Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SSU72 29101 broad.mit.edu 37 1 1500188 1500188 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:1500188C>T uc001agd.2 - 2 514 c.189G>A c.(187-189)CAG>CAA p.Q63Q SSU72_uc009vkg.1_Silent_p.Q63Q|SSU72_uc001age.1_Silent_p.Q63Q NM_014188 NP_054907 Q9NP77 SSU72_HUMAN Ssu72 RNA polymerase II CTD phosphatase homolog 63 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity 0 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CATTGTACATCTGGTCATATG 0.493 NA 10 105 0 0 0.006214 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528512 6528512 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:6528512G>A uc001ano.1 - 21 2653 c.2552C>T c.(2551-2553)TCT>TTT p.S851F PLEKHG5_uc001ann.1_Missense_Mutation_p.S832F|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Missense_Mutation_p.S872F|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.S356F|PLEKHG5_uc009vma.1_Missense_Mutation_p.S635F|PLEKHG5_uc010nzr.1_Missense_Mutation_p.S864F|PLEKHG5_uc001ank.1_Missense_Mutation_p.S795F|PLEKHG5_uc009vmb.1_Missense_Mutation_p.S795F|PLEKHG5_uc001anl.1_Missense_Mutation_p.S795F|PLEKHG5_uc001anm.1_Missense_Mutation_p.S795F|PLEKHG5_uc001anr.1_Missense_Mutation_p.S58F NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 851 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGGCGTGGCAGATGAGGCAGT 0.637 NA 5 22 0 0 0.001168 0 0 EPHA8 2046 broad.mit.edu 37 1 22915468 22915468 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:22915468T>C uc001bfx.1 + 5 1209 c.1084T>C c.(1084-1086)TAC>CAC p.Y362H EPHA8_uc001bfw.2_Missense_Mutation_p.Y362H NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 362 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGACATCACCTACAATGCCGT 0.657 NA 4 27 0 0 0.000602 0 0 MYOM3 127294 broad.mit.edu 37 1 24406539 24406539 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:24406539G>A uc001bin.3 - 20 2716 c.2553C>T c.(2551-2553)GTC>GTT p.V851V MYOM3_uc001bim.3_Silent_p.V508V|MYOM3_uc001bio.2_Silent_p.V851V NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 851 Fibronectin type-III 5. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCCTGGGGTGACCGGCTTCC 0.552 NA 6 65 0 0 0.001168 0 0 IFI6 2537 broad.mit.edu 37 1 27992960 27992960 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:27992960C>G uc001boo.1 - 5 448 c.325G>C c.(325-327)GGT>CGT p.G109R IFI6_uc001bon.1_Missense_Mutation_p.G117R|IFI6_uc001bop.1_Missense_Mutation_p.G113R NM_002038 NP_002029 P09912 IFI6_HUMAN interferon, alpha-inducible protein 6 isoform a 109 anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway integral to membrane|mitochondrion protein binding ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCAATATTACCTATGACGACG 0.537 NA 6 44 0 0 0.00308 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047735 42047735 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:42047735C>G uc001cgz.3 - 4 3947 c.2734G>C c.(2734-2736)GAG>CAG p.E912Q HIVEP3_uc001cha.3_Missense_Mutation_p.E912Q|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 912 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGGGCCATCTCTGCCAGGCGC 0.592 NA 8 127 0 0 0.00308 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047774 42047774 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:42047774C>G uc001cgz.3 - 4 3908 c.2695G>C c.(2695-2697)GAG>CAG p.E899Q HIVEP3_uc001cha.3_Missense_Mutation_p.E899Q|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 899 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGCAGCTTCTCAGCTGGGAGC 0.622 NA 8 86 0 0 0.004482 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403713 47403713 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:47403713G>T uc001cqp.3 - 2 343 c.292C>A c.(292-294)CAG>AAG p.Q98K CYP4A11_uc001cqq.2_Missense_Mutation_p.Q98K|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 98 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) TCATAGAGCTGGACACGAACT 0.517 NA 10 86 2.17888e-05 2.592e-05 0.006214 1 0 TM2D1 83941 broad.mit.edu 37 1 62190779 62190779 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:62190779C>G uc001czz.1 - 1 317 c.14G>C c.(13-15)TGG>TCG p.W5S NM_032027 NP_114416 Q9BX74 TM2D1_HUMAN beta-amyloid binding protein precursor 5 apoptosis ovary(1) 1 ACCAGACGGCCAGGCGGCCGC 0.652 NA 7 81 0 0 0.004482 0 0 JAK1 3716 broad.mit.edu 37 1 65332689 65332689 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:65332689C>T uc001dbu.1 - 7 1099 c.850G>A c.(850-852)GAA>AAA p.E284K JAK1_uc009wam.1_Missense_Mutation_p.E272K NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 284 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAAATATTTCAGCACCGTAA 0.398 NA Mis ALL 9 100 0 0 0.004482 0 0 LRRC8C 84230 broad.mit.edu 37 1 90180404 90180404 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:90180404G>A uc001dnl.3 + 3 2517 c.2275G>A c.(2275-2277)GTA>ATA p.V759I NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 759 LRR 16. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CTACTTAGATGTAAAAGGTAA 0.393 NA 5 55 0 0 0.000602 0 0 CHD1L 9557 broad.mit.edu 37 1 146756095 146756095 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:146756095G>C uc001epm.3 + 16 1840 c.1777G>C c.(1777-1779)GAA>CAA p.E593Q uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.E480Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.E499Q|CHD1L_uc010ozp.1_Missense_Mutation_p.E312Q|CHD1L_uc001epo.3_Missense_Mutation_p.E389Q|CHD1L_uc010ozq.1_Missense_Mutation_p.E166Q|CHD1L_uc009wji.2_Missense_Mutation_p.E312Q NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 593 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) AAAATCATTTGAACAACTGGT 0.333 NA 8 88 0 0 0.006214 0 0 Unknown 0 broad.mit.edu 37 1 148891528 148891528 + Splice_Site SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:148891528G>T uc009wkv.1 + 9 c.831_splice c.e9-1 Homo sapiens cDNA, FLJ17483. NA TGTAATTTTAGACCCACCCAA 0.373 NA 4 32 0.00909568 0.00980116 0.009096 1 0 TARS2 80222 broad.mit.edu 37 1 150477190 150477190 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:150477190G>A uc001euq.2 + 15 1808 c.1801G>A c.(1801-1803)GAA>AAA p.E601K TARS2_uc001eur.2_Missense_Mutation_p.E519K|TARS2_uc009wlt.2_Missense_Mutation_p.E227K|TARS2_uc009wls.2_Missense_Mutation_p.E471K NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 601 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) AGTGCTGGCAGAAAGCTGCGG 0.567 NA 8 153 0 0 0.00308 0 0 SEMA6C 10500 broad.mit.edu 37 1 151105617 151105617 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:151105617G>A uc001ewu.2 - 19 2436 c.2136C>T c.(2134-2136)CTC>CTT p.L712L SEMA6C_uc001ewv.2_Silent_p.L744L|SEMA6C_uc001eww.2_Silent_p.L704L|SEMA6C_uc010pcq.1_Missense_Mutation_p.S646F NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 712 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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) CGGCGGCGCGGAGGTGCTTGA 0.617 NA 7 21 0 0 0.00308 0 0 FLG 2312 broad.mit.edu 37 1 152284856 152284856 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:152284856C>T uc001ezu.1 - 3 2542 c.2506G>A c.(2506-2508)GAT>AAT p.D836N uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 836 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGACCATCTTGGGATGCT 0.587 NA Ichthyosis 34 555 0 0 0.004878 0 0 INTS3 65123 broad.mit.edu 37 1 153740270 153740270 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:153740270C>T uc009wom.2 + 22 2432 c.2211C>T c.(2209-2211)CTC>CTT p.L737L INTS3_uc001fct.2_Silent_p.L737L|INTS3_uc001fcu.2_Silent_p.L429L|INTS3_uc001fcv.2_Silent_p.L531L|INTS3_uc010peb.1_Silent_p.L531L|INTS3_uc001fcw.2_Silent_p.L250L|INTS3_uc010pec.1_Silent_p.L250L|INTS3_uc001fcy.2_Silent_p.L34L|INTS3_uc001fcx.2_Silent_p.L34L NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 738 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 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) ATGTGCGGCTCCTGTGCCACC 0.592 NA 7 74 0 0 0.00308 0 0 PKLR 5313 broad.mit.edu 37 1 155264172 155264172 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:155264172C>G uc001fkb.3 - 7 1009 c.970G>C c.(970-972)GAT>CAT p.D324H RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.D293H NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 324 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) AGGATTTCATCAAACCTGAGA 0.562 NA 5 48 0 0 0.000602 0 0 RUSC1 23623 broad.mit.edu 37 1 155292113 155292113 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:155292113C>A uc001fkj.2 + 2 778 c.549C>A c.(547-549)AAC>AAA p.N183K RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.N183K|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 183 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CGAACTGCAACGCCCTGACCA 0.627 NA 6 104 0.00307968 0.0034034 0.00308 1 0 NES 10763 broad.mit.edu 37 1 156640010 156640010 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:156640010G>A uc001fpq.2 - 4 4103 c.3970C>T c.(3970-3972)CAA>TAA p.Q1324* NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1324 Tail. DPTGEQRPPPQG -> TPLESRGHPLK (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCTCCCCTTGAGGGGGTGGC 0.577 NA 8 136 0 0 0.00308 0 0 INSRR 3645 broad.mit.edu 37 1 156823675 156823675 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:156823675C>G uc010pht.1 - 2 760 c.506G>C c.(505-507)GGC>GCC p.G169A NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.G169A NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 169 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) CAGCTTGTTGCCCACGATGTG 0.637 NA 11 29 0 0 0.010729 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576991 158576991 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:158576991G>C uc010pio.1 + 1 763 c.763G>C c.(763-765)GCT>CCT p.A255P NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TTATGGCTGTGCTTCCTTCGT 0.512 NA 52 223 0 0 0.00361 0 0 UAP1 6675 broad.mit.edu 37 1 162557435 162557435 + Silent SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:162557435A>T uc001gce.3 + 6 1334 c.1005A>T c.(1003-1005)GTA>GTT p.V335V NM_003115 NP_003106 Q16222 UAP1_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 335 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity ovary(2)|skin(2)|kidney(1) 5 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TCTTCACTGTACCATTTCTGA 0.418 NA 15 148 0 0 0.004007 0 0 SLC19A2 10560 broad.mit.edu 37 1 169439421 169439421 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:169439421G>A uc001gge.3 - 3 1015 c.811C>T c.(811-813)CCC>TCC p.P271S SLC19A2_uc001ggf.3_Missense_Mutation_p.P70S NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 271 Cytoplasmic (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) TCTGGCTTGGGTTCCTACATA 0.443 NA 4 61 0 0 0.009096 0 0 RASAL2 9462 broad.mit.edu 37 1 178421649 178421649 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:178421649C>G uc001glr.2 + 9 1552 c.1427C>G c.(1426-1428)TCA>TGA p.S476* RASAL2_uc001glq.2_Nonsense_Mutation_p.S624*|RASAL2_uc009wxc.2_5'UTR NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 476 Ras-GAP. 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 ATCAGTGCCTCATTATTTCTC 0.478 NA 10 200 0 0 0.006214 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200776585 200776585 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:200776585G>T uc001gvl.2 + 3 751 c.481G>T c.(481-483)GCT>TCT p.A161S CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.A161S|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.A161S NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 161 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 AATTGCGTGTGCTCAGCAGTA 0.383 NA 7 43 8.12818e-05 9.4384e-05 0.001984 1 0 CHIT1 1118 broad.mit.edu 37 1 203186907 203186907 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:203186907C>T uc001gzn.2 - 10 1212 c.1116G>A c.(1114-1116)CAG>CAA p.Q372Q FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Splice_Site_p.G135_splice|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.Q363Q NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 372 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 GGTATCGGCCCTGGTTGCAGG 0.597 NA 4 61 0 0 0.000602 0 0 ARF1 375 broad.mit.edu 37 1 228285621 228285621 + Silent SNP G G A rs146827674 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:228285621G>A uc001hrr.2 + 5 681 c.453G>A c.(451-453)AGG>AGA p.R151R ARF1_uc001hrs.2_Silent_p.R151R|ARF1_uc001hrt.2_Missense_Mutation_p.E73K|ARF1_uc009xev.2_RNA|ARF1_uc001hru.2_Silent_p.R151R|ARF1_uc001hrv.2_Silent_p.R151R|ARF1_uc001hrw.2_Silent_p.R151R NM_001024226 NP_001019397 P84077 ARF1_HUMAN ADP-ribosylation factor 1 151 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity 0 Prostate(94;0.0405) TACGCCACAGGAACTGGTACA 0.617 NA 4 60 0 0 0.009096 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232600659 232600659 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:232600659C>G uc001hvg.2 - 7 2905 c.2747G>C c.(2746-2748)AGA>ACA p.R916T SIPA1L2_uc001hvf.2_5'Flank NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 916 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACATTCTCCTCTTTCGTAAAA 0.413 NA 4 53 0 0 0.000602 0 0 PCNXL2 80003 broad.mit.edu 37 1 233161085 233161085 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:233161085C>A uc001hvl.2 - 26 4647 c.4412G>T c.(4411-4413)GGC>GTC p.G1471V PCNXL2_uc001hvk.1_Missense_Mutation_p.G123V|PCNXL2_uc001hvm.1_Intron NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1471 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GCAGCAGCAGCCTCTGTCCTC 0.587 NA OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 81 0.000442599 0.000499047 0.006214 1 0 NID1 4811 broad.mit.edu 37 1 236205225 236205225 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:236205225C>G uc001hxo.2 - 4 1222 c.1120G>C c.(1120-1122)GAG>CAG p.E374Q NID1_uc009xgd.2_Missense_Mutation_p.E374Q NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 374 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCTGTTTCCTCAACTTCATCC 0.512 NA 11 67 0 0 0.010729 0 0 OR2L13 284521 broad.mit.edu 37 1 248263108 248263108 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248263108T>C uc001ids.2 + 3 768 c.431T>C c.(430-432)ATT>ACT p.I144T NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GTGAAGATGATTGGAGGCTCT 0.488 NA 26 206 0 0 0.003954 0 0 OR14C36 127066 broad.mit.edu 37 1 248512634 248512634 + Silent SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248512634T>G uc010pzl.1 + 1 558 c.558T>G c.(556-558)TCT>TCG p.S186S NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TGAAGCTCTCTTGCTCTGACA 0.493 NA 10 78 0 0 0.008291 0 0 OR2T2 401992 broad.mit.edu 37 1 248616344 248616344 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248616344G>T uc001iek.1 + 1 246 c.246G>T c.(244-246)ATG>ATT p.M82I NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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) TCCCCAAGATGCTCCAGGACC 0.527 NA 10 201 3.27435e-08 4.21763e-08 0.00245 1 0 OR2G6 391211 broad.mit.edu 37 1 248685329 248685329 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248685329C>A uc001ien.1 + 1 382 c.382C>A c.(382-384)CGG>AGG p.R128R NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCTGTCTGCCGGCCACTGCG 0.597 NA 17 57 1.15088e-07 1.45828e-07 0.004007 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37422873 37422873 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:37422873G>A uc001iza.1 + 5 578 c.479G>A c.(478-480)GGA>GAA p.G160E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 216 ANK 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GTATGTCATGGATCATCAGAG 0.378 NA 11 137 0 0 0.001368 0 0 ZNF248 57209 broad.mit.edu 37 10 38121209 38121209 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:38121209C>G uc001izd.1 - 6 1573 c.1074G>C c.(1072-1074)GGG>GGC p.G358G ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Silent_p.G358G NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAATTACTCCCATTTTCAT 0.403 NA 29 89 0 0 0.005443 0 0 C10orf53 282966 broad.mit.edu 37 10 50916560 50916560 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:50916560G>A uc001jid.1 + 3 431 c.371G>A c.(370-372)GGA>GAA p.G124E NM_182554 NP_872360 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 isoform a Error:Variant_position_missing_in_Q8N6V4_after_alignment 0 all_neural(218;0.107) gcccagattggatcatgtatc 0 NA 19 181 0 0 0.007413 0 0 BICC1 80114 broad.mit.edu 37 10 60566792 60566792 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:60566792G>A uc001jki.1 + 17 2250 c.2250G>A c.(2248-2250)GAG>GAA p.E750E BICC1_uc001jkj.1_Silent_p.E391E NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 750 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 TGGTGACGGAGGTCAGAACGC 0.398 NA 7 48 0 0 0.00308 0 0 MYPN 84665 broad.mit.edu 37 10 69926137 69926137 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:69926137C>A uc001jnm.3 + 11 1872 c.1687C>A c.(1687-1689)CCC>ACC p.P563T MYPN_uc001jnl.1_Missense_Mutation_p.P563T|MYPN_uc001jnn.3_Missense_Mutation_p.P288T|MYPN_uc001jno.3_Missense_Mutation_p.P563T|MYPN_uc009xps.2_Missense_Mutation_p.P563T|MYPN_uc009xpt.2_Missense_Mutation_p.P563T|MYPN_uc010qit.1_Missense_Mutation_p.P269T|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 563 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 GCCCTCCCCACCCCACTCAGA 0.572 NA 11 42 5.16669e-11 6.90667e-11 0.010729 1 0 COL13A1 1305 broad.mit.edu 37 10 71707089 71707089 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:71707089G>A uc001jpr.1 + 36 2552 c.2016G>A c.