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 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 isArtifactMode oxoGCut PAX7 5081 broad.mit.edu 37 1 19018401 19018401 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:19018401G>A uc001bay.2 + 5 1338 c.740G>A c.(739-741)CGC>CAC p.R247H PAX7_uc001baz.2_Missense_Mutation_p.R245H|PAX7_uc010oct.1_Missense_Mutation_p.R247H NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 247 Homeobox. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) ATATACACCCGCGAGGAGCTG 0.607 NA T FOXO1A alveolar rhabdomyosarcoma 8 16 0 0 0 0 HSPG2 3339 broad.mit.edu 37 1 22191363 22191363 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:22191363C>T uc001bfj.2 - 36 4639 c.4599G>A c.(4597-4599)CCG>CCA p.P1533P HSPG2_uc009vqd.2_Silent_p.P1534P NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 1533 Laminin EGF-like 9; second part. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGTAGCCTGGCGGGCAGCGGC 0.687 NA 4 11 0 0 0 0 HSPG2 3339 broad.mit.edu 37 1 22205082 22205082 + Missense_Mutation SNP C C A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:22205082C>A uc001bfj.2 - 19 2586 c.2546G>T c.(2545-2547)CGC>CTC p.R849L HSPG2_uc009vqd.2_Missense_Mutation_p.R850L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 849 Laminin EGF-like 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.R849R(1) ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTCACAGCGGCGGCCAGTGTA 0.632 NA 8 31 0.000274275 0.000293693 1 0 TAL1 6886 broad.mit.edu 37 1 47689752 47689752 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:47689752C>T uc001cqx.2 - 3 1042 c.465G>A c.(463-465)CCG>CCA p.P155P TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.P155P|TAL1_uc001cra.1_RNA|TAL1_uc001cqz.1_RNA NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 155 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 GGAAGGCATCCGGCTCCCCAA 0.562 NA T TRD@|SIL lymphoblastic leukemia/biphasic 23 66 0 0 0 0 OMA1 115209 broad.mit.edu 37 1 59002204 59002204 + Nonsense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:59002204G>T uc001cyy.2 - 3 798 c.710C>A c.(709-711)TCG>TAG p.S237* DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Nonsense_Mutation_p.S237*|OMA1_uc009vzz.2_Nonsense_Mutation_p.S237* NM_145243 NP_660286 Q96E52 OMA1_HUMAN OMA1 homolog, zinc metallopeptidase precursor 237 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity large_intestine(1) 1 all_cancers(7;6.54e-05) TTCCAGTTCCGATAAAAGTCT 0.343 NA 12 30 5.17e-11 5.79e-11 1 0 FCRL5 83416 broad.mit.edu 37 1 157509002 157509002 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:157509002C>T uc001fqu.2 - 7 1434 c.1276G>A c.(1276-1278)GCC>ACC p.A426T FCRL5_uc009wsm.2_Missense_Mutation_p.A426T|FCRL5_uc010phv.1_Missense_Mutation_p.A426T|FCRL5_uc010phw.1_Missense_Mutation_p.A341T|FCRL5_uc001fqv.1_Missense_Mutation_p.A426T|FCRL5_uc010phx.1_Missense_Mutation_p.A177T NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 426 Extracellular (Potential).|Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GCAGAGTTGGCCGACCTACGC 0.572 NA 3 41 0 0 0 0 LHX9 56956 broad.mit.edu 37 1 197889131 197889131 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:197889131C>T uc001guk.1 + 2 641 c.204C>T c.(202-204)CCC>CCT p.P68P LHX9_uc001gui.1_Silent_p.P59P|LHX9_uc001guj.1_Silent_p.P74P NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 68 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CGGAGAAGCCCGCCCTGTGCG 0.642 NA 30 81 0 0 0 0 NR5A2 2494 broad.mit.edu 37 1 200017721 200017721 + Silent SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:200017721G>T uc001gvb.2 + 5 1091 c.885G>T c.(883-885)ACG>ACT p.T295T NR5A2_uc001gvc.2_Silent_p.T249T|NR5A2_uc009wzh.2_Silent_p.T255T|NR5A2_uc010pph.1_Silent_p.T223T NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 295 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) GTTACCAGACGAGCTCTCCAG 0.498 NA 24 52 1.11e-09 1.24e-09 1 0 FAM71A 149647 broad.mit.edu 37 1 212798505 212798505 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:212798505G>A uc001hjk.2 + 1 690 c.286G>A c.(286-288)GAA>AAA p.E96K uc010pth.1_Intron NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 96 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CACCGGCTGCGAAGAGTATGC 0.572 NA 5 46 0 0 0 0 NEBL 10529 broad.mit.edu 37 10 21106596 21106596 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr10:21106596C>T uc001iqi.2 - 21 2478 c.2081G>A c.(2080-2082)CGG>CAG p.R694Q NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 694 Nebulin 20. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TGCAGTTCCCCGTTGAAGTTC 0.383 NA 15 56 0 0 0 0 RBP3 5949 broad.mit.edu 37 10 48390514 48390514 + Missense_Mutation SNP G G A rs150932600 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr10:48390514G>A uc001jez.2 - 1 478 c.364C>T c.(364-366)CGC>TGC p.R122C NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 122 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) ACCTCATGGCGGAGGCCCCTT 0.642 NA 29 70 0 0 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74700977 74700977 + Missense_Mutation SNP G G C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr10:74700977G>C uc001jtf.1 - 3 483 c.416C>G c.(415-417)TCG>TGG p.S139W PLA2G12B_uc009xqt.1_Missense_Mutation_p.S49W|PLA2G12B_uc010qjz.1_Missense_Mutation_p.S139W NM_032562 NP_115951 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB precursor 139 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity ovary(1) 1 Prostate(51;0.0198) AGAGCAGATCGAGTGGAGACA 0.498 NA 25 70 0 0 0 0 ADRB1 153 broad.mit.edu 37 10 115804437 115804437 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr10:115804437G>A uc001lba.2 + 1 632 c.546G>A c.(544-546)GTG>GTA p.V182V NM_000684 NP_000675 P08588 ADRB1_HUMAN beta-1-adrenergic receptor 182 Helical; Name=4; (By similarity). positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) TGTGCACCGTGTGGGCCATCT 0.587 NA 11 20 0 0 0 0 CYP2R1 120227 broad.mit.edu 37 11 14913703 14913703 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr11:14913703C>T uc001mlr.2 - 1 49 c.49G>A c.(49-51)GCG>ACG p.A17T CYP2R1_uc001mlo.2_5'Flank|CYP2R1_uc001mlp.2_5'Flank|CYP2R1_uc001mlq.2_5'Flank NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, 17 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity ovary(1)|central_nervous_system(1) 2 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) AGGAAGAGCGCGCCGCCGAGC 0.701 NA 10 17 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22272376 22272376 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr11:22272376C>T uc001mqi.2 + 11 1420 c.1103C>T c.(1102-1104)ACG>ATG p.T368M ANO5_uc001mqj.2_Missense_Mutation_p.T367M NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 368 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 CTAAATAGTACGTGTTTGGCT 0.368 NA 39 49 0 0 0 0 OR4C6 219432 broad.mit.edu 37 11 55433179 55433179 + Missense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr11:55433179G>T uc001nht.3 + 3 802 c.537G>T c.(535-537)TTG>TTT p.L179F OR4C6_uc010rik.1_Missense_Mutation_p.L179F NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TATGTGATTTGTTTCAGTTGT 0.433 NA 50 63 3.68e-26 4.2e-26 1 0 TNKS1BP1 85456 broad.mit.edu 37 11 57088123 57088123 + Missense_Mutation SNP A A C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr11:57088123A>C uc001njr.2 - 2 470 c.158T>G c.(157-159)CTG>CGG p.L53R TNKS1BP1_uc001njs.2_Missense_Mutation_p.L53R|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 53 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) TTTGGCAGGCAGGGCTGGCTT 0.647 NA 5 26 0 0 0 0 SHANK2 22941 broad.mit.edu 37 11 70332944 70332944 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr11:70332944C>T uc001oqc.2 - 21 3532 c.3454G>A c.(3454-3456)GAG>AAG p.E1152K SHANK2_uc010rqn.1_Missense_Mutation_p.E564K|SHANK2_uc001opz.2_Missense_Mutation_p.E557K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 773 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTTTCGGGCTCCCTGGGCGTG 0.677 NA 21 50 0 0 0 0 NUMA1 4926 broad.mit.edu 37 11 71721849 71721849 + Nonsense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr11:71721849G>A uc001orl.1 - 17 4874 c.4702C>T c.(4702-4704)CAG>TAG p.Q1568* NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Nonsense_Mutation_p.Q1117*|NUMA1_uc001ork.1_Nonsense_Mutation_p.Q432*|NUMA1_uc001orm.1_Nonsense_Mutation_p.Q1554*|NUMA1_uc001orn.2_Nonsense_Mutation_p.Q1131* NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1568 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TTCTGCTGCTGCACCTTGCTG 0.592 NA T RARA APL 67 221 0 0 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781352 128781352 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr11:128781352G>A uc001qet.2 + 2 498 c.184G>A c.