + Frame_Shift_Ins INS - - AT TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:43419030_43419031insAT uc001mxi.2 + 7 921_922 c.907_908insAT c.(907-909)AATfs p.N303fs TTC17_uc001mxh.2_Frame_Shift_Ins_p.N303fs|TTC17_uc010rfj.1_Frame_Shift_Ins_p.N246fs|TTC17_uc001mxj.2_Frame_Shift_Ins_p.N73fs NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 303 TPR 1. binding ovary(5) 5 CACTTTGGGGAATATATATGCA 0.406 NA 52 261 --- --- --- --- NA NA NA NA NA PTPRJ 5795 broad.mit.edu 37 11 48134531 48134532 + Frame_Shift_Del DEL CA CA - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:48134531_48134532delCA uc001ngp.3 + 3 703_704 c.348_349delCA c.(346-351)AGCACTfs p.S116fs PTPRJ_uc001ngo.3_Frame_Shift_Del_p.S116fs NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 116_117 Extracellular (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 CTCCCAGTAGCACTGGTAAGCA 0.401 NA 7 86 --- --- --- --- NA NA NA NA NA OR4A16 81327 broad.mit.edu 37 11 55110739 55110740 + Frame_Shift_Ins INS - - A rs78513473 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:55110739_55110740insA uc010rie.1 + 1 63_64 c.63_64insA c.(61-66)GTGAAAfs p.V21fs NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 21_22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 ATCCTGATGTGAAAAAAACATT 0.416 NA 13 58 --- --- --- --- NA NA NA NA NA OR5AS1 219447 broad.mit.edu 37 11 55798786 55798786 + Frame_Shift_Del DEL A A - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:55798786delA uc010riw.1 + 1 892 c.892delA c.(892-894)AAAfs p.K298fs NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) CAAGGATGTGAAAAATGCTCT 0.313 NA 8 47 --- --- --- --- NA NA NA NA NA MPEG1 219972 broad.mit.edu 37 11 58979595 58979599 + Frame_Shift_Del DEL CACGG CACGG - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 CACGG CACGG - - CACGG CACGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:58979595_58979599delCACGG uc001nnu.3 - 1 896_900 c.740_744delCCGTG c.(739-744)ACCGTGfs p.T247fs NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 247_248 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) ATTTGAAGTTCACGGTGTTTTGAAA 0.532 NA 9 39 --- --- --- --- NA NA NA NA NA C2CD3 26005 broad.mit.edu 37 11 73829363 73829364 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:73829363_73829364insT uc001ouu.2 - 9 1656_1657 c.1429_1430insA c.(1429-1431)ATAfs p.I477fs C2CD3_uc001ouv.2_Frame_Shift_Ins_p.I477fs NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 477 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TGACTGGCTTATTTTTTTAGAA 0.431 NA 17 97 --- --- --- --- NA NA NA NA NA CHRDL2 25884 broad.mit.edu 37 11 74414386 74414387 + Frame_Shift_Ins INS - - G rs144140395 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:74414386_74414387insG uc001ovi.2 - 8 1162_1163 c.909_910insC c.(907-912)CCCGAGfs p.P303fs CHRDL2_uc001ovg.2_Frame_Shift_Ins_p.P187fs|CHRDL2_uc001ovh.2_Frame_Shift_Ins_p.P303fs|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Intron Q6WN34 CRDL2_HUMAN RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1; Short=BNF-1; Flags: Precursor; 303_304 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) GCCACTTTCTCGGGGTGACGGC 0.649 NA 15 62 --- --- --- --- NA NA NA NA NA CASP5 838 broad.mit.edu 37 11 104874010 104874011 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr11:104874010_104874011insT uc010rva.1 - 4 565_566 c.533_534insA c.