Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KIF1B 23095 broad.mit.edu 37 1 10421840 10421840 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:10421840C>G uc001aqx.3 + 40 4463 c.4261C>G c.(4261-4263)CTG>GTG p.L1421V KIF1B_uc001aqw.3_Missense_Mutation_p.L1375V|KIF1B_uc001aqy.2_Missense_Mutation_p.L1395V|KIF1B_uc001aqz.2_Missense_Mutation_p.L1421V|KIF1B_uc001ara.2_Missense_Mutation_p.L1381V|KIF1B_uc001arb.2_Missense_Mutation_p.L1407V NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1421 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ACCACGCTCTCTGCGTAGCCT 0.488 NA 7 110 0 0 0.001984 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939843 12939843 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:12939843G>T uc001aun.2 - 4 1030 c.959C>A c.(958-960)CCG>CAG p.P320Q NM_001009611 NP_001009611 O60810 PRAM4_HUMAN PRAME family member 4 320 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTGATACTCGGGCACTGGGA 0.468 NA 30 383 1.69901e-12 2.69367e-12 0.005524 1 0 CELA2A 63036 broad.mit.edu 37 1 15792622 15792622 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:15792622G>A uc001awk.2 + 6 648 c.622G>A c.(622-624)GTG>ATG p.V208M NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 208 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GGGTGATGGCGTGATCTCCAG 0.577 NA 4 143 0 0 0.000602 0 0 PADI4 23569 broad.mit.edu 37 1 17664568 17664568 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:17664568C>T uc001baj.2 + 5 472 c.444C>T c.(442-444)GCC>GCT p.A148A PADI4_uc009vpc.2_Silent_p.A148A NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 148 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GACAGGGTGCCATCCTGCTGG 0.532 NA 5 69 0 0 0.000602 0 0 AKR7A2 8574 broad.mit.edu 37 1 19634651 19634651 + Splice_Site SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:19634651C>A uc001bbw.2 - 3 613 c.591_splice c.e3+1 p.Q197_splice AKR7A2_uc001bbx.2_Intron|AKR7A2_uc009vpi.1_Missense_Mutation_p.V198L NM_003689 NP_003680 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCGGCCCTCACCTGGTACACA 0.617 NA 9 59 1.76689e-08 2.52541e-08 0.006214 1 0 KDM1A 23028 broad.mit.edu 37 1 23382500 23382500 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:23382500T>G uc001bgi.2 + 6 1048 c.899T>G c.(898-900)TTT>TGT p.F300C KDM1A_uc001bgj.2_Missense_Mutation_p.F320C NM_015013 NP_055828 O60341 KDM1A_HUMAN lysine-specific histone demethylase 1 isoform b 300 FAD (Potential).|Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 TTACAAAGTTTTGGAATGGAT 0.373 NA 5 94 0 0 0.001168 0 0 ZNF436 80818 broad.mit.edu 37 1 23689281 23689281 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:23689281C>G uc001bgt.2 - 3 975 c.594G>C c.(592-594)GAG>GAC p.E198D ZNF436_uc001bgu.2_Missense_Mutation_p.E198D NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN zinc finger protein 436 198 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TTTTCCCACACTCGTTACAGT 0.423 NA 8 200 0 0 0.00308 0 0 EXTL1 2134 broad.mit.edu 37 1 26349661 26349661 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:26349661T>A uc001blf.2 + 1 1391 c.524T>A c.(523-525)CTG>CAG p.L175Q NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 175 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) ACCTTCCAGCTGGGACAGGCT 0.642 NA 4 29 0 0 0.000248 0 0 COL16A1 1307 broad.mit.edu 37 1 32138038 32138038 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:32138038C>T uc001btk.1 - 47 3449 c.3084G>A c.(3082-3084)TTG>TTA p.L1028L COL16A1_uc001bti.1_5'Flank|COL16A1_uc001btj.1_Silent_p.L841L NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 1028 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TCTGGCCTGGCAATCCCGGAG 0.557 Colon(143;498 1786 21362 25193 36625) NA 8 56 0 0 0.006214 0 0 COL16A1 1307 broad.mit.edu 37 1 32155342 32155342 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:32155342C>A uc001btk.1 - 23 1985 c.1620G>T c.(1618-1620)AGG>AGT p.R540S COL16A1_uc001btj.1_Missense_Mutation_p.R369S|COL16A1_uc001btl.3_Missense_Mutation_p.R540S NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 540 Cell attachment site (Potential).|Triple-helical region 8 (COL8) with 1 imperfection. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGGCACTCACCCTGGCTGGTA 0.567 Colon(143;498 1786 21362 25193 36625) NA 8 47 3.86212e-05 4.81489e-05 0.008291 1 0 LCK 3932 broad.mit.edu 37 1 32745303 32745303 + Silent SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:32745303A>C uc001bux.2 + 10 1134 c.996A>C c.(994-996)TCA>TCC p.S332S LCK_uc001buy.2_Silent_p.S332S|LCK_uc001buz.2_Silent_p.S362S|LCK_uc010ohc.1_Silent_p.S376S|LCK_uc001bva.2_Silent_p.S339S NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 332 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) AGACCCCTTCAGGCATCAAGT 0.577 NA T TRB@ T-ALL 21 219 0 0 0.002299 0 0 INPP5B 3633 broad.mit.edu 37 1 38341286 38341286 + Nonsense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:38341286T>A uc001ccg.1 - 17 1874 c.1780A>T c.(1780-1782)AAG>TAG p.K594* INPP5B_uc009vvk.1_Nonsense_Mutation_p.K535*|INPP5B_uc001ccf.1_Nonsense_Mutation_p.K430*|INPP5B_uc010oij.1_RNA NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 674 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACCTCTCGCTTGGACAGGGAC 0.343 NA 4 52 0 0 0.000248 0 0 MACF1 23499 broad.mit.edu 37 1 39844975 39844975 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:39844975C>A uc010oiu.1 + 18 8828 c.8697C>A c.(8695-8697)CTC>CTA p.L2899L MACF1_uc010ois.1_Silent_p.L2397L|MACF1_uc001cda.1_Silent_p.L2284L|MACF1_uc001cdc.1_Silent_p.L1463L NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4464 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGGCTATCCTCAACAGAATGG 0.473 NA 18 222 3.52763e-06 4.65417e-06 0.00499 1 0 DMBX1 127343 broad.mit.edu 37 1 46976740 46976740 + Missense_Mutation SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:46976740A>C uc001cpx.2 + 3 497 c.482A>C c.(481-483)CAG>CCG p.Q161P DMBX1_uc001cpw.2_Missense_Mutation_p.Q156P NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 161 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CCAGATACCCAGCTGGACACT 0.637 NA 5 52 0 0 0.000602 0 0 DMRTA2 63950 broad.mit.edu 37 1 50885323 50885323 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:50885323T>G uc010ona.1 - 2 739 c.643A>C c.(643-645)AAG>CAG p.K215Q DMRTA2_uc010onb.1_Missense_Mutation_p.K215Q NM_032110 NP_115486 Q96SC8 DMTA2_HUMAN DMRT-like family A2 215 Gly-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 GATAAGGGCTTCACCGGCGGC 0.677 Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804) NA 2 6 0 0 0.004672 0 0 PDE4B 5142 broad.mit.edu 37 1 66384348 66384348 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:66384348C>T uc001dcn.2 + 3 302 c.111C>T c.(109-111)ATC>ATT p.I37I PDE4B_uc009war.2_Intron|PDE4B_uc001dco.2_Silent_p.I37I NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 37 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CACTTGGGATCGACCTCTGGA 0.438 NA 6 104 0 0 0.001168 0 0 C1orf173 127254 broad.mit.edu 37 1 75086563 75086563 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:75086563A>G uc001dgg.2 - 8 1074 c.855T>C c.(853-855)AGT>AGC p.S285S uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.S79S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 285 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TAGCTGCATTACTATGTAAGG 0.343 NA 5 59 0 0 0.000602 0 0 EPHX4 253152 broad.mit.edu 37 1 92511124 92511125 + Missense_Mutation DNP GG GG TT TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:92511124_92511125GG>TT uc001don.2 + 4 615_616 c.511_512GG>TT c.(511-513)GGG>TTG p.G171L NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 171 integral to membrane hydrolase activity central_nervous_system(1) 1 CCATGACTGGGGGGGCATGATT 0.391 GBM(140;473 1857 5172 22066 49719) NA 21 126 0 0 0.004672 0 0 CDC14A 8556 broad.mit.edu 37 1 100950007 100950007 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:100950007G>T uc001dtg.3 + 11 1625 c.1137G>T c.(1135-1137)GAG>GAT p.E379D CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.E321D|CDC14A_uc001dte.3_Missense_Mutation_p.E379D|CDC14A_uc001dtf.2_Missense_Mutation_p.E379D|CDC14A_uc009wed.1_Missense_Mutation_p.E86D|CDC14A_uc009wee.2_Missense_Mutation_p.E379D NM_003672 NP_003663 Q9UNH5 CC14A_HUMAN CDC14 homolog A isoform 1 379 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1) 1 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) GATTTGGAGAGGTAAGTTTTC 0.358 NA 6 73 8.12818e-05 9.95791e-05 0.001984 1 0 AMY2B 280 broad.mit.edu 37 1 104116939 104116939 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:104116939G>T uc001duq.2 + 7 1418 c.802G>T c.(802-804)GTG>TTG p.V268L AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.V268L|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 268 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) AAATGGCCGGGTGACAGAATT 0.383 NA 22 557 8.24728e-16 1.36092e-15 0.004656 1 0 GPSM2 29899 broad.mit.edu 37 1 109445818 109445818 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:109445818A>G uc010ovc.1 + 9 1520 c.1024A>G c.(1024-1026)ATG>GTG p.M342V AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.M342V|GPSM2_uc010ove.1_Missense_Mutation_p.M342V NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 342 TPR 8. G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) TGATCAAGCAATGCATTTTGC 0.373 NA 3 33 0 0 0.004672 0 0 RSBN1 54665 broad.mit.edu 37 1 114354885 114354885 + Silent SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:114354885A>C uc001edq.2 - 1 186 c.150T>G c.(148-150)GCT>GCG p.A50A RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 50 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGACCTGCGCAGCCATTTCAC 0.687 NA 9 116 0 0 0.001368 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767783 143767783 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:143767783G>C uc001ejt.2 - 1 99 c.66C>G c.(64-66)ATC>ATG p.I22M NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 22 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 CAAACTGTTTGATGGAGATGC 0.498 NA 5 473 0 0 0.001984 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858839 149858839 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:149858839G>C uc001etd.2 + 1 315 c.315G>C c.(313-315)CAG>CAC p.Q105H HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 105 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCATCGCCCAGGGCGGCGTTT 0.522 NA 8 142 0 0 0.004482 0 0 HRNR 388697 broad.mit.edu 37 1 152193051 152193051 + Nonsense_Mutation SNP C C A rs140445785 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:152193051C>A uc001ezt.1 - 3 1130 c.1054G>T c.(1054-1056)GAG>TAG p.E352* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 352 3. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCAGACTCATGTTGCCCA 0.562 NA 37 180 1.96642e-18 3.30265e-18 0.006999 1 0 HRNR 388697 broad.mit.edu 37 1 152193307 152193307 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:152193307C>G uc001ezt.1 - 3 874 c.798G>C c.(796-798)CAG>CAC p.Q266H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 266 2. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTAGATGACTGTCCTGACC 0.557 NA 25 700 0 0 0.00278 0 0 FLG 2312 broad.mit.edu 37 1 152276015 152276015 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:152276015G>A uc001ezu.1 - 3 11383 c.11347C>T c.(11347-11349)CAC>TAC p.H3783Y NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3783 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCTGAGTGTCCAGACCTA 0.567 NA Ichthyosis 261 562 0 0 0.00361 0 0 FLG 2312 broad.mit.edu 37 1 152286475 152286475 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:152286475C>A uc001ezu.1 - 3 923 c.887G>T c.(886-888)AGA>ATA p.R296I uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 296 Filaggrin 1.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTAACTCTGGATCCCCT 0.512 NA Ichthyosis 85 557 2.75442e-36 4.73861e-36 0.00361 1 0 FLG2 388698 broad.mit.edu 37 1 152325867 152325867 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:152325867G>T uc001ezw.3 - 3 4468 c.4395C>A c.(4393-4395)CAC>CAA p.H1465Q uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1465 Filaggrin 5. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTAGTTCCGTGTCTCCCAT 0.502 NA 211 505 2.39235e-93 4.14089e-93 0.00361 1 0 CRNN 49860 broad.mit.edu 37 1 152382335 152382335 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:152382335G>T uc001ezx.2 - 3 1297 c.1223C>A c.(1222-1224)GCA>GAA p.A408E NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 408 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCAGTGCTTGCCCCAGTCTG 0.607 NA 37 92 9.17885e-22 1.56013e-21 0.003271 1 0 PGLYRP3 114771 broad.mit.edu 37 1 153270495 153270495 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:153270495G>T uc001fbn.1 - 7 1016 c.963C>A c.(961-963)AAC>AAA p.N321K NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 precursor 321 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGACAGGATGTTGACCACGT 0.597 NA 57 237 4.96213e-28 8.51081e-28 0.00361 1 0 FCRL1 115350 broad.mit.edu 37 1 157771368 157771368 + Splice_Site SNP C C A rs148618017 by1000genomes TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:157771368C>A uc001frg.2 - 6 1000 c.887_splice c.e6-1 p.V296_splice FCRL1_uc001frf.2_Splice_Site|FCRL1_uc001frh.2_Splice_Site_p.V296_splice|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCAGTAGGCACTAGAGGGAGA 0.552 GBM(54;482 1003 11223 30131 35730) NA 9 69 7.03913e-09 1.02158e-08 0.001368 1 0 OR10K2 391107 broad.mit.edu 37 1 158389821 158389821 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:158389821G>T uc010pii.1 - 1 836 c.836C>A c.(835-837)ACT>AAT p.T279N NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 279 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AGTTATAATAGTGTAGGATAC 0.378 NA 14 101 1.5842e-08 2.28157e-08 0.001855 1 0 OR10K2 391107 broad.mit.edu 37 1 158390091 158390091 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:158390091G>A uc010pii.1 - 1 566 c.566C>T c.(565-567)TCT>TTT p.S189F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GTTATGGTGAGATGCCAGCTT 0.438 NA 4 79 0 0 0.000248 0 0 OR10R2 343406 broad.mit.edu 37 1 158450078 158450078 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:158450078G>A uc010pik.1 + 1 411 c.411G>A c.(409-411)GTG>GTA p.V137V uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 137 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TATTGGGTGTGATGGGTTATG 0.478 NA 17 455 0 0 0.008871 0 0 OR10R2 343406 broad.mit.edu 37 1 158450652 158450652 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:158450652G>T uc010pik.1 + 1 985 c.985G>T c.(985-987)GGT>TGT p.G329C uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 329 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) GGGCAAGAAAGGTTCTCTAAA 0.308 NA 11 43 6.42651e-13 1.02752e-12 0.000978 1 0 OR6Y1 391112 broad.mit.edu 37 1 158517803 158517803 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:158517803G>T uc010pil.1 - 1 93 c.93C>A c.(91-93)CTC>CTA p.L31L NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGGAGAAAAAGAGAAGCTGGA 0.453 NA 18 73 5.03518e-11 7.74433e-11 0.007413 1 0 DCAF8 50717 broad.mit.edu 37 1 160210023 160210023 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:160210023C>T uc001fvo.2 - 4 499 c.187G>A c.(187-189)GAA>AAA p.E63K DCAF8_uc001fvn.2_Missense_Mutation_p.E63K|DCAF8_uc009wth.2_Missense_Mutation_p.E63K|DCAF8_uc010pjb.1_Missense_Mutation_p.E63K|DCAF8_uc010pjc.1_Missense_Mutation_p.E217K|DCAF8_uc001fvq.3_Missense_Mutation_p.E63K|DCAF8_uc001fvp.3_Missense_Mutation_p.E63K|uc010pjd.1_3'UTR NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 63 CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 CCTCGACTTTCTGTGCTGGTG 0.522 NA 4 70 0 0 0.000602 0 0 NCSTN 23385 broad.mit.edu 37 1 160313247 160313247 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:160313247C>T uc001fvx.2 + 1 185 c.61C>T c.(61-63)CTG>TTG p.L21L COPA_uc009wti.2_5'UTR|COPA_uc001fvv.3_5'UTR|COPA_uc009wtj.1_5'UTR|NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_5'UTR|NCSTN_uc010pjf.1_Silent_p.L21L NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 21 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTTCGCCTTCTGTCTTTCTG 0.667 NA 6 47 0 0 0.001168 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604432 160604432 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:160604432G>T uc001fwl.3 - 3 1017 c.671C>A c.(670-672)CCG>CAG p.P224Q SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 224 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TCCGGGCCACGGGCTGAAGGT 0.577 NA 30 117 2.42023e-17 4.02897e-17 0.003271 1 0 ABL2 27 broad.mit.edu 37 1 179095584 179095584 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:179095584C>A uc001gmj.3 - 4 902 c.615G>T c.(613-615)GGG>GGT p.G205G ABL2_uc010pnf.1_Silent_p.G205G|ABL2_uc010png.1_Silent_p.G184G|ABL2_uc010pnh.1_Silent_p.G184G|ABL2_uc009wxe.2_Silent_p.G184G|ABL2_uc001gmg.3_Silent_p.G190G|ABL2_uc001gmi.3_Silent_p.G190G|ABL2_uc001gmh.3_Silent_p.G169G|ABL2_uc010pne.1_Silent_p.G169G|ABL2_uc009wxf.1_Silent_p.G190G|ABL2_uc001gmk.2_Silent_p.G169G NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 205 SH2. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TGGACAGCTGCCCAGGGCTAC 0.537 NA T ETV6 AML 27 84 2.79863e-10 4.19054e-10 0.004656 1 0 C1orf125 126859 broad.mit.edu 37 1 179497545 179497545 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:179497545A>T uc001gmo.2 + 23 2821 c.2694A>T c.(2692-2694)GAA>GAT p.E898D C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E824D|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 898 Glu-rich. 0 CTCTATTTGAAACAGATGTGT 0.348 NA 16 26 0 0 0.00499 0 0 CEP350 9857 broad.mit.edu 37 1 179989875 179989875 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:179989875G>T uc001gnt.2 + 12 3349 c.2966G>T c.(2965-2967)AGT>ATT p.S989I CEP350_uc009wxl.2_Missense_Mutation_p.S988I|CEP350_uc001gnu.2_Missense_Mutation_p.S823I NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 989 centrosome|nucleus|spindle ovary(4) 4 CCTCTTCTTAGTGAGGGGAGT 0.433 NA 13 202 1.52009e-12 2.41677e-12 0.003163 1 0 GLT25D2 23127 broad.mit.edu 37 1 183909713 183909713 + Splice_Site SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:183909713A>T uc001gqr.2 - 11 1976 c.1604_splice c.e11+1 p.V535_splice GLT25D2_uc010poj.1_Splice_Site_p.V535_splice|GLT25D2_uc001gqp.2_Splice_Site_p.V143_splice|GLT25D2_uc001gqq.2_Splice_Site_p.V272_splice|GLT25D2_uc001gqs.2_Splice_Site_p.V415_splice NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 AGGGAGACTCACACGGGATGC 0.483 Esophageal Squamous(10;42 606 18489 38825) NA 8 87 0 0 0.004482 0 0 ASPM 259266 broad.mit.edu 37 1 197073257 197073257 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:197073257G>C uc001gtu.2 - 18 5381 c.5124C>G c.