(184-186)GTG>ATG p.V62M KCNJ5_uc009zck.2_Missense_Mutation_p.V62M|KCNJ5_uc001qew.2_Missense_Mutation_p.V62M NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 62 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CAAGTGCAACGTGCACCACGG 0.607 NA 28 66 0 0 0 0 CACNA1C 775 broad.mit.edu 37 12 2566851 2566851 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:2566851C>T uc009zdu.1 + 5 1049 c.736C>T c.(736-738)CGG>TGG p.R246W CACNA1C_uc009zdv.1_Missense_Mutation_p.R246W|CACNA1C_uc001qkb.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkc.2_Missense_Mutation_p.R246W|CACNA1C_uc001qke.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkf.2_Missense_Mutation_p.R246W|CACNA1C_uc001qjz.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkd.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkg.2_Missense_Mutation_p.R246W|CACNA1C_uc009zdw.1_Missense_Mutation_p.R246W|CACNA1C_uc001qkh.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkl.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkn.2_Missense_Mutation_p.R246W|CACNA1C_uc001qko.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkp.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkr.2_Missense_Mutation_p.R246W|CACNA1C_uc001qku.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkq.2_Missense_Mutation_p.R246W|CACNA1C_uc001qks.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkt.2_Missense_Mutation_p.R246W|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 246 I.|Helical; Name=S4 of repeat I; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGCCCCCTGCGGCTGGTGTC 0.567 NA 71 187 0 0 0 0 DYRK4 8798 broad.mit.edu 37 12 4705363 4705363 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:4705363G>A uc001qmx.2 + 5 491 c.331G>A c.(331-333)GGG>AGG p.G111R DYRK4_uc009zeh.1_Missense_Mutation_p.G226R|DYRK4_uc001qmy.1_Missense_Mutation_p.G111R NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 111 ATP (By similarity).|Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) GGAGACAATCGGGAAGGGGTC 0.542 NA 49 85 0 0 0 0 MLF2 8079 broad.mit.edu 37 12 6857986 6857986 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:6857986C>T uc010sfi.1 - 8 785 c.722G>A c.(721-723)CGA>CAA p.R241Q MLF2_uc001qqp.2_Missense_Mutation_p.R241Q|MLF2_uc009zey.1_Missense_Mutation_p.R241Q NM_005439 NP_005430 Q15773 MLF2_HUMAN myeloid leukemia factor 2 241 defense response cytoplasm|nucleus protein binding large_intestine(1) 1 GCGGGACTGTCGGGAAGGGGA 0.687 NA 7 81 0 0 0 0 TENC1 23371 broad.mit.edu 37 12 53450797 53450797 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:53450797G>A uc001sbp.2 + 11 897 c.762G>A c.(760-762)GGG>GGA p.G254G uc001sbk.1_5'Flank|TENC1_uc001sbl.2_Silent_p.G130G|TENC1_uc001sbn.2_Silent_p.G264G|TENC1_uc001sbo.1_Silent_p.G254G|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 254 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 CTATCCCCAGGGCGGACCAGG 0.577 NA 3 16 0 0 0 0 SMUG1 23583 broad.mit.edu 37 12 54576249 54576249 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:54576249G>A uc001sff.1 - 4 573 c.444C>T c.(442-444)CTC>CTT p.L148L SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Silent_p.L148L|SMUG1_uc009znf.1_Silent_p.L148L|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron NM_014311 NP_055126 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional 148 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity 0 GCTGTCCACAGAGGTTCCGGA 0.567 NA BER_DNA_glycosylases 26 70 0 0 0 0 CDK4 1019 broad.mit.edu 37 12 58143283 58143283 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:58143283G>A uc001spv.2 - 6 864 c.637C>T c.(637-639)CTC>TTC p.L213F CDK4_uc010ssb.1_Missense_Mutation_p.L93F|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank NM_000075 NP_000066 P11802 CDK4_HUMAN cyclin-dependent kinase 4 213 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1)|breast(1)|central_nervous_system(1) 3 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CCACAGAAGAGAGGCCTAAGG 0.403 NA Mis melanoma Hereditary_Melanoma 7 21 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78583919 78583919 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:78583919G>A uc001syp.2 + 34 6384 c.6211G>A c.(6211-6213)GAA>AAA p.E2071K NAV3_uc001syo.2_Missense_Mutation_p.E2049K|NAV3_uc010sub.1_Missense_Mutation_p.E1528K|NAV3_uc009zsf.2_Missense_Mutation_p.E880K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2071 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAAACTTGCTGAATATGTAAT 0.373 NA HNSCC(70;0.22) 10 40 0 0 0 0 HCFC2 29915 broad.mit.edu 37 12 104496888 104496888 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:104496888C>T uc001tkj.3 + 15 2319 c.2216C>T c.(2215-2217)ACA>ATA p.T739I HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 739 Fibronectin type-III 3. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 GGTCTTAAGACATCATGTATA 0.388 NA 6 105 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 29002024 29002024 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr13:29002024C>T uc001usb.3 - 9 1426 c.1141G>A c.(1141-1143)GCT>ACT p.A381T FLT1_uc010aar.1_Missense_Mutation_p.A381T|FLT1_uc001usc.3_Missense_Mutation_p.A381T|FLT1_uc010tdp.1_Missense_Mutation_p.A381T NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 381 Ig-like C2-type 4.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AAATAGCGAGCAGATTTCTCA 0.403 NA 13 54 0 0 0 0 SLC15A1 6564 broad.mit.edu 37 13 99378415 99378415 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr13:99378415G>A uc001vno.2 - 4 284 c.207C>T c.(205-207)CTC>CTT p.L69L SLC15A1_uc001vnp.1_Silent_p.L37L NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 69 Helical; (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TAAGAGCTCCGAGAATTGGCG 0.453 NA 12 31 0 0 0 0 FAM158A 51016 broad.mit.edu 37 14 24608771 24608771 + Missense_Mutation SNP C C A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:24608771C>A uc001wmi.2 - 4 491 c.328G>T c.(328-330)GAT>TAT p.D110Y NM_016049 NP_057133 Q9Y3B6 F158A_HUMAN hypothetical protein LOC51016 110 0 AGTACTGCATCAGGGAAGAAT 0.527 NA 8 24 0.000442599 0.000471154 1 0 MIA2 117153 broad.mit.edu 37 14 39716136 39716136 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:39716136C>T uc001wux.2 + 4 552 c.358C>T c.(358-360)CTT>TTT p.L120F MIA2_uc010amy.1_Missense_Mutation_p.L51F NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 120 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) TCTTTGTCTTCTTGGAGTAAG 0.294 NA 5 19 0 0 0 0 SDCCAG1 9147 broad.mit.edu 37 14 50318366 50318366 + Missense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:50318366G>T uc001wxc.2 - 3 214 c.146C>A c.(145-147)ACA>AAA p.T49K SDCCAG1_uc010anj.1_Missense_Mutation_p.T49K|SDCCAG1_uc010tqi.1_Missense_Mutation_p.T49K|SDCCAG1_uc001wxe.2_Missense_Mutation_p.T49K|SDCCAG1_uc010anq.1_5'UTR NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 49 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) AAGTAAAAGTGTAGCTTTAAA 0.353 NA 4 59 0.000602214 0.000639192 1 0 SYNE2 23224 broad.mit.edu 37 14 64565540 64565540 + Splice_Site SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:64565540G>A uc001xgm.2 + 63 12611 c.12381_splice c.e63+1 p.D4127_splice SYNE2_uc001xgl.2_Splice_Site_p.D4127_splice|SYNE2_uc010apy.2_Splice_Site_p.D512_splice|SYNE2_uc010apx.1_Missense_Mutation_p.V520I|SYNE2_uc010apz.1_Splice_Site_p.D19_splice NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAAGAGCGATGTAAGGGAAAT 0.388 NA 5 19 0 0 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209185 71209185 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:71209185G>A uc001xmm.2 - 6 1450 c.1450C>T c.(1450-1452)CTC>TTC p.L484F MAP3K9_uc010ttk.1_Missense_Mutation_p.L221F|MAP3K9_uc001xmk.2_Missense_Mutation_p.L178F|MAP3K9_uc001xml.2_Missense_Mutation_p.L484F NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 484 Leucine-zipper 2. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) ATGATGTTGAGCTCCCGTTCC 0.617 NA 14 35 0 0 0 0 PAPLN 89932 broad.mit.edu 37 14 73720589 73720589 + Missense_Mutation SNP G G T rs145657526 byFrequency TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:73720589G>T uc010ttx.1 + 11 1385 c.1222G>T c.(1222-1224)GGG>TGG p.G408W PAPLN_uc001xnw.3_Missense_Mutation_p.G381W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.G408W NM_173462 NP_775733 O95428 PPN_HUMAN papilin 408 TSP type-1 3. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TGAGTGTGCCGGGCTGCCTGG 0.697 NA 14 39 1.05e-09 1.18e-09 1 0 PTGR2 145482 broad.mit.edu 37 14 74345930 74345930 + Silent SNP C C A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:74345930C>A uc001xow.2 + 6 811 c.651C>A c.(649-651)CTC>CTA p.L217L PTGR2_uc010tue.1_Silent_p.L217L|PTGR2_uc001xox.2_Silent_p.L217L|ZNF410_uc001xoy.1_Intron NM_001146154 NP_001139626 Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 217 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding 0 CAGAACAGCTCCGTGAATCAT 0.403 NA 45 112 4.07e-11 4.57e-11 1 0 C14orf148 122945 broad.mit.edu 37 14 77872373 77872373 + Missense_Mutation SNP C C G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:77872373C>G uc001xtr.2 - 5 935 c.788G>C c.(787-789)AGT>ACT p.S263T NM_001113475 NP_001106946 Q6NXP6 CN148_HUMAN hypothetical protein LOC122945 isoform 1 263 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0277) AAAGAGTTCACTCAGAAGCTG 0.463 NA 7 25 0 0 0 0 TDP1 55775 broad.mit.edu 37 14 90485752 90485752 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:90485752C>T uc001xxy.2 + 15 1933 c.1634C>T c.(1633-1635)CCT>CTT p.P545L TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.P545L|TDP1_uc010atn.2_Missense_Mutation_p.P545L|TDP1_uc001xya.2_Missense_Mutation_p.P306L|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.P545L|TDP1_uc001xyd.1_Missense_Mutation_p.P160L NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 545 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CTTTTCCTCCCTTCAGCATTT 0.512 NA Repair_of_DNA-protein_crosslinks 7 15 0 0 0 0 FBLN5 10516 broad.mit.edu 37 14 92347671 92347671 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:92347671G>A uc001xzx.3 - 9 1427 c.954C>T c.(952-954)ATC>ATT p.I318I FBLN5_uc010aud.2_Silent_p.I323I|FBLN5_uc010aue.2_Silent_p.I359I NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 318 EGF-like 6; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) CCTCACAGCGGATGGGGTCAA 0.527 NA 11 35 0 0 0 0 FBLN5 10516 broad.mit.edu 37 14 92357591 92357591 + Missense_Mutation SNP A A G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:92357591A>G uc001xzx.3 - 6 1066 c.593T>C c.(592-594)CTC>CCC p.L198P FBLN5_uc010aud.2_Missense_Mutation_p.L203P|FBLN5_uc010aue.2_Missense_Mutation_p.L239P NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 198 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) ATCCTCATTGAGGGTAAAACC 0.478 NA 3 45 0 0 0 0 GPR132 29933 broad.mit.edu 37 14 105518369 105518369 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr14:105518369G>A uc001yqd.2 - 4 1004 c.105C>T c.(103-105)AAC>AAT p.N35N GPR132_uc001yqc.2_Translation_Start_Site|GPR132_uc001yqe.2_Silent_p.N26N NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 35 Extracellular (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) CGAAGGACACGTTGTTGCAGG 0.657 NA 17 50 0 0 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434752 42434752 + Missense_Mutation SNP C C T rs138996971 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr15:42434752C>T uc001zoz.2 - 19 2366 c.2303G>A c.(2302-2304)CGT>CAT p.R768H PLA2G4F_uc010bcq.2_Missense_Mutation_p.R65H|PLA2G4F_uc001zoy.2_Missense_Mutation_p.R400H|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R519H|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R519H|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R555H NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 768 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCGGAAGGTACGGTTAACCAG 0.637 NA 12 50 0 0 0 0 MYO5A 4644 broad.mit.edu 37 15 52664414 52664414 + Silent SNP G G C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr15:52664414G>C uc002aby.2 - 21 2968 c.2724C>G c.(2722-2724)CTC>CTG p.L908L MYO5A_uc002abx.3_Silent_p.L908L|MYO5A_uc010uge.1_Silent_p.L777L NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 908 IQ 6. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CCTCGATTTTGAGCTTCTTTA 0.537 NA 11 25 0 0 0 0 PARP16 54956 broad.mit.edu 37 15 65555626 65555626 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr15:65555626G>A uc002aoo.2 - 4 806 c.552C>T c.(550-552)ACC>ACT p.T184T PARP16_uc002aop.2_Silent_p.T69T|PARP16_uc002aoq.2_Silent_p.T184T NM_017851 NP_060321 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 184 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity lung(2) 2 TCAAGTCACTGGTGAGGTAGG 0.567 NA 4 18 0 0 0 0 EFTUD1 79631 broad.mit.edu 37 15 82512532 82512532 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr15:82512532C>T uc002bgt.1 - 13 1500 c.1331G>A c.(1330-1332)CGT>CAT p.R444H EFTUD1_uc002bgu.1_Missense_Mutation_p.R393H NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 444 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 TTGTCTTGCACGCTCACGTCT 0.498 NA 45 144 0 0 0 0 UMOD 7369 broad.mit.edu 37 16 20348717 20348717 + Missense_Mutation SNP C C A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr16:20348717C>A uc002dgz.2 - 8 1765 c.1636G>T c.(1636-1638)GGC>TGC p.G546C UMOD_uc002dha.2_Missense_Mutation_p.G546C|UMOD_uc002dhb.2_Missense_Mutation_p.G579C NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 546 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 GAAAATCGGCCCTGGGAGGAC 0.453 NA 14 29 7.93e-07 8.73e-07 1 0 SLC12A4 6560 broad.mit.edu 37 16 67979117 67979117 + Silent SNP T T C rs150617520 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr16:67979117T>C uc002euz.2 - 23 3180 c.3039A>G c.(3037-3039)CAA>CAG p.Q1013Q LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.Q1007Q|SLC12A4_uc010vkh.1_Silent_p.Q982Q|SLC12A4_uc010vki.1_Silent_p.Q1007Q|SLC12A4_uc010vkj.1_Silent_p.Q1015Q|SLC12A4_uc002eva.2_Silent_p.Q1013Q NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 1013 Cytoplasmic (Potential). cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCACATTGGATTGGTCCCTAC 0.592 NA 14 49 0 0 0 0 ZNF23 7571 broad.mit.edu 37 16 71482652 71482652 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr16:71482652C>T uc002faf.2 - 6 2090 c.1276G>A c.(1276-1278)GGG>AGG p.G426R ZNF23_uc002fad.2_Missense_Mutation_p.G368R|ZNF23_uc002fae.2_Missense_Mutation_p.G368R|ZNF23_uc010vmf.1_Missense_Mutation_p.G368R|ZNF23_uc002fag.2_Missense_Mutation_p.G368R|ZNF23_uc002fah.2_Missense_Mutation_p.G426R|ZNF23_uc002fai.2_Missense_Mutation_p.G465R NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 426 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) AAGGCTTTCCCGCATTCATTA 0.463 NA 8 30 0 0 0 0 SLC16A13 201232 broad.mit.edu 37 17 6942181 6942181 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:6942181G>A uc002geh.2 + 3 1362 c.1054G>A c.(1054-1056)GGG>AGG p.G352R NM_201566 NP_963860 Q7RTY0 MOT13_HUMAN monocarboxylate transporter 13 352 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(1)|skin(1) 2 AGAGAGCATCGGGGGGCTGCT 0.463 NA 29 97 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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-Fraumeni_syndrome|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) 6 35 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 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-Fraumeni_syndrome|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) 18 28 0 0 0 0 CHD3 1107 broad.mit.edu 37 17 7800529 7800529 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:7800529G>A uc002gje.2 + 11 1986 c.1836G>A c.(1834-1836)CCG>CCA p.P612P CHD3_uc002gjd.2_Silent_p.P671P|CHD3_uc002gjf.2_Silent_p.P612P|CHD3_uc002gjg.1_Silent_p.P440P NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 612 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) TGAAAGACCCGCACTATGCTG 0.542 NA 17 45 0 0 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:39274415C>T uc002hvz.2 - 1 192 c.153G>A c.(151-153)AGG>AGA p.R51R NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 6.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667 NA 5 50 0 0 0 0 WNK4 65266 broad.mit.edu 37 17 40940718 40940718 + Missense_Mutation SNP G G C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:40940718G>C uc002ibj.2 + 11 2081 c.2060G>C c.(2059-2061)AGA>ACA p.R687T WNK4_uc010wgx.1_Missense_Mutation_p.R351T|WNK4_uc002ibk.1_Missense_Mutation_p.R459T|WNK4_uc010wgy.1_Missense_Mutation_p.R31T NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 687 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CAGAATGACAGAGTGGTTGAG 0.532 NA 13 37 0 0 0 0 TBX21 30009 broad.mit.edu 37 17 45822604 45822604 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:45822604G>A uc002ilv.1 + 6 1691 c.1480G>A c.(1480-1482)GAA>AAA p.E494K NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 494 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 AGGACTGGGCGAAGGAGACTC 0.617 NA 11 31 0 0 0 0 ICAM2 3384 broad.mit.edu 37 17 62080239 62080239 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:62080239C>T uc002jdu.3 - 4 928 c.696G>A c.