(532-534)AATfs p.N178fs CASP5_uc010ruz.1_Frame_Shift_Ins_p.N191fs|CASP5_uc010rvb.1_Frame_Shift_Ins_p.N120fs|CASP5_uc010rvc.1_Frame_Shift_Ins_p.N36fs|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 178 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CCTCATCATGATTTTTTTTACA 0.361 NA 31 133 --- --- --- --- NA NA NA NA NA PRB1 5542 broad.mit.edu 37 12 11506711 11506712 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:11506711_11506712insG uc001qzw.1 - 3 362_363 c.325_326insC c.(325-327)CAAfs p.Q109fs PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 170 6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGGGGACCTTGGGGCTGGTTA 0.614 NA 64 478 --- --- --- --- NA NA NA NA NA SFRS2IP 9169 broad.mit.edu 37 12 46315840 46315841 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:46315840_46315841insT uc001rox.2 - 15 4669_4670 c.4382_4383insA c.(4381-4383)AACfs p.N1461fs SFRS2IP_uc001row.2_Frame_Shift_Ins_p.N1146fs NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1461 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) TTCAGCCTATGTTTTTTTCAGT 0.376 NA 47 262 --- --- --- --- NA NA NA NA NA LRP1 4035 broad.mit.edu 37 12 57598893 57598894 + Frame_Shift_Ins INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:57598893_57598894insC uc001snd.2 + 73 11662_11663 c.11196_11197insC c.(11194-11199)GAGCCCfs p.E3732fs NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3732_3733 Extracellular (Potential).|LDL-receptor class A 30. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.P3733S(1) ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCCTCAGAGCCCCCCACAGC 0.589 NA 14 59 --- --- --- --- NA NA NA NA NA C12orf66 144577 broad.mit.edu 37 12 64588065 64588066 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:64588065_64588066insA uc001srw.3 - 3 953_954 c.894_895insT c.(892-897)TTTGGAfs p.F298fs C12orf66_uc009zql.2_Frame_Shift_Ins_p.F245fs NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 298_299 ovary(1) 1 GAAATCTTTCCAAAAAAGTCTG 0.401 NA 24 130 --- --- --- --- NA NA NA NA NA UHRF1BP1L 23074 broad.mit.edu 37 12 100453146 100453147 + Frame_Shift_Ins INS - - A rs3748287 TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:100453146_100453147insA uc001tgq.2 - 14 2137_2138 c.1908_1909insT c.(1906-1911)TTTAGTfs p.F636fs UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.F286fs NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 636_637 ovary(2) 2 TATGTTTTACTAAAAAAATCAC 0.351 NA 19 73 --- --- --- --- NA NA NA NA NA UTP20 27340 broad.mit.edu 37 12 101779775 101779776 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:101779775_101779776insA uc001tia.1 + 62 8388_8389 c.8232_8233insA c.(8230-8235)AAGAAAfs p.K2744fs NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2744_2745 Nuclear localization signal.|Potential.|Nucleolar localization signal. KKK->AAA: Inhibits nucleolar but not nuclear localization.|K->A: Does not decrease nucleolar localization. endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TTGCTGCCAAGAAAAAAATGAA 0.307 NA 7 79 --- --- --- --- NA NA NA NA NA BRAP 8315 broad.mit.edu 37 12 112082051 112082052 + Frame_Shift_Ins INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:112082051_112082052insC uc001tsn.3 - 12 1924_1925 c.1730_1731insG c.(1729-1731)GGCfs p.G577fs BRAP_uc010syh.1_Frame_Shift_Ins_p.G398fs|BRAP_uc009zvv.2_Frame_Shift_Ins_p.G547fs NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 577 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 ACTTCCCACTGCCCCCCGAAGA 0.604 Pancreas(146;846 1904 7830 25130 26065) NA 15 74 --- --- --- --- NA NA NA NA NA KNTC1 9735 broad.mit.edu 37 12 123087619 123087620 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr12:123087619_123087620insA uc001ucv.2 + 48 5093_5094 c.4930_4931insA c.