(5122-5124)ATC>ATG p.I1708M ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1708 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AACATTGCTGGATAAATAGTG 0.348 NA 3 118 0 0 0.004672 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200819110 200819110 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:200819110A>G uc001gvl.2 + 12 3516 c.3246A>G c.(3244-3246)GAA>GAG p.E1082E CAMSAP1L1_uc001gvk.2_Silent_p.E1071E|CAMSAP1L1_uc001gvm.2_Silent_p.E1055E NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1082 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CAGTCTCTGAAGTCCTATCAC 0.443 NA 19 90 0 0 0.006122 0 0 IGFN1 91156 broad.mit.edu 37 1 201182572 201182572 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:201182572G>T uc001gwc.2 + 1 803 c.31G>T c.(31-33)GGG>TGG p.G11W IGFN1_uc001gwb.2_Intron NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 AGAGAACTGGGGGTGCCTGGA 0.597 NA 5 45 0.000602214 0.000713082 0.000602 1 0 NAV1 89796 broad.mit.edu 37 1 201757598 201757598 + Missense_Mutation SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:201757598A>C uc001gwu.2 + 10 3345 c.2998A>C c.(2998-3000)AGT>CGT p.S1000R NAV1_uc001gwv.1_Missense_Mutation_p.S508R|NAV1_uc001gww.1_Missense_Mutation_p.S609R|NAV1_uc001gwx.2_Missense_Mutation_p.S609R|NAV1_uc001gwy.1_Missense_Mutation_p.S381R NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1000 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 ccttccAGTGAGTCCCACTGC 0.463 NA 9 88 0 0 0.006214 0 0 KCNK2 3776 broad.mit.edu 37 1 215342594 215342594 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:215342594C>G uc001hkq.2 + 4 697 c.528C>G c.(526-528)ATC>ATG p.I176M KCNK2_uc001hko.2_Missense_Mutation_p.I172M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.I161M NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 176 Helical; (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TCTGTATCATCTATGCCTTAC 0.249 NA 6 100 0 0 0.001984 0 0 TGFB2 7042 broad.mit.edu 37 1 218614594 218614594 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:218614594T>A uc001hlm.2 + 7 1788 c.1135T>A c.(1135-1137)TGC>AGC p.C379S TGFB2_uc001hln.2_Missense_Mutation_p.C407S|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 379 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) TGCTTCTCCTTGCTGCGTGTC 0.408 NA 8 133 0 0 0.00308 0 0 IARS2 55699 broad.mit.edu 37 1 220287811 220287811 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:220287811C>G uc001hmc.2 + 12 1739 c.1635C>G c.(1633-1635)ATC>ATG p.I545M NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 545 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) AATACTTGATCAACAGGTAGA 0.318 NA 20 97 0 0 0.008871 0 0 DUSP10 11221 broad.mit.edu 37 1 221912759 221912759 + Missense_Mutation SNP T T A rs148718278 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:221912759T>A uc001hmy.1 - 2 510 c.328A>T c.(328-330)ACC>TCC p.T110S DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 110 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) GGGCAGGTGGTAGAGGTTCCG 0.572 NA 9 18 0 0 0.006214 0 0 DISP1 84976 broad.mit.edu 37 1 223178675 223178676 + Missense_Mutation DNP GG GG TT TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:223178675_223178676GG>TT uc001hnu.1 + 8 4083_4084 c.3936_3937GG>TT c.(3934-3939)GTGGCA>GTTTCA p.A1313S NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1313 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AAAACGGCGTGGCACCTCTGAA 0.589 NA 19 82 0 0 0.004672 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227257519 227257519 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:227257519C>G uc001hqr.2 - 21 3806 c.2863G>C c.(2863-2865)GCA>CCA p.A955P CDC42BPA_uc001hqq.2_Missense_Mutation_p.A219P|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A874P|CDC42BPA_uc009xes.2_Missense_Mutation_p.A955P|CDC42BPA_uc010pvs.1_Intron|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A111P|CDC42BPA_uc001hqu.1_Missense_Mutation_p.A111P NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 955 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TTCAAAAATGCCAAGAAAGAA 0.338 NA 3 48 0 0 0.000248 0 0 MRPL55 128308 broad.mit.edu 37 1 228294558 228294558 + Missense_Mutation SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:228294558T>C uc001hry.2 - 3 1034 c.290A>G c.(289-291)GAG>GGG p.E97G MRPL55_uc001hrz.3_Missense_Mutation_p.E133G|MRPL55_uc009xex.2_Missense_Mutation_p.E97G|MRPL55_uc001hsa.3_Missense_Mutation_p.E97G|MRPL55_uc001hsb.3_Missense_Mutation_p.E97G|MRPL55_uc001hsc.3_Missense_Mutation_p.E97G|MRPL55_uc001hsd.3_Missense_Mutation_p.E97G|MRPL55_uc001hse.3_Missense_Mutation_p.E97G|MRPL55_uc001hsf.3_Missense_Mutation_p.E97G|MRPL55_uc001hsg.3_Missense_Mutation_p.E97G NM_181465 NP_852130 Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 isoform a 97 translation mitochondrial large ribosomal subunit structural constituent of ribosome central_nervous_system(1) 1 Prostate(94;0.0405) GAGCTGAGCCTCACGCTTCCG 0.597 NA 6 64 0 0 0.001168 0 0 OBSCN 84033 broad.mit.edu 37 1 228479799 228479799 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:228479799G>T uc009xez.1 + 39 10584 c.10540G>T c.(10540-10542)GAC>TAC p.D3514Y OBSCN_uc001hsn.2_Missense_Mutation_p.D3514Y|OBSCN_uc001hsq.1_Missense_Mutation_p.D770Y NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3514 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGCCATGGCGGACGCCGGGGA 0.622 NA 22 92 2.89027e-11 4.45747e-11 0.002299 1 0 URB2 9816 broad.mit.edu 37 1 229771836 229771836 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:229771836G>T uc001hts.1 + 4 1612 c.1476G>T c.(1474-1476)TCG>TCT p.S492S URB2_uc009xfd.1_Silent_p.S492S NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 492 nucleolus central_nervous_system(2)|ovary(1) 3 TGCTGGCCTCGGGCCCCTCCA 0.577 NA 15 174 0.000422831 0.000507039 0.004007 1 0 PCNXL2 80003 broad.mit.edu 37 1 233225832 233225832 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:233225832C>A uc001hvl.2 - 23 4286 c.4051G>T c.(4051-4053)GTG>TTG p.V1351L PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_Intron NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1351 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) CAGAATTTCACTGGCCTGACA 0.423 NA 22 64 2.70639e-06 3.59582e-06 0.002299 1 0 EXO1 9156 broad.mit.edu 37 1 242042435 242042435 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:242042435C>T uc001hzh.2 + 13 2439 c.1899C>T c.(1897-1899)TTC>TTT p.F633F EXO1_uc001hzi.2_Silent_p.F633F|EXO1_uc001hzj.2_Silent_p.F633F|EXO1_uc009xgq.2_Silent_p.F632F NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 633 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TGCAGCAGTTCCGAAGAAAGA 0.488 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 8 94 0 0 0.00308 0 0 OR2T33 391195 broad.mit.edu 37 1 248436663 248436663 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:248436663C>G uc010pzi.1 - 1 454 c.454G>C c.(454-456)GCT>CCT p.A152P NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGCCCGTCAGCTGCACCCAGG 0.587 NA 23 126 0 0 0.007291 0 0 OR2T4 127074 broad.mit.edu 37 1 248525228 248525228 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:248525228G>T uc001ieh.1 + 1 346 c.346G>T c.(346-348)GAC>TAC p.D116Y NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 116 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGCTCCTGGACCAGGTCAT 0.498 NA 19 333 4.96729e-08 6.99375e-08 0.008871 1 0 TUBB8 347688 broad.mit.edu 37 10 93572 93573 + Missense_Mutation DNP CC CC AG TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:93572_93573CC>AG uc001ifi.2 - 4 759_760 c.759_760GG>CT c.(757-762)CTGGCC>CTCTCC p.A254S TUBB8_uc009xhe.2_Missense_Mutation_p.A217S|TUBB8_uc010pzs.1_Missense_Mutation_p.A182S NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 254 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) ATGTTCACGGCCAGCTTCCGCA 0.639 Pancreas(192;2041 3010 9013 18103) NA 4 41 0 0 0.004672 0 0 ARMC3 219681 broad.mit.edu 37 10 23270395 23270395 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:23270395G>T uc001irm.3 + 9 1126 c.1043G>T c.(1042-1044)GGC>GTC p.G348V ARMC3_uc010qcv.1_Missense_Mutation_p.G348V|ARMC3_uc010qcw.1_Missense_Mutation_p.G85V NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 348 ARM 9. binding 0 GAGAATTCAGGCAGCAAAGAT 0.373 NA 11 64 9.31168e-06 1.20604e-05 0.001855 1 0 ENKUR 219670 broad.mit.edu 37 10 25284575 25284575 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:25284575C>G uc001isg.1 - 3 612 c.447G>C c.(445-447)AAG>AAC p.K149N ENKUR_uc001ish.1_Missense_Mutation_p.K87N NM_145010 NP_659447 Q8TC29 ENKUR_HUMAN enkurin 149 cilium|flagellum calmodulin binding|SH3 domain binding 0 ACAAGGCTACCTTTTTATTGA 0.338 NA 33 155 0 0 0.002096 0 0 MYO3A 53904 broad.mit.edu 37 10 26463396 26463396 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:26463396G>T uc001isn.2 + 30 4563 c.4203G>T c.(4201-4203)GAG>GAT p.E1401D MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1401 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 CAAAACATGAGGAAATCAATA 0.358 NA 21 92 1.55795e-14 2.5412e-14 0.001882 1 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650878 43650878 + Missense_Mutation SNP G G T rs150048164 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:43650878G>T uc001jan.2 + 2 616 c.281G>T c.(280-282)CGG>CTG p.R94L CSGALNACT2_uc001jam.1_Missense_Mutation_p.R94L NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 94 Lumenal (Potential).|Potential. chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 GAGAAGATGCGGTCACTGCAA 0.423 NA 14 46 1.05317e-09 1.55638e-09 0.00245 1 0 GDF2 2658 broad.mit.edu 37 10 48414410 48414410 + Missense_Mutation SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:48414410T>C uc001jfa.1 - 2 621 c.458A>G c.(457-459)TAT>TGT p.Y153C NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 153 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 ACAGGAGACATAGAGTCGGAG 0.493 NA 9 56 0 0 0.004482 0 0 DNA2 1763 broad.mit.edu 37 10 70231550 70231550 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:70231550C>G uc001jof.2 - 1 330 c.330G>C c.(328-330)GAG>GAC p.E110D DNA2_uc001jog.1_Missense_Mutation_p.E24D|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 24 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 CCGCTCACAGCTCCGCCGGCA 0.632 NA 4 29 0 0 0.000248 0 0 KIAA1274 27143 broad.mit.edu 37 10 72292490 72292490 + Silent SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:72292490G>C uc001jrd.3 + 6 1028 c.747G>C c.(745-747)GTG>GTC p.V249V NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 249 ovary(2)|central_nervous_system(1) 3 ACTTGCATGTGACGGAGGAGG 0.627 NA 15 103 0 0 0.00499 0 0 PRF1 5551 broad.mit.edu 37 10 72360525 72360525 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:72360525C>A uc009xqg.2 - 2 295 c.134G>T c.(133-135)GGG>GTG p.G45V PRF1_uc001jrf.3_Missense_Mutation_p.G45V NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 45 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CACACCCTCCCCGGCCAGCCA 0.677 NA M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 7 58 0.00307968 0.0035357 0.00308 1 0 CDH23 64072 broad.mit.edu 37 10 73548714 73548714 + Silent SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:73548714G>C uc001jrx.3 + 43 6215 c.5838G>C c.(5836-5838)CTG>CTC p.L1946L NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1946 Cadherin 18.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ACTTGCTTCTGATCTTCCTTT 0.557 NA 9 40 0 0 0.004482 0 0 CDH23 64072 broad.mit.edu 37 10 73548780 73548780 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:73548780G>A uc001jrx.3 + 43 6281 c.5904G>A c.(5902-5904)GTG>GTA p.V1968V NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1968 Cadherin 19.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 AGGCAGAGGTGATGGAAAACT 0.567 NA 10 34 0 0 0.001368 0 0 PDE6C 5146 broad.mit.edu 37 10 95421882 95421882 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:95421882C>A uc001kiu.3 + 19 2413 c.2275C>A c.(2275-2277)CAA>AAA p.Q759K NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 759 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) GTTGCAGCAACAACCCATTGT 0.294 NA 3 44 0.004672 0.00530994 0.004672 1 0 CYP2C19 1557 broad.mit.edu 37 10 96612523 96612523 + Missense_Mutation SNP G G T rs138112316 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:96612523G>T uc010qnz.1 + 9 1325 c.1325G>T c.(1324-1326)CGC>CTC p.R442L CYP2C19_uc010qny.1_Missense_Mutation_p.R420L NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 442 R -> C (in allele CYP2C19*16; lowered catalytic activity). exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GGCCTGGCCCGCATGGAGCTG 0.433 NA 8 112 7.48243e-07 1.01075e-06 0.006214 1 0 MGEA5 10724 broad.mit.edu 37 10 103547259 103547259 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:103547259C>T uc001ktv.2 - 15 2919 c.2476G>A c.(2476-2478)GAA>AAA p.E826K MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.E773K|MGEA5_uc009xws.2_Missense_Mutation_p.E759K NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 826 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TCCTGTTCTTCATGGAAACTC 0.363 NA 6 90 0 0 0.001168 0 0 PNLIP 5406 broad.mit.edu 37 10 118314905 118314905 + Nonsense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:118314905G>T uc001lcm.2 + 8 740 c.697G>T c.(697-699)GGA>TGA p.G233* NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 233 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TTCAGGGTTTGGAATGAGCCA 0.423 NA 6 73 0.00198382 0.0022822 0.001984 1 0 FAM45A 404636 broad.mit.edu 37 10 120889070 120889070 + Silent SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:120889070A>C uc001ldw.2 + 7 782 c.738A>C c.(736-738)CCA>CCC p.P246P FAM45A_uc010qsv.1_Silent_p.P238P|FAM45A_uc010qsw.1_Silent_p.P95P|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Silent_p.P173P|FAM45A_uc010qsz.1_Silent_p.P135P NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN hypothetical protein LOC404636 246 ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) GCAACAGACCAGACCTCTATG 0.433 NA 4 53 0 0 0.000248 0 0 MKI67 4288 broad.mit.edu 37 10 129905011 129905011 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:129905011C>G uc001lke.2 - 13 5288 c.5093G>C c.(5092-5094)AGA>ACA p.R1698T MKI67_uc001lkf.2_Missense_Mutation_p.R1338T|MKI67_uc009yav.1_Missense_Mutation_p.R1273T|MKI67_uc009yaw.1_Missense_Mutation_p.R848T NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1698 6.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTAGGAGTTCTCAGCTGCCT 0.478 NA 9 76 0 0 0.004482 0 0 MKI67 4288 broad.mit.edu 37 10 129913540 129913540 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:129913540C>A uc001lke.2 - 7 1327 c.1132G>T c.(1132-1134)GGT>TGT p.G378C MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 378 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCACTTTTACCCAGATTCACA 0.398 NA 12 131 1.61879e-10 2.4368e-10 0.001368 1 0 JAKMIP3 282973 broad.mit.edu 37 10 133948583 133948583 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:133948583G>T uc001lkx.3 + 4 888 c.888G>T c.(886-888)CAG>CAT p.Q296H NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGCGCTTCCAGCTTAAAATCG 0.512 NA 5 40 0.000602214 0.000713082 0.000602 1 0 FRG2B 441581 broad.mit.edu 37 10 135440223 135440223 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr10:135440223G>T uc010qvg.1 - 1 77 c.24C>A c.(22-24)CCC>CCA p.P8P NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 8 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AGTGGAGATCGGGGTCTTCAT 0.507 NA 6 316 2.62699e-14 4.27263e-14 0.003163 1 0 MUC5B 727897 broad.mit.edu 37 11 1263496 1263496 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:1263496G>A uc009ycr.1 + 47 7591 c.7465G>A c.(7465-7467)GTG>ATG p.V2489M MUC5B_uc001ltb.2_Missense_Mutation_p.V1799M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1796 7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 3. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGGTTTGACGTGGACTTCCC 0.572 NA 7 61 0 0 0.00308 0 0 OR51G1 79324 broad.mit.edu 37 11 4944910 4944910 + Nonsense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:4944910G>T uc010qyr.1 - 1 660 c.660C>A c.(658-660)TAC>TAA p.Y220* NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATGAGGGCGTATGAGAGAA 0.547 NA 13 57 4.36969e-10 6.49146e-10 0.001855 1 0 OR52E2 119678 broad.mit.edu 37 11 5080148 5080148 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:5080148T>A uc010qyw.1 - 1 710 c.710A>T c.(709-711)AAG>ATG p.K237M NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GCTGAGGGACTTGAGTCGGGC 0.453 NA 16 47 0 0 0.004007 0 0 APBB1 322 broad.mit.edu 37 11 6423818 6423818 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:6423818C>A uc001mdb.1 - 7 1342 c.1242G>T c.(1240-1242)GGG>GGT p.G414G APBB1_uc001mcz.1_Silent_p.G35G|APBB1_uc001mdd.3_Silent_p.G194G|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Silent_p.G414G|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Silent_p.G35G|APBB1_uc010rae.1_Silent_p.G179G|APBB1_uc010raf.1_Silent_p.G155G|APBB1_uc009yfa.2_Silent_p.G155G|APBB1_uc009yey.2_Silent_p.G155G|APBB1_uc010rag.1_Silent_p.G155G|APBB1_uc009yfb.2_Silent_p.G155G|APBB1_uc001mde.2_Silent_p.G155G|APBB1_uc010rah.1_Silent_p.G155G NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 414 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCCCCCAGCCCCCAGACATGG 0.582 GBM(147;1810 2556 5672 39622) NA 22 86 1.50039e-11 2.32663e-11 0.001882 1 0 HPX 3263 broad.mit.edu 37 11 6458780 6458780 + Missense_Mutation SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:6458780T>C uc001mdg.2 - 6 654 c.593A>G c.(592-594)TAC>TGC p.Y198C HPX_uc001mdf.2_5'UTR|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 198 Hemopexin-like 3. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GAAGCAGTAGTAGCGGCCCAG 0.617 NA 10 46 0 0 0.006214 0 0 ZNF214 7761 broad.mit.edu 37 11 7022175 7022175 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:7022175A>G uc001mfa.2 - 3 1042 c.739T>C c.