(694-696)TCG>TCA p.S232S C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Silent_p.S232S|ICAM2_uc010ded.2_Silent_p.S232S|ICAM2_uc002jdx.3_Silent_p.S232S|ICAM2_uc002jdv.3_Silent_p.S232S NM_000873 NP_000864 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 precursor 232 Helical; (Potential). cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding ovary(1) 1 ACAGCAACACCGACACCACCG 0.612 NA 3 16 0 0 0 0 USH1G 124590 broad.mit.edu 37 17 72915913 72915913 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:72915913C>T uc002jme.1 - 2 1201 c.1018G>A c.(1018-1020)GGA>AGA p.G340R USH1G_uc010wro.1_Missense_Mutation_p.G237R NM_173477 NP_775748 Q495M9 USH1G_HUMAN Usher syndrome 1G protein 340 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton skin(2) 2 all_lung(278;0.172)|Lung NSC(278;0.207) CGCGGCGCTCCCACCCCATCC 0.687 NA 18 82 0 0 0 0 SLC26A11 284129 broad.mit.edu 37 17 78211342 78211342 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:78211342G>A uc002jyb.1 + 9 1203 c.934G>A c.(934-936)GTG>ATG p.V312M SLC26A11_uc002jyc.1_Missense_Mutation_p.V312M|SLC26A11_uc002jyd.1_Missense_Mutation_p.V312M|SLC26A11_uc010dhv.1_Missense_Mutation_p.V312M NM_173626 NP_775897 Q86WA9 S2611_HUMAN solute carrier family 26, member 11 312 Helical; (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity 0 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CGGGCTGGCCGTGGTGCCCCT 0.642 NA 7 11 0 0 0 0 DOT1L 84444 broad.mit.edu 37 19 2210646 2210646 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:2210646G>A uc002lvb.3 + 14 1179 c.1143G>A c.(1141-1143)GCG>GCA p.A381A DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 381 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGAGAAGGCGGGAGCAGCCA 0.647 NA 19 76 0 0 0 0 DUS3L 56931 broad.mit.edu 37 19 5789493 5789493 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:5789493C>T uc002mdc.2 - 3 722 c.625G>A c.(625-627)GGC>AGC p.G209S DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 209 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 TTGTCCAGGCCGTTGCGGATG 0.726 NA 5 9 0 0 0 0 C3 718 broad.mit.edu 37 19 6685055 6685055 + Missense_Mutation SNP A A G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:6685055A>G uc002mfm.2 - 30 3975 c.3913T>C c.(3913-3915)TCC>CCC p.S1305P C3_uc002mfl.2_Missense_Mutation_p.S41P NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1305 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTGATCTTGGAGCTGCGGCTG 0.582 NA 3 52 0 0 0 0 RDH8 50700 broad.mit.edu 37 19 10124179 10124179 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:10124179C>T uc002mmr.2 + 1 255 c.6C>T c.(4-6)GCC>GCT p.A2A NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 2 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) TCAACATGGCCGCTGCACCCC 0.607 NA 14 28 0 0 0 0 OR7A17 26333 broad.mit.edu 37 19 14992152 14992152 + Missense_Mutation SNP C C G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:14992152C>G uc010xob.1 - 1 16 c.16G>C c.(16-18)GAC>CAC p.D6H NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) ATCCCTGTGTCATTCTCTGGT 0.279 NA 9 13 0 0 0 0 LSR 51599 broad.mit.edu 37 19 35757379 35757379 + Missense_Mutation SNP C C A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:35757379C>A uc002nyl.2 + 6 1263 c.1040C>A c.(1039-1041)CCT>CAT p.P347H LSR_uc002nym.2_Missense_Mutation_p.P328H|LSR_uc002nyn.2_Missense_Mutation_p.P279H|LSR_uc002nyo.2_Missense_Mutation_p.P328H|LSR_uc010xsr.1_Missense_Mutation_p.P239H|LSR_uc002nyp.2_Missense_Mutation_p.P310H|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 347 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCATGGGCCCTGCCTACAAC 0.627 NA 19 24 2.46e-09 2.73e-09 1 0 FBXO27 126433 broad.mit.edu 37 19 39521762 39521762 + Nonsense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:39521762C>T uc002okh.2 - 4 561 c.479G>A c.(478-480)TGG>TAG p.W160* NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 160 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CTTGCAACACCAGCTGGGAAT 0.537 NA 28 41 0 0 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39905661 39905661 + Nonsense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:39905661C>T uc010xuz.1 + 3 464 c.139C>T c.(139-141)CGA>TGA p.R47* PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Nonsense_Mutation_p.R47*|PLEKHG2_uc010xva.1_5'Flank NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 47 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGCCTCCCCCCGAGGTTCTGG 0.652 NA 4 3 0 0 0 0 CADM4 199731 broad.mit.edu 37 19 44131798 44131798 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:44131798C>T uc002oxc.1 - 2 258 c.209G>A c.(208-210)CGT>CAT p.R70H NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 70 Ig-like V-type.|Extracellular (Potential). cell adhesion integral to membrane 0 Prostate(69;0.0199) GCACTCACCACGGGTGCCATT 0.378 NA 21 68 0 0 0 0 HIF3A 64344 broad.mit.edu 37 19 46842835 46842835 + Missense_Mutation SNP G G A rs143456536 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:46842835G>A uc002peh.2 + 15 1995 c.1966G>A c.(1966-1968)GGG>AGG p.G656R HIF3A_uc002pek.2_Missense_Mutation_p.G600R|HIF3A_uc010xxy.1_Missense_Mutation_p.G587R|HIF3A_uc002pel.2_Missense_Mutation_p.G654R NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 656 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TACCCAGCCCGGGGGCCCCTT 0.577 NA 15 74 0 0 0 0 GRLF1 2909 broad.mit.edu 37 19 47423751 47423751 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:47423751G>A uc010ekv.2 + 1 1819 c.1819G>A c.(1819-1821)GGC>AGC p.G607S NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 607 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GGGCAAAGACGGCCTTGCCCG 0.433 NA 62 97 0 0 0 0 C5AR1 728 broad.mit.edu 37 19 47823721 47823721 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:47823721G>A uc002pgj.1 + 2 736 c.687G>A c.(685-687)ACG>ACA p.T229T NM_001736 NP_001727 P21730 C5AR_HUMAN complement component 5 receptor 1 229 Cytoplasmic (Potential). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TGCTCCGGACGTGGAGCCGCA 0.617 NA 37 83 0 0 0 0 CCDC114 93233 broad.mit.edu 37 19 48806034 48806034 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:48806034C>T uc002pir.2 - 10 1729 c.1046G>A c.(1045-1047)CGC>CAC p.R349H CCDC114_uc002piq.2_Missense_Mutation_p.R158H|CCDC114_uc002pio.2_Missense_Mutation_p.R386H|CCDC114_uc002pis.1_Missense_Mutation_p.R29H|CCDC114_uc002pit.1_Missense_Mutation_p.R386H NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 349 Potential. ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CTTGTCCATGCGCTGCTGCAA 0.632 NA 29 61 0 0 0 0 NTF4 4909 broad.mit.edu 37 19 49564963 49564963 + Missense_Mutation SNP C C G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:49564963C>G uc002pmf.3 - 2 433 c.292G>C c.(292-294)GAT>CAT p.D98H CGB7_uc010yah.1_Intron NM_006179 NP_006170 P34130 NTF4_HUMAN neurotrophin 5 preproprotein 98 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity 0 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CTGACTGCATCGCACACAGCC 0.697 NA 6 15 0 0 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461907 50461907 + Silent SNP G G A rs139230914 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:50461907G>A uc010ybh.1 - 7 1447 c.1356C>T c.(1354-1356)TCC>TCT p.S452S SIGLEC11_uc010ybi.1_Silent_p.S452S NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 452 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CACAGTGCACGGAGAGGCTGA 0.652 NA 21 89 0 0 0 0 NLRP11 204801 broad.mit.edu 37 19 56321143 56321143 + Missense_Mutation SNP C C A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:56321143C>A uc010ygf.1 - 5 1544 c.833G>T c.(832-834)AGG>ATG p.R278M NLRP11_uc002qlz.2_Missense_Mutation_p.R179M|NLRP11_uc002qmb.2_Missense_Mutation_p.R179M|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 278 NACHT. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ACGTGTGGGCCTTGAGGAGAT 0.463 NA 13 43 0.000151284 0.000164914 1 0 ZNF749 388567 broad.mit.edu 37 19 57955756 57955756 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr19:57955756G>A uc002qoq.2 + 3 1494 c.1240G>A c.(1240-1242)GAA>AAA p.E414K ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 414 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TAAGTGTAGCGAATGTGGGAA 0.428 NA 26 58 0 0 0 0 SNTG2 54221 broad.mit.edu 37 2 1271203 1271203 + Missense_Mutation SNP G G C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:1271203G>C uc002qwq.2 + 14 1272 c.1144G>C c.