(4930-4932)GAAfs p.E1644fs KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1644 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ACACGTTTTCGAAAAAAAACTG 0.391 NA 7 42 --- --- --- --- NA NA NA NA NA TRIM9 114088 broad.mit.edu 37 14 51446192 51446192 + Frame_Shift_Del DEL A A - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:51446192delA uc001wyx.3 - 9 2748 c.1983delT c.(1981-1983)TTTfs p.F661fs TRIM9_uc001wyy.2_Frame_Shift_Del_p.F742fs NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 661 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) CATCGTTGATAAAAAATGTCA 0.473 NA 12 306 --- --- --- --- NA NA NA NA NA BTBD7 55727 broad.mit.edu 37 14 93761192 93761193 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr14:93761192_93761193insT uc001ybo.2 - 3 499_500 c.173_174insA c.(172-174)AAGfs p.K58fs BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Frame_Shift_Ins_p.K58fs NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 58 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CAGAGGTTCTCTTTTTTTTGTC 0.441 NA 28 132 --- --- --- --- NA NA NA NA NA OR4N4 283694 broad.mit.edu 37 15 22332412 22332413 + Translation_Start_Site INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr15:22332412_22332413insA uc001yuc.1 + 3 219_220 c.-762_-761insA c.(-764--759)ATGAAA>ATGAAAA LOC727924_uc001ytz.1_Intron|LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTGGCTTGATGAAAAAAAACAA 0.287 NA 7 76 --- --- --- --- NA NA NA NA NA ITGAD 3681 broad.mit.edu 37 16 31409145 31409146 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:31409145_31409146insG uc002ebv.1 + 5 391_392 c.342_343insG c.(340-345)TGTGGGfs p.C114fs ITGAD_uc010vfl.1_Frame_Shift_Ins_p.C114fs|ITGAD_uc010cap.1_Frame_Shift_Ins_p.C114fs|ITGAD_uc002ebw.1_5'UTR NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 114_115 FG-GAP 2.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 ACAGAGTCTGTGGGGAGAACTC 0.55 NA 7 35 --- --- --- --- NA NA NA NA NA CDH1 999 broad.mit.edu 37 16 68846036 68846037 + Splice_Site DEL AG AG - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr16:68846036_68846037delAG uc002ewg.1 + 8 1133 c.1009_splice c.e8-1 p.S337_splice CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.S337_splice NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(8) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) ATCTCTCTGCAGAGTTTCCCTA 0.51 NA Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 8 82 --- --- --- --- NA NA NA NA NA ERBB2 2064 broad.mit.edu 37 17 37884217 37884218 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:37884217_37884218insG uc002hso.2 + 27 3926_3927 c.3688_3689insG c.(3688-3690)CGGfs p.R1230fs ERBB2_uc002hsm.2_Frame_Shift_Ins_p.R1200fs|ERBB2_uc010cwa.2_Frame_Shift_Ins_p.R1215fs|ERBB2_uc002hsp.2_Frame_Shift_Ins_p.R1033fs|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Frame_Shift_Ins_p.R954fs NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 1230 Cytoplasmic (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CCCACCAGAGCGGGGGGCTCCA 0.634 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 19 96 --- --- --- --- NA NA NA NA NA VEZF1 7716 broad.mit.edu 37 17 56056586 56056587 + In_Frame_Ins INS - - TGT TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:56056586_56056587insTGT uc002ivf.1 - 5 1207_1208 c.1064_1065insACA c.