(2014-2016)AAG>AAA p.K672K COL13A1_uc001jqj.1_Silent_p.K645K|COL13A1_uc001jps.1_Silent_p.K643K|COL13A1_uc001jpt.1_Silent_p.K631K|COL13A1_uc001jpu.1_Silent_p.K641K|COL13A1_uc001jpv.1_Silent_p.K646K|COL13A1_uc001jpx.1_Silent_p.K623K|COL13A1_uc001jpw.1_Silent_p.K619K|COL13A1_uc001jpy.1_Silent_p.K610K|COL13A1_uc001jpz.1_Silent_p.K615K|COL13A1_uc001jqa.1_Silent_p.K612K|COL13A1_uc001jqc.1_Silent_p.K657K|COL13A1_uc001jqb.1_Silent_p.K594K|COL13A1_uc001jql.2_Silent_p.K672K|COL13A1_uc001jqd.1_Silent_p.K660K|COL13A1_uc001jqe.1_Silent_p.K655K|COL13A1_uc001jqf.1_Silent_p.K653K|COL13A1_uc001jqg.1_Silent_p.K650K|COL13A1_uc001jqh.1_Silent_p.K660K|COL13A1_uc001jqi.1_Silent_p.K658K|COL13A1_uc010qjf.1_Silent_p.K447K NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 672 Extracellular (Potential).|Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CCGGGGACAAGGGAAACCGGG 0.527 NA 6 48 0 0 0.001984 0 0 H2AFY2 55506 broad.mit.edu 37 10 71851671 71851671 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:71851671G>A uc001jqm.2 + 4 897 c.438G>A c.(436-438)GGG>GGA p.G146G H2AFY2_uc001jqn.2_RNA NM_018649 NP_061119 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 146 Lys-rich. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding skin(1) 1 AGAAGGGGGGGAAGAAATCCA 0.537 NA 4 44 0 0 0.000602 0 0 SGPL1 8879 broad.mit.edu 37 10 72633268 72633268 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:72633268C>T uc001jrm.2 + 12 1442 c.1220C>T c.(1219-1221)GCC>GTC p.A407V SGPL1_uc009xqk.2_RNA NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 407 Cytoplasmic (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) TGTTGGGCTGCCTTGATGCAC 0.522 Colon(151;1054 2458 6676 40971) NA 6 114 0 0 0.001168 0 0 SEC24C 9632 broad.mit.edu 37 10 75525632 75525632 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:75525632C>T uc001juw.2 + 11 1620 c.1441C>T c.(1441-1443)CTG>TTG p.L481L SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Silent_p.L339L|SEC24C_uc001jux.2_Silent_p.L481L|SEC24C_uc010qko.1_Silent_p.L362L|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 481 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) TGAGCTATCCCTGGGCTCTTA 0.517 NA 28 141 0 0 0.007291 0 0 GHITM 27069 broad.mit.edu 37 10 85909813 85909813 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:85909813G>T uc001kcs.1 + 7 799 c.595G>T c.(595-597)GTG>TTG p.V199L GHITM_uc010qma.1_Missense_Mutation_p.V130L|GHITM_uc010qmb.1_Missense_Mutation_p.V129L NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 199 Helical; (Potential). apoptosis integral to membrane|mitochondrial inner membrane 0 TTCTCCAGGTGTGATGGGTGC 0.433 NA 17 62 3.5997e-14 4.96554e-14 0.002299 1 0 MYOF 26509 broad.mit.edu 37 10 95111578 95111578 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:95111578G>C uc001kin.2 - 33 3630 c.3507C>G c.(3505-3507)CTC>CTG p.L1169L MYOF_uc001kio.2_Silent_p.L1156L|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1169 Cytoplasmic (Potential).|C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 TGCTCCGATGGAGGAAACAGA 0.433 NA 5 38 0 0 0.001168 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609007 115609007 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:115609007C>G uc001law.2 - 2 2775 c.1857G>C c.(1855-1857)GAG>GAC p.E619D NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 619 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) AAAGCTGACTCTCATGTAAAG 0.403 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 9 86 0 0 0.008291 0 0 NUP98 4928 broad.mit.edu 37 11 3733881 3733881 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:3733881C>G uc001lyh.2 - 20 2946 c.2655G>C c.(2653-2655)AAG>AAC p.K885N NUP98_uc001lyi.2_Missense_Mutation_p.K885N|NUP98_uc001lyj.1_Missense_Mutation_p.K885N|NUP98_uc001lyk.1_Missense_Mutation_p.K902N NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 902 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TCTTCAACTTCTTTGTACTAG 0.478 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 9 109 0 0 0.008291 0 0 OR52E8 390079 broad.mit.edu 37 11 5878756 5878756 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:5878756C>A uc010qzr.1 - 1 177 c.177G>T c.(175-177)CAG>CAT p.Q59H TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 59 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGGAGACTCTGCTCAGTCT 0.468 NA 21 117 1.64113e-05 1.97647e-05 0.010504 1 0 BTBD10 84280 broad.mit.edu 37 11 13435091 13435091 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:13435091T>G uc001mkz.2 - 6 1051 c.794A>C c.(793-795)AAA>ACA p.K265T BTBD10_uc010rcl.1_Missense_Mutation_p.K273T|BTBD10_uc001mla.2_Missense_Mutation_p.K249T|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.K217T|BTBD10_uc010rcn.1_Missense_Mutation_p.K234T|BTBD10_uc009ygo.2_Missense_Mutation_p.K217T NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 265 nucleus 0 Epithelial(150;0.0214) ATCTCTACATTTAATAGTGCT 0.323 NA 3 44 0 0 0.009096 0 0 PDE3B 5140 broad.mit.edu 37 11 14865513 14865513 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:14865513C>A uc001mln.2 + 12 2814 c.2461C>A c.(2461-2463)CAT>AAT p.H821N PDE3B_uc010rcr.1_Missense_Mutation_p.H770N NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 821 Catalytic (By similarity). Divalent metal cation 1. cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 AGCTGCCATGCATGATTATGA 0.418 NA 23 62 1.42536e-11 1.93193e-11 0.004656 1 0 KCNA4 3739 broad.mit.edu 37 11 30033664 30033664 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:30033664C>A uc001msk.2 - 2 1714 c.562G>T c.(562-564)GAG>TAG p.E188* NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 188 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ATTTGGGTCTCAAAGCGTAGG 0.498 NA 15 39 1.3612e-06 1.69714e-06 0.003163 1 0 KCNA4 3739 broad.mit.edu 37 11 30033840 30033840 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:30033840T>G uc001msk.2 - 2 1538 c.386A>C c.(385-387)GAG>GCG p.E129A NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 129 Poly-Glu. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ttcctcctcctcctcatcttc 0.413 NA 6 41 0 0 0.001168 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137205 40137206 + Missense_Mutation DNP GG GG TT TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:40137205_40137206GG>TT uc001mxa.1 - 2 2601_2602 c.637_638CC>AA c.(637-639)CCT>AAT p.P213N LRRC4C_uc001mxc.1_Missense_Mutation_p.P209N|LRRC4C_uc001mxd.1_Missense_Mutation_p.P209N|LRRC4C_uc001mxb.1_Missense_Mutation_p.P209N NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 213 LRR 6. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TGTGAGGTTAGGGATTTCCCGA 0.455 NA 7 38 0 0 0.004672 0 0 OR4A5 81318 broad.mit.edu 37 11 51411644 51411644 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:51411644C>A uc001nhi.1 - 1 752 c.752G>T c.(751-753)TGT>TTT p.C251F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 251 Helical; Name=6; (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) TATGAAAATACAGGGTACAAA 0.388 NA 6 30 0.00116845 0.00129864 0.001168 1 0 OR5L1 219437 broad.mit.edu 37 11 55579362 55579362 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:55579362G>T uc001nhw.1 + 1 420 c.420G>T c.(418-420)GTG>GTT p.V140V NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) CTTGGAAGGTGCGTGTGGAGC 0.502 NA 14 106 0.000151284 0.000174111 0.001855 1 0 OR5J2 282775 broad.mit.edu 37 11 55944298 55944298 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:55944298G>T uc010rjb.1 + 1 205 c.205G>T c.(205-207)GTG>TTG p.V69L NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TCTTTCATTTGTGGATGCCTG 0.443 NA 10 147 0.000442599 0.000499047 0.006214 1 0 OR5M3 219482 broad.mit.edu 37 11 56237626 56237626 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:56237626C>A uc010rjk.1 - 1 348 c.348G>T c.(346-348)ATG>ATT p.M116I NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TATCAAAGGCCATCGCAGCAA 0.358 NA 5 71 0.000602214 0.000673165 0.000602 1 0 OR5B21 219968 broad.mit.edu 37 11 58275352 58275352 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:58275352G>A uc010rki.1 - 1 227 c.227C>T c.(226-228)GCC>GTC p.A76V NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CGTTTTGGGGGCTACAGCTGA 0.507 NA 6 54 0 0 0.00308 0 0 TM7SF2 7108 broad.mit.edu 37 11 64883032 64883032 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:64883032G>C uc001oct.2 + 9 1205 c.1058G>C c.(1057-1059)GGA>GCA p.G353A TM7SF2_uc010rny.1_Missense_Mutation_p.G237A|TM7SF2_uc001ocu.2_Missense_Mutation_p.G326A|TM7SF2_uc001ocv.2_Missense_Mutation_p.G374A|uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 353 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 AACTATCTTGGAGACCTCATC 0.592 NA 3 50 0 0 0.004672 0 0 PACS1 55690 broad.mit.edu 37 11 65983614 65983614 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:65983614G>T uc001oha.1 + 5 819 c.685G>T c.(685-687)GCA>TCA p.A229S PACS1_uc001ogz.1_Missense_Mutation_p.A229S NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 229 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 TAATGAAGGCGCACTGGTGCT 0.537 NA 13 58 2.61681e-11 3.52229e-11 0.00245 1 0 BBS1 582 broad.mit.edu 37 11 66282012 66282012 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:66282012C>T uc001oij.1 + 4 307 c.295C>T c.(295-297)CCC>TCC p.P99S BBS1_uc001oii.1_Missense_Mutation_p.P136S|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.P99S|BBS1_uc001oik.1_Missense_Mutation_p.P23S|BBS1_uc001oil.1_Missense_Mutation_p.P99S NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 99 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding ovary(1) 1 GCAACATGAGCCCCGGACCCC 0.572 GBM(152;173 2612 9770 10137) NA Bardet-Biedl_syndrome 13 184 0 0 0.001855 0 0 CLPB 81570 broad.mit.edu 37 11 72145270 72145270 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:72145270G>C uc001osj.2 - 1 299 c.249C>G c.(247-249)CTC>CTG p.L83L CLPB_uc010rqx.1_Missense_Mutation_p.R3G|CLPB_uc010rqy.1_Silent_p.L83L|CLPB_uc001osk.2_Silent_p.L83L|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 83 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 TGGCAGCCGCGAGGCATTTGG 0.692 NA OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 69 0 0 0.006214 0 0 RNF169 254225 broad.mit.edu 37 11 74547638 74547638 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:74547638C>T uc001ovl.3 + 6 2003 c.1990C>T c.(1990-1992)CAG>TAG p.Q664* XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN ring finger protein 169 664 zinc ion binding ovary(1) 1 GCAGAAGCTTCAGCAAGAGGA 0.537 NA 6 75 0 0 0.001168 0 0 FAT3 120114 broad.mit.edu 37 11 92086102 92086102 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:92086102C>A uc001pdj.3 + 1 841 c.824C>A c.(823-825)TCG>TAG p.S275* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 275 Cadherin 3.|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) GTTCCTTTCTCGTTGGAAAAA 0.448 NA TCGA Ovarian(4;0.039) 13 102 0.00010058 0.0001161 0.001368 1 0 C11orf54 28970 broad.mit.edu 37 11 93488502 93488502 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:93488502C>T uc009ywi.2 + 7 788 c.457C>T c.(457-459)CAG>TAG p.Q153* C11orf54_uc001pee.1_Intron|C11orf54_uc001pef.2_Nonsense_Mutation_p.Q153*|C11orf54_uc001peg.2_Nonsense_Mutation_p.Q153*|C11orf54_uc001peh.2_Nonsense_Mutation_p.Q153*|C11orf54_uc001pei.2_Nonsense_Mutation_p.Q134*|C11orf54_uc001pej.2_Nonsense_Mutation_p.Q134*|C11orf54_uc001pek.2_Nonsense_Mutation_p.Q42* NM_014039 NP_054758 Q9H0W9 CK054_HUMAN hypothetical protein LOC28970 153 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCATGATTTTCAGTGTGCATT 0.423 NA 4 42 0 0 0.009096 0 0 TRPC6 7225 broad.mit.edu 37 11 101344457 101344457 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:101344457G>C uc001pgk.3 - 7 2217 c.1792C>G c.(1792-1794)CTT>GTT p.L598V TRPC6_uc009ywy.2_Missense_Mutation_p.L482V|TRPC6_uc009ywz.1_Missense_Mutation_p.L543V NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 598 Helical; (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ATTGCATAAAGACCTTCAGAT 0.363 Colon(166;1315 1927 11094 12848 34731) NA 3 59 0 0 0.004672 0 0 HYOU1 10525 broad.mit.edu 37 11 118925964 118925964 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:118925964C>A uc001puu.2 - 5 545 c.352G>T c.(352-354)GCC>TCC p.A118S HYOU1_uc001put.2_Missense_Mutation_p.A83S|HYOU1_uc010ryu.1_Missense_Mutation_p.A138S|HYOU1_uc010ryv.1_Intron|HYOU1_uc001pux.3_Missense_Mutation_p.A118S|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.A118S NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 118 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) GGGAAGCGGGCCTGGTAAAGA 0.567 NA 16 102 8.60227e-14 1.18243e-13 0.004007 1 0 ABCG4 64137 broad.mit.edu 37 11 119027683 119027683 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:119027683G>A uc001pvs.2 + 9 1363 c.1027G>A c.(1027-1029)GAG>AAG p.E343K ABCG4_uc009zar.2_Missense_Mutation_p.E343K NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 343 Cytoplasmic (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 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) GAGCAGCCCTGAGAAGAACGA 0.607 NA 8 104 0 0 0.006214 0 0 TECTA 7007 broad.mit.edu 37 11 121032845 121032845 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:121032845G>T uc010rzo.1 + 15 5038 c.5038G>T c.(5038-5040)GTG>TTG p.V1680L NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1680 VWFD 4. 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) GTGTGACAATGTGCACATCCA 0.537 NA 10 93 2.17888e-05 2.592e-05 0.006214 1 0 CRTAM 56253 broad.mit.edu 37 11 122738175 122738175 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:122738175G>T uc001pyj.2 + 8 876 c.876G>T c.(874-876)ACG>ACT p.T292T CRTAM_uc001pyk.2_Silent_p.T93T NM_019604 NP_062550 O95727 CRTAM_HUMAN class-I MHC-restricted T cell associated 292 Helical; (Potential). cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding ovary(1) 1 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGCTGCTCACGCTGGTGTCCT 0.418 NA 3 20 0.004672 0.00511946 0.004672 1 0 OR10G4 390264 broad.mit.edu 37 11 123886957 123886957 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:123886957C>T uc010sac.1 + 1 676 c.676C>T c.(676-678)CGG>TGG p.R226W NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TTCCATCCTGCGGATCCGCAC 0.517 NA 5 97 0 0 0.001984 0 0 IGSF9B 22997 broad.mit.edu 37 11 133791250 133791250 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:133791250G>A uc001qgx.3 - 18 2601 c.2370C>T c.(2368-2370)CTC>CTT p.L790L NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 790 Cytoplasmic (Potential). 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) ACGGCGCTCGGAGCGTGCGGA 0.657 NA 4 34 0 0 0.009096 0 0 WNK1 65125 broad.mit.edu 37 12 992609 992609 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:992609C>G uc001qio.3 + 16 4045 c.3538C>G c.(3538-3540)CAA>GAA p.Q1180E WNK1_uc001qip.3_Missense_Mutation_p.Q933E|WNK1_uc001qir.3_Missense_Mutation_p.Q353E NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1180 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTTTGTGGATCAAGTGCGAGA 0.388 Colon(19;451 567 6672 12618 28860) NA 3 39 0 0 0.004672 0 0 WNK1 65125 broad.mit.edu 37 12 1006841 1006841 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:1006841C>T uc001qio.3 + 25 6949 c.6442C>T c.(6442-6444)CTT>TTT p.L2148F WNK1_uc001qip.3_Missense_Mutation_p.L1900F|WNK1_uc001qir.3_Missense_Mutation_p.L1321F|WNK1_uc009zdm.1_5'Flank|WNK1_uc009zdn.1_5'Flank NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2148 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AAGCCCCCAGCTTTCAGGTAA 0.488 Colon(19;451 567 6672 12618 28860) NA 3 25 0 0 0.004672 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6436574 6436574 + Missense_Mutation SNP C C T rs71584817 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:6436574C>T uc001qnr.2 + 15 1973 c.1825C>T c.(1825-1827)CGC>TGC p.R609C PLEKHG6_uc010sew.1_Missense_Mutation_p.R609C|PLEKHG6_uc010sex.1_Missense_Mutation_p.R577C NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN pleckstrin homology domain-containing family G 609 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity large_intestine(1)|skin(1) 2 GAGCCGTCTACGCCAAAGAGC 0.647 NA 6 156 0 0 0.001984 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48132935 48132935 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:48132935G>A uc009zkp.2 - 23 2766 c.2326C>T c.(2326-2328)CTT>TTT p.L776F uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Missense_Mutation_p.L111F|RAPGEF3_uc001rpx.2_Missense_Mutation_p.L233F|RAPGEF3_uc010sln.1_Missense_Mutation_p.L273F|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.L776F|RAPGEF3_uc001rpz.3_Missense_Mutation_p.L818F NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 776 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CCTTTGAGAAGAAGGGGCATG 0.348 NA 6 28 0 0 0.00308 0 0 COL2A1 1280 broad.mit.edu 37 12 48372469 48372469 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:48372469C>T uc001rqu.2 - 42 2987 c.2806G>A c.(2806-2808)GGC>AGC p.G936S COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G867S NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 936 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCAGGGGGGCCGCTGTCTCCT 0.637 NA 6 33 0 0 0.001984 0 0 RHEBL1 121268 broad.mit.edu 37 12 49460259 49460259 + Missense_Mutation SNP C C T rs148047837 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:49460259C>T uc001rtc.1 - 5 539 c.332G>A c.