(739-741)TGT>CGT p.C247R ZNF214_uc010ray.1_Missense_Mutation_p.C247R|ZNF214_uc009yfh.1_Missense_Mutation_p.C247R NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GAGCATTGACAGAGGTTTTCT 0.383 Ovarian(22;251 657 736 21522 46864) NA 11 113 0 0 0.001368 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838765 16838765 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:16838765C>A uc001mmo.2 - 11 1463 c.1448G>T c.(1447-1449)GGC>GTC p.G483V PLEKHA7_uc010rcu.1_Missense_Mutation_p.G483V|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G57V|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G191V NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 483 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 TGGCGAGGAGCCCCCCGAGGG 0.637 NA 24 104 3.6726e-16 6.07805e-16 0.003954 1 0 SAA2 6289 broad.mit.edu 37 11 18269519 18269519 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:18269519G>C uc001mnz.3 - 2 77 c.40C>G c.(40-42)CTG>GTG p.L14V SAA2_uc009yhj.2_Missense_Mutation_p.L14V NM_030754 NP_110381 P02735 SAA_HUMAN serum amyloid A2 isoform a 14 acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding 0 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CTGACACTCAGGACCAAGGAG 0.522 NA 15 80 0 0 0.003163 0 0 DCDC1 341019 broad.mit.edu 37 11 31329387 31329387 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:31329387C>A uc001msv.2 - 4 435 c.233G>T c.(232-234)GGC>GTC p.G78V DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 78 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TCTGTTGGGGCCAAACTGAGA 0.413 NA 33 155 1.56442e-22 2.66705e-22 0.002445 1 0 OR4C13 283092 broad.mit.edu 37 11 49974366 49974366 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:49974366C>A uc010rhz.1 + 1 392 c.392C>A c.(391-393)ACC>AAC p.T131N NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TTGCACTATACCACCGTCATG 0.458 NA 13 83 0.00010058 0.000122955 0.001368 1 0 OR4C46 119749 broad.mit.edu 37 11 51515475 51515475 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:51515475C>A uc010ric.1 + 1 194 c.194C>A c.(193-195)TCC>TAC p.S65Y NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GCCTATCTCTCCTTTATTGAT 0.473 NA 14 299 1.02788e-11 1.60271e-11 0.00499 1 0 OR4C16 219428 broad.mit.edu 37 11 55340043 55340043 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:55340043G>T uc010rih.1 + 1 440 c.440G>T c.(439-441)TGG>TTG p.W147L NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GCTGTGGCCTGGGTGGGATCC 0.498 NA 51 178 2.43468e-25 4.16323e-25 0.00361 1 0 OR5J2 282775 broad.mit.edu 37 11 55944982 55944982 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:55944982G>T uc010rjb.1 + 1 889 c.889G>T c.(889-891)GTA>TTA p.V297L NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) AAACAAGGACGTAAAGGAGGC 0.383 NA 10 34 3.86212e-05 4.81489e-05 0.008291 1 0 CTNND1 1500 broad.mit.edu 37 11 57564429 57564429 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:57564429G>T uc001nmc.3 + 6 1492 c.921G>T c.(919-921)CGG>CGT p.R307R CTNND1_uc001nlf.1_Silent_p.R307R|CTNND1_uc001nlh.1_Silent_p.R307R|CTNND1_uc001nlu.3_Silent_p.R206R|CTNND1_uc001nlt.3_Silent_p.R206R|CTNND1_uc001nls.3_Silent_p.R206R|CTNND1_uc001nlw.3_Silent_p.R206R|CTNND1_uc001nmf.3_Silent_p.R307R|CTNND1_uc001nmd.3_Silent_p.R253R|CTNND1_uc001nlk.3_Silent_p.R253R|CTNND1_uc001nme.3_Silent_p.R307R|CTNND1_uc001nll.3_Silent_p.R253R|CTNND1_uc001nmg.3_Silent_p.R253R|CTNND1_uc001nlj.3_Silent_p.R253R|CTNND1_uc001nlr.3_Silent_p.R253R|CTNND1_uc001nlp.3_Silent_p.R253R|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Silent_p.R307R|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Silent_p.R206R|CTNND1_uc001nmh.3_Silent_p.R307R|CTNND1_uc001nlq.3_Silent_p.R206R|CTNND1_uc001nln.3_Silent_p.R307R|CTNND1_uc001nli.3_Silent_p.R307R|CTNND1_uc001nlo.3_Silent_p.R206R|CTNND1_uc001nlv.3_Silent_p.R206R NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 307 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) CTGCCCGTCGGACTGGGACAC 0.532 NA 22 65 2.39556e-15 3.93011e-15 0.00278 1 0 OR5AN1 390195 broad.mit.edu 37 11 59132182 59132182 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:59132182C>A uc010rks.1 + 1 251 c.251C>A c.(250-252)TCC>TAC p.S84Y NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AAGATGCTCTCCAACCTCTTA 0.428 NA 39 145 1.49673e-21 2.53638e-21 0.00623 1 0 SPDYC 387778 broad.mit.edu 37 11 64939753 64939753 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:64939753G>A uc010rnz.1 + 4 295 c.295G>A c.(295-297)GCC>ACC p.A99T NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 99 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding 0 CTTCCAGCGCGCCCACCTGAA 0.602 NA 4 76 0 0 0.000248 0 0 CTSF 8722 broad.mit.edu 37 11 66335003 66335003 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:66335003A>G uc001oip.2 - 3 533 c.443T>C c.(442-444)ATT>ACT p.I148T NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 148 proteolysis lysosome cysteine-type endopeptidase activity 0 CAGAGAAGAAATCATGGCTGA 0.557 NA 12 99 0 0 0.001368 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062549 76062549 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:76062549G>C uc001oxh.1 - 5 1645 c.1645C>G c.(1645-1647)CAA>GAA p.Q549E PRKRIR_uc010rrz.1_Missense_Mutation_p.Q374E NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 549 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 AGTTTCATTTGAATATCAAGT 0.403 NA 3 42 0 0 0.000248 0 0 USP35 57558 broad.mit.edu 37 11 77921493 77921493 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:77921493C>T uc009yva.1 + 10 2838 c.2592C>T c.(2590-2592)TAC>TAT p.Y864Y USP35_uc001oze.2_Silent_p.Y620Y|USP35_uc001ozc.2_Silent_p.Y432Y|USP35_uc010rsp.1_Silent_p.Y296Y|USP35_uc001ozd.2_Silent_p.Y475Y|USP35_uc001ozf.2_Silent_p.Y595Y NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 864 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GTCACTACTACTGCTATGCCC 0.632 NA 8 131 0 0 0.004482 0 0 ODZ4 26011 broad.mit.edu 37 11 78381548 78381548 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:78381548C>T uc001ozl.3 - 32 6305 c.5842G>A c.(5842-5844)GAC>AAC p.D1948N ODZ4_uc001ozk.3_Missense_Mutation_p.D173N|ODZ4_uc009yvb.1_Missense_Mutation_p.D532N NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1948 YD 7.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 TCATTCTTGTCGAACTCAAAG 0.537 NA 13 61 0 0 0.001855 0 0 DDI1 414301 broad.mit.edu 37 11 103908282 103908282 + Silent SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:103908282C>G uc001phr.2 + 1 975 c.732C>G c.(730-732)CTC>CTG p.L244L PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 244 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGACGATGCTCTACATTAACT 0.468 NA 27 131 0 0 0.008361 0 0 APOC3 345 broad.mit.edu 37 11 116701581 116701581 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:116701581G>C uc001ppt.1 + 3 194 c.148G>C c.(148-150)GTG>CTG p.V50L NM_000040 NP_000031 P02656 APOC3_HUMAN apolipoprotein C-III precursor 50 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ACTGAGCAGCGTGCAGGAGTC 0.657 GBM(81;259 1650 7161 35190) NA 4 40 0 0 0.000248 0 0 CEP164 22897 broad.mit.edu 37 11 117279605 117279605 + Splice_Site SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:117279605G>T uc001prc.2 + 29 3757 c.3610_splice c.e29-1 p.A1204_splice CEP164_uc001prb.2_Splice_Site_p.A1207_splice|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_Splice_Site|CEP164_uc001prg.1_Splice_Site_p.A637_splice NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) TTACCCCACAGGCCTCAGATG 0.527 NA 6 34 2.7689e-08 3.92781e-08 0.001984 1 0 OR10S1 219873 broad.mit.edu 37 11 123847504 123847504 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:123847504G>C uc001pzm.1 - 1 895 c.895C>G c.(895-897)CCA>GCA p.P299A NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 299 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TAAATGAATGGGTTGAGCATT 0.547 NA 13 83 0 0 0.001368 0 0 NCAPD3 23310 broad.mit.edu 37 11 134063940 134063941 + Missense_Mutation DNP CC CC GA TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:134063940_134063941CC>GA uc001qhd.1 - 15 2400_2401 c.1794_1795GG>TC c.(1792-1797)CAGGCC>CATCCC p.598_599QA>HP NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 598_599 HEAT 3. cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GACTGGAGGGCCTGCTTCCGGA 0.441 NA 11 46 0 0 0.004672 0 0 Unknown 0 broad.mit.edu 37 12 92000 92000 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:92000A>T uc010sdi.1 - 2 338 c.310T>A c.(310-312)TTG>ATG p.L104M uc010sdj.1_RNA SubName: Full=DEAD/H box polypeptide 11 like 11; NA GGTCCTGGCAACACTCTGGAC 0.572 NA 4 7 0 0 0.000248 0 0 KCNA5 3741 broad.mit.edu 37 12 5153913 5153913 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:5153913A>G uc001qni.2 + 1 829 c.600A>G c.(598-600)ATA>ATG p.I200M NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 200 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CGGACGAGATACGCTTCTACC 0.637 NA 4 46 0 0 0.000248 0 0 VWF 7450 broad.mit.edu 37 12 6120900 6120901 + Missense_Mutation DNP GG GG TT TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:6120900_6120901GG>TT uc001qnn.1 - 34 5974_5975 c.5724_5725CC>AA c.(5722-5727)GGCCAG>GGAAAG p.Q1909K VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1909 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGCAAGGTCTGGCCATCTGGCT 0.579 NA 4 52 0 0 0.004672 0 0 CD163L1 283316 broad.mit.edu 37 12 7528081 7528081 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:7528081C>T uc001qsy.2 - 11 2823 c.2797G>A c.(2797-2799)GAT>AAT p.D933N CD163L1_uc010sge.1_Missense_Mutation_p.D943N NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 933 SRCR 9.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ACACGGGCATCTTCTGGGTCC 0.532 NA 8 39 0 0 0.004482 0 0 CLEC4E 26253 broad.mit.edu 37 12 8688715 8688715 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:8688715C>T uc001quo.1 - 5 624 c.459G>A c.(457-459)GTG>GTA p.V153V NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 153 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) GTGTGCCGTCCACCCATTGCC 0.433 NA 8 67 0 0 0.004482 0 0 PHC1 1911 broad.mit.edu 37 12 9089500 9089500 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:9089500A>T uc001qvd.2 + 12 2573 c.2417A>T c.(2416-2418)TAC>TTC p.Y806F PHC1_uc001qve.2_Missense_Mutation_p.Y806F NM_004426 NP_004417 P78364 PHC1_HUMAN polyhomeotic 1-like 806 FCS-type. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|breast(1) 2 TGTGGGAAGTACGCCCCCGCA 0.527 NA 4 33 0 0 0.000248 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720066 13720066 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:13720066G>T uc001rbt.2 - 12 2670 c.2491C>A c.(2491-2493)CTC>ATC p.L831I NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 831 Helical; (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGAGGCTGAGAGCCATGGCC 0.512 NA 21 66 1.55795e-14 2.5412e-14 0.001882 1 0 LST-3TM12 338821 broad.mit.edu 37 12 21196363 21196363 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:21196363C>A uc010sin.1 + 6 682 c.682C>A c.(682-684)CCA>ACA p.P228T SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.P275T NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 228 membrane transporter activity 0 TTCTTCTATACCATTCTTTTT 0.363 NA 6 114 5.18039e-06 6.7716e-06 0.00308 1 0 CAPRIN2 65981 broad.mit.edu 37 12 30881654 30881655 + Missense_Mutation DNP CC CC AA TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:30881654_30881655CC>AA uc001rji.1 - 8 2460_2461 c.1709_1710GG>TT c.(1708-1710)TGG>TTT p.W570F CAPRIN2_uc001rjf.1_Missense_Mutation_p.W367F|CAPRIN2_uc001rjg.1_Missense_Mutation_p.W237F|CAPRIN2_uc001rjh.1_Missense_Mutation_p.W570F|CAPRIN2_uc001rjj.1_Missense_Mutation_p.W237F|CAPRIN2_uc001rjk.3_Missense_Mutation_p.W570F|CAPRIN2_uc001rjl.3_Missense_Mutation_p.W570F|CAPRIN2_uc001rjm.1_Missense_Mutation_p.W237F|CAPRIN2_uc001rjn.1_Missense_Mutation_p.W237F NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 570 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TAGCTACTCCCCAGGACTTTGG 0.441 NA 13 85 0 0 0.004672 0 0 C12orf40 283461 broad.mit.edu 37 12 40114727 40114727 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:40114727G>A uc001rmc.2 + 13 1800 c.1633G>A c.(1633-1635)GAC>AAC p.D545N C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 545 ovary(6) 6 TAAAAACGATGACAAAATTCA 0.338 NA 8 92 0 0 0.00308 0 0 LRRK2 120892 broad.mit.edu 37 12 40707882 40707882 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:40707882G>A uc001rmg.3 + 32 4766 c.4645G>A c.(4645-4647)GAC>AAC p.D1549N LRRK2_uc009zjw.2_Missense_Mutation_p.D387N|LRRK2_uc001rmi.2_Missense_Mutation_p.D382N NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1549 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCCCGTAATTGACCGGAAACG 0.383 NA 6 60 0 0 0.001168 0 0 OR8S1 341568 broad.mit.edu 37 12 48919525 48919525 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:48919525G>T uc010slu.1 + 1 111 c.111G>T c.(109-111)CTG>CTT p.L37L NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTTACCTCCTGACCATAATGG 0.512 NA 20 196 0.000175454 0.000212195 0.001523 1 0 LIMA1 51474 broad.mit.edu 37 12 50589612 50589612 + Splice_Site SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:50589612C>T uc001rwj.3 - 8 1204 c.1030_splice c.e8+1 p.R344_splice LIMA1_uc001rwg.3_Splice_Site_p.R42_splice|LIMA1_uc001rwh.3_Splice_Site_p.R184_splice|LIMA1_uc001rwi.3_Splice_Site_p.P184_splice|LIMA1_uc001rwk.3_Splice_Site_p.P344_splice|LIMA1_uc010smr.1_Splice_Site|LIMA1_uc010sms.1_Splice_Site NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 AGAATGCTTACGGGAGTCATC 0.398 NA 7 101 0 0 0.00308 0 0 OR9K2 441639 broad.mit.edu 37 12 55523851 55523851 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:55523851C>G uc010spe.1 + 1 299 c.299C>G c.(298-300)TCT>TGT p.S100C NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 100 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 TTCTATTCATCTGTTATTGAA 0.418 NA 15 205 0 0 0.00245 0 0 KIF5A 3798 broad.mit.edu 37 12 57974797 57974797 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:57974797G>T uc001sor.1 + 24 2805 c.2597G>T c.(2596-2598)AGG>ATG p.R866M KIF5A_uc010srr.1_Missense_Mutation_p.R777M NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 866 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 AAACGACTTAGGGCTACGGCT 0.562 NA 9 47 0.000442599 0.000528505 0.006214 1 0 KCNC2 3747 broad.mit.edu 37 12 75444222 75444222 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:75444222C>G uc001sxg.1 - 3 2107 c.1563G>C c.(1561-1563)CAG>CAC p.Q521H KCNC2_uc009zry.2_Missense_Mutation_p.Q521H|KCNC2_uc001sxe.2_Missense_Mutation_p.Q521H|KCNC2_uc001sxf.2_Missense_Mutation_p.Q521H|KCNC2_uc010stw.1_Missense_Mutation_p.Q521H NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 521 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 ATGTGTCACTCTGTGTACTAT 0.413 NA 12 133 0 0 0.00245 0 0 KCNC2 3747 broad.mit.edu 37 12 75444888 75444888 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:75444888G>A uc001sxg.1 - 3 1441 c.897C>T c.(895-897)GTC>GTT p.V299V KCNC2_uc009zry.2_Silent_p.V299V|KCNC2_uc001sxe.2_Silent_p.V299V|KCNC2_uc001sxf.2_Silent_p.V299V|KCNC2_uc010stw.1_Silent_p.V299V NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 299 Helical; Name=Segment S2; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 AAACAATACGGACTAAAAATT 0.378 NA 10 65 0 0 0.000978 0 0 SLC6A15 55117 broad.mit.edu 37 12 85285712 85285712 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:85285712G>C uc001szv.2 - 2 681 c.188C>G c.(187-189)GCT>GGT p.A63G SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.A63G NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 63 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 ACTGTTCCAAGCTGGTCTTTC 0.418 NA 13 131 0 0 0.001368 0 0 BTBD11 121551 broad.mit.edu 37 12 107937905 107937905 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:107937905C>A uc001tmk.1 + 3 2000 c.1479C>A c.(1477-1479)CTC>CTA p.L493L BTBD11_uc009zut.1_Silent_p.L493L|BTBD11_uc001tmj.2_Silent_p.L493L NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 493 integral to membrane DNA binding skin(2)|ovary(1) 3 AAGTCAACCTCCAGGTGGAAA 0.567 NA 5 33 3.59834e-05 4.51587e-05 0.001168 1 0 BTBD11 121551 broad.mit.edu 37 12 108042999 108042999 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:108042999T>A uc001tmk.1 + 15 3460 c.2939T>A c.(2938-2940)CTC>CAC p.L980H BTBD11_uc001tmj.2_Missense_Mutation_p.L980H|BTBD11_uc001tml.1_Missense_Mutation_p.L517H|BTBD11_uc001tmm.1_Missense_Mutation_p.L59H NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 980 BTB. integral to membrane DNA binding skin(2)|ovary(1) 3 ATGCAGTATCTCTACTATGGT 0.473 NA 8 90 0 0 0.004482 0 0 SVOP 55530 broad.mit.edu 37 12 109306415 109306415 + Nonsense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:109306415G>A uc010sxh.1 - 15 1715 c.1543C>T c.(1543-1545)CGA>TGA p.R515* NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN SV2 related protein 515 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity 0 TGCAGTCCTCGGCCTTTGGTC 0.607 NA 8 87 0 0 0.004482 0 0 GPR109A 338442 broad.mit.edu 37 12 123186931 123186931 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:123186931G>T uc001ucx.1 - 1 974 c.900C>A c.(898-900)TCC>TCA p.S300S GPR81_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN G protein-coupled receptor 109A 300 Cytoplasmic (Potential). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) AGTTGGGAAAGGATGGGCTGG 0.542 NA 11 75 0.000673444 0.000794103 0.008291 1 0 AACS 65985 broad.mit.edu 37 12 125613889 125613889 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:125613889G>T uc001uhc.2 + 14 1638 c.1432G>T c.(1432-1434)GTC>TTC p.V478F AACS_uc001uhd.2_Missense_Mutation_p.V478F|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Missense_Mutation_p.V76F NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 478 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) AGGAAAGGCGGTCTGGGGAGA 0.507 NA 25 143 5.35047e-06 6.9778e-06 0.00333 1 0 TMEM132D 121256 broad.mit.edu 37 12 129559047 129559047 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:129559047C>A uc009zyl.1 - 9 3001 c.2673G>T c.