(1063-1065)CAT>CAACAT p.354_355insQ VEZF1_uc010dcn.1_In_Frame_Ins_p.204_205insQ NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 354_355 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 AGCTTGTCACAtgttgttgttg 0.317 NA 26 255 --- --- --- --- NA NA NA NA NA BPTF 2186 broad.mit.edu 37 17 65871138 65871139 + Splice_Site INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:65871138_65871139insA uc002jgf.2 + 4 1925 c.1864_splice c.e4+2 p.V622_splice BPTF_uc002jge.2_Splice_Site_p.E622_splice|BPTF_uc010wqm.1_Splice_Site_p.E622_splice NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AATCTGAGGGTAAAAAAATTAC 0.337 NA 9 49 --- --- --- --- NA NA NA NA NA SRP68 6730 broad.mit.edu 37 17 74068450 74068451 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:74068450_74068451insT uc002jqk.1 - 1 157_158 c.122_123insA c.(121-123)AACfs p.N41fs SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Frame_Shift_Ins_p.N41fs|GALR2_uc002jqm.1_5'Flank NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 41 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 AAGGGCGTTCGTTTTCTTTATT 0.337 NA 71 246 --- --- --- --- NA NA NA NA NA RPTOR 57521 broad.mit.edu 37 17 78923270 78923271 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr17:78923270_78923271insT uc002jyt.1 + 28 4098_4099 c.3293_3294insT c.(3292-3294)AATfs p.N1098fs RPTOR_uc010wug.1_Frame_Shift_Ins_p.N940fs|RPTOR_uc002jyu.1_5'UTR NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 1098 WD 2. cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 GTCTGGAAGAATTTTGCTGATT 0.614 NA 44 276 --- --- --- --- NA NA NA NA NA ZNF93 81931 broad.mit.edu 37 19 20044269 20044270 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:20044269_20044270insA uc002non.2 + 4 616_617 c.505_506insA c.(505-507)GAAfs p.E169fs NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 169 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 AAGACATACTGAAAAAAAACCT 0.307 NA 8 45 --- --- --- --- NA NA NA NA NA BCAM 4059 broad.mit.edu 37 19 45322439 45322440 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr19:45322439_45322440insG uc002ozu.2 + 11 1507_1508 c.1463_1464insG c.(1462-1464)TTGfs p.L488fs BCAM_uc002ozt.1_Frame_Shift_Ins_p.L488fs NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 488 Extracellular (Potential).|Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGGAGCCAATTGGGGGGCAGCG 0.594 NA 9 112 --- --- --- --- NA NA NA NA NA WBP1 23559 broad.mit.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:74687542_74687543insC uc002slj.1 + 4 697_698 c.544_545insC c.(544-546)GCCfs p.A182fs WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Frame_Shift_Ins_p.A179fs|WBP1_uc002sll.1_RNA NM_012477 NP_036609 Q96G27 WBP1_HUMAN WW domain binding protein 1 182 WW domain binding 0 CCACCAGAGTGCCCCCCCTCAT 0.604 NA 39 192 --- --- --- --- NA NA NA NA NA RNF103 7844 broad.mit.edu 37 2 86831014 86831015 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:86831014_86831015insT uc002srn.2 - 4 2978_2979 c.2009_2010insA c.(2008-2010)AAGfs p.K670fs VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Frame_Shift_Ins_p.K531fs|uc002sro.2_5'Flank NM_005667 NP_005658 O00237 RN103_HUMAN ring finger protein 103 670 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1) 1 CATATGGCTGCTTTTTTTTATA 0.441 NA 20 128 --- --- --- --- NA NA NA NA NA RBM43 375287 broad.mit.edu 37 2 152112047 152112048 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:152112047_152112048insT uc002txh.2 - 2 361_362 c.213_214insA c.