(331-333)CGG>CAG p.R111Q RHEBL1_uc001rtd.1_Missense_Mutation_p.R107Q|RHEBL1_uc009zlc.1_RNA NM_144593 NP_653194 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 precursor 111 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding lung(1)|breast(1) 2 GGCCACTTACCGGGTTTTCCC 0.483 NA 14 457 0 0 0.004007 0 0 KRT7 3855 broad.mit.edu 37 12 52635264 52635264 + Silent SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:52635264A>T uc001saa.1 + 5 829 c.702A>T c.(700-702)ACA>ACT p.T234T KRT7_uc009zmf.1_Silent_p.T234T NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 234 Rod.|Coil 1B. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) AGGAGTTGACAGAGCTGCAGT 0.577 NA 4 64 0 0 0.001168 0 0 LRP1 4035 broad.mit.edu 37 12 57590912 57590912 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:57590912C>T uc001snd.2 + 56 9506 c.9040C>T c.(9040-9042)CGC>TGC p.R3014C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3014 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). 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) CTATGCACCCCGCGGCGGCGA 0.637 NA 9 72 0 0 0.004482 0 0 SRGAP1 57522 broad.mit.edu 37 12 64437229 64437229 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:64437229A>G uc010ssp.1 + 6 731 c.675A>G c.(673-675)AGA>AGG p.R225R SRGAP1_uc001srt.2_Silent_p.R225R|SRGAP1_uc001srv.2_Silent_p.R185R NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 225 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CATTCCAGAGACAAGCAAAAT 0.333 NA 4 21 0 0 0.009096 0 0 SELPLG 6404 broad.mit.edu 37 12 109017937 109017937 + Silent SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:109017937T>C uc001tni.2 - 2 307 c.147A>G c.(145-147)CTA>CTG p.L49L SELPLG_uc001tnh.2_Silent_p.L49L|SELPLG_uc010sxe.1_Silent_p.L65L NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 49 Extracellular (Potential). YEYLDY->FEFLDF: No sulfation. Almost complete loss of P-selectin binding. No effect on E-selectin binding.|YEYLDYD->FEFLDFE: No sulfation. Almost complete loss of P-selectin binding. No effect on E-selectin binding. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 AATCATAATCTAGGTACTCAT 0.572 NA 3 54 0 0 0.009096 0 0 TBX5 6910 broad.mit.edu 37 12 114793577 114793577 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:114793577C>G uc001tvo.2 - 9 1812 c.1317G>C c.(1315-1317)CTG>CTC p.L439L TBX5_uc001tvp.2_Silent_p.L439L|TBX5_uc001tvq.2_Silent_p.L389L NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 439 MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCATGCCAGCCAGCCGAGGGA 0.662 NSCLC(152;1358 1980 4050 23898 40356) NA 4 28 0 0 0.009096 0 0 RFC5 5985 broad.mit.edu 37 12 118467620 118467620 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:118467620G>A uc001twq.2 + 10 1041 c.916G>A c.(916-918)GCA>ACA p.A306T RFC5_uc010syx.1_Missense_Mutation_p.A285T|RFC5_uc010syy.1_Missense_Mutation_p.A285T|RFC5_uc010syz.1_Missense_Mutation_p.A221T|RFC5_uc009zwr.2_Missense_Mutation_p.A303T NM_007370 NP_031396 P40937 RFC5_HUMAN replication factor C 5 isoform 1 306 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACCAAAATGGCAGACATTGA 0.358 NA 10 99 0 0 0.001855 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124235710 124235710 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:124235710C>T uc001ufr.2 + 16 2237 c.1989C>T c.(1987-1989)CTC>CTT p.L663L NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 663 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TCCCTGTCCTCTTCTTGGGAA 0.502 NA 19 126 0 0 0.006122 0 0 ZMYM5 9205 broad.mit.edu 37 13 20409647 20409647 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:20409647G>A uc010tcn.1 - 7 1486 c.1221C>T c.(1219-1221)TGC>TGT p.C407C ZMYM5_uc001umm.1_Silent_p.C231C NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 407 MYM-type 4. nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) AACTTTGGCAGCAAAATCTCT 0.373 NA 3 47 0 0 0.004672 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895869 24895869 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:24895869C>A uc001upj.2 + 4 1026 c.965C>A c.(964-966)ACA>AAA p.T322K C1QTNF9_uc001upe.2_RNA NM_178540 NP_848635 P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 322 C1q. collagen hormone activity 0 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GACGATGACACAACTTTCACA 0.517 NA 16 172 0.000422831 0.000479538 0.004007 1 0 FREM2 341640 broad.mit.edu 37 13 39266294 39266294 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:39266294A>C uc001uwv.2 + 1 5122 c.4813A>C c.(4813-4815)AAA>CAA p.K1605Q NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1605 Extracellular (Potential).|CSPG 11. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AATCAGCTACAAACATGATGG 0.418 NA 4 67 0 0 0.009096 0 0 NEK3 4752 broad.mit.edu 37 13 52707317 52707317 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:52707317C>T uc001vgi.2 - 18 1717 c.1482G>A c.(1480-1482)CTG>CTA p.L494L NEK3_uc001vgg.2_Silent_p.L471L|NEK3_uc001vgh.2_Silent_p.L498L|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Silent_p.L477L NM_152720 NP_689933 P51956 NEK3_HUMAN NIMA-related kinase 3 isoform a 494 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) CTCGCTTCTTCAGCTCTGACA 0.498 NA 5 17 0 0 0.000602 0 0 PCDH9 5101 broad.mit.edu 37 13 67801390 67801390 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:67801390C>A uc001vik.2 - 2 1875 c.1183G>T c.(1183-1185)GTG>TTG p.V395L PCDH9_uc001vil.2_Missense_Mutation_p.V395L|PCDH9_uc010thl.1_Missense_Mutation_p.V395L|PCDH9_uc001vin.3_Missense_Mutation_p.V395L NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 395 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTGCCATTCACATCTGTGTCC 0.373 NA 4 82 0.00909568 0.00980116 0.009096 1 0 CARKD 55739 broad.mit.edu 37 13 111290831 111290831 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:111290831A>T uc001vrb.2 + 10 1014 c.1000A>T c.(1000-1002)ATC>TTC p.I334F CARKD_uc010tjj.1_Missense_Mutation_p.I316F|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.I224F|CARKD_uc010tjl.1_Missense_Mutation_p.I203F|CARKD_uc001vrc.2_Missense_Mutation_p.D379V Q8IW45 CARKD_HUMAN RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor; 334 YjeF C-terminal. skin(1) 1 CTCCGACATGATCGCCGAGGT 0.632 NA 15 64 0 0 0.004007 0 0 PARP2 10038 broad.mit.edu 37 14 20815046 20815046 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:20815046G>C uc001vxc.2 + 4 365 c.337G>C c.(337-339)GAT>CAT p.D113H PARP2_uc001vxd.2_Missense_Mutation_p.D100H|PARP2_uc001vxb.1_Missense_Mutation_p.D113H NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase family, member 2 113 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity ovary(1)|pancreas(1) 2 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) TGAAGGAAATGATGTCTATGA 0.368 NA Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 5 40 0 0 0.001168 0 0 OR4E2 26686 broad.mit.edu 37 14 22133768 22133768 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:22133768G>T uc010tmd.1 + 1 472 c.472G>T c.(472-474)GGG>TGG p.G158W NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TCACTCACTAGGGCAGACCTT 0.488 NA 15 114 2.32078e-09 3.06029e-09 0.003163 1 0 FERMT2 10979 broad.mit.edu 37 14 53325133 53325133 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:53325133C>T uc001xad.2 - 15 2060 c.2005G>A c.(2005-2007)GAA>AAA p.E669K FERMT2_uc001xac.2_Missense_Mutation_p.E676K|FERMT2_uc001xae.2_Missense_Mutation_p.E669K NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 669 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) AACATCTCTTCATCTAAACTC 0.363 NA 9 60 0 0 0.010729 0 0 PRKCH 5583 broad.mit.edu 37 14 61997242 61997242 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:61997242G>A uc001xfn.2 + 12 1995 c.1690G>A c.(1690-1692)GAG>AAG p.E564K PRKCH_uc010tsa.1_Missense_Mutation_p.E403K|PRKCH_uc010tsb.1_Missense_Mutation_p.E132K NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 564 Protein kinase. 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) TGACCTCTTTGAGGCCATACT 0.522 Melanoma(135;863 1779 8064 14443 26348) NA 12 86 0 0 0.001855 0 0 KCNH5 27133 broad.mit.edu 37 14 63174541 63174541 + Silent SNP C C A rs143147156 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:63174541C>A uc001xfx.2 - 11 2703 c.2652G>T c.(2650-2652)CCG>CCT p.P884P KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 884 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGTGCTCTAGCGGACTTCGGG 0.502 NA 16 100 4.7546e-09 6.20651e-09 0.004007 1 0 ESRRB 2103 broad.mit.edu 37 14 76948464 76948464 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:76948464A>T uc001xsq.1 + 4 687 c.620A>T c.(619-621)AAG>ATG p.K207M ESRRB_uc001xsr.2_Missense_Mutation_p.K207M|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 207 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCTGCTAAAAAGCCATGTGAG 0.542 NA 5 42 0 0 0.000602 0 0 ADCK1 57143 broad.mit.edu 37 14 78353523 78353523 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:78353523G>T uc001xui.2 + 5 612 c.513G>T c.(511-513)CGG>CGT p.R171R ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.2_Silent_p.R103R|ADCK1_uc001xuk.1_Silent_p.R45R NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 178 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ATGATGGGCGGACGGTGGCCG 0.607 NA 8 98 0.000157383 0.000180065 0.00308 1 0 RYR3 6263 broad.mit.edu 37 15 34151830 34151830 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:34151830G>C uc001zhi.2 + 100 14267 c.14197G>C c.(14197-14199)GAA>CAA p.E4733Q RYR3_uc010bar.2_Missense_Mutation_p.E4728Q NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4733 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) CATTGGTGATGAAATTGAAGA 0.423 NA 4 41 0 0 0.009096 0 0 GPR176 11245 broad.mit.edu 37 15 40093560 40093561 + Nonsense_Mutation DNP CC CC AT TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:40093560_40093561CC>AT uc001zkj.1 - 3 2186_2187 c.1320_1321GG>AT c.(1318-1323)GTGGAA>GTATAA p.E441* GPR176_uc010uck.1_Nonsense_Mutation_p.E381* NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 441 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) GTTTCAGGTTCCACAGGGGCTG 0.594 NA 6 140 0 0 0.004672 0 0 MGA 23269 broad.mit.edu 37 15 42041375 42041375 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:42041375C>T uc010ucy.1 + 17 5751 c.5570C>T c.(5569-5571)TCG>TTG p.S1857L MGA_uc010ucz.1_Missense_Mutation_p.S1648L|MGA_uc010uda.1_Missense_Mutation_p.S473L|MGA_uc001zoi.2_Missense_Mutation_p.S71L NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1818 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCTTCCACTTCGTCCTCTGCT 0.443 NA 6 81 0 0 0.001984 0 0 MGA 23269 broad.mit.edu 37 15 42041491 42041491 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:42041491C>T uc010ucy.1 + 17 5867 c.5686C>T c.(5686-5688)CAG>TAG p.Q1896* MGA_uc010ucz.1_Nonsense_Mutation_p.Q1687*|MGA_uc010uda.1_Nonsense_Mutation_p.Q512*|MGA_uc001zoi.2_Nonsense_Mutation_p.Q110* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1857 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTTTGTGTCTCAGGCTGGTAC 0.438 NA 5 51 0 0 0.000602 0 0 C2CD4A 145741 broad.mit.edu 37 15 62360140 62360140 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:62360140G>C uc002ahf.3 + 2 469 c.328G>C c.(328-330)GAG>CAG p.E110Q NM_207322 NP_997205 Q8NCU7 C2C4A_HUMAN nuclear localized factor 1 110 nucleus 0 CGCGCTGCTCGAGAGCCCGCA 0.517 NA 2 9 0 0 0.004672 0 0 DIS3L 115752 broad.mit.edu 37 15 66621441 66621441 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:66621441G>A uc010ujm.1 + 13 2350 c.2335G>A c.(2335-2337)GAG>AAG p.E779K DIS3L_uc002app.2_Missense_Mutation_p.E696K|DIS3L_uc010bho.2_Missense_Mutation_p.E645K NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 779 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 ATCCTGTGCGGAGGAGGAGTT 0.468 NA 5 61 0 0 0.000602 0 0 LOXL1 4016 broad.mit.edu 37 15 74219600 74219600 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:74219600C>G uc002awc.1 + 1 812 c.476C>G c.(475-477)TCG>TGG p.S159W uc002awa.1_Intron|uc002awb.1_Intron NM_005576 NP_005567 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 preproprotein 159 protein deamination extracellular space copper ion binding 0 TCCTCGGTCTCGGCTTCGGCC 0.711 NA 7 76 0 0 0.00308 0 0 FSD2 123722 broad.mit.edu 37 15 83456108 83456108 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:83456108T>G uc002bjd.2 - 2 202 c.35A>C c.(34-36)GAC>GCC p.D12A FSD2_uc010uol.1_Missense_Mutation_p.D12A|FSD2_uc010uom.1_Missense_Mutation_p.D12A NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 12 central_nervous_system(1) 1 AGTAGACCTGTCCAGCCCCAG 0.468 NA 6 64 0 0 0.001168 0 0 ZNF592 9640 broad.mit.edu 37 15 85345225 85345225 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:85345225G>A uc002bld.2 + 11 3741 c.3405G>A c.(3403-3405)TCG>TCA p.S1135S ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 1135 C2H2-type 12; atypical. cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACAGACTCGGGGCTCGAGT 0.562 NA 5 43 0 0 0.000602 0 0 SOX8 30812 broad.mit.edu 37 16 1034985 1034985 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:1034985C>A uc002ckn.2 + 3 1055 c.940C>A c.(940-942)CCC>ACC p.P314T NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 314 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) CGGGGCGTCCCCCGTGTGGGC 0.756 NA 5 11 1.23904e-05 1.49685e-05 0.000602 1 0 ADCY9 115 broad.mit.edu 37 16 4164189 4164189 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:4164189G>A uc002cvx.2 - 2 1794 c.1255C>T c.(1255-1257)CTG>TTG p.L419L NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 419 Cytoplasmic (Potential).|Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 AGATCGTTCAGGAGACCCACC 0.532 NA 10 65 0 0 0.006214 0 0 SEC14L5 9717 broad.mit.edu 37 16 5038216 5038216 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:5038216C>G uc002cye.2 + 4 460 c.280C>G c.(280-282)CTC>GTC p.L94V NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 94 PRELI/MSF1. integral to membrane|intracellular transporter activity 0 GAGGACGCTCCTCATCGAAGC 0.632 NA 5 38 0 0 0.000602 0 0 ABCC6 368 broad.mit.edu 37 16 16302622 16302622 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:16302622C>G uc002den.3 - 7 794 c.757G>C c.(757-759)GAA>CAA p.E253Q ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.E265Q NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 253 Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CACTCCTTTTCAAGCCGGGAA 0.507 NA 9 85 0 0 0.004482 0 0 KCTD19 146212 broad.mit.edu 37 16 67325290 67325290 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:67325290G>T uc002esu.2 - 14 2538 c.2487C>A c.(2485-2487)GAC>GAA p.D829E KCTD19_uc002est.2_Missense_Mutation_p.D601E|KCTD19_uc010vjj.1_Missense_Mutation_p.D572E NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 829 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CCATGATGATGTCAGCCAGGA 0.517 NA 4 47 0.000602214 0.000673165 0.000602 1 0 GAN 8139 broad.mit.edu 37 16 81399073 81399073 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:81399073G>A uc002fgo.2 + 9 1640 c.1492G>A c.(1492-1494)GAG>AAG p.E498K NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 498 Kelch 5. cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) CTACCATGATGAGTTTAAAAG 0.428 GBM(106;1239 1507 7582 9741 33976) NA 9 86 0 0 0.004482 0 0 OSGIN1 29948 broad.mit.edu 37 16 83999139 83999139 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:83999139G>C uc002fha.2 + 7 1593 c.1210G>C c.(1210-1212)GAC>CAC p.D404H OSGIN1_uc002fhb.2_Missense_Mutation_p.D321H|OSGIN1_uc002fhc.2_Missense_Mutation_p.D321H NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 404 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 GGCCGTGGACGACCCTGGCCT 0.652 NA 4 46 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7573991 7573991 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:7573991C>A uc002gim.2 - 10 1230 c.1036G>T c.(1036-1038)GAG>TAG p.E346* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E214*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E346* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 346 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2. E -> A (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L344fs*23(2)|p.L344fs*22(1)|p.E346A(1)|p.?(1)|p.E346*(1)|p.I332fs*5(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) TCCAAGGCCTCATTCAGCTCT 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) 9 49 1.58986e-06 1.96961e-06 0.008291 1 0 MYH1 4619 broad.mit.edu 37 17 10419566 10419566 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:10419566G>A uc002gmo.2 - 4 392 c.298C>T c.(298-300)CCT>TCT p.P100S uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 100 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AGCACAGCAGGCTCGTGTAGA 0.463 NA 17 110 0 0 0.00499 0 0 ATAD5 79915 broad.mit.edu 37 17 29205039 29205039 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:29205039G>A uc002hfs.1 + 17 4283 c.3937G>A c.(3937-3939)GAA>AAA p.E1313K NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1313 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AATTTTTGATGAAGATGCTGG 0.284 NA 7 84 0 0 0.001984 0 0 C17orf50 146853 broad.mit.edu 37 17 34091593 34091593 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:34091593G>A uc002hjx.2 + 3 526 c.481G>A c.