(1144-1146)GAG>CAG p.E382Q SNTG2_uc010ewi.2_Missense_Mutation_p.E255Q NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 382 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TTTTGACTTTGAGGACCAGAG 0.522 NA 9 12 0 0 0 0 ADCY3 109 broad.mit.edu 37 2 25054533 25054533 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:25054533G>A uc002rfs.3 - 11 2252 c.2053C>T c.(2053-2055)CGG>TGG p.R685W ADCY3_uc002rfr.3_Missense_Mutation_p.R318W|ADCY3_uc010ykm.1_Missense_Mutation_p.R685W NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 685 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCTCTTACCCGGGGAAAGATG 0.498 NA 5 24 0 0 0 0 TTC27 55622 broad.mit.edu 37 2 33036234 33036234 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:33036234G>A uc002rom.2 + 17 2373 c.2142G>A c.(2140-2142)CTG>CTA p.L714L TTC27_uc010ymx.1_Silent_p.L664L|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 714 HAT 3. protein binding central_nervous_system(1) 1 TCTGGAGGCTGTATGCCCACG 0.453 NA 8 32 0 0 0 0 ZNF638 27332 broad.mit.edu 37 2 71591185 71591185 + Missense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:71591185G>T uc002shx.2 + 5 1839 c.1520G>T c.(1519-1521)CGG>CTG p.R507L ZNF638_uc010fec.2_Missense_Mutation_p.R613L|ZNF638_uc010yqw.1_Missense_Mutation_p.R86L|ZNF638_uc002shw.2_Missense_Mutation_p.R507L|ZNF638_uc002shy.2_Missense_Mutation_p.R507L|ZNF638_uc002shz.2_Missense_Mutation_p.R507L|ZNF638_uc002sia.2_Missense_Mutation_p.R507L|ZNF638_uc002sib.1_Missense_Mutation_p.R507L|ZNF638_uc010fed.2_5'Flank NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 507 Arg-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AGATTCCGTCGGTCTCGAAGC 0.453 NA 24 45 4.27e-12 4.81e-12 1 0 DYSF 8291 broad.mit.edu 37 2 71755438 71755438 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:71755438C>T uc002sie.2 + 13 1567 c.1191C>T c.(1189-1191)GCC>GCT p.A397A DYSF_uc010feg.2_Silent_p.A428A|DYSF_uc010feh.2_Silent_p.A397A|DYSF_uc002sig.3_Silent_p.A397A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.A397A|DYSF_uc010fef.2_Silent_p.A428A|DYSF_uc010fei.2_Silent_p.A428A|DYSF_uc010fek.2_Silent_p.A429A|DYSF_uc010fej.2_Silent_p.A398A|DYSF_uc010fel.2_Silent_p.A398A|DYSF_uc010feo.2_Silent_p.A429A|DYSF_uc010fem.2_Silent_p.A398A|DYSF_uc010fen.2_Silent_p.A429A|DYSF_uc002sif.2_Silent_p.A398A NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 397 Cytoplasmic (Potential).|C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TGGACGATGCCGTGATGGACA 0.542 NA 7 16 0 0 0 0 CNGA3 1261 broad.mit.edu 37 2 99013652 99013652 + Silent SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:99013652G>T uc002syt.2 + 8 2436 c.2019G>T c.(2017-2019)GGG>GGT p.G673G CNGA3_uc002syu.2_Silent_p.G655G|CNGA3_uc010fij.2_Silent_p.G677G NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 673 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 AGGGTGGTGGGGACAAGCCCC 0.557 NA 9 42 1.59e-06 1.74e-06 1 0 TMEM37 140738 broad.mit.edu 37 2 120194723 120194723 + Missense_Mutation SNP G G A rs148211959 byFrequency TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:120194723G>A uc002tly.2 + 2 314 c.280G>A c.(280-282)GTG>ATG p.V94M NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN transmembrane protein 37 94 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1) 1 GGTACGCAGCGTGGGCGCCTT 0.637 NA 21 68 0 0 0 0 MYO7B 4648 broad.mit.edu 37 2 128384586 128384586 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:128384586G>A uc002top.2 + 31 4227 c.4174G>A c.(4174-4176)GTG>ATG p.V1392M MYO7B_uc002toq.1_Missense_Mutation_p.V245M|MYO7B_uc002tor.1_Missense_Mutation_p.V245M NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1392 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACCACTGGCCGTGCGAGAGCA 0.612 NA 7 7 0 0 0 0 LCT 3938 broad.mit.edu 37 2 136575003 136575003 + Missense_Mutation SNP T T C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:136575003T>C uc002tuu.1 - 6 1626 c.1615A>G c.(1615-1617)ACC>GCC p.T539A NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 539 Extracellular (Potential).|4 X approximate repeats.|2. 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) TCATGGAAGGTCACCCACAGC 0.587 NA 12 36 0 0 0 0 GALNT3 2591 broad.mit.edu 37 2 166627124 166627124 + Missense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:166627124G>T uc010fph.1 - 2 474 c.87C>A c.(85-87)TTC>TTA p.F29L GALNT3_uc010fpi.1_Missense_Mutation_p.F29L|GALNT3_uc002udi.2_Missense_Mutation_p.F29L NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 29 Helical; Signal-anchor for type II membrane protein; (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 CTATTATAAAGAAAAAAATTA 0.308 NA 10 22 0.000442599 0.000471154 1 0 RAPH1 65059 broad.mit.edu 37 2 204305768 204305768 + Silent SNP A A G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:204305768A>G uc002vad.2 - 14 2370 c.2145T>C c.(2143-2145)CCT>CCC p.P715P NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 715 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 ggggtggaggagggggagggg 0.488 NA 5 21 0 0 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563678 228563678 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:228563678G>A uc002vpi.2 - 3 842 c.753C>T c.(751-753)AGC>AGT p.S251S SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.S247S NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 251 Cytoplasmic (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) TTGGTTTCAGGCTGTTCAGCT 0.473 NA 22 40 0 0 0 0 HES6 55502 broad.mit.edu 37 2 239147619 239147619 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr2:239147619G>A uc002vxz.2 - 4 659 c.524C>T c.(523-525)CCG>CTG p.P175L HES6_uc002vya.2_Missense_Mutation_p.P173L|HES6_uc002vyb.2_3'UTR NM_018645 NP_061115 Q96HZ4 HES6_HUMAN hairy and enhancer of split 6 isoform a 175 cell differentiation transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148) CCCAGGACCCGGGGGGCTGGG 0.726 NA 5 13 0 0 0 0 C20orf103 24141 broad.mit.edu 37 20 9510395 9510395 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr20:9510395C>T uc002wni.1 + 6 1000 c.771C>T c.(769-771)CAC>CAT p.H257H C20orf103_uc010zrc.1_Silent_p.H213H NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 257 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) CGATTTACCACGTCCACCACA 0.552 NA 12 41 0 0 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18123437 18123437 + Missense_Mutation SNP C C G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr20:18123437C>G uc002wqj.2 + 2 755 c.133C>G c.(133-135)CAG>GAG p.Q45E CSRP2BP_uc002wqk.2_5'Flank NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 45 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 ATCCGAGGATCAGGCATCAGT 0.547 NA 11 103 0 0 0 0 C20orf114 92747 broad.mit.edu 37 20 31876618 31876618 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr20:31876618C>T uc002wyw.1 + 3 348 c.187C>T c.(187-189)CGG>TGG p.R63W C20orf114_uc010gej.1_Missense_Mutation_p.R63W NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 63 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 CAGTGCCATGCGGGAAAAGCC 0.627 NA 10 41 0 0 0 0 MATN4 8785 broad.mit.edu 37 20 43930045 43930045 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr20:43930045G>A uc002xnn.2 - 4 869 c.682C>T c.(682-684)CAC>TAC p.H228Y MATN4_uc002xno.2_Intron|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.H176Y|MATN4_uc002xnr.1_Missense_Mutation_p.H228Y NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 269 EGF-like 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) ACGCAGTGGTGCTCACATCCA 0.557 NA 22 32 0 0 0 0 PARD6B 84612 broad.mit.edu 37 20 49354499 49354499 + Missense_Mutation SNP G G A rs142377445 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr20:49354499G>A uc002xvo.2 + 2 415 c.172G>A c.(172-174)GTT>ATT p.V58I NM_032521 NP_115910 Q9BYG5 PAR6B_HUMAN PAR-6 beta 58 OPR. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding kidney(1) 1 CAATGTTGACGTTTTGGTAGG 0.383 NA 35 37 0 0 0 0 GNAS 2778 broad.mit.edu 37 20 57415178 57415178 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr20:57415178G>A uc002xzt.2 + 1 384 c.17G>A c.(16-18)CGG>CAG p.R6Q GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CGGAGGTCCCGGGCTCAGCAG 0.667 NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 30 30 0 0 0 0 GNAS 2778 broad.mit.edu 37 20 57430002 57430002 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr20:57430002G>A uc002xzw.2 + 1 1967 c.1682G>A c.(1681-1683)CGC>CAC p.R561H GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGCCGCGGCCGCCGCGTGTAC 0.687 NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 5 4 0 0 0 0 BIRC7 79444 broad.mit.edu 37 20 61870794 61870794 + Missense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr20:61870794G>T uc002yej.2 + 6 907 c.734G>T c.