(211-216)AAAGTTfs p.K71fs NM_198557 NP_940959 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 71_72 RRM. nucleotide binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) TTGGAAATACCTTTTTTTTCTT 0.282 NA 17 95 --- --- --- --- NA NA NA NA NA NEB 4703 broad.mit.edu 37 2 152534572 152534573 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:152534572_152534573insT uc010fnx.2 - 33 3575_3576 c.3384_3385insA c.(3382-3387)AAAGACfs p.K1128fs NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1128_1129 Nebulin 27. 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) TTCTCATAGTCTTTTTTATACT 0.416 NA 8 48 --- --- --- --- NA NA NA NA NA ABCB11 8647 broad.mit.edu 37 2 169801236 169801237 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:169801236_169801237insT uc002ueo.1 - 21 2614_2615 c.2488_2489insA c.(2488-2490)AGGfs p.R830fs ABCB11_uc010zda.1_Frame_Shift_Ins_p.R272fs|ABCB11_uc010zdb.1_Frame_Shift_Ins_p.R306fs NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 830 Cytoplasmic (Potential).|ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTTACGTAGCCTTTTTGTTAGG 0.396 NA 21 112 --- --- --- --- NA NA NA NA NA SSB 6741 broad.mit.edu 37 2 170665007 170665008 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:170665007_170665008insA uc002ufk.2 + 7 677_678 c.570_571insA c.(568-573)GCCAAAfs p.A190fs SSB_uc002ufl.2_Frame_Shift_Ins_p.A190fs|SSB_uc002ufm.2_Frame_Shift_Ins_p.A190fs NM_003142 NP_003133 P05455 LA_HUMAN autoantigen La 190_191 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding skin(3)|pancreas(1) 4 ATTACTTTGCCAAAAAAAATGA 0.322 NA 12 67 --- --- --- --- NA NA NA NA NA MYO3B 140469 broad.mit.edu 37 2 171073882 171073883 + Frame_Shift_Ins INS - - C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:171073882_171073883insC uc002ufy.2 + 6 723_724 c.580_581insC c.(580-582)ACCfs p.T194fs MYO3B_uc002ufv.2_Frame_Shift_Ins_p.T181fs|MYO3B_uc010fqb.1_Frame_Shift_Ins_p.T181fs|MYO3B_uc002ufz.2_Frame_Shift_Ins_p.T194fs|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Frame_Shift_Ins_p.T181fs NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 194 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 ATCTGTTGGCACCCCGTTCTGG 0.436 NA 8 271 --- --- --- --- NA NA NA NA NA OLA1 29789 broad.mit.edu 37 2 175111470 175111471 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:175111470_175111471insT uc002uih.2 - 2 259_260 c.73_74insA c.(73-75)ATTfs p.I25fs OLA1_uc002uii.2_Intron|OLA1_uc010fqq.2_Frame_Shift_Ins_p.I25fs|OLA1_uc002uij.2_Intron|OLA1_uc002uik.2_5'UTR|OLA1_uc010fqr.2_Frame_Shift_Ins_p.I25fs NM_013341 NP_037473 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 isoform 1 25 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding ovary(1)|breast(1) 2 AACAATACCAATTTTCAGTGAG 0.396 NA 10 103 --- --- --- --- NA NA NA NA NA PSMD1 5707 broad.mit.edu 37 2 231931679 231931680 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr2:231931679_231931680insA uc002vrn.1 + 5 495_496 c.364_365insA c.(364-366)GAAfs p.E122fs PSMD1_uc002vrm.1_Frame_Shift_Ins_p.E122fs|PSMD1_uc010fxu.1_5'UTR NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 122 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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GCCTGAAGGAGAAAAAAAACCA 0.366 NA 9 32 --- --- --- --- NA NA NA NA NA RBM39 9584 broad.mit.edu 37 20 34295125 34295126 + Splice_Site INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:34295125_34295126insA uc002xeb.2 - 14 1570 c.1226_splice c.e14-1 p.A409_splice