(2671-2673)CAG>CAT p.Q891H TMEM132D_uc001uia.2_Missense_Mutation_p.Q429H NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 891 Extracellular (Potential). integral to membrane p.Q891*(1) ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGAGGTCCACCTGGGCTGGGA 0.527 NA 9 62 0.00621372 0.00704802 0.006214 1 0 FZD10 11211 broad.mit.edu 37 12 130648268 130648268 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:130648268C>T uc001uii.2 + 1 1237 c.781C>T c.(781-783)CGC>TGC p.R261C uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 261 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CTACCCCGAGCGCCCCATCAT 0.657 NA 12 109 0 0 0.001855 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748131 19748131 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr13:19748131C>A uc009zzj.2 - 5 1274 c.1225G>T c.(1225-1227)GTG>TTG p.V409L NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 409 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCTTCTCCCACGTACCAGTGC 0.607 NA 17 134 0.00400662 0.00459059 0.004007 1 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679325 37679325 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr13:37679325G>C uc001uwm.1 - 1 477 c.69C>G c.(67-69)ATC>ATG p.I23M NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 23 ATP (By similarity).|Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) AGCCAGACCCGATCTTCCGCA 0.557 NA 3 101 0 0 0.000602 0 0 ATP7B 540 broad.mit.edu 37 13 52539088 52539088 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr13:52539088C>A uc001vfw.2 - 5 1946 c.1789G>T c.(1789-1791)GTT>TTT p.V597F ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.V597F|ATP7B_uc001vfy.2_Missense_Mutation_p.V486F|ATP7B_uc010tgt.1_Missense_Mutation_p.V597F|ATP7B_uc010tgu.1_Missense_Mutation_p.V597F|ATP7B_uc010tgv.1_Missense_Mutation_p.V597F|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 597 HMA 6.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GCAAGGGCAACGGAGGCATAA 0.453 NA Wilson_disease 15 73 4.14922e-12 6.54166e-12 0.004007 1 0 C13orf34 79866 broad.mit.edu 37 13 73320191 73320191 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr13:73320191A>G uc001viv.1 + 9 967 c.848A>G c.(847-849)CAG>CGG p.Q283R C13orf34_uc010thq.1_Missense_Mutation_p.Q58R|C13orf34_uc010aen.1_Missense_Mutation_p.Q358R|C13orf34_uc010thr.1_Missense_Mutation_p.Q213R|C13orf34_uc001viw.1_Missense_Mutation_p.Q232R NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 283 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) ATTGAATTTCAGATAGGAGAG 0.348 NA 3 143 0 0 0.000248 0 0 MYCBP2 23077 broad.mit.edu 37 13 77779653 77779653 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr13:77779653T>G uc001vkf.2 - 26 3647 c.3556A>C c.(3556-3558)AAG>CAG p.K1186Q MYCBP2_uc010aev.2_Missense_Mutation_p.K590Q NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GAATAAACCTTCATTACTGCT 0.348 NA 5 33 0 0 0.000602 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328487 88328487 + Nonsense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr13:88328487G>T uc001vln.2 + 2 1063 c.844G>T c.(844-846)GAA>TAA p.E282* SLITRK5_uc010tic.1_Nonsense_Mutation_p.E41* NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 282 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ATCCAAGCAGGAACTTTGCCC 0.542 NA 15 108 1.99824e-07 2.75183e-07 0.00499 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21795868 21795868 + Nonsense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:21795868G>T uc001wag.2 + 17 2797 c.2797G>T c.(2797-2799)GAG>TAG p.E933* RPGRIP1_uc001wah.2_Nonsense_Mutation_p.E575*|RPGRIP1_uc001wai.2_Nonsense_Mutation_p.E259*|RPGRIP1_uc001wak.2_Nonsense_Mutation_p.E408*|RPGRIP1_uc010aim.2_Nonsense_Mutation_p.E316*|RPGRIP1_uc001wal.2_Nonsense_Mutation_p.E292*|RPGRIP1_uc001wam.2_Nonsense_Mutation_p.E250* NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 933 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CATACCCCCTGAGAGCTTCCT 0.458 NA 6 57 3.59834e-05 4.51587e-05 0.001168 1 0 MYH6 4624 broad.mit.edu 37 14 23876300 23876300 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:23876300C>G uc001wjv.2 - 3 200 c.133G>C c.(133-135)GAG>CAG p.E45Q MYH6_uc010akp.1_Missense_Mutation_p.E45Q NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 45 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTGACAAACTCTTCCTTGTCA 0.582 NA 6 457 0 0 0.001168 0 0 RNF31 55072 broad.mit.edu 37 14 24618772 24618772 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:24618772G>C uc001wmn.1 + 6 1038 c.789G>C c.(787-789)CAG>CAC p.Q263H PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.Q112H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q78H|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 263 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GGGTCCTGCAGGGTACCCACC 0.557 NA 19 59 0 0 0.00278 0 0 GZMB 3002 broad.mit.edu 37 14 25103412 25103412 + Translation_Start_Site SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:25103412T>A uc001wps.2 - 1 21 c.-45A>T c.(-47--43)CAAGG>CATGG GZMB_uc010ama.2_Translation_Start_Site|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) TGTTTCCTCCTTGCTCTCTTT 0.527 NA 4 7 0 0 0.000248 0 0 FANCM 57697 broad.mit.edu 37 14 45669130 45669130 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:45669130C>G uc001wwd.3 + 23 6165 c.6066C>G c.(6064-6066)ATC>ATG p.I2022M FANCM_uc010anf.2_Missense_Mutation_p.I1996M|FANCM_uc001wwe.3_Missense_Mutation_p.I1558M|FANCM_uc010ang.2_Missense_Mutation_p.I1271M NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 2022 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 CTGAGGAGATCTATAGATATA 0.338 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 8 128 0 0 0.00308 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68256100 68256100 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:68256100G>C uc001xka.2 - 16 3110 c.2971C>G c.(2971-2973)CTT>GTT p.L991V ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.L991V NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 991 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GTCTCCAAAAGCTGCTTGCAG 0.527 NA 7 90 0 0 0.001984 0 0 C14orf159 80017 broad.mit.edu 37 14 91626659 91626659 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:91626659G>T uc001xzb.2 + 5 789 c.21G>T c.(19-21)CTG>CTT p.L7L C14orf159_uc010atu.1_Silent_p.L7L|C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Silent_p.L7L|C14orf159_uc001xyx.2_Silent_p.L7L|C14orf159_uc001xyw.2_Silent_p.L7L|C14orf159_uc001xzc.2_Silent_p.L7L|C14orf159_uc001xza.2_Silent_p.L7L|C14orf159_uc001xyv.2_Silent_p.L7L|C14orf159_uc001xyz.2_5'UTR|C14orf159_uc010twj.1_Silent_p.L7L|C14orf159_uc001xze.2_Silent_p.L7L NM_001102366 NP_001095836 Q7Z3D6 CN159_HUMAN hypothetical protein LOC80017 isoform a 7 mitochondrion central_nervous_system(2)|ovary(1) 3 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) CACTCCACCTGAGGTCCCGCC 0.483 NA 20 70 3.7963e-18 6.33837e-18 0.00333 1 0 TNFAIP2 7127 broad.mit.edu 37 14 103596402 103596402 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:103596402G>T uc001ymm.1 + 4 1170 c.1039G>T c.(1039-1041)GTG>TTG p.V347L TNFAIP2_uc010awo.1_Missense_Mutation_p.V59L|TNFAIP2_uc010txz.1_Missense_Mutation_p.V16L|TNFAIP2_uc010tya.1_5'Flank NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 347 angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) GGCTGAGGATGTGCCTCCCCA 0.652 NA 12 17 1.61879e-10 2.4368e-10 0.001368 1 0 TNFAIP2 7127 broad.mit.edu 37 14 103596404 103596404 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr14:103596404G>T uc001ymm.1 + 4 1172 c.1041G>T c.(1039-1041)GTG>GTT p.V347V TNFAIP2_uc010awo.1_Silent_p.V59V|TNFAIP2_uc010txz.1_Silent_p.V16V|TNFAIP2_uc010tya.1_5'Flank NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 347 angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) CTGAGGATGTGCCTCCCCAGA 0.647 NA 10 17 1.33987e-11 2.08342e-11 0.008291 1 0 HERC2 8924 broad.mit.edu 37 15 28491134 28491134 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:28491134G>C uc001zbj.2 - 23 3576 c.3470C>G c.(3469-3471)GCT>GGT p.A1157G NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1157 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGAGGTACAGCTCCAGCCTC 0.473 NA 10 71 0 0 0.006214 0 0 TMEM85 51234 broad.mit.edu 37 15 34519984 34519984 + Missense_Mutation SNP C C G rs11544437 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:34519984C>G uc001zhq.2 + 3 363 c.292C>G c.(292-294)CCT>GCT p.P98A TMEM85_uc001zhr.2_RNA|TMEM85_uc001zhs.2_Missense_Mutation_p.P98A|TMEM85_uc010bat.2_Intron NM_016454 NP_057538 Q5J8M3 TMM85_HUMAN transmembrane protein 85 98 Helical; (Potential). apoptosis integral to membrane 0 all_lung(180;1.15e-06) all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217) CTCCATCTTCCCTACTATGAT 0.453 NA 5 101 0 0 0.000602 0 0 BAHD1 22893 broad.mit.edu 37 15 40757633 40757633 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:40757633A>T uc001zlu.2 + 6 2223 c.2152A>T c.(2152-2154)AGG>TGG p.R718W BAHD1_uc001zlt.2_Missense_Mutation_p.R717W|BAHD1_uc010bbp.1_Missense_Mutation_p.R714W|BAHD1_uc001zlv.2_Missense_Mutation_p.R715W NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 718 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CGAGTACTGCAGGTAGGTGGT 0.557 NA 8 35 0 0 0.004482 0 0 FBN1 2200 broad.mit.edu 37 15 48755419 48755419 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:48755419C>A uc001zwx.1 - 42 5412 c.5084G>T c.(5083-5085)TGC>TTC p.C1695F FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1695 TB 7. Missing (in ADWMS). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GTTTCTGTAGCACAAACTTCT 0.423 NA 19 88 1.36565e-18 2.30046e-18 0.00278 1 0 LIPC 3990 broad.mit.edu 37 15 58834830 58834830 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:58834830A>T uc010bga.1 + 6 1162 c.554A>T c.(553-555)CAC>CTC p.H185L LIPC_uc010bfz.1_Missense_Mutation_p.H185L|LIPC_uc002afa.1_Missense_Mutation_p.H185L|LIPC_uc010bgb.1_Missense_Mutation_p.H83L|LIPC_uc010ugy.1_Missense_Mutation_p.H124L NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 185 Heparin-binding (Potential). cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GGTGGAACGCACAAGATTGGG 0.512 NA 7 73 0 0 0.004482 0 0 PARP16 54956 broad.mit.edu 37 15 65553264 65553264 + Silent SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:65553264T>A uc002aoo.2 - 5 1046 c.792A>T c.(790-792)CGA>CGT p.R264R PARP16_uc002aop.2_Silent_p.R149R|PARP16_uc002aoq.2_Silent_p.R264R NM_017851 NP_060321 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 264 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity lung(2) 2 GGTACTTCACTCGCAGCAGCT 0.483 NSCLC(50;885 1163 13509 21242 41978) NA 24 129 0 0 0.00333 0 0 CSPG4 1464 broad.mit.edu 37 15 75983101 75983101 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:75983101G>A uc002baw.2 - 3 398 c.305C>T c.(304-306)ACG>ATG p.T102M NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 102 Extracellular (Potential).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 ACTCAGCAGCGTCTCTGCTGG 0.582 NA 6 79 0 0 0.00308 0 0 CPEB1 64506 broad.mit.edu 37 15 83221230 83221230 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:83221230C>G uc002bit.2 - 8 1532 c.1395G>C c.(1393-1395)GAG>GAC p.E465D CPEB1_uc002biq.2_Missense_Mutation_p.E325D|CPEB1_uc002bir.2_Missense_Mutation_p.E330D|CPEB1_uc002bis.2_Missense_Mutation_p.E325D|CPEB1_uc010uod.1_Missense_Mutation_p.E174D|CPEB1_uc010uoe.1_Missense_Mutation_p.E403D|CPEB1_uc002biu.2_Missense_Mutation_p.E427D|CPEB1_uc010uof.1_Missense_Mutation_p.E325D|CPEB1_uc002biv.2_Missense_Mutation_p.E400D|CPEB1_uc002bip.2_Missense_Mutation_p.E174D NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 405 RRM 1.|Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) GCTAACTCACCTCCTTGCAGC 0.517 NA 6 33 0 0 0.001168 0 0 NGRN 51335 broad.mit.edu 37 15 90808965 90808965 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:90808965C>T uc002bpf.1 + 1 71 c.21C>T c.(19-21)CTC>CTT p.L7L TTLL13_uc002bpe.1_Intron|NGRN_uc002bpg.1_5'UTR NM_001033088 NP_001028260 Q9NPE2 NGRN_HUMAN neugrin 7 neuron differentiation extracellular region|nucleus large_intestine(2)|ovary(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) CCCTGAGTCTCTTGCTGGGCG 0.677 NA 5 24 0 0 0.001168 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 3 14 0 0 0.004672 0 0 LUC7L 55692 broad.mit.edu 37 16 239215 239215 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:239215C>G uc002cgc.1 - 10 1209 c.1098G>C c.(1096-1098)AAG>AAC p.K366N LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_3'UTR|LUC7L_uc002cgb.1_Missense_Mutation_p.K280N NM_201412 NP_958815 Q9NQ29 LUC7L_HUMAN LUC7-like isoform b 366 metal ion binding central_nervous_system(1) 1 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CGCCGGCCTCCTTCTCTTCTG 0.552 NA 14 199 0 0 0.006122 0 0 PKD1 5310 broad.mit.edu 37 16 2147731 2147731 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:2147731C>G uc002cos.1 - 32 10427 c.10218G>C c.(10216-10218)AAG>AAC p.K3406N PKD1_uc002cot.1_Missense_Mutation_p.K3405N|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 3406 Cytoplasmic (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GAACCCACCTCTTAGAATCAT 0.587 NA 6 128 0 0 0.001984 0 0 THOC6 79228 broad.mit.edu 37 16 3074344 3074344 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:3074344C>T uc002ctb.2 + 1 313 c.17C>T c.(16-18)CCG>CTG p.P6L HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.P6L|THOC6_uc002ctc.2_5'UTR|THOC6_uc002cta.2_5'UTR NM_024339 NP_077315 Q86W42 THOC6_HUMAN WD repeat domain 58 isoform 1 6 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding ovary(1)|central_nervous_system(1) 2 CGAGCTGTGCCGCTCGCGGTG 0.647 NA 5 36 0 0 0.001984 0 0 RUNDC2A 84127 broad.mit.edu 37 16 12142251 12142251 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:12142251G>T uc002dbw.1 + 7 584 c.522G>T c.(520-522)GCG>GCT p.A174A NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 174 RUN. ovary(1) 1 TACTCTTTGCGATTAACATCG 0.483 NA T CIITA PMBL|Hodgkin Lymphona| 29 127 3.1745e-13 5.10445e-13 0.008361 1 0 MYH11 4629 broad.mit.edu 37 16 15815397 15815397 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:15815397G>C uc002ddy.2 - 32 4567 c.4460C>G c.(4459-4461)TCC>TGC p.S1487C MYH11_uc002ddv.2_Missense_Mutation_p.S1494C|MYH11_uc002ddw.2_Missense_Mutation_p.S1487C|MYH11_uc002ddx.2_Missense_Mutation_p.S1494C|MYH11_uc010bvg.2_Missense_Mutation_p.S1319C|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.S193C|NDE1_uc002ddz.1_5'Flank NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1487 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CCGAGCCAGGGACAGGGCCTT 0.537 NA T CBFB AML 4 78 0 0 0.000248 0 0 SMG1 23049 broad.mit.edu 37 16 18826800 18826800 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:18826800G>C uc002dfm.2 - 59 10839 c.10476C>G c.(10474-10476)ATC>ATG p.I3492M SMG1_uc010bwb.2_Missense_Mutation_p.I3352M|SMG1_uc010bwa.2_Missense_Mutation_p.I2223M NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3492 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AGGTGGGAGTGATTTCCTGGA 0.373 NA 4 113 0 0 0.000248 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29899882 29899882 + Missense_Mutation SNP C C A rs143818590 byFrequency TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:29899882C>A uc002duq.3 - 6 1258 c.1018G>T c.(1018-1020)GGT>TGT p.G340C uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G270C|SEZ6L2_uc002dur.3_Missense_Mutation_p.G270C|SEZ6L2_uc002dus.3_Missense_Mutation_p.G226C|SEZ6L2_uc010vec.1_Missense_Mutation_p.G340C|SEZ6L2_uc010ved.1_Missense_Mutation_p.G296C NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 340 Sushi 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GGGGTTTCACCGTTCCAGGAT 0.627 NA 5 33 3.59834e-05 4.51587e-05 0.001168 1 0 SRCAP 10847 broad.mit.edu 37 16 30750800 30750800 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:30750800G>T uc002dze.1 + 34 9824 c.9439G>T c.(9439-9441)GGG>TGG p.G3147W SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.G2942W NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 3147 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CCCAGTTGGTGGGAGTCCTGG 0.642 NA 6 26 5.18039e-06 6.7716e-06 0.00308 1 0 HSD3B7 80270 broad.mit.edu 37 16 30999168 30999168 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:30999168C>A uc002eaf.2 + 7 880 c.774C>A c.(772-774)TTC>TTA p.F258L HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.F258L NM_025193 NP_079469 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- 258 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity 0 AGGTATACTTCTGCTACGATG 0.647 NA 19 135 2.4624e-09 3.62004e-09 0.008871 1 0 ABCC11 85320 broad.mit.edu 37 16 48226557 48226557 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:48226557G>T uc002eff.1 - 19 2930 c.2580C>A c.(2578-2580)TCC>TCA p.S860S ABCC11_uc002efg.1_Silent_p.S860S|ABCC11_uc002efh.1_Silent_p.S860S|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 860 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GCTGGTAGAAGGACAGTTGAG 0.557 NA Cerumen_Type 17 85 1.99824e-07 2.75183e-07 0.00499 1 0 NKD1 85407 broad.mit.edu 37 16 50667195 50667195 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:50667195C>G uc002egg.1 + 10 1140 c.916C>G c.(916-918)CCA>GCA p.P306A NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 306 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CATCCACATCCCACACCGAAA 0.642 NA 5 118 0 0 0.001168 0 0 SF3B3 23450 broad.mit.edu 37 16 70602365 70602365 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr16:70602365G>T uc002ezf.2 + 22 3343 c.3132G>T c.(3130-3132)GTG>GTT p.V1044V NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 1044 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) ATGACACTGTGGCTGGGGCAG 0.483 NA 5 34 0.00116845 0.00135799 0.001168 1 0 GEMIN4 50628 broad.mit.edu 37 17 650508 650508 + Nonsense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:650508C>A uc002frs.1 - 2 894 c.775G>T c.(775-777)GAG>TAG p.E259* GEMIN4_uc010vqa.1_Missense_Mutation_p.R171S NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 259 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GCAGACACCTCCTGGGGGTCG 0.607 NA 17 155 1.99824e-07 2.75183e-07 0.00499 1 0 OR3A4 390756 broad.mit.edu 37 17 3214440 3214440 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:3214440T>G uc002fvi.2 + 1 902 c.836T>G c.(835-837)ATC>AGC p.I279S NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 GGCATTGGCATCCTCAACACT 0.567 NA 4 147 0 0 0.000248 0 0 SPNS3 201305 broad.mit.edu 37 17 4356383 4356383 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:4356383G>T uc002fxt.2 + 8 1040 c.996G>T c.