(733-735)CGG>CTG p.R245L BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.R227L NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 245 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) CAGCTGCGGCGGCTGCAGGAG 0.692 NA 27 31 4.39e-27 5.03e-27 1 0 DSCAM 1826 broad.mit.edu 37 21 41561106 41561106 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr21:41561106C>T uc002yyq.1 - 12 2868 c.2416G>A c.(2416-2418)GAG>AAG p.E806K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 806 Ig-like C2-type 9.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGCTCATCTCCTTTTTCTGC 0.507 NA 23 45 0 0 0 0 NF2 4771 broad.mit.edu 37 22 30061031 30061031 + Nonsense_Mutation SNP C C G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr22:30061031C>G uc003age.3 + 9 1306 c.863C>G c.(862-864)TCA>TGA p.S288* NF2_uc003afy.3_Nonsense_Mutation_p.S288*|NF2_uc003afz.3_Nonsense_Mutation_p.S205*|NF2_uc003agf.3_Nonsense_Mutation_p.S288*|NF2_uc003agb.3_Nonsense_Mutation_p.S211*|NF2_uc003agc.3_Nonsense_Mutation_p.S250*|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Nonsense_Mutation_p.S288*|NF2_uc003aga.3_Nonsense_Mutation_p.S246*|NF2_uc003agh.3_Nonsense_Mutation_p.S247*|NF2_uc003agi.3_Nonsense_Mutation_p.S205*|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Nonsense_Mutation_p.S250*|NF2_uc010gvp.2_5'UTR NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 288 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.L127_D382del(1)|p.F271_L295del(1)|p.?(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 TTTAACTCCTCAAAGCTTCGT 0.353 NA D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 2 9 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36708123 36708123 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr22:36708123C>T uc003apg.2 - 14 1930 c.1699G>A c.(1699-1701)GAT>AAT p.D567N MYH9_uc003aph.1_Missense_Mutation_p.D431N NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 567 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 ATGCAGAAATCAGCTTTGTCC 0.582 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 27 28 0 0 0 0 ITGA9 3680 broad.mit.edu 37 3 37523001 37523001 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr3:37523001C>T uc003chd.2 + 4 500 c.447C>T c.(445-447)ATC>ATT p.I149I ITGA9_uc003chc.2_Silent_p.I149I NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 149 Extracellular (Potential).|FG-GAP 2. axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GGAAGAACATCTACTATGAAG 0.532 NA 11 70 0 0 0 0 FLNB 2317 broad.mit.edu 37 3 58145386 58145386 + Missense_Mutation SNP G G A rs139262140 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr3:58145386G>A uc003djj.2 + 42 7159 c.6994G>A c.(6994-6996)GAG>AAG p.E2332K FLNB_uc010hne.2_Missense_Mutation_p.E2363K|FLNB_uc003djk.2_Missense_Mutation_p.E2321K|FLNB_uc010hnf.2_Missense_Mutation_p.E2308K|FLNB_uc003djl.2_Missense_Mutation_p.E2152K|FLNB_uc003djm.2_Missense_Mutation_p.E2139K NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2332 Filamin 22.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGCCGTGGAGGAGTGCCACGT 0.552 NA 4 31 0 0 0 0 PXK 54899 broad.mit.edu 37 3 58395289 58395289 + Nonsense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr3:58395289C>T uc003djz.1 + 15 1438 c.1339C>T c.(1339-1341)CAG>TAG p.Q447* PXK_uc003djx.1_Nonsense_Mutation_p.Q447*|PXK_uc003djy.1_Nonsense_Mutation_p.Q430*|PXK_uc003dka.1_Nonsense_Mutation_p.Q447*|PXK_uc003dkb.1_Nonsense_Mutation_p.Q364*|PXK_uc003dkc.1_Nonsense_Mutation_p.Q430*|PXK_uc011bfe.1_Nonsense_Mutation_p.Q414*|PXK_uc010hnj.1_Nonsense_Mutation_p.Q414*|PXK_uc003dkd.1_Nonsense_Mutation_p.Q310*|PXK_uc010hnk.1_Nonsense_Mutation_p.Q221* NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 447 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) GACAAGAGCTCAGTCCCACCA 0.418 NA 4 27 0 0 0 0 ACOX2 8309 broad.mit.edu 37 3 58516345 58516345 + Silent SNP G G A rs142094321 byFrequency TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr3:58516345G>A uc003dkl.2 - 8 1015 c.840C>T c.(838-840)TAC>TAT p.Y280Y NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 280 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) CGAGTTTGACGTAGGTGCCAT 0.597 NA 7 16 0 0 0 0 KBTBD12 166348 broad.mit.edu 37 3 127703084 127703084 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr3:127703084C>T uc010hsr.2 + 5 1838 c.1835C>T c.(1834-1836)CCG>CTG p.P612L KBTBD12_uc003ejy.3_Missense_Mutation_p.P219L|KBTBD12_uc010hsq.2_RNA|KBTBD12_uc003eka.3_Missense_Mutation_p.P187L NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 612 ovary(1) 1 CTCATCCCCCCGCCTTCAGAT 0.537 NA 21 32 0 0 0 0 TRPC1 7220 broad.mit.edu 37 3 142511763 142511763 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr3:142511763G>A uc003evc.2 + 9 1671 c.1535G>A c.(1534-1536)CGT>CAT p.R512H TRPC1_uc003evb.2_Missense_Mutation_p.R478H|TRPC1_uc011bni.1_Intron NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 512 Extracellular (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AGTTATCTTCGTCTCTTTTTT 0.338 NA 12 35 0 0 0 0 GPR160 26996 broad.mit.edu 37 3 169801877 169801877 + Silent SNP T T C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr3:169801877T>C uc003fgi.2 + 4 707 c.117T>C c.(115-117)AAT>AAC p.N39N GPR160_uc010hwq.2_Silent_p.N39N NM_014373 NP_055188 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 39 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TATTATTAAATATCCTTACAC 0.328 NA 19 34 0 0 0 0 HTR3D 200909 broad.mit.edu 37 3 183756386 183756386 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr3:183756386C>T uc011bqv.1 + 7 1109 c.1109C>T c.(1108-1110)CCG>CTG p.P370L HTR3D_uc003fmj.2_Missense_Mutation_p.P195L|HTR3D_uc011bqu.1_Missense_Mutation_p.P320L|HTR3D_uc010hxp.2_Missense_Mutation_p.P149L NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 370 Cytoplasmic (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AATAAGGGCCCGGGTCTCACC 0.468 NA 6 18 0 0 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2307028 2307028 + Missense_Mutation SNP G G A rs145750553 TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr4:2307028G>A uc003gex.1 - 8 1358 c.1039C>T c.(1039-1041)CGC>TGC p.R347C ZFYVE28_uc011bvk.1_Missense_Mutation_p.R277C|ZFYVE28_uc011bvl.1_Missense_Mutation_p.R317C|ZFYVE28_uc003gew.1_Missense_Mutation_p.R233C NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 347 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 TGGACCATGCGGCTGAGCTGC 0.657 NA 9 40 0 0 0 0 GBA3 57733 broad.mit.edu 37 4 22737769 22737769 + Missense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr4:22737769G>T uc003gqp.3 + 2 315 c.224G>T c.(223-225)CGC>CTC p.R75L GBA3_uc010iep.2_Missense_Mutation_p.R75L|GBA3_uc011bxo.1_Missense_Mutation_p.R76L NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 75 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 ACTCATTACCGCTTCTCTCTT 0.433 NA 28 84 6.07e-21 6.91e-21 1 0 GBA3 57733 broad.mit.edu 37 4 22820363 22820363 + Silent SNP C C G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr4:22820363C>G uc003gqp.3 + 5 1318 c.1227C>G c.(1225-1227)GTC>GTG p.V409V GBA3_uc010iep.2_Silent_p.V102V|GBA3_uc011bxo.1_Silent_p.V410V NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 409 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TTGATAAAGTCAATCTTCAAG 0.393 NA 7 12 0 0 0 0 PGM2 55276 broad.mit.edu 37 4 37848660 37848660 + Silent SNP G G A rs146573335 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr4:37848660G>A uc011byb.1 + 9 1189 c.1116G>A c.(1114-1116)ACG>ACA p.T372T PGM2_uc011bya.1_Silent_p.T233T|PGM2_uc011byc.1_Silent_p.T212T NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 372 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 TCAAAGACACGTACATGTTGT 0.498 NA 37 104 0 0 0 0 C4orf33 132321 broad.mit.edu 37 4 130030466 130030466 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr4:130030466G>A uc003igu.3 + 4 611 c.247G>A c.(247-249)GGA>AGA p.G83R C4orf33_uc010ioc.1_Missense_Mutation_p.G83R|C4orf33_uc010iod.2_Missense_Mutation_p.G83R NM_173487 NP_775758 Q8N1A6 CD033_HUMAN hypothetical protein LOC132321 83 upper_aerodigestive_tract(1) 1 TGACAGCCACGGACAGCATTT 0.328 NA 27 87 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11346651 11346651 + Missense_Mutation SNP C C G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr5:11346651C>G uc003jfa.1 - 9 1606 c.1461G>C c.