(481-483)GAT>AAT p.D161N MMP28_uc002hjw.1_Intron NM_145272 NP_660315 Q8WW18 CQ050_HUMAN hypothetical protein LOC146853 161 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGCGTTCTGGATCACCCGGA 0.662 NA 12 23 0 0 0.003163 0 0 CCL16 6360 broad.mit.edu 37 17 34304721 34304721 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:34304721C>T uc002hkl.2 - 3 311 c.244G>A c.(244-246)GAC>AAC p.D82N CCL16_uc002hkm.2_RNA NM_004590 NP_004581 O15467 CCL16_HUMAN small inducible cytokine A16 precursor 82 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGACCCAGTCGTCATTGGGG 0.522 NA 8 110 0 0 0.004482 0 0 TNS4 84951 broad.mit.edu 37 17 38643291 38643291 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:38643291C>A uc010cxb.2 - 4 1449 c.1285G>T c.(1285-1287)GAG>TAG p.E429* NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 429 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) GACGTACCCTCTGGGCATGTG 0.458 NA 23 347 2.39556e-15 3.32812e-15 0.00278 1 0 DBF4B 80174 broad.mit.edu 37 17 42818707 42818707 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:42818707G>C uc002ihf.2 + 10 930 c.717G>C c.(715-717)AAG>AAC p.K239N DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Missense_Mutation_p.K53N|DBF4B_uc010wjc.1_Missense_Mutation_p.K223N NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 239 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) GTTGCAGGAAGTTTCGTCCTT 0.493 NA 9 94 0 0 0.010729 0 0 C17orf46 124783 broad.mit.edu 37 17 43333147 43333147 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:43333147C>G uc002iis.1 - 4 498 c.402G>C c.(400-402)CGG>CGC p.R134R LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.R113R NM_152343 NP_689556 Q96LK8 CQ046_HUMAN hypothetical protein LOC124783 134 large_intestine(1)|ovary(1) 2 CCGTGAAACTCCGGCAGTTTG 0.567 NA 6 107 0 0 0.001168 0 0 MBTD1 54799 broad.mit.edu 37 17 49280153 49280153 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:49280153A>G uc002itr.3 - 10 1316 c.972T>C c.(970-972)GAT>GAC p.D324D MBTD1_uc002itp.3_Silent_p.D160D|MBTD1_uc002itq.3_Silent_p.D324D NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 324 MBT 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CATCTGTTCTATCTTCGCTTT 0.423 NA 9 117 0 0 0.006214 0 0 C17orf47 284083 broad.mit.edu 37 17 56621265 56621265 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:56621265C>G uc002iwq.1 - 1 419 c.283G>C c.(283-285)GAA>CAA p.E95Q NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 95 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGGATGATTCTGTTCTTGGT 0.537 NA 5 55 0 0 0.000602 0 0 HELZ 9931 broad.mit.edu 37 17 65103325 65103325 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:65103325G>C uc010wqk.1 - 31 5391 c.5204C>G c.(5203-5205)TCT>TGT p.S1735C HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.S1734C NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TACTGTTCGAGATGACAATGG 0.398 NA 7 147 0 0 0.001984 0 0 SDK2 54549 broad.mit.edu 37 17 71427671 71427671 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:71427671C>T uc010dfm.2 - 11 1450 c.1450G>A c.(1450-1452)GAT>AAT p.D484N SDK2_uc010dfn.2_Missense_Mutation_p.D163N NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 484 Ig-like C2-type 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 GAGGCCTCATCGACCCCCCGA 0.597 NA 19 172 0 0 0.010504 0 0 KIF19 124602 broad.mit.edu 37 17 72350304 72350304 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:72350304G>A uc002jkm.3 + 18 2450 c.2312G>A c.(2311-2313)AGG>AAG p.R771K NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 771 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GCTGCAGAGAGGAAGGAGATC 0.607 NA 5 84 0 0 0.000602 0 0 BAHCC1 57597 broad.mit.edu 37 17 79410070 79410070 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:79410070G>C uc002kaf.2 + 3 1695 c.1695G>C c.(1693-1695)AAG>AAC p.K565N BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 565 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CTGAGGCCAAGCGCAAGTCCC 0.716 NA 4 42 0 0 0.009096 0 0 SIRT7 51547 broad.mit.edu 37 17 79875977 79875977 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:79875977G>A uc002kcj.1 - 1 64 c.31C>T c.(31-33)CGC>TGC p.R11C SIRT7_uc002kck.1_5'UTR|SIRT7_uc002kcl.1_5'UTR NM_016538 NP_057622 Q9NRC8 SIRT7_HUMAN sirtuin 7 11 Arg-rich. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCCGCTTTGCGCTCGGAGCGG 0.597 NA 5 39 0 0 0.001984 0 0 ZNF521 25925 broad.mit.edu 37 18 22804498 22804498 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr18:22804498C>T uc002kvk.2 - 4 3631 c.3384G>A c.(3382-3384)GAG>GAA p.E1128E ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.E1128E|ZNF521_uc002kvl.2_Silent_p.E908E NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1128 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGCCTTTCCCCTCAATGGCAC 0.542 NA T PAX5 ALL 9 51 0 0 0.004482 0 0 CCBE1 147372 broad.mit.edu 37 18 57103325 57103325 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr18:57103325G>T uc002lib.2 - 11 1106 c.1036C>A c.(1036-1038)CGC>AGC p.R346S CCBE1_uc010dpq.2_Missense_Mutation_p.R75S|CCBE1_uc002lia.2_Missense_Mutation_p.R199S NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 346 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) ATGTCATTGCGGATGTCAGCC 0.522 NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524) NA 13 118 3.27435e-08 4.21763e-08 0.00245 1 0 STK11 6794 broad.mit.edu 37 19 1218415 1218415 + Splice_Site SNP G G T rs112675807 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:1218415G>T uc002lrl.1 + 2 1406 c.291_splice c.e2-1 p.K97_splice NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTGTCCCAGGGAAATTCAA 0.522 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 23 106 3.62473e-10 4.79599e-10 0.012319 1 0 DAPK3 1613 broad.mit.edu 37 19 3964802 3964802 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:3964802C>T uc002lzc.1 - 2 343 c.250G>A c.(250-252)GAG>AAG p.E84K DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Missense_Mutation_p.E84K NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 84 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTTGTTCTCGAAGATGTCG 0.632 NA 14 86 0 0 0.001855 0 0 LASS4 79603 broad.mit.edu 37 19 8326635 8326635 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:8326635C>G uc002mjg.2 + 11 1232 c.912C>G c.(910-912)TTC>TTG p.F304L LASS4_uc002mjh.2_Missense_Mutation_p.F253L|LASS4_uc002mji.2_Missense_Mutation_p.F140L|LASS4_uc010dvz.2_Intron NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 304 TLC.|Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 GCTACTACTTCTTCAACGGGC 0.552 NA 8 65 0 0 0.00308 0 0 PRAM1 84106 broad.mit.edu 37 19 8563881 8563881 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:8563881T>C uc002mkd.2 - 2 831 c.811A>G c.(811-813)AAA>GAA p.K271E PRAM1_uc002mkc.2_Missense_Mutation_p.K271E NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 319 Pro-rich. lipid binding|protein binding 0 GAGGCCTTTTTGGGAAAGGCG 0.632 NA 14 40 0 0 0.00245 0 0 MUC16 94025 broad.mit.edu 37 19 9061796 9061796 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:9061796C>T uc002mkp.2 - 3 25854 c.25650G>A c.(25648-25650)CCG>CCA p.P8550P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8552 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 AGGGAAGGCTCGGCCATGGCA 0.498 NA 5 42 0 0 0.000602 0 0 OR7G2 390882 broad.mit.edu 37 19 9213383 9213383 + Nonsense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:9213383A>T uc010xkk.1 - 1 600 c.600T>A c.(598-600)TGT>TGA p.C200* NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAGCCAGTTCACAGAAGAAGA 0.473 Esophageal Squamous(67;143 1448 28637 40648) NA 6 48 0 0 0.001168 0 0 OR7G1 125962 broad.mit.edu 37 19 9226385 9226385 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:9226385C>T uc002mks.1 - 1 55 c.55G>A c.(55-57)GAG>AAG p.E19K NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TCTGGGTCCTCTGTCACTTTC 0.433 NA 8 90 0 0 0.006214 0 0 CARM1 10498 broad.mit.edu 37 19 11031219 11031219 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:11031219C>T uc002mpz.2 + 11 1430 c.1304C>T c.(1303-1305)TCA>TTA p.S435L CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.S218L NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 435 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 GACACGCTCTCAGGGACATGT 0.637 NA 4 44 0 0 0.009096 0 0 CARM1 10498 broad.mit.edu 37 19 11032406 11032406 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:11032406G>A uc002mpz.2 + 16 1926 c.1800G>A c.(1798-1800)CCG>CCA p.P600P CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Silent_p.P360P NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 600 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 TGTCCATCCCGACCAACACCA 0.557 NA 8 84 0 0 0.006214 0 0 C19orf43 79002 broad.mit.edu 37 19 12842184 12842184 + Missense_Mutation SNP C C A rs11542951 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:12842184C>A uc002muu.2 - 2 455 c.397G>T c.(397-399)GCC>TCC p.A133S NM_024038 NP_076943 Q9BQ61 CS043_HUMAN hypothetical protein MGC2803 133 0 TGCTTCTTGGCTACTATTCCC 0.597 NA 11 58 3.07112e-06 3.78058e-06 0.010729 1 0 CYP4F3 4051 broad.mit.edu 37 19 15760837 15760837 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:15760837G>A uc002nbj.2 + 7 812 c.762G>A c.(760-762)CAG>CAA p.Q254Q CYP4F3_uc010xok.1_Silent_p.Q254Q|CYP4F3_uc010xol.1_Silent_p.Q254Q|CYP4F3_uc010xom.1_Silent_p.Q105Q|CYP4F3_uc002nbk.2_Silent_p.Q254Q|CYP4F3_uc010xon.1_5'UTR NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 254 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 CTGATGGGCAGCGTTTCCGCA 0.577 NA 37 103 0 0 0.005524 0 0 SPTBN4 57731 broad.mit.edu 37 19 41063206 41063206 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:41063206G>A uc002ony.2 + 26 5653 c.5567G>A c.(5566-5568)CGG>CAG p.R1856Q SPTBN4_uc002onx.2_Missense_Mutation_p.R1856Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R1856Q|SPTBN4_uc010egx.2_Missense_Mutation_p.R599Q|SPTBN4_uc002ooa.2_Missense_Mutation_p.R532Q NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1856 Spectrin 16. 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) AAGCGGAGGCGGCTGCCCCGC 0.647 NA 6 59 0 0 0.001168 0 0 CYP2A7 1549 broad.mit.edu 37 19 41383245 41383245 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:41383245C>G uc002opm.2 - 7 1553 c.1011G>C c.(1009-1011)AAG>AAC p.K337N CYP2A7_uc002opo.2_Missense_Mutation_p.K337N|CYP2A7_uc002opn.2_Missense_Mutation_p.K286N NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 337 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GCTGCCGGTTCTTGCCGATCA 0.532 NA 6 59 0 0 0.004482 0 0 ZNF526 116115 broad.mit.edu 37 19 42729969 42729969 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:42729969C>T uc002osz.1 + 3 1570 c.1414C>T c.(1414-1416)CAC>TAC p.H472Y NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 472 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) TGAACGGCGTCACCGCTGTGG 0.652 NA 12 107 0 0 0.00245 0 0 MEGF8 1954 broad.mit.edu 37 19 42853690 42853690 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:42853690A>C uc002otl.3 + 13 2772 c.2137A>C c.(2137-2139)ACG>CCG p.T713P MEGF8_uc002otm.3_Missense_Mutation_p.T321P NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 780 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGAGAAGGAGACGCGGCGGCT 0.647 NA 5 27 0 0 0.001168 0 0 ZNF841 284371 broad.mit.edu 37 19 52568907 52568907 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:52568907C>A uc002pyl.1 - 5 2432 c.1880G>T c.(1879-1881)GGG>GTG p.G627V ZNF841_uc010ydh.1_Missense_Mutation_p.G743V|ZNF841_uc010epk.1_Intron NM_001136499 NP_001129971 Q6ZN19 ZN841_HUMAN zinc finger protein 841 627 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGACTTTCCCACATTCAAT 0.393 NA 7 12 8.12818e-05 9.4384e-05 0.001984 1 0 C19orf51 352909 broad.mit.edu 37 19 55670627 55670627 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:55670627C>G uc002qji.1 - 12 1463 c.1429G>C c.(1429-1431)GAC>CAC p.D477H TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.D292H|C19orf51_uc002qjj.1_Missense_Mutation_p.D524H|C19orf51_uc002qjk.1_Missense_Mutation_p.D423H|C19orf51_uc002qjl.1_Missense_Mutation_p.D544H Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 477 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GCCAGGATGTCAAGGGGCGGA 0.647 NA 5 31 0 0 0.001168 0 0 U2AF2 11338 broad.mit.edu 37 19 56180086 56180086 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:56180086C>G uc002qlu.2 + 9 1928 c.873C>G c.(871-873)GTC>GTG p.V291V U2AF2_uc002qlt.2_Silent_p.V291V NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 291 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCAACCTGGTCAAGGACAGTG 0.632 NA 9 65 0 0 0.008291 0 0 MBOAT2 129642 broad.mit.edu 37 2 9008594 9008594 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:9008594C>G uc002qzg.1 - 9 1102 c.969G>C c.(967-969)TTG>TTC p.L323F MBOAT2_uc010yix.1_Missense_Mutation_p.L323F NM_138799 NP_620154 Q6ZWT7 MBOA2_HUMAN O-acyltransferase (membrane bound) domain 323 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTTGAATTCTCAAATTGGAAA 0.363 Ovarian(194;1699 3813 22401) NA 8 58 0 0 0.00308 0 0 TP53I3 9540 broad.mit.edu 37 2 24305854 24305854 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:24305854C>T uc002rey.1 - 3 367 c.307G>A c.(307-309)GAA>AAA p.E103K LOC375190_uc002rew.2_Intron|TP53I3_uc002rex.1_Missense_Mutation_p.E103K|TP53I3_uc002rez.1_Missense_Mutation_p.E103K|TP53I3_uc010ykk.1_Intron NM_147184 NP_671713 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 103 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGCCCTTCGGGGACAGTG 0.652 NA 4 41 0 0 0.009096 0 0 ASXL2 55252 broad.mit.edu 37 2 25966745 25966745 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:25966745G>A uc002rgs.2 - 12 2682 c.2461C>T c.(2461-2463)CCA>TCA p.P821S ASXL2_uc002rgt.1_Missense_Mutation_p.P561S NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCCTTGTGGATGGCTGACA 0.522 NA 16 199 0 0 0.004007 0 0 CAPN13 92291 broad.mit.edu 37 2 30966341 30966341 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:30966341C>A uc002rnn.2 - 12 1529 c.1353G>T c.(1351-1353)CTG>CTT p.L451L CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_Silent_p.L5L NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 451 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCCCAGGGCTCAGATGGTAAG 0.463 NA 27 168 7.92952e-12 1.07853e-11 0.003954 1 0 THUMPD2 80745 broad.mit.edu 37 2 39963894 39963894 + Missense_Mutation SNP G G A rs145653260 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:39963894G>A uc002rru.2 - 10 1530 c.1493C>T c.(1492-1494)TCG>TTG p.S498L THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.S389L NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 498 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) AGAAGAGTGCGACTTCTTATA 0.448 NA 4 36 0 0 0.009096 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655756 40655756 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:40655756G>T uc002rrx.2 - 1 1689 c.1665C>A c.(1663-1665)ATC>ATA p.I555I SLC8A1_uc002rry.2_Silent_p.I555I|SLC8A1_uc002rrz.2_Silent_p.I555I|SLC8A1_uc002rsa.2_Silent_p.I555I|SLC8A1_uc002rsd.3_Silent_p.I555I|SLC8A1_uc002rsb.1_Silent_p.I555I|SLC8A1_uc010fan.1_Silent_p.I555I|SLC8A1_uc002rsc.1_Silent_p.I555I NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 555 Calx-beta 2.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCACCTCCATGATGCCAATGC 0.458 NA 9 97 2.17888e-05 2.592e-05 0.006214 1 0 ASB3 51130 broad.mit.edu 37 2 53977961 53977961 + Missense_Mutation SNP G G C rs139014010 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:53977961G>C uc002rxg.1 - 3 449 c.314C>G c.(313-315)CCT>CGT p.P105R ASB3_uc002rxh.1_Missense_Mutation_p.P32R|ASB3_uc002rxi.3_Missense_Mutation_p.P143R|ASB3_uc010yoo.1_Missense_Mutation_p.P105R NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 105 ANK 3. intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGTTGCATTAGGATCTGCCCC 0.353 NA 9 45 0 0 0.006214 0 0 ANTXR1 84168 broad.mit.edu 37 2 69472433 69472433 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:69472433C>G uc002sfg.2 + 18 1867 c.1511C>G c.(1510-1512)TCC>TGC p.S504C NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 504 Cytoplasmic (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 TACCACAcctcctcgccgcct 0.249 NA Familial_Infantile_Hemangioma 3 53 0 0 0.009096 0 0 MARCO 8685 broad.mit.edu 37 2 119727727 119727727 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:119727727G>T uc002tln.1 + 3 369 c.237G>T c.(235-237)ATG>ATT p.M79I MARCO_uc010yyf.1_Missense_Mutation_p.M1I NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 79 Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 TCCTGGAGATGTATTTCCTCA 0.577 GBM(8;18 374 7467 11269 32796) NA 13 78 6.31663e-08 8.05629e-08 0.003163 1 0 POTEF 728378 broad.mit.edu 37 2 130877990 130877990 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:130877990G>A uc010fmh.2 - 3 499 c.99C>T c.(97-99)CCC>CCT p.P33P NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 33 cell cortex ATP binding skin(3)|ovary(2) 5 CCCTGCAGCAGGGGAAGCAAC 0.577 NA 26 246 0 0 0.00632 0 0 GPR148 344561 broad.mit.edu 37 2 131487352 131487352 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:131487352C>A uc002trv.1 + 1 630 c.628C>A c.(628-630)CAG>AAG p.Q210K NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 210 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) CATGGGCACCCAGCCGGGATG 0.542 NA 14 90 3.27435e-08 4.21763e-08 0.00245 1 0 LCT 3938 broad.mit.edu 37 2 136547323 136547323 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:136547323G>A uc002tuu.1 - 16 5392 c.5381C>T c.