RBM39_uc002xdz.2_Splice_Site_p.A385_splice|RBM39_uc002xea.2_Splice_Site_p.A252_splice|RBM39_uc010gfn.2_Splice_Site_p.A252_splice|RBM39_uc010zvm.1_Splice_Site_p.A381_splice|RBM39_uc002xeg.2_Splice_Site_p.A387_splice|RBM39_uc002xec.2_Splice_Site_p.A403_splice|RBM39_uc002xed.2_Splice_Site_p.A127_splice|RBM39_uc002xee.2_Splice_Site_p.A252_splice|RBM39_uc002xef.2_Splice_Site_p.A246_splice|RBM39_uc010zvn.1_Splice_Site_p.A252_splice NM_184234 NP_909122 Q14498 RBM39_HUMAN RNA binding motif protein 39 isoform a mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) AAGCTGAAGCTAAAAAAAGAAA 0.366 NA 8 39 --- --- --- --- NA NA NA NA NA PPP1R16B 26051 broad.mit.edu 37 20 37534665 37534665 + Frame_Shift_Del DEL C C - rs4812332 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:37534665delC uc002xje.2 + 7 939 c.750delC c.(748-750)GACfs p.D250fs PPP1R16B_uc010ggc.2_Intron NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 250 ANK 3. regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TCCTCCTGGACCATGGAGTGC 0.612 NA 24 83 --- --- --- --- NA NA NA NA NA HNF4A 3172 broad.mit.edu 37 20 43058204 43058204 + Frame_Shift_Del DEL G G - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:43058204delG uc002xma.2 + 10 1413 c.1324delG c.(1324-1326)GGGfs p.G442fs HNF4A_uc002xlu.2_Frame_Shift_Del_p.G410fs|HNF4A_uc002xlv.2_Frame_Shift_Del_p.G420fs|HNF4A_uc002xlz.2_Frame_Shift_Del_p.G432fs|HNF4A_uc010ggq.2_Frame_Shift_Del_p.G435fs NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 442 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AGGTGGCTCAGGGTCTGAGCC 0.592 Colon(79;2 1269 8820 14841 52347) NA 30 255 --- --- --- --- NA NA NA NA NA ARFGEF2 10564 broad.mit.edu 37 20 47587876 47587877 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr20:47587876_47587877insA uc002xtx.3 + 10 1562_1563 c.1410_1411insA c.(1408-1413)TTGAAAfs p.L470fs NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 470_471 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) AAATGCACTTGAAAATGCAGAT 0.337 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 10 58 --- --- --- --- NA NA NA NA NA MED15 51586 broad.mit.edu 37 22 20940865 20940866 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr22:20940865_20940866insT uc002zsp.2 + 18 2321_2322 c.2241_2242insT c.(2239-2244)CCCTTCfs p.P747fs MED15_uc002zsq.2_Frame_Shift_Ins_p.P707fs|MED15_uc010gso.2_Frame_Shift_Ins_p.P690fs|MED15_uc002zsr.2_Frame_Shift_Ins_p.P681fs|MED15_uc011ahs.1_Frame_Shift_Ins_p.P681fs|MED15_uc002zss.2_Frame_Shift_Ins_p.P626fs|MED15_uc011ahu.1_Frame_Shift_Ins_p.P457fs|MED15_uc002zst.2_Frame_Shift_Ins_p.P363fs|MED15_uc002zsu.2_Frame_Shift_Ins_p.P352fs NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 747_748 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.P747S(1) skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ACGCCAACCCCTTCCTCCAGTC 0.678 NA 12 99 --- --- --- --- NA NA NA NA NA PDGFRA 5156 broad.mit.edu 37 4 55151646 55151647 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:55151646_55151647insA uc003han.3 + 17 2763_2764 c.2432_2433insA c.(2431-2433)TCAfs p.S811fs PDGFRA_uc003haa.2_Frame_Shift_Ins_p.S571fs NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 811 Protein kinase.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TTTTTGGCTTCAAAAAATGTAA 0.416 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 9 77 --- --- --- --- NA NA NA NA NA ARHGAP24 83478 broad.mit.edu 37 4 86916559 86916560 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr4:86916559_86916560insG uc003hpk.2 + 9 2201_2202 c.1752_1753insG c.