(1459-1461)CAG>CAC p.Q487H CTNND2_uc010itt.2_Missense_Mutation_p.Q396H|CTNND2_uc011cmy.1_Missense_Mutation_p.Q150H|CTNND2_uc011cmz.1_Missense_Mutation_p.Q54H|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.Q54H NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 487 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 AGCTGGCCCTCTGGAAGGTGG 0.642 NA 19 103 0 0 0 0 BRIX1 55299 broad.mit.edu 37 5 34924964 34924964 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr5:34924964G>A uc003jja.2 + 9 700 c.676G>A c.(676-678)GAT>AAT p.D226N NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN BRIX 226 Brix. ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding 0 CATAGAAGAAGATGCTGCTCT 0.338 NA 9 68 0 0 0 0 RASA1 5921 broad.mit.edu 37 5 86675667 86675668 + Splice_Site DNP CG CG TT rs138785106 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr5:86675667_86675668CG>TT uc003kiw.2 + 19 2721 c.2603_splice c.e19+1 p.P868_splice RASA1_uc010jav.2_Splice_Site|RASA1_uc003kix.2_Splice_Site_p.P691_splice|RASA1_uc011ctv.1_Splice_Site_p.P701_splice|RASA1_uc011ctw.1_Splice_Site_p.P702_splice|RASA1_uc010jaw.2_Splice_Site_p.P690_splice NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ATACTTCCACCGTAAGTGGTGA 0.302 NA 19 27 0 0 0 0 SNX24 28966 broad.mit.edu 37 5 122337107 122337107 + Missense_Mutation SNP G G C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr5:122337107G>C uc011cwo.1 + 5 521 c.352G>C c.(352-354)GAT>CAT p.D118H SNX24_uc003ktf.2_Missense_Mutation_p.D118H|SNX24_uc010jcy.2_Missense_Mutation_p.D118H NM_014035 NP_054754 Q9Y343 SNX24_HUMAN SBBI31 protein 118 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) TAGATCTTTTGATGAAACAGA 0.318 NA 3 15 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216300 140216300 + Nonsense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr5:140216300C>T uc003lhq.2 + 1 2332 c.2332C>T c.(2332-2334)CAG>TAG p.Q778* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Nonsense_Mutation_p.Q778* NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 778 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCCTTCCTCAGGGTCCATC 0.478 NA 20 11 0 0 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801398 140801398 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr5:140801398G>A uc003lkq.1 + 1 862 c.604G>A c.(604-606)GAC>AAC p.D202N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.D202N|PCDHGA11_uc003lkp.1_Missense_Mutation_p.D202N NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 202 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAAGCCTGGACCGAGAGAA 0.562 NA 12 30 0 0 0 0 GPLD1 2822 broad.mit.edu 37 6 24437398 24437398 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:24437398G>A uc003ned.1 - 21 2251 c.2140C>T c.(2140-2142)CGC>TGC p.R714C NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 714 FG-GAP 6. extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 CGGGAGAAGCGGCGGTCTCCG 0.552 NA 15 43 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38825334 38825334 + Nonsense_Mutation SNP C C G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:38825334C>G uc003ooe.1 + 40 5723 c.5123C>G c.(5122-5124)TCA>TGA p.S1708* NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ACACACGATTCAGAAGAGGCT 0.348 NA 14 41 0 0 0 0 CUL9 23113 broad.mit.edu 37 6 43152214 43152214 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:43152214G>A uc003ouk.2 + 2 241 c.166G>A c.(166-168)GAA>AAA p.E56K CUL9_uc003ouj.1_Missense_Mutation_p.E56K|CUL9_uc003oul.2_Missense_Mutation_p.E56K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 56 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 AGTGGGTGTGGAAGAAGGCAA 0.562 NA 18 37 0 0 0 0 POPDC3 64208 broad.mit.edu 37 6 105606599 105606599 + Nonsense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:105606599G>A uc003prb.2 - 4 1024 c.622C>T c.(622-624)CGA>TGA p.R208* uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 208 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) GACACATATCGACAATCAGTT 0.413 NA 20 103 0 0 0 0 PDSS2 57107 broad.mit.edu 37 6 107780282 107780282 + Missense_Mutation SNP G G C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:107780282G>C uc003prt.2 - 1 498 c.208C>G c.(208-210)CGC>GGC p.R70G PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.R70G|PDSS2_uc003pru.2_Missense_Mutation_p.R70G|PDSS2_uc003prv.2_Missense_Mutation_p.R70G NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 70 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) AGCAGGCAGCGAAGGCTCATG 0.622 NA OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 36 0 0 0 0 LACE1 246269 broad.mit.edu 37 6 108723212 108723212 + Missense_Mutation SNP A A G TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:108723212A>G uc003psj.2 + 7 947 c.761A>G c.(760-762)AAT>AGT p.N254S NM_145315 NP_660358 Q8WV93 LACE1_HUMAN lactation elevated 1 254 ATP binding central_nervous_system(1) 1 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) CTCTATAAAAATGGACTCCAA 0.284 NA 3 11 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129714240 129714240 + Missense_Mutation SNP G G C rs138296015 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:129714240G>C uc003qbn.2 + 37 5390 c.5285G>C c.(5284-5286)CGG>CCG p.R1762P LAMA2_uc003qbo.2_Missense_Mutation_p.R1762P NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1762 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGAGAGTCCCGGGGGGAAAAT 0.468 NA 13 47 0 0 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130425615 130425615 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:130425615G>A uc003qbt.2 + 19 1951 c.1781G>A c.(1780-1782)CGT>CAT p.R594H L3MBTL3_uc003qbu.2_Missense_Mutation_p.R569H NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 594 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AATAAAGACCGTATTTTTCCA 0.383 NA 31 61 0 0 0 0 C7orf46 340277 broad.mit.edu 37 7 23731200 23731200 + Missense_Mutation SNP G G C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:23731200G>C uc003swo.3 + 4 711 c.622G>C c.(622-624)GAT>CAT p.D208H C7orf46_uc003swq.3_Missense_Mutation_p.D208H|C7orf46_uc003swr.3_Missense_Mutation_p.D150H|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA NM_199136 NP_954587 A4D161 CG046_HUMAN hypothetical protein LOC340277 isoform 1 208 0 CATGCGGTTAGATGACAGTGG 0.423 NA 23 52 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55233012 55233012 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:55233012G>A uc003tqk.2 + 15 2008 c.1762G>A c.(1762-1764)GGC>AGC p.G588S EGFR_uc003tqi.2_Missense_Mutation_p.G588S|EGFR_uc003tqj.2_Missense_Mutation_p.G588S|EGFR_uc010kzg.1_Missense_Mutation_p.G543S|EGFR_uc011kco.1_Missense_Mutation_p.G535S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 588 Approximate.|Extracellular (Potential). DGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTACATTGACGGCCCCCACTG 0.532 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 23 43 0 0 0 0 ZAN 7455 broad.mit.edu 37 7 100391590 100391590 + Missense_Mutation SNP G G A rs143981169 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:100391590G>A uc003uwj.2 + 44 8101 c.7936G>A c.(7936-7938)GAG>AAG p.E2646K ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_Intron|ZAN_uc010lhi.2_Intron|ZAN_uc011kke.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2646 Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GTGGCACCCAGAGCCTCCCCT 0.672 NA 5 17 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100686824 100686824 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:100686824C>T uc003uxp.1 + 3 12180 c.12127C>T c.(12127-12129)CGT>TGT p.R4043C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4043 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TGTCACCACCCGTCCTGTGAC 0.537 NA 40 106 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101840038 101840038 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:101840038C>T uc003uyx.3 + 15 1385 c.1347C>T c.(1345-1347)CAC>CAT p.H449H CUX1_uc003uys.3_Silent_p.H460H|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 449 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 ATGGTACACACCAGTTCTCAC 0.572 NA 30 73 0 0 0 0 KCND2 3751 broad.mit.edu 37 7 119915562 119915562 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:119915562C>T uc003vjj.1 + 1 1841 c.876C>T c.(874-876)CTC>CTT p.L292L NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 292 Helical; Voltage-sensor; Name=Segment S4; (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TTGTCACACTCCGAGTCTTCC 0.527 NA 12 23 0 0 0 0 PAX4 5078 broad.mit.edu 37 7 127255554 127255554 + Silent SNP G G C TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:127255554G>C uc010lld.1 - 1 227 c.21C>G c.