(5380-5382)GCG>GTG p.A1794V NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1794 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ATTGTCCATCGCACTCCAAAC 0.483 NA 13 128 0 0 0.001368 0 0 LRP1B 53353 broad.mit.edu 37 2 141680547 141680548 + Nonsense_Mutation DNP GG GG TT TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:141680547_141680548GG>TT uc002tvj.1 - 21 4277_4278 c.3305_3306CC>AA c.(3304-3306)TCC>TAA p.S1102* LRP1B_uc010fnl.1_Nonsense_Mutation_p.S284* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1102 Extracellular (Potential).|LDL-receptor class A 9. 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) TACTCCAACAGGAAAACTTGGT 0.441 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 7 41 0 0 0.004672 0 0 FIGN 55137 broad.mit.edu 37 2 164468312 164468312 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:164468312C>G uc002uck.1 - 3 341 c.30G>C c.(28-30)TTG>TTC p.L10F NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 10 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 ACTGCATCTTCAAGCCTAAGA 0.443 NA 3 42 0 0 0.004672 0 0 SCN3A 6328 broad.mit.edu 37 2 165947170 165947170 + Missense_Mutation SNP T T A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:165947170T>A uc002ucx.2 - 28 5985 c.5493A>T c.(5491-5493)AAA>AAT p.K1831N SCN3A_uc010zcy.1_Missense_Mutation_p.K314N|SCN3A_uc002ucy.2_Missense_Mutation_p.K1782N|SCN3A_uc002ucz.2_Missense_Mutation_p.K1782N NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1831 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TAAGCTGGACTTTGTTGGGTT 0.453 NA 9 99 0 0 0.008291 0 0 LRP2 4036 broad.mit.edu 37 2 170042448 170042448 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:170042448C>G uc002ues.2 - 50 9623 c.9410G>C c.(9409-9411)TGT>TCT p.C3137S NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3137 EGF-like 11.|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) ACCAGGACGACAGGAACAATA 0.438 NA 7 66 0 0 0.001984 0 0 ATF2 1386 broad.mit.edu 37 2 175957959 175957959 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:175957959T>C uc002ujl.2 - 12 1277 c.1015A>G c.(1015-1017)ACA>GCA p.T339A ATF2_uc010fqv.2_Missense_Mutation_p.T290A|ATF2_uc002ujv.2_Missense_Mutation_p.T86A|ATF2_uc002ujm.2_Missense_Mutation_p.T281A|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.T339A|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.T321A|ATF2_uc002ujs.2_Missense_Mutation_p.T281A|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.T281A|ATF2_uc002ujx.1_RNA NM_001880 NP_001871 P15336 ATF2_HUMAN activating transcription factor 2 339 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(1)|breast(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.125) CGACCACTTGTACTTTGGGTC 0.413 Pancreas(17;87 705 4534 15538 30988) NA 4 32 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179591958 179591958 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:179591958C>T uc010zfg.1 - 66 16626 c.16402G>A c.(16402-16404)GAT>AAT p.D5468N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2129N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6395 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) CTGTACTTATCACTGGCTGGA 0.443 NA 7 52 0 0 0.00308 0 0 DNAH7 56171 broad.mit.edu 37 2 196740445 196740445 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:196740445C>A uc002utj.3 - 38 6341 c.6240G>T c.(6238-6240)ATG>ATT p.M2080I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2080 AAA 3 (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 CTAGTTTAATCATGGAACAAT 0.418 NA 9 32 3.09899e-07 3.90131e-07 0.004482 1 0 PLCL1 5334 broad.mit.edu 37 2 198950567 198950567 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:198950567C>G uc010fsp.2 + 2 2617 c.2326C>G c.(2326-2328)CCT>GCT p.P776A PLCL1_uc002uuv.3_Missense_Mutation_p.P697A NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 776 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CAGTGATAATCCTATTTTTGA 0.393 NA 6 61 0 0 0.001168 0 0 TTLL4 9654 broad.mit.edu 37 2 219602948 219602948 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:219602948C>G uc002viy.2 + 3 919 c.549C>G c.(547-549)CTC>CTG p.L183L TTLL4_uc010zkl.1_Silent_p.L18L|TTLL4_uc010fvx.2_Silent_p.L183L NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 183 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AACCATACCTCTGCTTGGCAG 0.567 GBM(172;1818 2053 15407 20943 49753) NA 6 113 0 0 0.001168 0 0 NGEF 25791 broad.mit.edu 37 2 233745891 233745891 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:233745891G>T uc002vts.2 - 14 2155 c.1907C>A c.(1906-1908)GCC>GAC p.A636D NGEF_uc010zmm.1_Missense_Mutation_p.A359D|NGEF_uc010fyg.1_Missense_Mutation_p.A544D NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 636 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GAGGATGTCGGCGAGCTCCAG 0.662 NA 13 73 2.61681e-11 3.52229e-11 0.00245 1 0 UGT1A5 54579 broad.mit.edu 37 2 234622209 234622209 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:234622209C>G uc002vuw.2 + 1 572 c.572C>G c.(571-573)TCC>TGC p.S191C UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.S191C NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 191 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CCAAACCCTTCCTCCTATATT 0.478 NA 14 201 0 0 0.001855 0 0 CSNK2A1 1457 broad.mit.edu 37 20 485802 485802 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:485802T>C uc002wdw.1 - 4 566 c.173A>G c.(172-174)AAC>AGC p.N58S CSNK2A1_uc002wdx.1_Missense_Mutation_p.N58S|CSNK2A1_uc002wdy.1_5'UTR NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 58 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATTTGTGATGTTGATGGCTTC 0.313 NA 5 28 0 0 0.001168 0 0 PTPRA 5786 broad.mit.edu 37 20 3005234 3005234 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:3005234G>A uc010zqd.1 + 16 1931 c.1614G>A c.(1612-1614)GGG>GGA p.G538G PTPRA_uc002whj.2_Silent_p.G527G|PTPRA_uc002whk.2_Silent_p.G518G|PTPRA_uc002whl.2_Silent_p.G518G|PTPRA_uc002whm.2_Silent_p.G294G|PTPRA_uc002whn.2_Silent_p.G518G|PTPRA_uc002who.2_Silent_p.G190G NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 527 Cytoplasmic (Potential). axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 AAATCCCAGGGACCAGCAACA 0.453 NA 7 121 0 0 0.001984 0 0 HSPA12B 116835 broad.mit.edu 37 20 3725682 3725682 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:3725682G>C uc002wjd.2 + 5 503 c.400G>C c.(400-402)GCG>CCG p.A134P HSPA12B_uc010zqi.1_Missense_Mutation_p.A134P|HSPA12B_uc002wje.2_Missense_Mutation_p.A47P|HSPA12B_uc010zqj.1_5'UTR NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 134 ATP binding 0 CCCCGAAGAGGCGCGGGACTG 0.622 NA 21 203 0 0 0.012319 0 0 PAK7 57144 broad.mit.edu 37 20 9561232 9561232 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:9561232C>T uc002wnl.2 - 5 1095 c.550G>A c.(550-552)GAG>AAG p.E184K PAK7_uc002wnk.2_Missense_Mutation_p.E184K|PAK7_uc002wnj.2_Missense_Mutation_p.E184K|PAK7_uc010gby.1_Missense_Mutation_p.E184K NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 184 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GGCTTCACCTCAGAATAGTAG 0.458 NA 12 117 0 0 0.001368 0 0 CD93 22918 broad.mit.edu 37 20 23066051 23066051 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:23066051G>A uc002wsv.2 - 1 927 c.779C>T c.(778-780)CCC>CTC p.P260L NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 260 EGF-like 1.|Extracellular (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCCATACTTGGGGCTGACACA 0.602 NA 14 172 0 0 0.00245 0 0 EIF6 3692 broad.mit.edu 37 20 33867900 33867900 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:33867900C>G uc002xbv.1 - 4 607 c.391G>C c.(391-393)GAT>CAT p.D131H EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.D131H|EIF6_uc002xbz.1_Missense_Mutation_p.D112H|EIF6_uc002xby.1_RNA NM_181468 NP_852133 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 131 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) TTGAGCACATCTGCCAGAATT 0.507 NA 6 172 0 0 0.00308 0 0 EIF6 3692 broad.mit.edu 37 20 33867912 33867912 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:33867912C>T uc002xbv.1 - 4 595 c.379G>A c.(379-381)GAA>AAA p.E127K EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.E127K|EIF6_uc002xbz.1_Missense_Mutation_p.E108K|EIF6_uc002xby.1_RNA NM_181468 NP_852133 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 127 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCCAGAATTTCTTCTGTCTCC 0.517 NA 6 156 0 0 0.001168 0 0 CPNE1 8904 broad.mit.edu 37 20 34214539 34214539 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:34214539C>G uc002xdf.2 - 17 1786 c.1423G>C c.(1423-1425)GCT>CCT p.A475P CPNE1_uc002xdc.2_Missense_Mutation_p.A137P|CPNE1_uc010zvj.1_Missense_Mutation_p.A480P|CPNE1_uc002xde.2_Missense_Mutation_p.A451P|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.A475P|CPNE1_uc002xdi.2_Missense_Mutation_p.A475P|CPNE1_uc002xdj.2_Missense_Mutation_p.A475P|CPNE1_uc002xdk.2_Missense_Mutation_p.A475P|CPNE1_uc002xdl.2_Missense_Mutation_p.A475P|CPNE1_uc002xdm.2_Missense_Mutation_p.A475P NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 475 VWFA. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CGGGCAGCAGCCTGCCCAGAA 0.557 NA 4 137 0 0 0.009096 0 0 CHD6 84181 broad.mit.edu 37 20 40054752 40054752 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:40054752C>A uc002xka.1 - 28 4288 c.4110G>T c.(4108-4110)AAG>AAT p.K1370N NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1370 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) TGTCATCCTTCTTTTCGCTAA 0.423 NA 7 179 5.18039e-06 6.31715e-06 0.00308 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47582495 47582495 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:47582495G>C uc002xtx.3 + 8 1146 c.994G>C c.(994-996)GAT>CAT p.D332H NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 332 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) CCCAGGAGTTGATGAAAACTC 0.483 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 5 29 0 0 0.000602 0 0 DIDO1 11083 broad.mit.edu 37 20 61512816 61512816 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:61512816C>G uc002ydr.1 - 16 4756 c.4492G>C c.(4492-4494)GAA>CAA p.E1498Q DIDO1_uc002yds.1_Missense_Mutation_p.E1498Q NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1498 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTGAGAGCTTCTTCTTGCTCC 0.607 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 4 124 0 0 0.000602 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691969 31691969 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr21:31691969G>T uc002ynw.2 - 1 639 c.385C>A c.(385-387)CTC>ATC p.L129I NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 129 intermediate filament ovary(1) 1 TAACTATTGAGCAGCGGCCTC 0.537 NA 29 156 1.39806e-14 1.93539e-14 0.008361 1 0 SOD1 6647 broad.mit.edu 37 21 33036154 33036154 + Missense_Mutation SNP G G T rs121912433 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr21:33036154G>T uc002ypa.2 + 2 272 c.124G>T c.(124-126)GGC>TGC p.G42C SOD1_uc002ypb.2_Missense_Mutation_p.G23C|SOD1_uc002ypc.2_RNA NM_000454 NP_000445 P00441 SODC_HUMAN superoxide dismutase 1, soluble 42 G -> D (in ALS1).|G -> S (in ALS1). activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding 0 ACTGACTGAAGGCCTGCATGG 0.433 NA 15 80 2.48551e-13 3.40444e-13 0.00499 1 0 PFKL 5211 broad.mit.edu 37 21 45741720 45741720 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr21:45741720G>T uc002zel.2 + 13 1359 c.1300G>T c.(1300-1302)GTG>TTG p.V434L PFKL_uc002zek.2_Missense_Mutation_p.V481L|PFKL_uc002zem.2_Missense_Mutation_p.V21L|PFKL_uc002zen.2_Missense_Mutation_p.V21L NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 434 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) CACAGTATACGTGGTGCACGA 0.647 NA 19 85 5.03518e-11 6.75409e-11 0.007413 1 0 TCF20 6942 broad.mit.edu 37 22 42605678 42605678 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr22:42605678C>A uc003bcj.1 - 1 5768 c.5634G>T c.(5632-5634)GCG>GCT p.A1878A TCF20_uc003bck.1_Silent_p.A1878A|TCF20_uc003bnt.2_Silent_p.A1878A NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1878 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CTATTTCCAGCGCTTCCTGCA 0.433 NA 5 116 3.59834e-05 4.24167e-05 0.001168 1 0 EFCAB6 64800 broad.mit.edu 37 22 44178131 44178131 + Nonsense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr22:44178131G>C uc003bdy.1 - 3 283 c.68C>G c.(67-69)TCA>TGA p.S23* EFCAB6_uc003bdz.1_Intron|EFCAB6_uc010gzi.1_5'UTR|EFCAB6_uc011aqa.1_5'UTR|EFCAB6_uc003bea.1_Nonsense_Mutation_p.S20*|EFCAB6_uc003beb.3_5'UTR NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATGGGGTCTTGAATGTGTAAA 0.373 NA 4 57 0 0 0.009096 0 0 FGD5 152273 broad.mit.edu 37 3 14862303 14862303 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:14862303G>A uc003bzc.2 + 1 1835 c.1725G>A c.(1723-1725)AGG>AGA p.R575R FGD5_uc011avk.1_Silent_p.R575R NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 575 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 ATGACCACAGGATAAAGAGGA 0.557 NA 4 36 0 0 0.009096 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54905639 54905639 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:54905639G>A uc003dhf.2 + 18 1748 c.1700G>A c.(1699-1701)CGA>CAA p.R567Q CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R473Q|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R301Q NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 567 Extracellular (Potential). 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) TGGGAAGACCGAGATGACGTG 0.493 NA 4 47 0 0 0.001168 0 0 FAM19A1 407738 broad.mit.edu 37 3 68587954 68587954 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:68587954G>C uc003dnd.2 + 4 523 c.307G>C c.(307-309)GAA>CAA p.E103Q FAM19A1_uc003dne.2_Missense_Mutation_p.E103Q|FAM19A1_uc003dng.2_Missense_Mutation_p.E103Q NM_213609 NP_998774 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine 103 endoplasmic reticulum|extracellular region ovary(1) 1 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GCCTTGCCTAGAAGGAGAAGA 0.438 NA 7 48 0 0 0.00308 0 0 EPHA3 2042 broad.mit.edu 37 3 89259011 89259011 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:89259011G>A uc003dqy.2 + 3 380 c.155G>A c.(154-156)TGG>TAG p.W52* EPHA3_uc003dqx.1_Nonsense_Mutation_p.W52*|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 52 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATTCTTCAGTGGGAAGAGATC 0.398 NA TSP Lung(6;0.00050) 6 18 0 0 0.001168 0 0 EPHA3 2042 broad.mit.edu 37 3 89521758 89521758 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:89521758G>C uc003dqy.2 + 16 3060 c.2835G>C c.(2833-2835)AAG>AAC p.K945N EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 945 Cytoplasmic (Potential).|SAM. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAATAGCCAAGATTTCCACAG 0.408 NA TSP Lung(6;0.00050) 6 66 0 0 0.001168 0 0 SEMA5B 54437 broad.mit.edu 37 3 122632712 122632712 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:122632712C>T uc003efz.1 - 15 2429 c.2125G>A c.(2125-2127)GAG>AAG p.E709K SEMA5B_uc011bju.1_Missense_Mutation_p.E651K|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E709K|SEMA5B_uc010hro.1_Missense_Mutation_p.E651K|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 709 Extracellular (Potential).|TSP type-1 1. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CACCGTTCCTCCCGGCTCTTG 0.662 NA 8 95 0 0 0.008291 0 0 CCDC37 348807 broad.mit.edu 37 3 126138534 126138534 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:126138534C>G uc003eiu.1 + 9 885 c.786C>G c.(784-786)TTC>TTG p.F262L CCDC37_uc010hsg.1_Missense_Mutation_p.F263L NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 262 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) ATAAGGATTTCCTATACAAGC 0.502 NA 4 84 0 0 0.000602 0 0 MGLL 11343 broad.mit.edu 37 3 127439934 127439934 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:127439934G>A uc003ejx.2 - 5 587 c.442C>T c.(442-444)CTG>TTG p.L148L MGLL_uc003ejw.2_Silent_p.L158L|MGLL_uc011bko.1_Silent_p.L158L|MGLL_uc010hsp.1_Silent_p.L148L|MGLL_uc003ejv.2_Silent_p.L122L NM_001003794 NP_001003794 Q99685 MGLL_HUMAN monoglyceride lipase isoform 2 148 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity 0 GCAAGAACCAGAGGCGAAATG 0.552 NA 6 48 0 0 0.001984 0 0 RUVBL1 8607 broad.mit.edu 37 3 127817729 127817729 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:127817729G>C uc003ekh.2 - 7 917 c.813C>G c.(811-813)ATC>ATG p.I271M RUVBL1_uc003eke.2_Missense_Mutation_p.I12M|RUVBL1_uc003ekf.2_Missense_Mutation_p.I211M|RUVBL1_uc010hss.2_Missense_Mutation_p.I271M NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 271 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) TCCTACCTGTGATTTCTGTCT 0.547 NA 3 65 0 0 0.004672 0 0 IFT122 55764 broad.mit.edu 37 3 129211017 129211017 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:129211017G>C uc003emm.2 + 17 2232 c.2026G>C c.