(994-996)AGG>AGT p.R332S SPNS3_uc002fxu.2_Missense_Mutation_p.R205S|SPNS3_uc002fxv.2_Missense_Mutation_p.R16S NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 332 lipid transport|transmembrane transport integral to membrane large_intestine(1) 1 CTGCGAGGAGGTACAAGAAAG 0.607 NA 18 125 2.94398e-08 4.16574e-08 0.007413 1 0 TP53 7157 broad.mit.edu 37 17 7579457 7579457 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:7579457G>A uc002gim.2 - 4 424 c.230C>T c.(229-231)CCA>CTA p.P77L TP53_uc002gig.1_Missense_Mutation_p.P77L|TP53_uc002gih.2_Missense_Mutation_p.P77L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P77L|TP53_uc010cni.1_Missense_Mutation_p.P77L|TP53_uc002gij.2_Missense_Mutation_p.P77L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P38L|TP53_uc010cnk.1_Missense_Mutation_p.P92L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 77 Interaction with WWOX.|Interaction with HRMT1L2. P -> A (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.0?(7)|p.A76_S90del15(3)|p.P77A(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.P77fs*71(1)|p.D48fs*55(1)|p.P77fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A74fs*71(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) AGGAGCTGCTGGTGCAGGGGC 0.617 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 132 0 0 0.00245 0 0 DNAH2 146754 broad.mit.edu 37 17 7662780 7662780 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:7662780G>T uc002giu.1 + 15 2503 c.2489G>T c.(2488-2490)CGC>CTC p.R830L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 830 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGGCTGGACCGCATGATGGAG 0.527 NA 14 55 1.02788e-11 1.60271e-11 0.00499 1 0 C17orf68 80169 broad.mit.edu 37 17 8138501 8138501 + Nonsense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:8138501G>A uc002gkq.3 - 8 1368 c.1309C>T c.(1309-1311)CAG>TAG p.Q437* C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 437 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 CCAGGCTTCTGACGAGAGAAG 0.627 NA 13 103 0 0 0.001368 0 0 MYH3 4621 broad.mit.edu 37 17 10545805 10545805 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:10545805A>T uc002gmq.1 - 15 1894 c.1817T>A c.(1816-1818)GTG>GAG p.V606E NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 606 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CAGCCCAACCACAGTCTCGTT 0.557 NA 6 114 0 0 0.001168 0 0 ELAC2 60528 broad.mit.edu 37 17 12905609 12905609 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:12905609G>C uc002gnz.3 - 14 1381 c.1286C>G c.(1285-1287)CCC>CGC p.P429R ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Missense_Mutation_p.P57R|ELAC2_uc002gnw.3_Missense_Mutation_p.P87R|ELAC2_uc002gnx.3_Missense_Mutation_p.P189R|ELAC2_uc010vvo.1_Missense_Mutation_p.P227R|ELAC2_uc010vvp.1_Missense_Mutation_p.P410R|ELAC2_uc010vvq.1_Missense_Mutation_p.P428R|ELAC2_uc010vvr.1_Missense_Mutation_p.P389R NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 429 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 CTCCCTCCTGGGACGGAGCTG 0.413 NA Hereditary_Prostate_Cancer 5 58 0 0 0.001984 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612677 16612677 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:16612677G>C uc002gqk.1 + 5 1382 c.1306G>C c.(1306-1308)GTT>CTT p.V436L CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 436 0 CCCAGAAGTGGTTATGGTTGA 0.353 NA 4 53 0 0 0.000602 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612733 16612733 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:16612733G>C uc002gqk.1 + 5 1438 c.1362G>C c.(1360-1362)ATG>ATC p.M454I CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 454 0 CAAAAAATATGAACCAAAATA 0.353 NA 10 67 0 0 0.008291 0 0 SLC5A10 125206 broad.mit.edu 37 17 18922736 18922736 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:18922736G>T uc002guu.1 + 12 1283 c.1242G>T c.(1240-1242)CGG>CGT p.R414R SLC5A10_uc002gur.1_Missense_Mutation_p.W384C|SLC5A10_uc002gut.1_Silent_p.R430R|SLC5A10_uc002guv.1_Silent_p.R387R|SLC5A10_uc010vyl.1_Silent_p.R378R|SLC5A10_uc002gux.1_RNA NM_001042450 NP_001035915 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/glucose 414 Helical; (Potential). sodium ion transport|transmembrane transport integral to membrane transporter activity ovary(1) 1 TCGCCTGCAGGCTGGTCATAG 0.592 NA 4 14 5.9392e-07 8.08074e-07 0.001168 1 0 KSR1 8844 broad.mit.edu 37 17 25924462 25924462 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:25924462G>A uc010crg.2 + 10 1502 c.1057G>A c.(1057-1059)GCT>ACT p.A353T KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Missense_Mutation_p.A154T NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 488 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CAACTTCCCAGGTACCACATC 0.597 Esophageal Squamous(88;1120 1336 6324 10502 16832) NA 3 13 0 0 0.004672 0 0 NOS2 4843 broad.mit.edu 37 17 26087144 26087144 + Missense_Mutation SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:26087144A>C uc002gzu.2 - 25 3335 c.3071T>G c.(3070-3072)ATC>AGC p.I1024S NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 1024 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CTCCTGGTAGATGTGGTCCTC 0.627 NA OREG0024268 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 67 0 0 0.000602 0 0 EFCAB5 374786 broad.mit.edu 37 17 28417673 28417673 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:28417673A>G uc002het.2 + 20 4110 c.3918A>G c.(3916-3918)ATA>ATG p.I1306M EFCAB5_uc010cse.2_Missense_Mutation_p.I1061M|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1306 calcium ion binding ovary(1)|skin(1) 2 CTGGAGAGATAAAGAAAAAAT 0.368 NA 25 142 0 0 0.004656 0 0 ACCN1 40 broad.mit.edu 37 17 31439050 31439050 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:31439050G>T uc002hhu.2 - 2 865 c.591C>A c.(589-591)AAC>AAA p.N197K ACCN1_uc002hht.2_Missense_Mutation_p.N248K NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 197 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) CCTCGCCTGAGTTAAACATGT 0.517 NA 7 27 0.00198382 0.0022822 0.001984 1 0 SLFN12 55106 broad.mit.edu 37 17 33749524 33749524 + Missense_Mutation SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:33749524T>C uc002hji.3 - 2 901 c.524A>G c.(523-525)AAT>AGT p.N175S SLFN12_uc002hjj.3_Missense_Mutation_p.N175S|SLFN12_uc010cts.2_Missense_Mutation_p.N175S NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 175 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTTCATGTTATTTTCTTCTTG 0.383 NA 6 97 0 0 0.001168 0 0 KRT37 8688 broad.mit.edu 37 17 39580631 39580631 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:39580631C>G uc002hwp.1 - 1 192 c.145G>C c.(145-147)GTG>CTG p.V49L uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 49 Head. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GCGTGTGCCACGTTGGCCAAG 0.617 NA 12 63 0 0 0.001855 0 0 KRT36 8689 broad.mit.edu 37 17 39644973 39644973 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:39644973G>A uc002hwt.2 - 2 463 c.463C>T c.(463-465)CTG>TTG p.L155L NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 155 Rod.|Coil 1B. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) TTAGTCAGCAGGATCTGGGGA 0.572 NA 7 103 0 0 0.001984 0 0 WNK4 65266 broad.mit.edu 37 17 40939540 40939540 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:40939540C>G uc002ibj.2 + 7 1742 c.1721C>G c.(1720-1722)GCC>GGC p.A574G WNK4_uc010wgx.1_Missense_Mutation_p.A238G|WNK4_uc002ibk.1_Missense_Mutation_p.A346G|WNK4_uc010wgy.1_5'UTR NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 574 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) TTCCGCCACGCCAGCTACTCA 0.622 Esophageal Squamous(6;201 374 4964 23855 42828) NA 18 142 0 0 0.008871 0 0 G6PC3 92579 broad.mit.edu 37 17 42153250 42153250 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:42153250C>A uc002iex.2 + 6 1096 c.880C>A c.(880-882)CTG>ATG p.L294M G6PC3_uc002iey.2_Missense_Mutation_p.L169M|G6PC3_uc010czo.2_Missense_Mutation_p.L150M|G6PC3_uc002iez.2_Missense_Mutation_p.L169M|G6PC3_uc002ifb.2_Missense_Mutation_p.L169M|G6PC3_uc002ifc.2_Missense_Mutation_p.L103M NM_138387 NP_612396 Q9BUM1 G6PC3_HUMAN glucose-6-phosphatase catalytic subunit 3 294 Helical; (Potential). gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity skin(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) CATGGGGCTGCTGGGCCCCCT 0.612 NA 10 65 6.40141e-05 7.91091e-05 0.000978 1 0 ITGB3 3690 broad.mit.edu 37 17 45363775 45363775 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:45363775C>A uc002ilj.2 + 5 784 c.764C>A c.(763-765)GCT>GAT p.A255D ITGB3_uc002ili.1_Missense_Mutation_p.A255D|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 255 VWFA.|Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) aTCATGCAGGCTACAGTCTGT 0.338 NA 12 54 2.80697e-09 4.10529e-09 0.000978 1 0 TEX14 56155 broad.mit.edu 37 17 56650541 56650541 + Splice_Site SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:56650541C>G uc010dcz.1 - 24 3767 c.3649_splice c.e24+1 p.G1217_splice TEX14_uc002iwr.1_Splice_Site_p.G1211_splice|TEX14_uc002iws.1_Splice_Site_p.G1171_splice|TEX14_uc010dda.1_Splice_Site_p.G951_splice NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTGTGATTACCTGGGCTGAG 0.502 NA 15 155 0 0 0.00245 0 0 RNF157 114804 broad.mit.edu 37 17 74150404 74150404 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:74150404A>G uc002jqz.2 - 17 1839 c.1770T>C c.(1768-1770)AAT>AAC p.N590N RNF157_uc002jra.2_Silent_p.N568N|uc002jrb.1_5'Flank NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 590 zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) CTATAACATCATTTCCCTAGG 0.423 GBM(186;507 2120 27388 27773 52994) NA 28 156 0 0 0.007291 0 0 CARD14 79092 broad.mit.edu 37 17 78175572 78175572 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:78175572C>G uc002jxw.1 + 14 2076 c.1881C>G c.(1879-1881)TTC>TTG p.F627L CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.F627L|CARD14_uc010wud.1_Intron NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 627 PDZ. DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326). activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGCCCTTGTTCAAGGCAGTCC 0.592 NA 5 74 0 0 0.00308 0 0 Unknown 0 broad.mit.edu 37 17 78280178 78280178 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:78280178G>T uc002jyf.2 + 12 2480 c.2337G>T c.(2335-2337)GAG>GAT p.E779D uc002jyg.1_Missense_Mutation_p.E510D NM_020954 NP_066005 hypothetical protein LOC57714 NA ACTTCATTGAGCACCTGGGTC 0.483 NA 21 77 2.27731e-05 2.90305e-05 0.001882 1 0 EPB41L3 23136 broad.mit.edu 37 18 5395092 5395092 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr18:5395092C>A uc002kmt.1 - 21 3213 c.3127G>T c.(3127-3129)GGG>TGG p.G1043W EPB41L3_uc010wzh.1_Missense_Mutation_p.G874W|EPB41L3_uc002kmu.1_Missense_Mutation_p.G821W|EPB41L3_uc010dkq.1_Missense_Mutation_p.G712W|EPB41L3_uc002kms.1_Missense_Mutation_p.G278W|EPB41L3_uc010wze.1_Missense_Mutation_p.G348W|EPB41L3_uc010wzf.1_Missense_Mutation_p.G340W|EPB41L3_uc010wzg.1_Missense_Mutation_p.G315W|EPB41L3_uc010dkr.2_Missense_Mutation_p.G435W NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1043 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TCTGCATCCCCCGTGATGACT 0.448 NA 20 94 1.28384e-07 1.78101e-07 0.001882 1 0 EPB41L3 23136 broad.mit.edu 37 18 5443878 5443878 + Missense_Mutation SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr18:5443878T>C uc002kmt.1 - 5 574 c.488A>G c.(487-489)AAT>AGT p.N163S EPB41L3_uc010wzh.1_Missense_Mutation_p.N163S|EPB41L3_uc002kmu.1_Missense_Mutation_p.N163S|EPB41L3_uc010dkq.1_Missense_Mutation_p.N54S|EPB41L3_uc010dks.1_Missense_Mutation_p.N185S|EPB41L3_uc002kmv.1_Missense_Mutation_p.N54S NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 163 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GTCCAACCAATTCTGAAAAGG 0.353 NA 6 106 0 0 0.001984 0 0 SLC14A2 8170 broad.mit.edu 37 18 43249369 43249369 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr18:43249369C>G uc010dnj.2 + 17 2456 c.2135C>G c.(2134-2136)GCC>GGC p.A712G SLC14A2_uc002lbe.2_Missense_Mutation_p.A712G NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 712 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TACCTGGCAGCCACGGGCCAC 0.572 NA 25 114 0 0 0.004656 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305132 61305132 + Missense_Mutation SNP C C A rs144633926 byFrequency TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr18:61305132C>A uc002ljf.2 - 8 1080 c.994G>T c.(994-996)GCC>TCC p.A332S SERPINB4_uc002lje.2_Missense_Mutation_p.A311S|SERPINB4_uc002ljg.2_Missense_Mutation_p.A332S NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 332 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 TCCACAAAGGCCTTGTGTAGG 0.493 NA 7 138 2.0095e-06 2.68883e-06 0.001984 1 0 CCDC102B 79839 broad.mit.edu 37 18 66721318 66721318 + Nonsense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr18:66721318G>T uc002lkk.2 + 10 1709 c.1486G>T c.(1486-1488)GAG>TAG p.E496* CCDC102B_uc002lki.2_Nonsense_Mutation_p.E496* NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 496 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TCTGGATGAAGAGAAAGAAAG 0.333 NA 15 104 6.72482e-11 1.0315e-10 0.003163 1 0 ZNF516 9658 broad.mit.edu 37 18 74154561 74154561 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr18:74154561T>G uc010dqx.1 - 2 685 c.450A>C c.(448-450)AGA>AGC p.R150S ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCAGCAGGACTCTGCCGCTGT 0.716 NA 4 17 0 0 0.000248 0 0 CTDP1 9150 broad.mit.edu 37 18 77455261 77455261 + Silent SNP G G T rs139441883 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr18:77455261G>T uc002lnh.1 + 2 498 c.351G>T c.(349-351)CCG>CCT p.P117P CTDP1_uc002lni.1_Silent_p.P117P|CTDP1_uc010drd.1_Silent_p.P117P NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 117 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GCAGCCACCCGGTTGTCATGA 0.468 NA 12 71 2.80697e-09 4.10529e-09 0.000978 1 0 STK11 6794 broad.mit.edu 37 19 1207120 1207120 + Nonsense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:1207120G>T uc002lrl.1 + 1 1323 c.208G>T c.(208-210)GAG>TAG p.E70* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 70 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.G52_P179del(1)|p.E70fs*26(1)|p.E70*(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGACTCGGAGACGCTGTG 0.607 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 8 26 0.000157383 0.000190747 0.00308 1 0 MBD3 53615 broad.mit.edu 37 19 1578464 1578464 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:1578464C>A uc002ltl.1 - 6 773 c.751G>T c.(751-753)GTG>TTG p.V251L uc002lti.1_5'Flank|MBD3_uc002ltj.2_Missense_Mutation_p.V251L|MBD3_uc002ltk.2_Missense_Mutation_p.V219L NM_003926 NP_003917 O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 251 transcription, DNA-dependent NuRD complex DNA binding|protein binding ovary(1)|pancreas(1)|skin(1) 3 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTCCTCCACGTGCGCCAGC 0.542 NA 14 60 3.27435e-08 4.62165e-08 0.00245 1 0 SAFB2 9667 broad.mit.edu 37 19 5612565 5612565 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:5612565G>T uc002mcd.2 - 6 832 c.620C>A c.(619-621)TCC>TAC p.S207Y SAFB2_uc010xio.1_Missense_Mutation_p.S207Y|SAFB2_uc010xip.1_RNA NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CTCCAAAAGGGATTCTTCAAT 0.338 Ovarian(127;888 1728 23957 44128 52668) NA 9 44 1.76689e-08 2.52541e-08 0.006214 1 0 TUBB4 10382 broad.mit.edu 37 19 6495433 6495433 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:6495433G>A uc002mfg.1 - 4 1184 c.1077C>T c.(1075-1077)CGC>CGT p.R359R TUBB4_uc002mff.1_Silent_p.R287R|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 359 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) TCTTCAGGCCGCGGGGCGGGA 0.622 NA 41 167 0 0 0.007835 0 0 MUC16 94025 broad.mit.edu 37 19 9013855 9013855 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:9013855G>T uc002mkp.2 - 33 38739 c.38535C>A c.(38533-38535)CCC>CCA p.P12845P MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12847 Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATGTAGGGCTGGGGAGGGAGG 0.478 NA 8 29 5.18039e-06 6.7716e-06 0.00308 1 0 RGL3 57139 broad.mit.edu 37 19 11527319 11527319 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:11527319C>A uc002mrp.2 - 4 458 c.394G>T c.(394-396)GTA>TTA p.V132L RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.V132L|RGL3_uc002mrq.2_3'UTR NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 132 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 AGATCTTGTACCGCTGTCTTC 0.567 GBM(174;751 2067 17998 27979 33959) NA 28 95 8.16721e-17 1.35561e-16 0.002096 1 0 ZNF439 90594 broad.mit.edu 37 19 11978327 11978327 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:11978327G>T uc002mss.2 + 3 571 c.443G>T c.(442-444)TGT>TTT p.C148F ZNF439_uc002msr.2_Missense_Mutation_p.C12F NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CACAAGGCATGTGAATGTCAG 0.428 NA 45 148 3.05275e-18 5.112e-18 0.003214 1 0 OR10H5 284433 broad.mit.edu 37 19 15905246 15905246 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:15905246C>T uc010xos.1 + 1 388 c.388C>T c.(388-390)CTG>TTG p.L130L NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTGCCACCCCCTGCGTTACAA 0.627 NA 6 62 0 0 0.001168 0 0 ZNF208 7757 broad.mit.edu 37 19 22157095 22157095 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:22157095A>T uc002nqp.2 - 4 890 c.741T>A c.(739-741)CAT>CAA p.H247Q ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GAATTACCTTATGTTTAGTAA 0.353 NA 4 56 0 0 0.000248 0 0 ZNF599 148103 broad.mit.edu 37 19 35258315 35258315 + Silent SNP C C T rs147712651 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:35258315C>T uc010edn.1 - 3 535 c.147G>A c.(145-147)GGG>GGA p.G49G ZNF599_uc010edm.1_Silent_p.G12G|ZNF599_uc010xsd.1_RNA|ZNF599_uc010edo.1_RNA NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GAACAGGATGCCCTGTGCATG 0.453 NA 3 53 0 0 0.000248 0 0 ZFP14 57677 broad.mit.edu 37 19 36831713 36831713 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:36831713G>A uc002odx.1 - 4 1108 c.1015C>T c.(1015-1017)CCC>TCC p.P339S ZFP14_uc010xtd.1_Missense_Mutation_p.P340S|ZFP14_uc010eex.1_Missense_Mutation_p.P339S NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) CATTCATAGGGTTTCTCACCA 0.393 NA 23 76 0 0 0.00278 0 0 ZNF260 339324 broad.mit.edu 37 19 37005662 37005662 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:37005662C>G uc002oee.1 - 4 1323 c.479G>C c.