(19-21)CTC>CTG p.L7L PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Silent_p.L7L|PAX4_uc003vmh.2_5'UTR NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 15 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CATTCACAAAGAGCCCCCCAA 0.617 NA 15 81 0 0 0 0 SSBP1 6742 broad.mit.edu 37 7 141445354 141445354 + Missense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:141445354G>T uc003vwo.1 + 6 451 c.373G>T c.(373-375)GTG>TTG p.V125L SSBP1_uc011kri.1_Missense_Mutation_p.V125L|SSBP1_uc010lnp.1_Missense_Mutation_p.V125L NM_003143 NP_003134 Q04837 SSBP_HUMAN single-stranded DNA binding protein 1 precursor 125 SSB. DNA replication|positive regulation of helicase activity mitochondrial nucleoid single-stranded DNA binding ovary(1) 1 Melanoma(164;0.0171) TAAAAATAATGTGAGGCGACA 0.313 NA 15 40 4.75e-09 5.26e-09 1 0 KRBA1 84626 broad.mit.edu 37 7 149430329 149430329 + Silent SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr7:149430329G>A uc003wfz.2 + 18 2685 c.2286G>A c.(2284-2286)CCG>CCA p.P762P KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.P369P NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 762 Pro-rich. ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCAGGGCCCGCCTGAGCTGC 0.647 NA 39 114 0 0 0 0 CA8 767 broad.mit.edu 37 8 61178601 61178601 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr8:61178601C>T uc003xtz.1 - 3 548 c.300G>A c.(298-300)TCG>TCA p.S100S CA8_uc003xua.1_Silent_p.S100S|CA8_uc003xub.2_Silent_p.S100S NM_004056 NP_004047 P35219 CAH8_HUMAN carbonic anhydrase VIII 100 S -> P (in CMARQ3; affects protein stability owing to accelerated proteasomal degradation). one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) ATGGTCCTCCCGAAAGAACTG 0.388 NA 11 30 0 0 0 0 KCNS2 3788 broad.mit.edu 37 8 99440583 99440583 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr8:99440583C>T uc003yin.2 + 2 726 c.376C>T c.(376-378)CGC>TGC p.R126C NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 126 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CTACCATGGCCGCAAAGTAGA 0.552 NA 20 40 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100729474 100729474 + Missense_Mutation SNP G G A rs147099791 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr8:100729474G>A uc003yiv.2 + 37 6716 c.6605G>A c.(6604-6606)CGC>CAC p.R2202H VPS13B_uc003yiw.2_Missense_Mutation_p.R2177H NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2202 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GAAAGAAGCCGCATTCTGATA 0.393 NA 28 32 0 0 0 0 PHF20L1 51105 broad.mit.edu 37 8 133848943 133848943 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr8:133848943G>A uc003ytt.2 + 16 2393 c.2068G>A c.(2068-2070)GAG>AAG p.E690K PHF20L1_uc011lja.1_Missense_Mutation_p.E664K NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 690 PHD-type. nucleic acid binding|zinc ion binding 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) TGAGATGGATGAGGAGAATGG 0.388 NA 14 70 0 0 0 0 NRBP2 340371 broad.mit.edu 37 8 144919579 144919579 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr8:144919579C>T uc011lkt.1 - 12 1216 c.1076G>A c.(1075-1077)CGG>CAG p.R359Q NRBP2_uc003yzv.2_Missense_Mutation_p.R116Q|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_Missense_Mutation_p.R151Q|NRBP2_uc010mfl.2_Missense_Mutation_p.R151Q|NRBP2_uc010mfm.2_Missense_Mutation_p.R116Q|NRBP2_uc011lks.1_Missense_Mutation_p.R116Q|NRBP2_uc003yzy.2_Missense_Mutation_p.R116Q NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 359 negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2) 2 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GACTGCTCACCGCCACTGCAG 0.532 NA 4 9 0 0 0 0 UNC13B 10497 broad.mit.edu 37 9 35377547 35377547 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr9:35377547C>T uc003zwq.2 + 15 1963 c.1671C>T c.(1669-1671)ATC>ATT p.I557I UNC13B_uc003zwr.2_Silent_p.I557I NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 557 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GCATGAAGATCCGAGAGCGAA 0.507 NA 16 265 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35724888 35724888 + Silent SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr9:35724888C>T uc003zxt.2 - 4 651 c.297G>A c.(295-297)ACG>ACA p.T99T TLN1_uc003zxu.3_Silent_p.T99T NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 99 FERM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCACCATGATCGTCTTCACAG 0.512 NA 21 198 0 0 0 0 TMEM2 23670 broad.mit.edu 37 9 74305092 74305092 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr9:74305092G>A uc011lsa.1 - 22 4307 c.3767C>T c.(3766-3768)CCA>CTA p.P1256L TMEM2_uc011lrz.1_Missense_Mutation_p.P249L|TMEM2_uc010mos.2_Missense_Mutation_p.P1193L|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.P90L NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1256 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CAAGCGGAATGGAACGCTGCA 0.478 NA 23 74 0 0 0 0 VPS13A 23230 broad.mit.edu 37 9 79840885 79840885 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr9:79840885G>A uc004akr.2 + 14 1465 c.1205G>A c.(1204-1206)AGA>AAA p.R402K VPS13A_uc004akp.3_Missense_Mutation_p.R402K|VPS13A_uc004akq.3_Missense_Mutation_p.R402K|VPS13A_uc004aks.2_Missense_Mutation_p.R402K NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 402 TPR 2. Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ACTATAGCTAGACAGACGGCA 0.264 NA 23 89 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32328384 32328384 + Missense_Mutation SNP G G A TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chrX:32328384G>A uc004dda.1 - 42 6176 c.5932C>T c.(5932-5934)CGT>TGT p.R1978C DMD_uc004dcw.2_Missense_Mutation_p.R634C|DMD_uc004dcx.2_Missense_Mutation_p.R637C|DMD_uc004dcz.2_Missense_Mutation_p.R1855C|DMD_uc004dcy.1_Missense_Mutation_p.R1974C|DMD_uc004ddb.1_Missense_Mutation_p.R1970C|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1978 Spectrin 13. 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) GTTTCTTCACGGACAGTGTGC 0.378 NA 8 5 0 0 0 0 PHKA1 5255 broad.mit.edu 37 X 71800893 71800893 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chrX:71800893C>T uc004eax.3 - 32 3932 c.3631G>A c.(3631-3633)GTG>ATG p.V1211M PHKA1_uc004eay.3_Missense_Mutation_p.V1198M|PHKA1_uc011mqi.1_Missense_Mutation_p.V1139M|PHKA1_uc010nll.2_Missense_Mutation_p.V243M NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 1211 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) AACTCCTGCACGTAGGTGGCG 0.567 NA 7 8 0 0 0 0 CT47B1 643311 broad.mit.edu 37 X 120008979 120008979 + Silent SNP T T C rs871733 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chrX:120008979T>C uc011muc.1 - 1 801 c.546A>G c.(544-546)CCA>CCG p.P182P NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 182 0 CCTCGCCTTCTGGGGCTGCAG 0.711 NA 3 26 0 0 0 0 SLC9A1 6548 broad.mit.edu 37 1 27436232 27436232 + Frame_Shift_Del DEL C C - TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr1:27436232delC uc001bnm.2 - 3 1476 c.850delG c.(850-852)GAAfs p.E284fs SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Frame_Shift_Del_p.E284fs NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 284 Extracellular (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) CCCACGTGTTCGTAGTTGGCA 0.642 NA 30 57 --- --- --- --- NA NA NA NA MLL2 8085 broad.mit.edu 37 12 49427266 49427268 + In_Frame_Del DEL TGC TGC - TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr12:49427266_49427268delTGC uc001rta.3 - 39 11220_11222 c.11220_11222delGCA c.(11218-11223)CAGCAA>CAA p.3740_3741QQ>Q NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3740_3741 Potential.|Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ctgctgctgttgctgctgctgct 0.468 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 8 16 --- --- --- --- NA NA NA NA KRT14 3861 broad.mit.edu 37 17 39740519 39740521 + In_Frame_Del DEL TTC TTC - TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr17:39740519_39740521delTTC uc002hxf.1 - 3 814_816 c.753_755delGAA c.(751-756)AAGAAC>AAC p.K251del JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_In_Frame_Del_p.K251del NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 251 Coil 1B.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) CTCCTCGTGGTTCTTCTTCAGGT 0.414 NA 26 100 --- --- --- --- NA NA NA NA TNXB 7148 broad.mit.edu 37 6 32049423 32049424 + Frame_Shift_Ins INS - - G rs12211410 by1000genomes TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80442509-c2f0-4047-956e-a3633dfd472b fff52fee-b4e5-4e06-976f-894ca57c3a9e g.chr6:32049423_32049424insG uc003nzl.2 - 10 3965_3966 c.3763_3764insC c.(3763-3765)CGCfs p.R1255fs NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1342 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GAACTCAGGGCGGGGGGGCTCC 0.639 NA 2 4 --- --- --- --- NA NA NA NA