(2026-2028)GAG>CAG p.E676Q IFT122_uc003eml.2_Missense_Mutation_p.E727Q|IFT122_uc003emn.2_Missense_Mutation_p.E617Q|IFT122_uc003emo.2_Missense_Mutation_p.E565Q|IFT122_uc003emp.2_Missense_Mutation_p.E526Q|IFT122_uc010htc.2_Missense_Mutation_p.E668Q|IFT122_uc011bky.1_Missense_Mutation_p.E467Q|IFT122_uc003emq.2_Missense_Mutation_p.E516Q|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Missense_Mutation_p.E56Q|IFT122_uc003ems.2_Intron|IFT122_uc011bkx.1_Missense_Mutation_p.E516Q|IFT122_uc010htd.1_Missense_Mutation_p.E155Q NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 676 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 CCGATATTTAGAGCTCATCAG 0.438 NA 9 135 0 0 0.006214 0 0 CPNE4 131034 broad.mit.edu 37 3 131388587 131388587 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:131388587G>A uc003eok.2 - 7 1048 c.613C>T c.(613-615)CCA>TCA p.P205S CPNE4_uc011blq.1_Missense_Mutation_p.P223S|CPNE4_uc003eol.2_Missense_Mutation_p.P223S|CPNE4_uc003eom.2_Missense_Mutation_p.P205S NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 205 C2 2. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TTCCAGGCTGGGCTTAAGTTA 0.428 NA 6 80 0 0 0.001168 0 0 MRPS22 56945 broad.mit.edu 37 3 139065737 139065737 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:139065737G>C uc003etb.2 + 2 198 c.190G>C c.(190-192)GAG>CAG p.E64Q MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.E63Q|MRPS22_uc003ete.2_Missense_Mutation_p.E23Q NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 64 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 TGGTAGCCCAGAGACCAAGAA 0.363 NA 4 44 0 0 0.009096 0 0 SI 6476 broad.mit.edu 37 3 164757724 164757724 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:164757724G>C uc003fei.2 - 19 2257 c.2195C>G c.(2194-2196)ACT>AGT p.T732S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 732 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAAAAACTCAGTGTCCTCAAT 0.333 NA HNSCC(35;0.089) 7 102 0 0 0.001984 0 0 SI 6476 broad.mit.edu 37 3 164786563 164786563 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:164786563T>G uc003fei.2 - 5 492 c.430A>C c.(430-432)AAC>CAC p.N144H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 144 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGAACACTGTTGATGTCATTT 0.343 NA HNSCC(35;0.089) 3 63 0 0 0.009096 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916873 178916873 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:178916873G>C uc003fjk.2 + 2 417 c.260G>C c.(259-261)AGA>ACA p.R87T NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 87 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GATGAAACAAGACGACTTTGT 0.363 Colon(199;1504 1750 3362 26421 31210 32040) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 4 63 0 0 0.009096 0 0 ATP13A5 344905 broad.mit.edu 37 3 193068888 193068888 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:193068888A>T uc011bsq.1 - 7 709 c.709T>A c.(709-711)TCC>ACC p.S237T NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 237 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAGACAATGGAGATAACAGTC 0.388 NA 5 22 0 0 0.000602 0 0 MUC4 4585 broad.mit.edu 37 3 195516290 195516290 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195516290C>G uc011bto.1 - 2 2621 c.2161G>C c.(2161-2163)GAT>CAT p.D721H MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.D603H NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 726 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGGTGGCATCATGGCTGCTG 0.612 NA 7 142 0 0 0.00308 0 0 MUC4 4585 broad.mit.edu 37 3 195516684 195516684 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195516684C>T uc011bto.1 - 2 2227 c.1767G>A c.(1765-1767)ATG>ATA p.M589I MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.M471I NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 594 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCGTTTTTATCATCTGAGTCA 0.478 NA 24 338 0 0 0.004656 0 0 MUC4 4585 broad.mit.edu 37 3 195516687 195516687 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195516687C>T uc011bto.1 - 2 2224 c.1764G>A c.(1762-1764)CAG>CAA p.Q588Q MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.Q470Q NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 593 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TTTTTATCATCTGAGTCACAC 0.488 NA 25 335 0 0 0.005443 0 0 MUC4 4585 broad.mit.edu 37 3 195518150 195518150 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195518150G>C uc011bto.1 - 2 761 c.301C>G c.(301-303)CTT>GTT p.L101V MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_5'Flank NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 101 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAAGAAAAAAGAGTTGATGTC 0.478 NA 7 75 0 0 0.001984 0 0 MUC4 4585 broad.mit.edu 37 3 195518254 195518254 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195518254G>C uc011bto.1 - 2 657 c.197C>G c.(196-198)TCT>TGT p.S66C MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_5'Flank NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 66 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCCTGATTAGAGGTCCTTGA 0.483 NA 6 153 0 0 0.001168 0 0 LRRC33 375387 broad.mit.edu 37 3 196388383 196388383 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:196388383C>G uc003fwv.2 + 3 1973 c.1869C>G c.(1867-1869)CTC>CTG p.L623L NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 623 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CCTGCAACCTCTCCTCCAAGA 0.647 NA 5 128 0 0 0.001168 0 0 DLG1 1739 broad.mit.edu 37 3 196831852 196831852 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:196831852C>A uc003fxo.3 - 15 1757 c.1567G>T c.(1567-1569)GCT>TCT p.A523S DLG1_uc011bub.1_Missense_Mutation_p.A407S|DLG1_uc011buc.1_Missense_Mutation_p.A407S|DLG1_uc011bud.1_Missense_Mutation_p.A206S|DLG1_uc003fxn.3_Missense_Mutation_p.A523S|DLG1_uc011bue.1_Missense_Mutation_p.A490S|DLG1_uc010ial.2_Missense_Mutation_p.A523S|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.A490S NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 523 PDZ 3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCATGACTAGCAGCTCTGAGG 0.388 NA 4 47 0.00909568 0.00980116 0.009096 1 0 SLC2A9 56606 broad.mit.edu 37 4 9982333 9982333 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:9982333G>T uc003gmc.2 - 5 625 c.564C>A c.(562-564)TAC>TAA p.Y188* SLC2A9_uc003gmd.2_Nonsense_Mutation_p.Y159* NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 188 Helical; Name=4; (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 TCTCACTAAGGTACATGGGGA 0.567 NA 8 31 4.68919e-08 6.00031e-08 0.008291 1 0 ZNF518B 85460 broad.mit.edu 37 4 10447569 10447569 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:10447569C>G uc003gmn.2 - 3 871 c.384G>C c.(382-384)AGG>AGC p.R128S NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 GCTTAAAGTTCCTTACCTTAA 0.373 NA 7 86 0 0 0.001984 0 0 BOD1L 259282 broad.mit.edu 37 4 13606644 13606644 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:13606644G>C uc003gmz.1 - 10 1997 c.1880C>G c.(1879-1881)CCA>CGA p.P627R BOD1L_uc010idr.1_5'UTR NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 627 Lys-rich. DNA binding ovary(5)|breast(1) 6 AGGTTTACTTGGTTCACTTTT 0.353 NA 7 51 0 0 0.001984 0 0 SLIT2 9353 broad.mit.edu 37 4 20525659 20525659 + Missense_Mutation SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:20525659A>G uc003gpr.1 + 14 1501 c.1297A>G c.(1297-1299)ATT>GTT p.I433V SLIT2_uc003gps.1_Missense_Mutation_p.I433V NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 433 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GAACCCCTTTATTTGTGACTG 0.488 NA 6 146 0 0 0.00308 0 0 THAP9 79725 broad.mit.edu 37 4 83838125 83838125 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:83838125G>A uc003hnt.2 + 5 879 c.760G>A c.(760-762)GGT>AGT p.G254S THAP9_uc003hns.1_Missense_Mutation_p.G110S|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_5'UTR NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 254 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) ACCCAGTCCAGGTTTCAACAG 0.348 NA 7 74 0 0 0.001984 0 0 WDFY3 23001 broad.mit.edu 37 4 85731329 85731329 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:85731329G>A uc003hpd.2 - 14 2464 c.2056C>T c.(2056-2058)CAC>TAC p.H686Y WDFY3_uc003hpf.2_Missense_Mutation_p.H686Y NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 686 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AACACAGTGTGAAGAAGTTCA 0.448 NA 9 63 0 0 0.006214 0 0 CENPE 1062 broad.mit.edu 37 4 104084360 104084360 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:104084360C>T uc003hxb.1 - 18 1866 c.1776G>A c.(1774-1776)AAG>AAA p.K592K CENPE_uc003hxc.1_Silent_p.K567K NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 592 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CCTGTAGCTTCTTAATCTGGT 0.328 NA 6 20 0 0 0.001168 0 0 ANK2 287 broad.mit.edu 37 4 114274912 114274912 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:114274912A>T uc003ibe.3 + 38 5238 c.5138A>T c.(5137-5139)AAA>ATA p.K1713I ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.K1728I NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1680 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) GAAAAGCAGAAACAAAAAGAG 0.403 NA 8 114 0 0 0.004482 0 0 FAT4 79633 broad.mit.edu 37 4 126240995 126240995 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:126240995G>C uc003ifj.3 + 1 3429 c.3429G>C c.(3427-3429)CAG>CAC p.Q1143H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1143 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AAATGGTGCAGCCAGATTTTG 0.453 NA 6 113 0 0 0.001168 0 0 ELF2 1998 broad.mit.edu 37 4 139983041 139983041 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:139983041C>T uc003ihp.1 - 7 954 c.748G>A c.(748-750)GAA>AAA p.E250K ELF2_uc003ihm.1_Missense_Mutation_p.E202K|ELF2_uc003ihn.1_Missense_Mutation_p.E190K|ELF2_uc003iho.1_Missense_Mutation_p.E173K|ELF2_uc011chc.1_Missense_Mutation_p.E65K NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 262 ETS. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) CCCATGGTTTCATAGTTCATG 0.358 NA 6 46 0 0 0.001984 0 0 CLCN3 1182 broad.mit.edu 37 4 170613428 170613428 + Missense_Mutation SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:170613428A>G uc003isi.2 + 7 1402 c.893A>G c.(892-894)TAC>TGC p.Y298C CLCN3_uc003ish.2_Missense_Mutation_p.Y298C|CLCN3_uc011cjz.1_Missense_Mutation_p.Y281C|CLCN3_uc011cka.1_Missense_Mutation_p.Y298C|CLCN3_uc003isj.1_Missense_Mutation_p.Y271C NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 298 Helical; (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) ATCTTTTCCTACCTCTTTCCA 0.353 NA 8 107 0 0 0.00308 0 0 TRIML1 339976 broad.mit.edu 37 4 189068192 189068192 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:189068192G>T uc003izm.1 + 6 1188 c.1073G>T c.(1072-1074)TGC>TTC p.C358F TRIML1_uc003izn.1_Missense_Mutation_p.C82F NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 358 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GTGGGCATCTGCAAGGACTCT 0.537 Melanoma(31;213 1036 16579 23968 32372) NA 9 66 0.000274275 0.000311968 0.004482 1 0 TRIP13 9319 broad.mit.edu 37 5 908512 908512 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:908512A>T uc003jbr.2 + 9 912 c.802A>T c.(802-804)ACC>TCC p.T268S TRIP13_uc010ite.1_Missense_Mutation_p.T268S NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 268 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CAGGGCGGGCACCGAGCCATC 0.557 NA 8 59 0 0 0.00308 0 0 PRDM9 56979 broad.mit.edu 37 5 23526991 23526991 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:23526991C>A uc003jgo.2 + 11 1976 c.1794C>A c.(1792-1794)CAC>CAA p.H598Q NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 598 C2H2-type 4. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TCCTCACTCACCAGAGGACAC 0.597 NA HNSCC(3;0.000094) 11 104 3.52763e-06 4.31525e-06 0.00499 1 0 CDH10 1008 broad.mit.edu 37 5 24498546 24498546 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:24498546G>T uc003jgr.1 - 9 1808 c.1476C>A c.(1474-1476)TTC>TTA p.F492L CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 492 Cadherin 5.|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) AAGTGTCATAGAACACAGCAA 0.398 NA HNSCC(23;0.051) 8 39 3.09899e-07 3.90131e-07 0.004482 1 0 PDZD2 23037 broad.mit.edu 37 5 32010523 32010523 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:32010523G>A uc003jhl.2 + 6 1730 c.1342G>A c.(1342-1344)GAT>AAT p.D448N PDZD2_uc003jhm.2_Missense_Mutation_p.D448N|PDZD2_uc011cnx.1_Missense_Mutation_p.D274N NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 448 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CTCCTGGACTGATAACGAAGA 0.532 NA 8 76 0 0 0.00308 0 0 DDX4 54514 broad.mit.edu 37 5 55083796 55083796 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:55083796G>A uc003jqg.3 + 15 1214 c.1140G>A c.(1138-1140)CAG>CAA p.Q380Q DDX4_uc010ivz.2_Silent_p.Q360Q|DDX4_uc003jqh.3_Silent_p.Q346Q|DDX4_uc003jqj.2_Silent_p.Q231Q NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 380 Helicase ATP-binding. Q -> K (in Ref. 5; AAH47455). multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGGTCAACCAGATTTATTTGG 0.373 NA 3 28 0 0 0.009096 0 0 CD180 4064 broad.mit.edu 37 5 66479858 66479858 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:66479858G>C uc003juy.2 - 3 961 c.813C>G c.(811-813)CTC>CTG p.L271L NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 271 Extracellular (Potential). inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity ovary(1) 1 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) ACATTTCACAGAGTCCCTTGA 0.463 NA 5 59 0 0 0.000602 0 0 BDP1 55814 broad.mit.edu 37 5 70805797 70805797 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:70805797A>T uc003kbp.1 + 17 3141 c.2878A>T c.(2878-2880)ACT>TCT p.T960S BDP1_uc003kbn.1_Missense_Mutation_p.T960S|BDP1_uc003kbo.2_Missense_Mutation_p.T960S NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 960 3.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TTTGAAAGCAACTGGAAATGA 0.428 NA 17 59 0 0 0.004007 0 0 SV2C 22987 broad.mit.edu 37 5 75427941 75427941 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:75427941G>C uc003kei.1 + 2 500 c.366G>C c.(364-366)GAG>GAC p.E122D NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 122 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ACCGGCGGGAGCTGGAATCAG 0.547 NA 8 52 0 0 0.004482 0 0 GPR98 84059 broad.mit.edu 37 5 89985761 89985761 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:89985761G>C uc003kju.2 + 30 6670 c.6574G>C c.(6574-6576)GAT>CAT p.D2192H GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2192 Extracellular (Potential).|Calx-beta 15. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTCATTAATGATATCTATCC 0.393 NA 5 20 0 0 0.000602 0 0 C5orf15 56951 broad.mit.edu 37 5 133295282 133295282 + Nonsense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:133295282G>C uc003kyo.2 - 2 700 c.569C>G c.(568-570)TCA>TGA p.S190* NM_020199 NP_064584 Q8NC54 KCT2_HUMAN keratinocytes associated transmembrane protein 2 190 Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TTCTATATTTGAGGATGGCAT 0.388 NA 7 50 0 0 0.001984 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432960 140432960 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140432960C>G uc003lik.1 + 1 1982 c.1905C>G c.(1903-1905)GAC>GAG p.D635E NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGAGAGAGACCCCATGATGC 0.428 NA 7 107 0 0 0.004482 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481446 140481446 + Missense_Mutation SNP T T A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140481446T>A uc003lio.2 + 1 1213 c.1213T>A c.(1213-1215)TCA>ACA p.S405T uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 405 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCCTAGTGTCAGAAGGCGC 0.468 NA 7 67 0 0 0.001984 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603915 140603915 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140603915A>T uc003ljb.2 + 1 838 c.838A>T c.(838-840)ACA>TCA p.T280S PCDHB14_uc011dal.1_Missense_Mutation_p.T127S NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 280 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATATCTTACACATTTTTCCA 0.408 Ovarian(141;50 1831 27899 33809 37648) NA 5 37 0 0 0.000602 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604343 140604343 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140604343C>A uc003ljb.2 + 1 1266 c.1266C>A c.(1264-1266)ACC>ACA p.T422T PCDHB14_uc011dal.1_Silent_p.T269T NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 422 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCACGATCACCGTCACAGACT 0.498 Ovarian(141;50 1831 27899 33809 37648) NA 10 141 0.00621372 0.00678971 0.006214 1 0 SLC25A2 83884 broad.mit.edu 37 5 140683204 140683204 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140683204C>T uc003ljf.2 - 1 409 c.229G>A c.(229-231)GAA>AAA p.E77K NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 77 Helical; Name=2; (Potential).|Solcar 1. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) ACCGAGTTTTCGGCGACGTAG 0.577 NA 15 84 0 0 0.00245 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710633 140710633 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140710633G>A uc003lji.1 + 1 382 c.382G>A c.(382-384)GAC>AAC p.D128N PCDHGA1_uc011dan.1_Missense_Mutation_p.D128N NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 128 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATATTAATGACAACACTCC 0.403 NA 24 130 0 0 0.003954 0 0 SPINK5 11005 broad.mit.edu 37 5 147473998 147473998 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:147473998G>C uc003lox.2 + 9 821 c.748G>C c.