(478-480)GGA>GCA p.G160A ZNF260_uc002oed.1_Missense_Mutation_p.G157A|ZNF260_uc010eey.1_Missense_Mutation_p.G157A|ZNF260_uc002oef.1_Missense_Mutation_p.G157A NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 160 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) TGGTTTTTCTCCAGTATGAAT 0.393 NA 25 212 0 0 0.005443 0 0 RYR1 6261 broad.mit.edu 37 19 38997148 38997148 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:38997148C>G uc002oit.2 + 56 8784 c.8654C>G c.(8653-8655)ACG>AGG p.T2885R RYR1_uc002oiu.2_Missense_Mutation_p.T2885R|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2885 6 X approximate repeats.|Cytoplasmic.|6. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TACCACAACACGTGGGGACGG 0.313 NA 5 32 0 0 0.001168 0 0 RYR1 6261 broad.mit.edu 37 19 39001357 39001357 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:39001357A>G uc002oit.2 + 60 9188 c.9058A>G c.(9058-9060)ACT>GCT p.T3020A RYR1_uc002oiu.2_Missense_Mutation_p.T3020A|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3020 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TTTCTTGTCCACTCCGGCTAA 0.582 NA 32 175 0 0 0.004289 0 0 TGFB1 7040 broad.mit.edu 37 19 41854260 41854260 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:41854260C>T uc002oqh.1 - 2 1323 c.456G>A c.(454-456)CGG>CGA p.R152R CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_5'Flank NM_000660 NP_000651 P01137 TGFB1_HUMAN transforming growth factor, beta 1 precursor 152 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding 0 Hyaluronidase(DB00070) GCAGCTCTGCCCGGGAGAGCA 0.522 NA 15 169 0 0 0.003163 0 0 PSG5 5673 broad.mit.edu 37 19 43679369 43679369 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:43679369G>C uc002ovu.2 - 4 1093 c.962C>G c.(961-963)TCT>TGT p.S321C PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.S196C|PSG5_uc002ovx.2_Missense_Mutation_p.S321C|PSG5_uc002ovv.2_Missense_Mutation_p.S414C|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 321 female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) CCACTTACCAGAGACTTCGAC 0.453 NA 38 355 0 0 0.00361 0 0 PSG4 5672 broad.mit.edu 37 19 43702175 43702175 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:43702175C>A uc002ovy.2 - 3 785 c.683G>T c.(682-684)AGT>ATT p.S228I PSG6_uc010xwk.1_Missense_Mutation_p.S67I|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Intron|PSG4_uc002ovz.2_Missense_Mutation_p.S228I NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 228 Ig-like C2-type 1. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) GACTGGGTCACTGCGGCTGGC 0.517 NA 111 276 1.11784e-71 1.92895e-71 0.00361 1 0 APOE 348 broad.mit.edu 37 19 45412464 45412465 + Missense_Mutation DNP CC CC AA TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:45412464_45412465CC>AA uc002pab.2 + 4 994_995 c.911_912CC>AA c.(910-912)GCC>GAA p.A304E NM_000041 NP_000032 P02649 APOE_HUMAN apolipoprotein E precursor 304 anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) GTGCAGGCTGCCGTGGGCACCA 0.708 NA 5 15 0 0 0.004672 0 0 APOC2 344 broad.mit.edu 37 19 45452505 45452505 + Nonstop_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:45452505A>T uc002pah.2 + 4 408 c.305A>T c.(304-306)TAA>TTA p.*102L NM_000483 NP_000474 P02655 APOC2_HUMAN apolipoprotein C-II precursor 102 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity kidney(1) 1 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) GGAGAGGAGTAACAGCCAGAC 0.542 NA 7 30 0 0 0.00308 0 0 CCDC61 729440 broad.mit.edu 37 19 46519634 46519634 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:46519634G>C uc002pdw.2 + 10 1131 c.1131G>C c.(1129-1131)CAG>CAC p.Q377H MIR769_hsa-mir-769|MI0003834_5'Flank NM_001080402 NP_001073871 coiled-coil domain containing 61 ovary(1) 1 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) AAAGGAAGCAGAGAGAGATCC 0.657 NA 3 31 0 0 0.000248 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49351253 49351253 + Silent SNP C C A rs148488396 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:49351253C>A uc002pkx.2 - 14 2021 c.1470G>T c.(1468-1470)ACG>ACT p.T490T PLEKHA4_uc002pkw.1_Silent_p.T5T|PLEKHA4_uc010eml.2_Silent_p.T465T NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 490 cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GACCTGCCAGCGTGTCTTCCA 0.587 NA 5 28 0.000602214 0.000713082 0.000602 1 0 CPT1C 126129 broad.mit.edu 37 19 50204052 50204052 + Silent SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:50204052C>G uc002ppj.2 + 4 598 c.393C>G c.(391-393)TCC>TCG p.S131S CPT1C_uc002ppl.3_Silent_p.S131S|CPT1C_uc002ppi.2_Silent_p.S48S|CPT1C_uc002ppk.2_Silent_p.S131S|CPT1C_uc010eng.2_Silent_p.S131S|CPT1C_uc010enh.2_Silent_p.S131S|CPT1C_uc010ybc.1_Intron NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 131 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TGCTTCTGTCCTACCACGGCT 0.657 NA 16 112 0 0 0.006122 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52000183 52000183 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:52000183C>T uc002pwx.1 - 7 1606 c.1550G>A c.(1549-1551)GGG>GAG p.G517E SIGLEC12_uc002pww.1_Missense_Mutation_p.G399E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G244E NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 517 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCCTGTATCCCCCACGCCCAC 0.592 NA 6 83 0 0 0.006214 0 0 FPR2 2358 broad.mit.edu 37 19 52272055 52272055 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:52272055C>G uc002pxr.2 + 2 189 c.144C>G c.(142-144)ATC>ATG p.I48M FPR2_uc002pxs.3_Missense_Mutation_p.I48M|FPR2_uc010epf.2_Missense_Mutation_p.I48M NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 48 Helical; Name=1; (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 GGCTTGTGATCTGGGTGGCTG 0.557 NA 15 88 0 0 0.004007 0 0 ZNF649 65251 broad.mit.edu 37 19 52394602 52394602 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:52394602C>A uc002pxy.2 - 5 1055 c.787G>T c.(787-789)GGG>TGG p.G263W ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 263 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TCACTGCACCCGTATGGTTTC 0.502 NA 21 93 1.87028e-06 2.50848e-06 0.001882 1 0 ZNF415 55786 broad.mit.edu 37 19 53612605 53612605 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:53612605C>A uc002qax.2 - 7 1186 c.837G>T c.(835-837)ATG>ATT p.M279I ZNF415_uc002qat.2_Missense_Mutation_p.M243I|ZNF415_uc002qaw.2_Missense_Mutation_p.M231I|ZNF415_uc010yds.1_Missense_Mutation_p.M231I|ZNF415_uc010ydt.1_Missense_Mutation_p.M231I|ZNF415_uc002qau.2_Missense_Mutation_p.M218I|ZNF415_uc002qav.2_Missense_Mutation_p.M243I|ZNF415_uc002qba.2_Missense_Mutation_p.M1I|ZNF415_uc002qay.2_Missense_Mutation_p.M218I|ZNF415_uc002qaz.2_Missense_Mutation_p.M279I NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 279 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) GACGTACAGTCATGTGTGAGC 0.403 NA 9 95 1.12685e-05 1.45284e-05 0.004482 1 0 LILRB1 10859 broad.mit.edu 37 19 55143933 55143933 + Nonsense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:55143933C>A uc002qgj.2 + 7 1020 c.680C>A c.(679-681)TCA>TAA p.S227* LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.S227*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.S227*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.S227*|LILRB1_uc010erq.2_Nonsense_Mutation_p.S227*|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 227 Ig-like C2-type 3.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) AAGAAGCCATCACTCTCAGTG 0.552 NA HNSCC(37;0.09) 13 85 2.61681e-11 4.04677e-11 0.00245 1 0 LILRB4 11006 broad.mit.edu 37 19 55179365 55179365 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:55179365G>A uc002qgp.2 + 12 1604 c.1242G>A c.(1240-1242)CAG>CAA p.Q414Q LILRB4_uc002qgq.2_Silent_p.Q413Q|LILRB4_uc002qgr.2_Silent_p.Q456Q|LILRB4_uc010ert.2_Silent_p.Q455Q|LILRB4_uc010eru.2_Silent_p.Q444Q NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 414 Cytoplasmic (Potential).|ITIM motif 2. integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) CCTACGCCCAGCTGCACAGCT 0.647 NA 14 80 0 0 0.00245 0 0 NLRP2 55655 broad.mit.edu 37 19 55493713 55493713 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:55493713G>T uc002qij.2 + 6 733 c.647G>T c.(646-648)GGC>GTC p.G216V NLRP2_uc010yfp.1_Missense_Mutation_p.G193V|NLRP2_uc010esn.2_Missense_Mutation_p.G192V|NLRP2_uc010eso.2_Missense_Mutation_p.G213V|NLRP2_uc010esp.2_Missense_Mutation_p.G194V NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 216 NACHT.|ATP (Potential). apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GGTCCTGCAGGCCTTGGGAAA 0.537 NA 11 78 3.86212e-05 4.81489e-05 0.008291 1 0 PEG3 5178 broad.mit.edu 37 19 57327815 57327815 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:57327815G>T uc002qnu.2 - 7 2346 c.1995C>A c.(1993-1995)ACC>ACA p.T665T ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.T636T|PEG3_uc002qnv.2_Silent_p.T665T|PEG3_uc002qnw.2_Silent_p.T541T|PEG3_uc002qnx.2_Silent_p.T539T|PEG3_uc010etr.2_Silent_p.T665T NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 665 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CAGGAATAAAGGTTTCCTCAC 0.443 NA 27 177 6.38683e-12 1.00415e-11 0.008361 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58551840 58551840 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:58551840C>T uc002qrc.1 + 4 640 c.393C>T c.(391-393)GTC>GTT p.V131V NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 131 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TGGACTCGGTCGAACCCCAGG 0.612 NA 25 132 0 0 0.001786 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919884 8919884 + Nonsense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:8919884G>A uc002qzc.2 - 18 2472 c.2290C>T c.(2290-2292)CAG>TAG p.Q764* KIDINS220_uc010yiv.1_Nonsense_Mutation_p.Q530*|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.Q722*|KIDINS220_uc010yiw.1_Nonsense_Mutation_p.Q765* NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 764 KAP NTPase.|Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTCTGATTCTGAGTGAAGCTG 0.458 NA 12 49 0 0 0.000978 0 0 C2orf39 92749 broad.mit.edu 37 2 26663341 26663341 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:26663341A>G uc002rhg.2 + 8 1058 c.984A>G c.(982-984)GAA>GAG p.E328E C2orf39_uc010eym.1_Intron NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 328 Potential. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGAGATGAAGAAAGCACAG 0.428 NA 5 52 0 0 0.000602 0 0 FAM179A 165186 broad.mit.edu 37 2 29222107 29222107 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:29222107G>T uc010ezl.2 + 4 551 c.200G>T c.(199-201)CGT>CTT p.R67L FAM179A_uc010ymm.1_Missense_Mutation_p.R67L NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 67 binding ovary(3)|skin(1) 4 CAGCTCCTGCGTGGACTCGGA 0.617 NA 3 20 6.4e-05 7.91091e-05 0.004672 1 0 RASGRP3 25780 broad.mit.edu 37 2 33783856 33783856 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:33783856C>A uc002rox.2 + 18 2450 c.1823C>A c.(1822-1824)GCC>GAC p.A608D RASGRP3_uc010ync.1_Missense_Mutation_p.A608D|RASGRP3_uc002roy.2_Missense_Mutation_p.A607D NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 608 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) CTACAGAGGGCCACCACCAGC 0.567 NA 7 81 0.00198382 0.0022822 0.001984 1 0 ATL2 64225 broad.mit.edu 37 2 38536571 38536571 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:38536571C>G uc002rqq.2 - 9 1051 c.1021G>C c.(1021-1023)GAG>CAG p.E341Q ATL2_uc010ynm.1_Missense_Mutation_p.E323Q|ATL2_uc010ynn.1_Missense_Mutation_p.E323Q|ATL2_uc010yno.1_Missense_Mutation_p.E170Q|ATL2_uc002rqs.2_Missense_Mutation_p.E341Q|ATL2_uc002rqr.2_Missense_Mutation_p.E170Q NM_001135673 NP_001129145 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 isoform 2 341 Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding ovary(1)|kidney(1)|skin(1) 3 CCACTTATCTCTTTTTCTACC 0.338 NA 4 76 0 0 0.000248 0 0 THADA 63892 broad.mit.edu 37 2 43819156 43819156 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:43819156C>A uc002rsw.3 - 3 458 c.106G>T c.(106-108)GCT>TCT p.A36S THADA_uc002rsx.3_Missense_Mutation_p.A36S|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.A36S|THADA_uc002rtc.3_Missense_Mutation_p.A36S|THADA_uc002rtd.2_Missense_Mutation_p.A36S NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 36 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AGCAAAGAAGCTAGATTTTTC 0.328 NA 3 5 0.00024832 0.000299041 0.000248 1 0 ABCG5 64240 broad.mit.edu 37 2 44065079 44065079 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:44065079G>T uc002rtn.2 - 2 299 c.159C>A c.(157-159)CCC>CCA p.P53P ABCG5_uc002rto.2_Translation_Start_Site|ABCG5_uc002rtp.2_Translation_Start_Site|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 53 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGTCCCACCAGGGCCTCACGC 0.587 NA 5 66 1.23904e-05 1.59024e-05 0.000602 1 0 ANTXR1 84168 broad.mit.edu 37 2 69271872 69271872 + Splice_Site SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:69271872A>T uc002sfg.2 + 3 581 c.225_splice c.e3-2 p.S75_splice ANTXR1_uc002sfe.2_Splice_Site_p.S75_splice|ANTXR1_uc002sff.2_Splice_Site_p.S75_splice|ANTXR1_uc002sfd.2_Splice_Site_p.S75_splice NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 TTTCCTTTCCAGCCCACAGTT 0.463 NA Familial_Infantile_Hemangioma 4 67 0 0 0.001168 0 0 TACR1 6869 broad.mit.edu 37 2 75425737 75425737 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:75425737G>C uc002sng.2 - 1 909 c.324C>G c.(322-324)CAC>CAG p.H108Q TACR1_uc002snh.2_Missense_Mutation_p.H108Q NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 108 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GAAAGAAGTTGTGGAACTTGC 0.512 Pancreas(64;62 1268 3653 14826 43765) NA 12 56 0 0 0.000978 0 0 TRIM43 129868 broad.mit.edu 37 2 96259801 96259801 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:96259801G>C uc002suv.2 + 2 166 c.30G>C c.(28-30)CAG>CAC p.Q10H NM_138800 NP_620155 Q96BQ3 TRI43_HUMAN tripartite motif-containing 43 10 intracellular zinc ion binding ovary(1) 1 ATGCCTTCCAGAAGGAACTCA 0.483 NA 21 173 0 0 0.004656 0 0 SULT1C3 442038 broad.mit.edu 37 2 108875201 108875201 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:108875201T>A uc010ywo.1 + 5 538 c.538T>A c.(538-540)TCC>ACC p.S180T NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 180 cytoplasm alcohol sulfotransferase activity skin(1) 1 TGTTGGCGGGTCCTGGTTTGA 0.453 NA 5 72 0 0 0.000602 0 0 RANBP2 5903 broad.mit.edu 37 2 109381205 109381205 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:109381205G>T uc002tem.3 + 20 4336 c.4210G>T c.(4210-4212)GTT>TTT p.V1404F NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1404 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CCCAGAGAATGTTCAAGATCG 0.398 NA 9 76 0.000978159 0.00114863 0.000978 1 0 BCL2L11 10018 broad.mit.edu 37 2 111881467 111881467 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:111881467G>C uc002tgv.1 + 2 433 c.145G>C c.(145-147)GGA>CGA p.G49R BCL2L11_uc002tgt.1_Intron|BCL2L11_uc002tgu.1_Intron|BCL2L11_uc002tgw.1_Intron|BCL2L11_uc002tgx.1_Intron|BCL2L11_uc010fkd.1_Intron|BCL2L11_uc002tgy.1_Intron|BCL2L11_uc002tgz.1_Intron|BCL2L11_uc010fke.1_Intron|BCL2L11_uc002tha.1_Missense_Mutation_p.G49R|BCL2L11_uc002thb.1_Intron|BCL2L11_uc002thc.1_Intron|BCL2L11_uc002thd.1_Intron NM_138621 NP_619527 O43521 B2L11_HUMAN BCL2-like 11 isoform 1 49 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding|protein binding 0 AGGCAATCACGGAGGTGAAGG 0.632 NA 6 56 0 0 0.001168 0 0 CCDC74A 90557 broad.mit.edu 37 2 132289308 132289308 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:132289308C>A uc002tta.2 + 4 668 c.616C>A c.(616-618)CTG>ATG p.L206M CCDC74A_uc002ttb.2_Missense_Mutation_p.L140M NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 206 skin(1) 1 GAAGGCGGACCTGGAAGAGGA 0.582 NA 8 105 1.08611e-07 1.51041e-07 0.000978 1 0 LRP1B 53353 broad.mit.edu 37 2 141299393 141299393 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:141299393G>C uc002tvj.1 - 44 8314 c.7342C>G c.(7342-7344)CAT>GAT p.H2448D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2448 Extracellular (Potential).|LDL-receptor class B 27. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTGGCTGATGTGGAATATCG 0.383 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 12 132 0 0 0.001855 0 0 GCG 2641 broad.mit.edu 37 2 163004007 163004007 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:163004007T>G uc002ucc.2 - 3 209 c.110A>C c.(109-111)CAG>CCG p.Q37P NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 37 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) TGGGTCTGCCTGGGAAGCTGA 0.463 NA 19 252 0 0 0.008871 0 0 SCN1A 6323 broad.mit.edu 37 2 166908495 166908495 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:166908495A>G uc010zcz.1 - 6 716 c.698T>C c.(697-699)CTG>CCG p.L233P SCN1A_uc002udo.3_Missense_Mutation_p.L102P|SCN1A_uc010fpk.2_Missense_Mutation_p.L102P NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 233 Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity).|I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATGGTTTTCAGGCCTGAAAG 0.378 NA 3 92 0 0 0.004672 0 0 HOXD10 3236 broad.mit.edu 37 2 176981700 176981700 + Nonsense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:176981700G>T uc002ukj.2 + 1 209 c.139G>T c.(139-141)GGA>TGA p.G47* NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 47 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GGGGACCTATGGAATGCAAAC 0.478 NA 11 101 1.36491e-13 2.20726e-13 0.001855 1 0 CCDC141 285025 broad.mit.edu 37 2 179720986 179720986 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:179720986G>T uc002unf.1 - 8 1195 c.1138C>A c.(1138-1140)CAG>AAG p.Q380K NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 380 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTTGTTACCTGCATTTTTTCA 0.299 NA 5 60 0.00116845 0.00135799 0.001168 1 0 ASNSD1 54529 broad.mit.edu 37 2 190532188 190532188 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:190532188C>A uc002uqt.2 + 4 1764 c.1330C>A c.(1330-1332)CGA>AGA p.R444R NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 444 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) AAGAAGAACTCGAATATGTCA 0.413 NA 5 99 3.59834e-05 4.51587e-05 0.001168 1 0 SF3B1 23451 broad.mit.edu 37 2 198274523 198274523 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:198274523C>T uc002uue.2 - 7 923 c.875G>A c.