(1750-1755)TTTGGGfs p.F584fs ARHGAP24_uc003hpl.2_Frame_Shift_Ins_p.F489fs|ARHGAP24_uc010ikf.2_Frame_Shift_Ins_p.F499fs|ARHGAP24_uc003hpm.2_Frame_Shift_Ins_p.F491fs NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 584_585 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAGACTTTTTTGGGGGGAACTT 0.559 NA 27 73 --- --- --- --- NA NA NA NA NA NSUN2 54888 broad.mit.edu 37 5 6607459 6607460 + Frame_Shift_Del DEL CT CT - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:6607459_6607460delCT uc003jdu.2 - 13 1426_1427 c.1361_1362delAG c.(1360-1362)CAGfs p.Q454fs NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Frame_Shift_Del_p.Q218fs|NSUN2_uc011cmk.1_Frame_Shift_Del_p.Q419fs|NSUN2_uc003jdv.2_Frame_Shift_Del_p.Q218fs NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 454 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 CAGGGCTCAGCTGTGTGCTTTC 0.46 NA 21 108 --- --- --- --- NA NA NA NA NA C5orf42 65250 broad.mit.edu 37 5 37183684 37183685 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:37183684_37183685insT uc011cpa.1 - 26 4829_4830 c.4598_4599insA c.(4597-4599)AATfs p.N1533fs C5orf42_uc011coy.1_Frame_Shift_Ins_p.N34fs|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Frame_Shift_Ins_p.N608fs|C5orf42_uc011cpb.1_Frame_Shift_Ins_p.N414fs NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1533 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CAGGAAGTGTATTTTGTGATAA 0.302 NA 13 46 --- --- --- --- NA NA NA NA NA RICTOR 253260 broad.mit.edu 37 5 38945792 38945793 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:38945792_38945793insT uc003jlp.2 - 34 4457_4458 c.4433_4434insA c.(4432-4434)AATfs p.N1478fs RICTOR_uc003jlo.2_Frame_Shift_Ins_p.N1502fs|RICTOR_uc010ivf.2_Intron NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1478 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) AGTGAAAAGAATTTTTTACAAG 0.342 NA 7 50 --- --- --- --- NA NA NA NA NA DEPDC1B 55789 broad.mit.edu 37 5 59982868 59982869 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:59982868_59982869insT uc003jsh.2 - 2 307_308 c.234_235insA c.(232-237)AAATTCfs p.K78fs DEPDC1B_uc011cqm.1_Frame_Shift_Ins_p.K78fs|DEPDC1B_uc011cqn.1_Frame_Shift_Ins_p.K51fs NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 78_79 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) TTCTTCAGGAATTTTTTTAGCA 0.465 NA 46 166 --- --- --- --- NA NA NA NA NA LMNB1 4001 broad.mit.edu 37 5 126154676 126154677 + Frame_Shift_Del DEL CT CT - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:126154676_126154677delCT uc003kud.1 + 6 1370_1371 c.1002_1003delCT c.(1000-1005)AACTCTfs p.N334fs LMNB1_uc003kuc.2_Frame_Shift_Del_p.N334fs|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Frame_Shift_Del_p.N124fs NM_005573 NP_005564 P20700 LMNB1_HUMAN lamin B1 334_335 Rod.|Coil 2. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity kidney(1)|central_nervous_system(1) 2 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) AAAAAGACAACTCTCGTCGCAT 0.391 NA 25 83 --- --- --- --- NA NA NA NA NA PCDHB6 56130 broad.mit.edu 37 5 140531175 140531175 + Frame_Shift_Del DEL T T - rs246707 byFrequency TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:140531175delT uc003lir.2 + 1 1337 c.1337delT c.(1336-1338)GTCfs p.V446fs PCDHB6_uc011dah.1_Frame_Shift_Del_p.V310fs NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 446 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGACAACGTCCCCGCCTTC 0.582 NA 47 156 --- --- --- --- NA NA NA NA NA C1QTNF2 114898 broad.mit.edu 37 5 159797634 159797635 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr5:159797634_159797635insG uc003lyd.2 - 1 14_15 c.10_11insC c.