(748-750)GAC>CAC p.D250H SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.D222H|SPINK5_uc010jgr.2_Missense_Mutation_p.D231H|SPINK5_uc003low.2_Missense_Mutation_p.D250H|SPINK5_uc003loy.2_Missense_Mutation_p.D250H NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 250 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTGGCCCTGACGGCAGGAT 0.423 NA 4 94 0 0 0.000602 0 0 SH3TC2 79628 broad.mit.edu 37 5 148411177 148411177 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:148411177C>G uc003lpu.2 - 9 1227 c.1075G>C c.(1075-1077)GAG>CAG p.E359Q SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.E352Q|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E244Q NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 359 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAACACTCAGTCTGCTTA 0.537 NA 6 39 0 0 0.001168 0 0 ABLIM3 22885 broad.mit.edu 37 5 148632354 148632354 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:148632354G>A uc003lpy.2 + 23 2143 c.1892G>A c.(1891-1893)AGA>AAA p.R631K ABLIM3_uc003lpz.1_Missense_Mutation_p.R631K|ABLIM3_uc003lqa.1_Missense_Mutation_p.R528K|ABLIM3_uc003lqb.2_Missense_Mutation_p.R520K|ABLIM3_uc003lqc.1_Missense_Mutation_p.R598K|ABLIM3_uc003lqd.1_Missense_Mutation_p.R536K|ABLIM3_uc003lqf.2_Missense_Mutation_p.R520K|ABLIM3_uc003lqe.1_Missense_Mutation_p.R520K NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 631 HP. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACTACAAGAGGAAGAAAC 0.488 NA 5 75 0 0 0.000602 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025501 176025501 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:176025501C>A uc003meo.1 - 2 1510 c.1335G>T c.(1333-1335)GTG>GTT p.V445V NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 445 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGCCTTTCCCACAGACACAC 0.532 NA 11 97 0.00010058 0.0001161 0.001368 1 0 MAML1 9794 broad.mit.edu 37 5 179192956 179192956 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:179192956A>G uc003mkm.2 + 2 1208 c.945A>G c.(943-945)CCA>CCG p.P315P MAML1_uc003mkn.1_Silent_p.P315P NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 315 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGGCTCTCCACAAGTGAGGG 0.552 NA 4 64 0 0 0.009096 0 0 RIPK1 8737 broad.mit.edu 37 6 3081338 3081338 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:3081338C>T uc010jni.2 + 4 679 c.447C>T c.(445-447)GAC>GAT p.D149D RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Silent_p.D84D|RIPK1_uc011dhs.1_Intron|RIPK1_uc003mux.2_Silent_p.D149D NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 149 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) TTGATAATGACTTCCACATTA 0.378 NA 3 34 0 0 0.004672 0 0 KDM1B 221656 broad.mit.edu 37 6 18222215 18222215 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:18222215G>A uc003nco.1 + 15 1927 c.1852G>A c.(1852-1854)GCA>ACA p.A618T KDM1B_uc003ncn.1_Missense_Mutation_p.A589T|KDM1B_uc003ncp.1_Missense_Mutation_p.A174T|KDM1B_uc003ncq.1_Missense_Mutation_p.S172N NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 821 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 CAAGATTGCAGCATTTTAAGA 0.408 NA 5 51 0 0 0.000602 0 0 BTN2A2 10385 broad.mit.edu 37 6 26385379 26385379 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:26385379C>T uc003nhq.2 + 3 317 c.231C>T c.(229-231)CCC>CCT p.P77P BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Silent_p.P77P|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Silent_p.P77P|BTN2A2_uc003nht.2_Silent_p.P77P NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 77 Extracellular (Potential).|Ig-like V-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 AGTTCTCCCCCGCAGTGTTTG 0.532 NA 4 71 0 0 0.009096 0 0 OR2J3 442186 broad.mit.edu 37 6 29079946 29079946 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:29079946G>T uc011dll.1 + 1 279 c.279G>T c.(277-279)AAG>AAT p.K93N NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCCCGGAAAAGACCATCTCTT 0.478 NA 12 159 2.80697e-09 3.6889e-09 0.010729 1 0 ZBTB12 221527 broad.mit.edu 37 6 31869005 31869005 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:31869005G>A uc003nyd.1 - 2 254 c.78C>T c.(76-78)CTC>CTT p.L26L C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron NM_181842 NP_862825 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCTCTGCCCGGAGCTGGTTCA 0.657 NA 4 36 0 0 0.009096 0 0 EGFL8 80864 broad.mit.edu 37 6 32134567 32134567 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:32134567C>A uc003oab.1 + 4 372 c.314C>A c.(313-315)CCG>CAG p.P105Q PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.P105Q NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 105 EMI. extracellular region|integral to membrane calcium ion binding 0 AAGCGGCACCCGGGGGCGCTC 0.667 NA 3 43 0.004672 0.00511946 0.004672 1 0 CPNE5 57699 broad.mit.edu 37 6 36710137 36710137 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:36710137G>A uc003omr.1 - 21 1757 c.1690C>T c.(1690-1692)CGC>TGC p.R564C CPNE5_uc003omp.1_Missense_Mutation_p.R272C|CPNE5_uc010jwn.1_Missense_Mutation_p.R214C|CPNE5_uc003omq.1_Missense_Mutation_p.R214C NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 564 skin(1) 1 GGACGCGGGCGAATGCCCTGT 0.687 NA 6 102 0 0 0.001168 0 0 BTBD9 114781 broad.mit.edu 37 6 38562074 38562074 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:38562074G>C uc003ooa.3 - 4 791 c.215C>G c.(214-216)TCT>TGT p.S72C BTBD9_uc003ony.3_Missense_Mutation_p.S4C|BTBD9_uc010jwv.2_Missense_Mutation_p.S4C|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.S72C NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 72 BTB. cell adhesion 0 TTCAGGCTGAGACTCTCGCAT 0.428 NA 6 68 0 0 0.001168 0 0 TREM2 54209 broad.mit.edu 37 6 41126515 41126515 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:41126515A>C uc003opy.2 - 5 782 c.680T>G c.(679-681)CTG>CGG p.L227R TREM2_uc003opz.2_3'UTR|TREM2_uc010jxl.1_Silent_p.A192A NM_018965 NP_061838 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 227 Cytoplasmic (Potential). axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) CGTGTCTCTCAGCCCTGCAAT 0.617 NA 10 93 0 0 0.006214 0 0 GPR116 221395 broad.mit.edu 37 6 46826925 46826925 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:46826925G>C uc003oyo.3 - 17 3004 c.2715C>G c.(2713-2715)CTC>CTG p.L905L GPR116_uc011dwj.1_Silent_p.L460L|GPR116_uc011dwk.1_Silent_p.L334L|GPR116_uc003oyp.3_Silent_p.L763L|GPR116_uc003oyq.3_Silent_p.L905L|GPR116_uc010jzi.1_Silent_p.L577L NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 905 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) GGATGGCTTGGAGAGTTGGGA 0.453 NSCLC(59;410 1274 8751 36715 50546) NA 8 64 0 0 0.00308 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55378876 55378876 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:55378876G>T uc003pcn.2 - 6 761 c.602C>A c.(601-603)TCT>TAT p.S201Y HMGCLL1_uc003pco.2_Missense_Mutation_p.S171Y|HMGCLL1_uc010jzx.2_Missense_Mutation_p.S72Y|HMGCLL1_uc011dxc.1_Missense_Mutation_p.S139Y|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Missense_Mutation_p.S139Y NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 201 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GTGTCTTGCAGACTTAACAAC 0.338 Ovarian(35;840 893 7837 15538 42887) NA 6 32 5.9392e-07 7.45274e-07 0.001168 1 0 BAI3 577 broad.mit.edu 37 6 70070957 70070957 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:70070957G>T uc003pev.3 + 29 4240 c.3792G>T c.(3790-3792)GAG>GAT p.E1264D BAI3_uc010kak.2_Missense_Mutation_p.E1264D|BAI3_uc011dxx.1_Missense_Mutation_p.E470D NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1264 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GTATGAATGAGCTTAGCAATC 0.423 NA 11 33 4.68919e-08 6.00031e-08 0.008291 1 0 CNR1 1268 broad.mit.edu 37 6 88854258 88854258 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:88854258C>T uc011dzq.1 - 2 4299 c.736G>A c.(736-738)GTG>ATG p.V246M CNR1_uc010kbz.2_Missense_Mutation_p.V246M|CNR1_uc011dzr.1_Missense_Mutation_p.V246M|CNR1_uc011dzs.1_Missense_Mutation_p.V246M|CNR1_uc003pmq.3_Missense_Mutation_p.V246M|CNR1_uc011dzt.1_Missense_Mutation_p.V246M|CNR1_uc010kca.2_Missense_Mutation_p.V213M NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 246 Helical; Name=4; (Potential). V -> A (in Ref. 5; AAD34320). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ACGGCGATCACAATGGCTATG 0.527 NA 7 57 0 0 0.00308 0 0 MANEA 79694 broad.mit.edu 37 6 96034645 96034645 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:96034645G>T uc003poo.1 + 2 470 c.330G>T c.(328-330)TGG>TGT p.W110C MANEA_uc003pon.2_Missense_Mutation_p.W110C NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 110 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ATTACAGTTGGTATGGAAATC 0.363 NA 7 39 8.12818e-05 9.4384e-05 0.001984 1 0 HSF2 3298 broad.mit.edu 37 6 122744757 122744757 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:122744757G>C uc003pyu.2 + 10 1289 c.1102G>C c.(1102-1104)GAC>CAC p.D368H HSF2_uc003pyv.2_Missense_Mutation_p.D368H NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 368 Hydrophobic repeat HR-C. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TGACAGTATTGACTGCAGTTT 0.338 NA 7 61 0 0 0.004482 0 0 VTA1 51534 broad.mit.edu 37 6 142468513 142468513 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:142468513G>A uc003qiw.2 + 1 104 c.89G>A c.(88-90)CGA>CAA p.R30Q VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Missense_Mutation_p.E4K NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 30 Interaction with CHMP5.|Interaction with IST1. 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) CATGACAAGCGAGACCCTGTG 0.582 NA OREG0017699 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 23 0 0 0.004672 0 0 SYNJ2 8871 broad.mit.edu 37 6 158492658 158492658 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:158492658G>C uc003qqx.1 + 15 2040 c.1965G>C c.(1963-1965)AAG>AAC p.K655N SYNJ2_uc003qqw.1_Missense_Mutation_p.K655N|SYNJ2_uc003qqy.1_Missense_Mutation_p.K368N|SYNJ2_uc003qqz.1_Missense_Mutation_p.K272N|SYNJ2_uc003qra.1_5'UTR NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 655 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ACACAGTGAAGACGGGCATGG 0.612 NA 6 75 0 0 0.001984 0 0 TAGAP 117289 broad.mit.edu 37 6 159456967 159456967 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:159456967G>T uc003qrz.2 - 10 2420 c.2088C>A c.(2086-2088)ACC>ACA p.T696T TAGAP_uc011eft.1_Silent_p.T633T|TAGAP_uc003qsa.2_Silent_p.T518T NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 696 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACTCGGAGACGGTCCTCAGCG 0.582 NA 10 38 2.17888e-05 2.592e-05 0.006214 1 0 PLG 5340 broad.mit.edu 37 6 161127552 161127552 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:161127552G>T uc003qtm.3 + 2 226 c.163G>T c.(163-165)GAG>TAG p.E55* NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 55 PAN. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AAAATGTGAGGAGGACGAAGA 0.428 NA 18 99 1.01871e-10 1.35712e-10 0.008871 1 0 TTYH3 80727 broad.mit.edu 37 7 2696097 2696097 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:2696097C>T uc003smp.2 + 11 1366 c.1179C>T c.(1177-1179)CTC>CTT p.L393L TTYH3_uc010ksn.2_Silent_p.L113L|TTYH3_uc003smq.2_Silent_p.L222L NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 393 Helical; Name=5; (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) ACCTGGCCCTCTTCTCCTTCG 0.627 NA 10 84 0 0 0.006214 0 0 GNA12 2768 broad.mit.edu 37 7 2771079 2771079 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:2771079G>A uc003smu.2 - 4 1046 c.882C>T c.(880-882)TTC>TTT p.F294F GNA12_uc011jwb.1_Silent_p.F277F|GNA12_uc003smt.2_Silent_p.F235F NM_007353 NP_031379 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) 294 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) TCTTGTTGAGGAAGAGAATGA 0.557 NA 6 64 0 0 0.001168 0 0 ADCY1 107 broad.mit.edu 37 7 45614412 45614412 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:45614412G>T uc003tne.3 + 1 288 c.270G>T c.(268-270)CTG>CTT p.L90L ADCY1_uc003tnd.2_Intron NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 90 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) cgcccggccTGGCCAAGGGCT 0.622 NA 4 20 0.00024832 0.000283274 0.009096 1 0 TRRAP 8295 broad.mit.edu 37 7 98528293 98528293 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:98528293G>C uc003upp.2 + 25 3640 c.3431G>C c.(3430-3432)CGC>CCC p.R1144P TRRAP_uc011kis.1_Missense_Mutation_p.R1144P|TRRAP_uc003upr.2_Missense_Mutation_p.R836P NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1144 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) ATCGTGGAGCGCCTGTGTGCA 0.458 NA 16 186 0 0 0.004007 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621545 99621545 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:99621545C>T uc003usk.1 + 2 635 c.416C>T c.(415-417)TCA>TTA p.S139L ZKSCAN1_uc003usj.2_Missense_Mutation_p.S138L|ZKSCAN1_uc003usl.1_Missense_Mutation_p.S103L|ZKSCAN1_uc003usm.1_Intron NM_003439 NP_003430 P17029 ZKSC1_HUMAN zinc finger protein 36 139 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CTTGATTTATCAGGACAACAG 0.507 NA 7 68 0 0 0.00308 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509705 106509705 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:106509705C>G uc003vdv.3 + 2 1784 c.1699C>G c.(1699-1701)CTC>GTC p.L567V PIK3CG_uc003vdu.2_Missense_Mutation_p.L567V|PIK3CG_uc003vdw.2_Missense_Mutation_p.L567V NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 567 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 ACTTAACCCTCTCACAGCAGA 0.502 NA 5 55 0 0 0.000602 0 0 CADPS2 93664 broad.mit.edu 37 7 122131426 122131426 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:122131426C>T uc010lkp.2 - 10 1754 c.1591G>A c.(1591-1593)GAA>AAA p.E531K CADPS2_uc003vkg.3_Missense_Mutation_p.E231K|CADPS2_uc010lkq.2_Missense_Mutation_p.E531K NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 531 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TCTTGTGGTTCAGACTTCTTT 0.353 NA 3 6 0 0 0.004672 0 0 ADCK2 90956 broad.mit.edu 37 7 140390572 140390572 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:140390572A>C uc003vvy.1 + 7 1877 c.1699A>C c.(1699-1701)AGC>CGC p.S567R ADCK2_uc003vvz.2_Missense_Mutation_p.S567R NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 567 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity 0 Melanoma(164;0.00956) TCATGTGTCCAGCCTTCTCTC 0.547 NA 26 294 0 0 0.00632 0 0 SSPO 23145 broad.mit.edu 37 7 149528279 149528279 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:149528279G>T uc010lpk.2 + 110 15195 c.15195G>T c.(15193-15195)GGG>GGT p.G5065G SSPO_uc003wgh.2_RNA NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 5065 CTCK. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCACCAAAGGGACCTGTTACC 0.617 NA 4 24 1.23904e-05 1.49685e-05 0.000602 1 0 RP1L1 94137 broad.mit.edu 37 8 10468390 10468390 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:10468390C>A uc003wtc.2 - 4 3447 c.3218G>T c.(3217-3219)CGG>CTG p.R1073L NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1073 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGAAGTGCCCGCAGGCTCAC 0.697 NA 5 21 0.000602214 0.000673165 0.000602 1 0 LZTS1 11178 broad.mit.edu 37 8 20110421 20110422 + Nonsense_Mutation DNP CC CC AA rs147904321 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:20110421_20110422CC>AA uc003wzr.2 - 2 1131_1132 c.1020_1021GG>TT c.(1018-1023)CAGGAG>CATTAG p.340_341QE>H* LZTS1_uc010ltg.1_Nonsense_Mutation_p.340_341QE>H* NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 340_341 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGCCGCTTCTCCTGCTGAAGCT 0.644 NA 4 32 0 0 0.004672 0 0 KCNU1 157855 broad.mit.edu 37 8 36766899 36766899 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:36766899C>G uc010lvw.2 + 21 2264 c.2177C>G c.(2176-2178)TCA>TGA p.S726* KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 726 Segment S9.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GATGCCCACTCAGCCCCGATG 0.468 NA 33 236 0 0 0.004289 0 0 TRIB1 10221 broad.mit.edu 37 8 126448348 126448348 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:126448348G>T uc003yrx.2 + 3 1336 c.754G>T c.(754-756)GAG>TAG p.E252* TRIB1_uc011lis.1_Nonsense_Mutation_p.E86*|TRIB1_uc010mdn.2_Nonsense_Mutation_p.E21* NM_025195 NP_079471 Q96RU8 TRIB1_HUMAN G-protein-coupled receptor induced protein 252 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity lung(1) 1 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CGTGAGCCCTGAGATCCTCAA 0.532 NA 5 62 1.23904e-05 1.49685e-05 0.000602 1 0 TMEM71 137835 broad.mit.edu 37 8 133759318 133759318 + Silent SNP A A G rs74775484 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:133759318A>G uc003ytp.2 - 5 586 c.357T>C c.(355-357)TCT>TCC p.S119S TMEM71_uc003ytm.1_5'UTR|TMEM71_uc003ytn.2_Intron|TMEM71_uc003yto.2_Silent_p.S119S NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 119 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GGTTGAAGAGAGAAGAAAAGG 0.393 NA 3 54 0 0 0.004672 0 0 TG 7038 broad.mit.edu 37 8 133883593 133883593 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:133883593G>T uc003ytw.2 + 4 316 c.275G>T c.(274-276)TGT>TTT p.C92F NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 92 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTACCCACAGGTCTGTCATTT 0.507 NA 13 95 1.5842e-08 2.06105e-08 0.001855 1 0 EPPK1 83481 broad.mit.edu 37 8 144945369 144945369 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:144945369C>G uc003zaa.1 - 1 2066 c.2053G>C c.