(874-876)AGA>AAA p.R292K NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 292 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTCATCCCATCTGTTTTTACG 0.512 NA 33 434 0 0 0.003271 0 0 TRAK2 66008 broad.mit.edu 37 2 202264117 202264117 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:202264117C>T uc002uyb.3 - 5 909 c.463G>A c.(463-465)GGA>AGA p.G155R TRAK2_uc002uyc.2_Missense_Mutation_p.G155R NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 155 Potential. early endosome|plasma membrane GABA receptor binding 0 AAGGCTTGTCCCAATTGCTCC 0.418 NA 7 47 0 0 0.001984 0 0 RAPH1 65059 broad.mit.edu 37 2 204305195 204305195 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:204305195G>A uc002vad.2 - 14 2943 c.2718C>T c.(2716-2718)CCC>CCT p.P906P NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 906 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 GGATGGAGCTGGGCTGCCACT 0.473 NA 13 106 0 0 0.001368 0 0 NDUFS1 4719 broad.mit.edu 37 2 206994878 206994878 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:206994878G>A uc002vbe.2 - 15 1769 c.1642C>T c.(1642-1644)CTG>TTG p.L548L NDUFS1_uc010ziq.1_Silent_p.L562L|NDUFS1_uc010zir.1_Silent_p.L512L|NDUFS1_uc010zis.1_Silent_p.L491L|NDUFS1_uc010zit.1_Silent_p.L437L|NDUFS1_uc010ziu.1_Silent_p.L432L NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 548 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) TCTGCTCCCAGGAGAAACAGC 0.458 NA 7 68 0 0 0.001984 0 0 ADAM23 8745 broad.mit.edu 37 2 207435496 207435496 + Nonsense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:207435496C>G uc002vbq.2 + 16 1750 c.1527C>G c.(1525-1527)TAC>TAG p.Y509* ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 509 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GAAATGGATACGTGGAAGCTG 0.413 Melanoma(194;1127 2130 19620 24042 27855) NA 8 54 0 0 0.006214 0 0 GLB1L 79411 broad.mit.edu 37 2 220107620 220107620 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:220107620T>A uc002vkm.2 - 4 499 c.260A>T c.(259-261)CAC>CTC p.H87L GLB1L_uc002vkk.2_5'Flank|GLB1L_uc010zkx.1_Missense_Mutation_p.H87L|GLB1L_uc002vkn.2_Missense_Mutation_p.H87L|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.1_5'Flank|STK16_uc010fwf.2_5'Flank|STK16_uc002vkp.2_5'Flank|STK16_uc002vkr.2_5'Flank|STK16_uc002vkq.2_5'Flank NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 87 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGTGGCTCGTGGTAGTTCCA 0.527 NA 5 55 0 0 0.000602 0 0 TRPM8 79054 broad.mit.edu 37 2 234894455 234894455 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:234894455T>G uc002vvh.2 + 21 2925 c.2885T>G c.(2884-2886)ATC>AGC p.I962S TRPM8_uc010fyj.2_Missense_Mutation_p.I540S|TRPM8_uc010fyk.2_RNA NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 962 Helical; Name=6; (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CTGGTGTGCATCTACATGTTA 0.557 NA 4 63 0 0 0.000248 0 0 COL6A3 1293 broad.mit.edu 37 2 238245036 238245036 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:238245036G>T uc002vwl.2 - 40 8992 c.8707C>A c.(8707-8709)CCA>ACA p.P2903T COL6A3_uc002vwo.2_Missense_Mutation_p.P2697T|COL6A3_uc010znj.1_Missense_Mutation_p.P2296T|COL6A3_uc002vwj.2_Missense_Mutation_p.P284T NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2903 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTCACAGATGGCTGATTTATA 0.572 NA 12 172 1.61879e-10 2.4368e-10 0.001368 1 0 DEFB127 140850 broad.mit.edu 37 20 138186 138186 + Missense_Mutation SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:138186A>C uc002wcy.1 + 1 1 c.1A>C c.(1-3)ATG>CTG p.M1L NM_139074 NP_620713 Q9H1M4 DB127_HUMAN defensin, beta 127 preproprotein 1 defense response to bacterium|innate immune response extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) AAGCCTGGCCATGGGGCTCTT 0.468 NA 3 89 0 0 0.004672 0 0 UBOX5 22888 broad.mit.edu 37 20 3102805 3102805 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:3102805C>A uc002whw.2 - 3 650 c.480G>T c.(478-480)TGG>TGT p.W160C uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.W160C|UBOX5_uc002why.1_Missense_Mutation_p.W160C NM_014948 NP_055763 O94941 RNF37_HUMAN U-box domain containing 5 isoform a 160 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 CCCCTTTATTCCAGAGCTCCT 0.582 NA 13 62 1.61879e-10 2.4368e-10 0.001368 1 0 SPTLC3 55304 broad.mit.edu 37 20 13145412 13145412 + Silent SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:13145412T>G uc002wod.1 + 12 1846 c.1557T>G c.(1555-1557)GCT>GCG p.A519A NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 519 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TTTTAGAAGCTCTTGATGAAA 0.438 NA 3 20 0 0 0.004672 0 0 ESF1 51575 broad.mit.edu 37 20 13756763 13756763 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:13756763C>A uc002woj.2 - 3 899 c.791G>T c.(790-792)AGA>ATA p.R264I ESF1_uc002wok.1_Missense_Mutation_p.R264I NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 aCCTGAAGCTCTACCAACACT 0.234 NA 18 114 2.48551e-13 4.00797e-13 0.00499 1 0 BPIL1 80341 broad.mit.edu 37 20 31609550 31609550 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:31609550C>G uc002wyj.2 + 15 1474 c.1280C>G c.(1279-1281)GCC>GGC p.A427G NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 427 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 ATGGGAATTGCCCTCCCTGGT 0.468 NA 21 87 0 0 0.002299 0 0 TOP1 7150 broad.mit.edu 37 20 39746848 39746848 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:39746848G>A uc002xjl.2 + 18 2108 c.1862G>A c.(1861-1863)CGT>CAT p.R621H uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 621 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) TCTTATAACCGTGCCAATCGA 0.423 NA T NUP98 AML* 9 41 0 0 0.004482 0 0 CHD6 84181 broad.mit.edu 37 20 40161981 40161981 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:40161981C>T uc002xka.1 - 3 440 c.262G>A c.(262-264)GGA>AGA p.G88R CHD6_uc002xkd.2_Missense_Mutation_p.G66R|CHD6_uc002xkc.2_Missense_Mutation_p.G123R NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 88 Poly-Gly. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CCAGTACCTCCTCCTCCACTG 0.507 NA 11 138 0 0 0.008291 0 0 SERINC3 10955 broad.mit.edu 37 20 43142612 43142613 + Missense_Mutation DNP CC CC AA TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:43142612_43142613CC>AA uc002xme.2 - 2 242_243 c.108_109GG>TT c.(106-111)ACGGTG>ACTTTG p.V37L SERINC3_uc002xmf.1_Missense_Mutation_p.V37L|SERINC3_uc010ggs.1_Missense_Mutation_p.V30L|SERINC3_uc010zwp.1_5'UTR NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 37 Extracellular (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) AGGCGAGTCACCGTGGAATTCT 0.47 NA 9 99 0 0 0.004672 0 0 ZNF335 63925 broad.mit.edu 37 20 44590736 44590736 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:44590736C>A uc002xqw.2 - 10 1742 c.1619G>T c.(1618-1620)CGG>CTG p.R540L ZNF335_uc010zxk.1_Missense_Mutation_p.R385L NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 540 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) AGCGGCGTGCCGAATGACGTC 0.627 NA 13 65 9.31168e-06 1.20604e-05 0.001855 1 0 PSMA7 5688 broad.mit.edu 37 20 60715998 60715998 + Silent SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:60715998A>T uc002ybx.1 - 2 214 c.99T>A c.(97-99)GTT>GTA p.V33V PSMA7_uc002yby.1_RNA|SS18L1_uc011aaa.1_5'Flank|SS18L1_uc002ybz.1_5'Flank|SS18L1_uc002yca.1_5'Flank|SS18L1_uc002ycb.2_5'Flank NM_002792 NP_002783 O14818 PSA7_HUMAN proteasome alpha 7 subunit 33 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CTCGAACACCAACCTTTAATT 0.313 NA 5 90 0 0 0.001168 0 0 OSBPL2 9885 broad.mit.edu 37 20 60864347 60864347 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:60864347C>T uc002yck.1 + 12 1412 c.1210C>T c.(1210-1212)CTG>TTG p.L404L OSBPL2_uc002ycl.1_Silent_p.L392L|OSBPL2_uc011aah.1_Intron NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 404 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GGACTGCCGCCTGCGCCCTGA 0.607 NA 3 19 0 0 0.000248 0 0 C20orf166 128826 broad.mit.edu 37 20 61167750 61167750 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:61167750C>A uc011aaj.1 + 4 999 c.220C>A c.(220-222)CCC>ACC p.P74T NM_178463 NP_848558 Q9H1L0 CT166_HUMAN hypothetical protein LOC128826 74 0 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) TCAGCCCCAGCCCCACAGTGC 0.522 NA 13 53 7.03913e-09 1.02158e-08 0.001368 1 0 ZNF512B 57473 broad.mit.edu 37 20 62592741 62592741 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr20:62592741T>G uc002yhl.1 - 16 2402 c.2348A>C c.(2347-2349)AAG>ACG p.K783T NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 783 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) ACAGCGGTACTTCCCTGCCAG 0.602 NA 4 63 0 0 0.000248 0 0 JAM2 58494 broad.mit.edu 37 21 27066137 27066137 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:27066137C>T uc002ylp.1 + 4 856 c.311C>T c.(310-312)GCG>GTG p.A104V JAM2_uc011ace.1_Missense_Mutation_p.A104V|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.A68V|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.A104V|JAM2_uc010gli.1_Missense_Mutation_p.A104V NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 104 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 AGAAGTGATGCGGGGAAATAT 0.388 NA 14 96 0 0 0.001855 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28212681 28212681 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:28212681G>C uc002ymf.2 - 5 2034 c.1579C>G c.(1579-1581)CCG>GCG p.P527A NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 527 Disintegrin. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) TCCGCCCACGGGAAGTGTTTG 0.532 NA 4 45 0 0 0.000248 0 0 CLDN8 9073 broad.mit.edu 37 21 31587816 31587816 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:31587816G>T uc002ynu.1 - 1 503 c.428C>A c.(427-429)GCC>GAC p.A143D NM_199328 NP_955360 P56748 CLD8_HUMAN claudin 8 143 Extracellular (Potential). calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 TCTGATGATGGCATTGGCAAC 0.488 NA 5 22 1.26484e-09 1.86433e-09 0.00308 1 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933420 31933420 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:31933420A>G uc011adb.1 - 1 189 c.189T>C c.(187-189)TAT>TAC p.Y63Y NM_181614 NP_853645 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 63 intermediate filament 0 TATTTATTCAATAGAATCCAG 0.423 NA 10 179 0 0 0.008291 0 0 KRTAP8-1 337879 broad.mit.edu 37 21 32185435 32185435 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:32185435T>A uc002you.2 - 1 136 c.104A>T c.(103-105)TAC>TTC p.Y35F NM_175857 NP_787053 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 35 12 X 2 AA repeats of G-[YCGS]. intermediate filament 0 CACTGGAGAGTAGGTGCTGCC 0.572 NA 14 45 0 0 0.001855 0 0 ITSN1 6453 broad.mit.edu 37 21 35183319 35183319 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:35183319G>C uc002yta.1 + 21 2628 c.2360G>C c.(2359-2361)GGA>GCA p.G787A DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.G782A|ITSN1_uc010gmg.2_Missense_Mutation_p.G745A|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.G787A|ITSN1_uc010gmi.2_Missense_Mutation_p.G750A|ITSN1_uc010gmj.2_Missense_Mutation_p.G666A|ITSN1_uc002ysy.2_Missense_Mutation_p.G782A|ITSN1_uc002ysx.2_Missense_Mutation_p.G745A|ITSN1_uc002ytb.1_Missense_Mutation_p.G782A|ITSN1_uc002ytc.1_Missense_Mutation_p.G782A|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.G750A|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.G782A|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.G721A|ITSN1_uc002ytf.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 787 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 TGGCTTGGAGGAGAATTAAAA 0.463 NA 49 140 0 0 0.00361 0 0 PSMG1 8624 broad.mit.edu 37 21 40550484 40550484 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:40550484G>A uc002yxi.2 - 5 675 c.546C>T c.(544-546)GGC>GGT p.G182G PSMG1_uc002yxj.2_Silent_p.G161G|PSMG1_uc010gob.2_Silent_p.G95G NM_003720 NP_003711 O95456 PSMG1_HUMAN Down syndrome critical region protein 2 isoform 182 proteasome assembly endoplasmic reticulum protein binding 0 Prostate(19;8.44e-08) AAGGAAGGCTGCCGGTGGATT 0.423 NA 13 116 0 0 0.00245 0 0 ABCG1 9619 broad.mit.edu 37 21 43705992 43705992 + Silent SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:43705992T>C uc002zaq.2 + 8 967 c.861T>C c.(859-861)CTT>CTC p.L287L ABCG1_uc002zan.2_Silent_p.L289L|ABCG1_uc002zam.2_Silent_p.L265L|ABCG1_uc002zao.2_Silent_p.L284L|ABCG1_uc002zap.2_Silent_p.L287L|ABCG1_uc002zar.2_Silent_p.L298L|ABCG1_uc011aev.1_Silent_p.L298L|ABCG1_uc010gpb.1_5'UTR NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 287 Cytoplasmic (Potential).|ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) TTTTCCAGCTTTACGTCCTGA 0.423 NA 9 237 0 0 0.006214 0 0 PDE9A 5152 broad.mit.edu 37 21 44151935 44151935 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:44151935G>A uc002zbm.2 + 5 381 c.318G>A c.(316-318)CTG>CTA p.L106L PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_5'UTR|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Silent_p.L65L|PDE9A_uc002zcb.2_Silent_p.L80L|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Silent_p.L39L|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_5'UTR NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 106 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 AGAGACCACTGAGGGACAGAC 0.582 NA 11 89 0 0 0.001368 0 0 FTCD 10841 broad.mit.edu 37 21 47571634 47571634 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:47571634C>A uc002zif.2 - 5 518 c.474G>T c.(472-474)TGG>TGT p.W158C FTCD_uc002zig.2_Missense_Mutation_p.W158C|FTCD_uc002zih.2_Missense_Mutation_p.W158C|FTCD_uc010gqf.2_Missense_Mutation_p.W158C|FTCD_uc010gqg.1_Missense_Mutation_p.W27C NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 158 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) AGTCGGGCGCCCAGTCGGCCT 0.672 NA 10 35 2.17888e-05 2.78385e-05 0.006214 1 0 ZNF280A 129025 broad.mit.edu 37 22 22869861 22869861 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr22:22869861G>C uc002zwe.2 - 2 347 c.94C>G c.(94-96)CTG>GTG p.L32V LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ACATAGATCAGATCTGGATCT 0.378 NA 3 98 0 0 0.004672 0 0 MYO18B 84700 broad.mit.edu 37 22 26423257 26423257 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr22:26423257G>T uc003abz.1 + 43 7567 c.7317G>T c.(7315-7317)GTG>GTT p.V2439V MYO18B_uc003aca.1_Silent_p.V2320V|MYO18B_uc010guy.1_Silent_p.V2321V|MYO18B_uc010guz.1_Silent_p.V2319V|MYO18B_uc011aka.1_Silent_p.V1593V|MYO18B_uc011akb.1_Silent_p.V1952V|MYO18B_uc010gva.1_Silent_p.V422V|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2439 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 AGACCAAAGTGGACTTCGATG 0.562 NA 13 95 3.41278e-10 5.08325e-10 0.00499 1 0 FANCD2 2177 broad.mit.edu 37 3 10106096 10106096 + Silent SNP C C T rs138189144 byFrequency TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:10106096C>T uc003buw.2 + 22 2082 c.2004C>T c.(2002-2004)TCC>TCT p.S668S FANCD2_uc003bux.1_Silent_p.S668S|FANCD2_uc003buy.1_Silent_p.S668S|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 668 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) TAGTGGACTCCTGTGTTGTTC 0.443 NA D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 5 312 0 0 0.00245 0 0 BTD 686 broad.mit.edu 37 3 15677058 15677058 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:15677058T>A uc003cah.2 + 2 275 c.172T>A c.(172-174)TAT>AAT p.Y58N BTD_uc011avv.1_Missense_Mutation_p.Y60N|BTD_uc011avw.1_Missense_Mutation_p.Y60N|BTD_uc011avx.1_Missense_Mutation_p.Y38N NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 58 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 GGCTGAATATTATGTGGCTGC 0.562 NA 4 110 0 0 0.000248 0 0 RARB 5915 broad.mit.edu 37 3 25611292 25611292 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:25611292G>A uc011awl.1 + 4 579 c.513G>A c.(511-513)AAG>AAA p.K171K RARB_uc003cdi.1_Silent_p.K52K|RARB_uc003cdh.2_Silent_p.K164K NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 171 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGACTTCGAAGCAAGAATGCA 0.507 NA 4 55 0 0 0.000248 0 0 NEK10 152110 broad.mit.edu 37 3 27204002 27204002 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:27204002C>A uc010hfk.2 - 10 1125 c.896G>T c.(895-897)TGG>TTG p.W299L NEK10_uc003cds.1_Missense_Mutation_p.W384L|NEK10_uc010hfj.2_Intron Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 987 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 ATGGGACTGCCACCCTGTCAC 0.463 NA 5 74 1.23904e-05 1.59024e-05 0.000602 1 0 MYD88 4615 broad.mit.edu 37 3 38182678 38182678 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:38182678C>T uc003chx.2 + 5 1039 c.855C>T c.(853-855)TTC>TTT p.F285F MYD88_uc011ayi.1_Silent_p.F277F|MYD88_uc011ayj.1_3'UTR|MYD88_uc011ayk.1_3'UTR|MYD88_uc011ayl.1_Silent_p.F232F NM_002468 NP_002459 Q99836 MYD88_HUMAN myeloid differentiation primary response gene 264 TIR. 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(93)|breast(1) 94 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGAAAGAGTTCCCCAGCATCC 0.562 NA Mis ABC-DLBCL 23 103 0 0 0.002299 0 0 CCR8 1237 broad.mit.edu 37 3 39374724 39374724 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:39374724C>A uc010hhr.2 + 2 1040 c.902C>A c.(901-903)GCT>GAT p.A301D CCR8_uc003cjm.2_Missense_Mutation_p.A218D NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 301 Helical; Name=7; (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) GTTATCTATGCTTTTGTTGGG 0.423 NA 10 88 9.70103e-10 1.43738e-09 0.008291 1 0 FYCO1 79443 broad.mit.edu 37 3 46009082 46009082 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:46009082G>T uc003cpb.3 - 8 1950 c.1744C>A c.(1744-1746)CAA>AAA p.Q582K FYCO1_uc011bal.1_Missense_Mutation_p.Q582K NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 582 transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CAGGCCTCTTGCAGACTGGAG 0.637 NA 10 96 7.48243e-07 1.01075e-06 0.006214 1 0 SETD2 29072 broad.mit.edu 37 3 47162939 47162939 + Nonsense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:47162939T>A uc003cqs.2 - 3 3240 c.3187A>T c.