(10-12)CTAfs p.L4fs NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 Error:Variant_position_missing_in_Q9BXJ5_after_alignment collagen skin(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCAGGCATAGTTTTCCCATC 0.649 NA 11 44 --- --- --- --- NA NA NA NA NA JARID2 3720 broad.mit.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:15496722delG uc003nbj.2 + 7 1510 c.1266delG c.(1264-1266)GTGfs p.V422fs JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.1_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 422 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CTAAGGAGGTGGGGGGGCGGC 0.667 NA 9 142 --- --- --- --- NA NA NA NA NA KIAA0319 9856 broad.mit.edu 37 6 24601319 24601320 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr6:24601319_24601320insG uc011djo.1 - 2 249_250 c.12_13insC c.(10-15)CCCACAfs p.P4fs KIAA0319_uc011djp.1_Intron|KIAA0319_uc003neh.1_Frame_Shift_Ins_p.P4fs|KIAA0319_uc011djq.1_5'UTR|KIAA0319_uc011djr.1_Frame_Shift_Ins_p.P4fs NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 4_5 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 AGCACACCTGTGGGGGGCGCCA 0.525 NA 22 217 --- --- --- --- NA NA NA NA NA NSMCE2 286053 broad.mit.edu 37 8 126194363 126194364 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr8:126194363_126194364insA uc003yrw.2 + 5 511_512 c.283_284insA c.(283-285)GAAfs p.E95fs NSMCE2_uc003yrv.2_Frame_Shift_Ins_p.E95fs NM_173685 NP_775956 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog 95 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1) 1 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) AGAACGTCCAGAAAAAATACCA 0.287 NA 18 186 --- --- --- --- NA NA NA NA NA FREM1 158326 broad.mit.edu 37 9 14857620 14857621 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:14857620_14857621insG uc003zlm.2 - 5 1348_1349 c.758_759insC c.(757-759)CCTfs p.P253fs FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 253 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TGTTGGGTGAAGGGGGATCCAG 0.495 NA 9 112 --- --- --- --- NA NA NA NA NA PLIN2 123 broad.mit.edu 37 9 19119812 19119813 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chr9:19119812_19119813insT uc003zno.2 - 6 791_792 c.612_613insA c.(610-615)AAAGTTfs p.K204fs PLIN2_uc011lna.1_Frame_Shift_Ins_p.K176fs|PLIN2_uc011lnb.1_Frame_Shift_Ins_p.K161fs NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 204_205 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle ovary(2) 2 AATCCTTCAACTTTTTTTGCTT 0.431 NA 8 102 --- --- --- --- NA NA NA NA NA CCNB3 85417 broad.mit.edu 37 X 50051702 50051703 + Frame_Shift_Ins INS - - A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:50051702_50051703insA uc004dox.3 + 6 831_832 c.533_534insA c.(532-534)TTAfs p.L178fs CCNB3_uc004doy.2_Frame_Shift_Ins_p.L178fs|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 178 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TCATTATCTTTAAAAAAGTGCT 0.426 NA 20 34 --- --- --- --- NA NA NA NA NA PLXNB3 5365 broad.mit.edu 37 X 153042690 153042691 + Frame_Shift_Ins INS - - G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 118e528b-c07f-4c32-a2dd-3f098916f81d 97f1e89e-69ae-476b-9dba-d46e08f126d1 g.chrX:153042690_153042691insG uc004fii.2 + 30 5129_5130 c.4955_4956insG c.(4954-4956)GAGfs p.E1652fs PLXNB3_uc010nuk.2_Frame_Shift_Ins_p.E1675fs|PLXNB3_uc011mzd.1_Frame_Shift_Ins_p.E1291fs|SRPK3_uc004fik.2_5'UTR NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1652 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GATGGCGAGGAGGGGGGGGTGT 0.693 NA 4 3 --- --- --- --- NA NA NA NA NA