(2053-2055)GAG>CAG p.E685Q NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 685 Plectin 13. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACAGCGCGCTCAGCCGACAGC 0.612 NA 6 50 0 0 0.001168 0 0 GPT 2875 broad.mit.edu 37 8 145730156 145730156 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:145730156C>G uc011lli.1 + 4 412 c.255C>G c.(253-255)GTC>GTG p.V85V GPT_uc011llj.1_Silent_p.V85V|GPT_uc003zdh.3_Silent_p.V85V NM_005309 NP_005300 P24298 ALAT1_HUMAN glutamic pyruvate transaminase 85 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTTCCCAGGTCTTGGCCCTCT 0.647 NA 29 296 0 0 0.009535 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145770662 145770662 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:145770662C>A uc003zdt.1 - 7 3047 c.2492G>T c.(2491-2493)CGG>CTG p.R831L ARHGAP39_uc011llk.1_Missense_Mutation_p.R831L|ARHGAP39_uc003zds.1_Missense_Mutation_p.R831L NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 831 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GTCCATGTGCCGGTAGATGTA 0.627 NA 12 46 3.07112e-06 3.78058e-06 0.010729 1 0 KIAA1432 57589 broad.mit.edu 37 9 5763244 5763244 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:5763244G>C uc003zji.2 + 18 2073 c.1980G>C c.(1978-1980)CTG>CTC p.L660L KIAA1432_uc003zjh.2_Silent_p.L660L|KIAA1432_uc003zjl.3_Silent_p.L623L|KIAA1432_uc003zjj.1_Silent_p.L202L NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 739 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCCTCTGGCTGAGCTGTGGTG 0.532 NA 5 114 0 0 0.000602 0 0 PRUNE2 158471 broad.mit.edu 37 9 79520851 79520851 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:79520851G>C uc010mpk.2 - 1 153 c.29C>G c.(28-30)TCT>TGT p.S10C PRUNE2_uc004akn.2_Missense_Mutation_p.S10C NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 10 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TACCAGTTTAGATTTGGCGCG 0.532 NA 7 65 0 0 0.001984 0 0 C9orf129 445577 broad.mit.edu 37 9 96080730 96080730 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:96080730G>A uc010mre.2 - 5 905 c.541C>T c.(541-543)CCG>TCG p.P181S WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR NM_001098808 NP_001092278 Q5T035 CI129_HUMAN hypothetical protein LOC445577 181 ovary(1) 1 CACACTGGCGGAGCTGCTTGC 0.612 NA 8 86 0 0 0.006214 0 0 COL27A1 85301 broad.mit.edu 37 9 116930955 116930955 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:116930955G>T uc011lxl.1 + 3 1120 c.1120G>T c.(1120-1122)GCC>TCC p.A374S COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.A224S NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 374 Pro-rich. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CAAGCCTTCGGCCCCTTCTAC 0.537 NA 10 99 1.58986e-06 1.96961e-06 0.008291 1 0 CEP110 11064 broad.mit.edu 37 9 123919802 123919802 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:123919802G>C uc004bkx.1 + 26 4451 c.4420G>C c.(4420-4422)GAG>CAG p.E1474Q CEP110_uc004bla.1_Missense_Mutation_p.E922Q|CEP110_uc010mvo.1_Missense_Mutation_p.E143Q|CEP110_uc004blb.1_Missense_Mutation_p.E143Q|CEP110_uc010mvp.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1474 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 ATTGCAAACTGAGTCAGATGC 0.408 NA 4 41 0 0 0.009096 0 0 DMD 1756 broad.mit.edu 37 X 32841411 32841411 + Splice_Site SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:32841411C>A uc004dda.1 - 5 601 c.357_splice c.e5+1 p.Q119_splice DMD_uc004dcz.2_Splice_Site|DMD_uc004dcy.1_Splice_Site_p.Q115_splice|DMD_uc004ddb.1_Splice_Site_p.Q111_splice|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Splice_Site_p.Q111_splice|DMD_uc010ngq.1_Splice_Site|DMD_uc010ngr.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGATTCTTACCTGCCAGTGG 0.328 NA 5 113 3.59834e-05 4.24167e-05 0.001168 1 0 ZNF41 7592 broad.mit.edu 37 X 47306910 47306910 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:47306910C>G uc004dhs.3 - 4 2452 c.2385G>C c.(2383-2385)CAG>CAC p.Q795H ZNF41_uc004dhu.3_Missense_Mutation_p.Q787H|ZNF41_uc004dht.3_Missense_Mutation_p.Q667H|ZNF41_uc004dhv.3_Missense_Mutation_p.Q763H|ZNF41_uc004dhw.3_Missense_Mutation_p.Q755H|ZNF41_uc004dhy.3_Missense_Mutation_p.Q753H|ZNF41_uc004dhx.3_Missense_Mutation_p.Q753H|ZNF41_uc011mlm.1_Missense_Mutation_p.Q667H NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 795 C2H2-type 18. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) TAAAGGCCTTCTGACATTCTG 0.383 NA 13 70 0 0 0.001368 0 0 HUWE1 10075 broad.mit.edu 37 X 53591666 53591666 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:53591666C>G uc004dsp.2 - 51 7300 c.6898G>C c.(6898-6900)GAA>CAA p.E2300Q HUWE1_uc004dsn.2_Missense_Mutation_p.E1124Q NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2300 Glu-rich. 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 TCCTGCACTTCTGCTTCCCCA 0.517 NA 5 107 0 0 0.001984 0 0 HUWE1 10075 broad.mit.edu 37 X 53616620 53616620 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:53616620G>T uc004dsp.2 - 36 4750 c.4348C>A c.(4348-4350)CTT>ATT p.L1450I HUWE1_uc004dsn.2_Missense_Mutation_p.L275I NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1450 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 TCATCAAGAAGGTGGAAGCAG 0.468 NA 9 93 0.00448238 0.00493951 0.004482 1 0 MTMR8 55613 broad.mit.edu 37 X 63445529 63445529 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:63445529A>T uc011mou.1 - 10 1195 c.1127T>A c.(1126-1128)ATG>AAG p.M376K ASB12_uc004dvp.1_5'Flank|ASB12_uc004dvq.1_Missense_Mutation_p.M1K|ASB12_uc004dvr.1_Missense_Mutation_p.M1K NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 AACTATTCTCATTATGAGCAC 0.493 NA 3 8 0 0 0.004672 0 0 VSIG4 11326 broad.mit.edu 37 X 65253491 65253491 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:65253491C>T uc004dwh.2 - 2 364 c.237G>A c.(235-237)CAG>CAA p.Q79Q VSIG4_uc004dwi.2_Silent_p.Q79Q|VSIG4_uc010nkq.1_Silent_p.Q79Q|VSIG4_uc004dwj.2_Silent_p.Q79Q|VSIG4_uc011moy.1_Silent_p.Q79Q|VSIG4_uc004dwk.2_Silent_p.Q79Q|VSIG4_uc004dwl.2_5'UTR NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 79 Ig-like 1.|Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 GGTACTTTGCCTGCTGGATAT 0.547 NA 13 101 0 0 0.001855 0 0 AR 367 broad.mit.edu 37 X 66863140 66863140 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:66863140C>G uc004dwu.1 + 2 2774 c.1659C>G c.(1657-1659)TAC>TAG p.Y553* AR_uc011mpd.1_Nonsense_Mutation_p.Y553*|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Nonsense_Mutation_p.Y553*|AR_uc004dwv.1_Nonsense_Mutation_p.Y21* NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 552 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TTGACTATTACTTTCCACCCC 0.468 NA Androgen_Insensitivity_Syndrome 7 58 0 0 0.00308 0 0 RLIM 51132 broad.mit.edu 37 X 73811920 73811920 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:73811920C>G uc004ebu.2 - 5 1520 c.1230G>C c.(1228-1230)ATG>ATC p.M410I RLIM_uc004ebw.2_Missense_Mutation_p.M410I NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 410 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CAAAACCTGTCATTATCTGCC 0.408 Esophageal Squamous(169;1899 1923 14997 18818 32118) NA 8 91 0 0 0.004482 0 0 P2RY10 27334 broad.mit.edu 37 X 78216469 78216469 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:78216469G>C uc004ede.2 + 4 821 c.452G>C c.(451-453)GGC>GCC p.G151A P2RY10_uc004edf.2_Missense_Mutation_p.G151A NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 151 Helical; Name=4; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TACGATGTGGGCATCAGTGCT 0.498 NA 23 71 0 0 0.012319 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529098 102529098 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:102529098G>A uc004ejz.1 - 3 689 c.394C>T c.(394-396)CAG>TAG p.Q132* NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 AAGTCCTCCTGAGAGTCCTTG 0.532 NA 6 166 0 0 0.001984 0 0 MID2 11043 broad.mit.edu 37 X 107160843 107160843 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:107160843C>A uc004enl.2 + 7 1882 c.1309C>A c.(1309-1311)CAG>AAG p.Q437K MID2_uc004enk.2_Missense_Mutation_p.Q437K NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 437 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 CTATGAGCTTCAGTACACCAT 0.488 NA 18 274 3.52763e-06 4.31525e-06 0.00499 1 0 ALG13 79868 broad.mit.edu 37 X 110951607 110951607 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:110951607G>T uc011msy.1 + 4 770 c.736G>T c.(736-738)GCC>TCC p.A246S ALG13_uc011msw.1_Missense_Mutation_p.A168S|ALG13_uc011msx.1_Missense_Mutation_p.A142S|ALG13_uc011msz.1_Missense_Mutation_p.A168S|ALG13_uc011mta.1_Missense_Mutation_p.A142S|ALG13_uc011mtb.1_Missense_Mutation_p.A142S Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 246 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 CCTCTTTCGGGCCATTTCGGA 0.448 NA 12 146 7.93312e-07 9.92278e-07 0.00245 1 0 ATP1B4 23439 broad.mit.edu 37 X 119513442 119513442 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:119513442G>A uc004esr.2 + 8 1111 c.1027G>A c.(1027-1029)GAT>AAT p.D343N ATP1B4_uc004esq.2_Missense_Mutation_p.D339N|ATP1B4_uc011mtx.1_Missense_Mutation_p.D308N|ATP1B4_uc011mty.1_Missense_Mutation_p.D300N NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 343 Perinuclear space (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 TGTCATCAATGATCGTTTTGT 0.453 NA 6 84 0 0 0.001168 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685379 125685379 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:125685379C>A uc004eul.2 - 1 1464 c.1213G>T c.(1213-1215)GCC>TCC p.A405S NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 405 skin(3)|ovary(1) 4 CTGCCACAGGCAAGCCTGAGC 0.557 NA 15 110 1.5739e-10 2.08958e-10 0.004007 1 0 SMARCA1 6594 broad.mit.edu 37 X 128599538 128599538 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:128599538G>A uc004eun.3 - 23 3102 c.2989C>T c.(2989-2991)CAG>TAG p.Q997* SMARCA1_uc004eup.3_Nonsense_Mutation_p.Q985*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.Q997*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.Q985* NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 997 SANT 2. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 AATCTAAACTGGGGAGCATTT 0.338 NA 5 66 0 0 0.000602 0 0 ELF4 2000 broad.mit.edu 37 X 129201451 129201451 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:129201451A>C uc004evd.3 - 9 1622 c.1237T>G c.(1237-1239)TCG>GCG p.S413A ELF4_uc004eve.3_Missense_Mutation_p.S413A NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 413 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCGAGCCCGACCCCACGGGG 0.597 NA T ERG AML 4 95 0 0 0.009096 0 0 USP26 83844 broad.mit.edu 37 X 132160973 132160973 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:132160973C>G uc010nrm.1 - 6 1746 c.1276G>C c.(1276-1278)GAC>CAC p.D426H USP26_uc011mvf.1_Missense_Mutation_p.D426H NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 426 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) CCACTGGTGTCAGGATCATCA 0.378 NSCLC(104;342 1621 36940 47097 52632) NA 11 80 0 0 0.008291 0 0 GPR112 139378 broad.mit.edu 37 X 135426905 135426905 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:135426905C>A uc004ezu.1 + 6 1331 c.1040C>A c.(1039-1041)TCT>TAT p.S347Y GPR112_uc010nsb.1_Missense_Mutation_p.S142Y|GPR112_uc010nsc.1_Missense_Mutation_p.S114Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 347 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AAATCTCCATCTTCAGAAAGC 0.393 NA 6 47 0.00116845 0.00129864 0.001168 1 0 RBMX 27316 broad.mit.edu 37 X 135960088 135960088 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:135960088C>A uc004fae.1 - 4 584 c.374G>T c.(373-375)CGG>CTG p.R125L RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.R125L|RBMX_uc011mwg.1_Missense_Mutation_p.R86L|RBMX_uc004faf.1_Intron|RBMX_uc010nsf.1_Missense_Mutation_p.R86L|RBMX_uc004fag.1_5'UTR NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 125 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GTGTCCTCCCCGTGAGGGAGG 0.547 NA 7 76 8.12818e-05 9.4384e-05 0.001984 1 0 ATP11C 286410 broad.mit.edu 37 X 138827966 138827966 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:138827966G>T uc004faz.2 - 25 2987 c.2888C>A c.(2887-2889)ACA>AAA p.T963K ATP11C_uc004fax.2_Missense_Mutation_p.T171K|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.T963K NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 963 Helical; (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) AGCCAGAAATGTCCAATATAA 0.393 NA 8 62 1.06961e-07 1.35974e-07 0.00308 1 0 LDOC1 23641 broad.mit.edu 37 X 140270995 140270995 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:140270995G>C uc004fbj.2 - 1 316 c.212C>G c.(211-213)ACG>AGG p.T71R NM_012317 NP_036449 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 71 negative regulation of cell proliferation nucleus protein binding 0 Acute lymphoblastic leukemia(192;7.65e-05) GTAAGACGCCGTCTGCACGAT 0.622 NA 9 91 0 0 0.004482 0 0 AFF2 2334 broad.mit.edu 37 X 148037467 148037467 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:148037467C>A uc004fcp.2 + 11 2371 c.1892C>A c.(1891-1893)CCC>CAC p.P631H AFF2_uc004fcq.2_Missense_Mutation_p.P621H|AFF2_uc004fcr.2_Missense_Mutation_p.P592H|AFF2_uc011mxb.1_Missense_Mutation_p.P596H|AFF2_uc004fcs.2_Missense_Mutation_p.P598H|AFF2_uc011mxc.1_Missense_Mutation_p.P272H NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 631 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) AAAAAACAGCCCAAAAAAGTT 0.433 NA 15 134 0.00244969 0.0027149 0.00245 1 0 GABRE 2564 broad.mit.edu 37 X 151124235 151124235 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:151124235G>C uc004ffi.2 - 7 936 c.882C>G c.(880-882)CTC>CTG p.L294L GABRE_uc011myd.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 294 Helical; (Potential). gamma-aminobutyric acid signaling pathway 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(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AAACCCAGGAGAGCATCGTGG 0.498 NA 7 105 0 0 0.001984 0 0 GABRE 2564 broad.mit.edu 37 X 151128375 151128375 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:151128375C>A uc004ffi.2 - 6 774 c.720G>T c.(718-720)TGG>TGT p.W240C GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 240 Extracellular (Probable). gamma-aminobutyric acid signaling pathway 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(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGAAGAGCTTCCAGGAGTTCT 0.443 NA 8 81 0.000157383 0.000180065 0.00308 1 0 F8 2157 broad.mit.edu 37 X 154221309 154221309 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:154221309G>A uc004fmt.2 - 4 674 c.503C>T c.(502-504)TCT>TTT p.S168F F8_uc011mzx.1_Missense_Mutation_p.S133F NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 168 Plastocyanin-like 1.|F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAGTGGGTCAGAGGCCATTGG 0.463 NA 16 193 0 0 0.006122 0 0 IRF2BP2 359948 broad.mit.edu 37 1 234743316 234743317 + Frame_Shift_Ins INS - - CT TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:234743316_234743317insCT uc001hwg.2 - 2 1361_1362 c.1330_1331insAG c.(1330-1332)GCCfs p.A444fs IRF2BP2_uc009xfw.2_Frame_Shift_Ins_p.A54fs|IRF2BP2_uc001hwf.2_Frame_Shift_Ins_p.A428fs NM_182972 NP_892017 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) AACCTGGTTGGCATCTTTTGAG 0.604 NA 11 164 --- --- --- --- NA NA NA NA NA OR2M2 391194 broad.mit.edu 37 1 248343457 248343457 + Frame_Shift_Del DEL C C - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248343457delC uc010pzf.1 + 1 170 c.170delC c.(169-171)ACCfs p.T57fs NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CAGCTCCACACCCCCATGTAC 0.537 NA 31 392 --- --- --- --- NA NA NA NA NA ZNF585A 199704 broad.mit.edu 37 19 37643721 37643721 + Frame_Shift_Del DEL C C - rs146669317 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:37643721delC uc002ofo.1 - 5 1311 c.1080delG c.(1078-1080)GGGfs p.G360fs ZNF585A_uc002ofm.1_Frame_Shift_Del_p.G305fs|ZNF585A_uc002ofn.1_Frame_Shift_Del_p.G305fs NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 360 C2H2-type 8. 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) TAAAGGCCTTCCCACACTCAG 0.408 NA 26 73 --- --- --- --- NA NA NA NA NA FLRT3 23767 broad.mit.edu 37 20 14306373 14306375 + In_Frame_Del DEL AAG AAG - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 AAG AAG - - AAG AAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:14306373_14306375delAAG uc002wov.1 - 3 2245_2247 c.1778_1780delCTT c.(1777-1782)TCTTTT>TTT p.S593del MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_In_Frame_Del_p.S593del NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 593 Cytoplasmic (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AACATCTGAAAAGAAGTTTCCCT 0.399 NA 16 137 --- --- --- --- NA NA NA NA NA EPHB1 2047 broad.mit.edu 37 3 134851761 134851761 + Frame_Shift_Del DEL C C - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:134851761delC uc003eqt.2 + 5 1387 c.1167delC c.(1165-1167)TGCfs p.C389fs EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 389 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TGACGGAGTGCCGCGTCTCCA 0.617 NA 8 43 --- --- --- --- NA NA NA NA NA DCAF4L2 138009 broad.mit.edu 37 8 88885535 88885536 + Frame_Shift_Ins INS - - A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:88885535_88885536insA uc003ydz.2 - 1 761_762 c.664_665insT c.(664-666)GGGfs p.G222fs NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 222 ovary(1) 1 ACTGCTAGTCCCAAATGACTGC 0.53 NA 8 131 --- --- --- --- NA NA NA NA NA