(3187-3189)AGA>TGA p.R1063* SETD2_uc003cqv.2_Nonsense_Mutation_p.R1052* NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1063 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AGACGGTTTCTTGGAATACTG 0.393 NA N|F|S|Mis clear cell renal carcinoma 12 84 0 0 0.001368 0 0 TRAIP 10293 broad.mit.edu 37 3 49866942 49866942 + Splice_Site SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:49866942C>A uc003cxs.1 - 14 1343 c.1237_splice c.e14-1 p.V413_splice TRAIP_uc010hla.1_Splice_Site_p.V314_splice NM_005879 NP_005870 Q9BWF2 TRAIP_HUMAN TRAF interacting protein cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGTCCTTACCTAGGGTGGAA 0.577 NA 4 54 0.000602214 0.000713082 0.000602 1 0 TLR9 54106 broad.mit.edu 37 3 52257634 52257634 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:52257634A>G uc003dda.1 - 2 1332 c.698T>C c.(697-699)GTC>GCC p.V233A TLR9_uc003ddb.2_Missense_Mutation_p.V330A NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 233 LRR 7.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CGCCAGTTTGACGATGCGGTT 0.607 NA 3 23 0 0 0.004672 0 0 ITIH3 3699 broad.mit.edu 37 3 52836352 52836352 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:52836352C>T uc003dfv.2 + 12 1422 c.1386C>T c.(1384-1386)GGC>GGT p.G462G ITIH3_uc011bek.1_Silent_p.G462G NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 462 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AACTTCAGGGCTTCTATGAGG 0.607 NA 3 32 0 0 0.004672 0 0 CNTN3 5067 broad.mit.edu 37 3 74350797 74350797 + Splice_Site SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:74350797C>G uc003dpm.1 - 14 2025 c.1945_splice c.e14+1 p.V649_splice NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCCTGCTTTACCTGTTGTGAC 0.443 NA 3 57 0 0 0.004672 0 0 IGSF11 152404 broad.mit.edu 37 3 118621429 118621429 + Nonsense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:118621429C>A uc003ebw.2 - 7 1481 c.1234G>T c.(1234-1236)GAA>TAA p.E412* IGSF11_uc011biv.1_Nonsense_Mutation_p.E384*|IGSF11_uc003ebx.2_Nonsense_Mutation_p.E388*|IGSF11_uc003eby.2_Nonsense_Mutation_p.E411*|IGSF11_uc003ebz.2_Nonsense_Mutation_p.E387*|IGSF11_uc010hqs.2_Nonsense_Mutation_p.E411* NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 412 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 CCAATTCGTTCCAGTGTTGCG 0.522 NA 16 128 2.23348e-06 2.98149e-06 0.004007 1 0 HEG1 57493 broad.mit.edu 37 3 124739887 124739887 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:124739887A>T uc003ehs.3 - 4 1069 c.1001T>A c.(1000-1002)GTG>GAG p.V334E HEG1_uc011bke.1_Missense_Mutation_p.V334E NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 334 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 ATCAGTGAACACGGTGGCAAC 0.512 NA 4 18 0 0 0.000248 0 0 DNAJC13 23317 broad.mit.edu 37 3 132218620 132218620 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:132218620C>T uc003eor.2 + 38 4449 c.4384C>T c.(4384-4386)CGT>TGT p.R1462C NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1462 heat shock protein binding ovary(1)|breast(1) 2 TGTCTTGACTCGTGCTAGTAA 0.383 NA 12 276 0 0 0.001855 0 0 EPHB1 2047 broad.mit.edu 37 3 134920438 134920438 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:134920438G>T uc003eqt.2 + 12 2473 c.2253G>T c.(2251-2253)CTG>CTT p.L751L EPHB1_uc003equ.2_Silent_p.L312L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 751 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GGAACATTCTGGTCAACAGTA 0.552 NA 29 139 2.12542e-12 3.36029e-12 0.00632 1 0 SR140 23350 broad.mit.edu 37 3 142741358 142741358 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:142741358G>T uc003evh.1 + 11 971 c.872G>T c.(871-873)TGC>TTC p.C291F SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.C291F|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.C290F NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 291 RRM. RNA processing nucleus nucleotide binding|RNA binding 0 GAAATGCTGTGCCAAGAATTT 0.348 Colon(87;897 1320 15089 19747 35974) NA 5 151 8.12818e-05 9.95791e-05 0.001984 1 0 ZIC1 7545 broad.mit.edu 37 3 147131311 147131311 + Silent SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:147131311T>A uc003ewe.2 + 3 2036 c.1317T>A c.(1315-1317)TCT>TCA p.S439S NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 439 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTGCGCTCTCTTCCAATTTTA 0.478 NA 11 58 0 0 0.000978 0 0 CPA3 1359 broad.mit.edu 37 3 148596504 148596504 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:148596504C>A uc003ewm.2 + 5 495 c.443C>A c.(442-444)ACT>AAT p.T148N NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 148 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) ATTGGATCTACTGTTGAAGAT 0.294 NA 25 116 3.28513e-13 5.26737e-13 0.003954 1 0 VEPH1 79674 broad.mit.edu 37 3 156979109 156979109 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:156979109C>T uc003fbj.1 - 14 2633 c.2316G>A c.(2314-2316)GTG>GTA p.V772V VEPH1_uc003fbk.1_Silent_p.V772V|VEPH1_uc010hvu.1_Silent_p.V727V NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 772 PH. plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CCACAGCCTTCACACTCTGTA 0.488 NA 4 67 0 0 0.000248 0 0 SI 6476 broad.mit.edu 37 3 164735354 164735354 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:164735354C>A uc003fei.2 - 31 3803 c.3741G>T c.(3739-3741)GTG>GTT p.V1247V NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1247 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTAGCAGCCACCATAGCGT 0.338 NA HNSCC(35;0.089) 6 42 0.00198382 0.0022822 0.001984 1 0 PLD1 5337 broad.mit.edu 37 3 171395446 171395446 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:171395446C>T uc003fhs.2 - 17 2022 c.1906G>A c.(1906-1908)GAG>AAG p.E636K PLD1_uc003fht.2_Missense_Mutation_p.E598K|PLD1_uc003fhv.1_5'UTR NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 636 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CCATGCAGCTCTCCCACACCT 0.498 NSCLC(149;2174 3517 34058) NA 4 122 0 0 0.000248 0 0 ZNF639 51193 broad.mit.edu 37 3 179051750 179051750 + Missense_Mutation SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:179051750A>C uc003fjq.1 + 6 1341 c.998A>C c.(997-999)CAT>CCT p.H333P ZNF639_uc003fjr.1_Missense_Mutation_p.H333P NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 333 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GAAGACTTGCATAGCCATGTG 0.383 NA 10 90 0 0 0.006214 0 0 ECE2 9718 broad.mit.edu 37 3 183967486 183967486 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:183967486G>A uc003fni.3 + 1 42 c.4G>A c.(4-6)GCC>ACC p.A2T ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc003fnf.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.3_Missense_Mutation_p.A2T NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 2 Cytoplasmic (Potential).|Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGAGAGCATGGCCTCTCCAGG 0.682 NA OREG0015944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 21 0 0 0.000248 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043360 184043360 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:184043360C>G uc003fnp.2 + 20 3252 c.3054C>G c.(3052-3054)ATC>ATG p.I1018M EIF4G1_uc003fnt.2_Missense_Mutation_p.I729M|EIF4G1_uc003fnq.2_Missense_Mutation_p.I931M|EIF4G1_uc003fnr.2_Missense_Mutation_p.I854M|EIF4G1_uc010hxx.2_Missense_Mutation_p.I1025M|EIF4G1_uc003fns.2_Missense_Mutation_p.I978M|EIF4G1_uc010hxy.2_Missense_Mutation_p.I1025M|EIF4G1_uc003fnv.3_Missense_Mutation_p.I1019M|EIF4G1_uc003fnu.3_Missense_Mutation_p.I1018M|EIF4G1_uc003fnw.2_Missense_Mutation_p.I1025M|EIF4G1_uc003fnx.2_Missense_Mutation_p.I823M|EIF4G1_uc003fny.3_Missense_Mutation_p.I822M|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1018 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGAGCACATCAAAGTGCAGC 0.582 NA 16 95 0 0 0.003163 0 0 FAM131A 131408 broad.mit.edu 37 3 184060021 184060021 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:184060021G>C uc003fog.2 + 1 1764 c.400G>C c.(400-402)GCT>CCT p.A134P FAM131A_uc003fob.1_Missense_Mutation_p.A42P|FAM131A_uc003foc.2_Missense_Mutation_p.A80P|FAM131A_uc003foe.2_Missense_Mutation_p.A80P NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 134 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGAACAAGAGGCTCGCTTTGC 0.463 NA 3 106 0 0 0.004672 0 0 SENP2 59343 broad.mit.edu 37 3 185347571 185347571 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr3:185347571A>G uc003fpn.2 + 17 1880 c.1709A>G c.(1708-1710)CAC>CGC p.H570R SENP2_uc011brv.1_Missense_Mutation_p.H560R|SENP2_uc011brw.1_Missense_Mutation_p.H383R NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 570 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TCTTTGCAGCACCAGATGCCT 0.473 NA 4 92 0 0 0.000602 0 0 PDE6B 5158 broad.mit.edu 37 4 619540 619540 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:619540C>A uc003gap.2 + 1 178 c.125C>A c.(124-126)CCG>CAG p.P42Q PDE6B_uc003gao.3_Missense_Mutation_p.P42Q NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 42 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 GGGTGCCCGCCGGACTGCGAC 0.517 GBM(71;463 1194 9848 25922 46834) NA 6 53 0.00116845 0.00135799 0.001168 1 0 RGS12 6002 broad.mit.edu 37 4 3429845 3429845 + Silent SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:3429845A>T uc003ggw.2 + 15 4264 c.3360A>T c.(3358-3360)CCA>CCT p.P1120P RGS12_uc003ggv.2_Silent_p.P1120P|RGS12_uc003ggy.1_Silent_p.P518P|RGS12_uc003ggz.2_Silent_p.P472P|RGS12_uc010icu.1_Silent_p.P319P|RGS12_uc011bvs.1_Silent_p.P462P|RGS12_uc003gha.2_Silent_p.P462P|RGS12_uc010icv.2_Silent_p.P319P|RGS12_uc003ghb.2_Silent_p.P319P NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1120 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAGGTGTGCCAGTGAAACAGA 0.502 NA 10 163 0 0 0.008291 0 0 MSX1 4487 broad.mit.edu 37 4 4864535 4864535 + Missense_Mutation SNP C C A rs104893850 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:4864535C>A uc003gif.2 + 2 812 c.577C>A c.(577-579)CAG>AAG p.Q193K NM_002448 NP_002439 P28360 MSX1_HUMAN msh homeobox 1 187 Homeobox. apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CAAGTTCCGCCAGAAGCAGTA 0.652 NA 7 70 8.12818e-05 9.95791e-05 0.001984 1 0 STK32B 55351 broad.mit.edu 37 4 5333033 5333033 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:5333033T>A uc003gih.1 + 4 411 c.347T>A c.(346-348)GTG>GAG p.V116E STK32B_uc010ida.1_Missense_Mutation_p.V69E NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 116 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CAGCAGAATGTGCATTTCACA 0.547 NA 5 48 0 0 0.000602 0 0 ARAP2 116984 broad.mit.edu 37 4 36179480 36179481 + Missense_Mutation DNP CC CC AT TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:36179480_36179481CC>AT uc003gsq.1 - 9 2163_2164 c.1825_1826GG>AT c.(1825-1827)GGA>ATA p.G609I ARAP2_uc003gsr.1_Missense_Mutation_p.G609I NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 609 PH 2. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CACACTGTTTCCACTTAACACA 0.366 NA 9 81 0 0 0.004672 0 0 CORIN 10699 broad.mit.edu 37 4 47625744 47625744 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:47625744G>A uc003gxm.2 - 19 2477 c.2384C>T c.(2383-2385)GCT>GTT p.A795V CORIN_uc011bzf.1_Missense_Mutation_p.A656V|CORIN_uc011bzg.1_Missense_Mutation_p.A728V NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 795 Extracellular (Potential).|SRCR. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CATTCGGGCAGCAGGGCGGCG 0.532 NA 4 64 0 0 0.000602 0 0 SRD5A3 79644 broad.mit.edu 37 4 56230429 56230429 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:56230429G>C uc003hau.2 + 3 648 c.553G>C c.(553-555)GGC>CGC p.G185R uc003hav.1_RNA NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 185 Cytoplasmic (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) GCCAATGGATGGCAGGAATGG 0.522 NA 5 43 0 0 0.000602 0 0 LPHN3 23284 broad.mit.edu 37 4 62775293 62775293 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:62775293A>G uc010ihh.2 + 9 1872 c.1699A>G c.(1699-1701)ACA>GCA p.T567A LPHN3_uc003hcq.3_Missense_Mutation_p.T567A|LPHN3_uc003hct.2_5'UTR|LPHN3_uc003hcs.1_Missense_Mutation_p.T396A NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 567 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ATCTGGTGAAACAGCTGCCAA 0.408 NA 4 26 0 0 0.000248 0 0 CSN1S1 1446 broad.mit.edu 37 4 70802196 70802196 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:70802196G>A uc003hep.1 + 6 201 c.152G>A c.(151-153)AGG>AAG p.R51K CSN1S1_uc003heq.1_Missense_Mutation_p.R51K|CSN1S1_uc003her.1_Missense_Mutation_p.R51K NM_001890 NP_001881 P47710 CASA1_HUMAN casein alpha s1 isoform 1 51 extracellular region protein binding|transporter activity 0 GGTATGAACAGGGTAAGAAAC 0.274 NA 4 41 0 0 0.001168 0 0 NUP54 53371 broad.mit.edu 37 4 77057381 77057381 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:77057381C>A uc003hjs.2 - 4 608 c.480G>T c.(478-480)CCG>CCT p.P160P NUP54_uc010ije.2_Intron|NUP54_uc011cbs.1_Intron|NUP54_uc011cbt.1_Silent_p.P112P|NUP54_uc003hjt.2_Intron NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 160 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ovary(1)|lung(1) 2 ATTCCACTGGCGGAATATTAT 0.348 NA 8 89 0.00448238 0.00511498 0.004482 1 0 WDFY3 23001 broad.mit.edu 37 4 85731418 85731418 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:85731418G>C uc003hpd.2 - 14 2375 c.1967C>G c.(1966-1968)TCC>TGC p.S656C WDFY3_uc003hpf.2_Missense_Mutation_p.S656C NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 656 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AACGAGCAAGGATGTAATGTA 0.438 NA 5 50 0 0 0.000602 0 0 SNCA 6622 broad.mit.edu 37 4 90743475 90743476 + Missense_Mutation DNP TG TG CC TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:90743475_90743476TG>CC uc003hsq.2 - 4 486_487 c.227_228CA>GG c.(226-228)GCA>GGG p.A76G SNCA_uc010ikt.2_Missense_Mutation_p.A62G|SNCA_uc003hso.2_Missense_Mutation_p.A76G|SNCA_uc003hsp.2_Missense_Mutation_p.A76G|SNCA_uc003hsr.2_Missense_Mutation_p.A76G NM_001146054 NP_001139526 P37840 SYUA_HUMAN alpha-synuclein isoform NACP140 76 Missing: Impairs polymerization into amyloid fibrils.|Missing: Impairs polymerization into amyloid fibrils.|Missing: Does not affect polymerization into amyloid fibrils. activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) TCTGGGCTACTGCTGTCACACC 0.505 NA 3 53 0 0 0.004672 0 0 ADH6 130 broad.mit.edu 37 4 100131598 100131598 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:100131598A>G uc003hup.3 - 4 418 c.324T>C c.(322-324)TCT>TCC p.S108S uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.S108S|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Silent_p.S108S NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 108 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) AATTGCCCTCAGAATTCAGGC 0.303 NA 7 90 0 0 0.004482 0 0 MTTP 4547 broad.mit.edu 37 4 100532599 100532599 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:100532599C>T uc003hvc.3 + 15 2234 c.1978C>T c.(1978-1980)CAC>TAC p.H660Y MTTP_uc011cej.1_Missense_Mutation_p.H687Y NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 660 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GGCTGGTCTTCACGGTAGCCA 0.413 NA 9 115 0 0 0.008291 0 0 BANK1 55024 broad.mit.edu 37 4 102942739 102942739 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:102942739A>G uc003hvy.3 + 8 1549 c.1275A>G c.(1273-1275)ACA>ACG p.T425T BANK1_uc003hvx.3_Silent_p.T410T|BANK1_uc010ill.2_Silent_p.T292T|BANK1_uc003hvz.3_Silent_p.T395T NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 425 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CATTTTCCACATATATTCCTT 0.219 NA 3 18 0 0 0.004672 0 0 TACR3 6870 broad.mit.edu 37 4 104511146 104511146 + Missense_Mutation SNP C C T rs150288991 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:104511146C>T uc003hxe.1 - 5 1234 c.1091G>A c.(1090-1092)CGA>CAA p.R364Q NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 364 Cytoplasmic (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GAAGCCAGCTCGAAATCTGAG 0.428 NA 7 30 0 0 0.001984 0 0 FAT4 79633 broad.mit.edu 37 4 126411064 126411064 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:126411064G>C uc003ifj.3 + 17 13087 c.13087G>C c.(13087-13089)GAT>CAT p.D4363H FAT4_uc011cgp.1_Missense_Mutation_p.D2604H|FAT4_uc003ifi.1_Missense_Mutation_p.D1840H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4363 Laminin G-like 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGCAGGTTTTGATGGCTGCAT 0.408 NA 18 178 0 0 0.006122 0 0 VEGFC 7424 broad.mit.edu 37 4 177649043 177649043 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:177649043C>T uc003ius.1 - 3 871 c.441G>A c.(439-441)GCG>GCA p.A147A NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 147 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AGGTGTTTGTCGCGACTCCAA 0.498 NA 15 69 0 0 0.00499 0 0 FAT1 2195 broad.mit.edu 37 4 187522452 187522452 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:187522452C>T uc003izf.2 - 21 11799 c.11611G>A c.(11611-11613)GCT>ACT p.A3871T NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3871 Extracellular (Potential).|Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTTCCTCGAGCATACATGACA 0.398 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 10 45 0 0 0.008291 0 0 EXOC3 11336 broad.mit.edu 37 5 466932 466932 + Silent SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:466932A>T uc003jba.2 + 13 2285 c.2157A>T c.(2155-2157)CCA>CCT p.P719P uc003jbb.1_5'Flank NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 730 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGCAGGGCCCAGCACAGGCCA 0.657 NA 7 17 0 0 0.00308 0 0 CAPSL 133690 broad.mit.edu 37 5 35910605 35910605 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:35910605C>A uc003jjt.1 - 3 273 c.178G>T c.(178-180)GAT>TAT p.D60Y CAPSL_uc003jju.1_Missense_Mutation_p.D60Y NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 60 EF-hand 1.|1 (Potential). cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TCTTTAAAATCAAGGGTTCGA 0.323 NA 6 61 2.7689e-08 3.92781e-08 0.001984 1 0 ACTBL2 345651 broad.mit.edu 37 5 56777979 56777979 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:56777979G>T uc003jrm.2 - 1 658 c.556C>A c.(556-558)CTG>ATG p.L186M NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 186 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) TAATCAGTCAGGTCTCTCCCT 0.527 NA 4 81 0.00024832 0.000299041 0.000248 1 0 ARSK 153642 broad.mit.edu 37 5 94922387 94922387 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:94922387A>G uc003kld.2 + 5 979 c.821A>G c.(820-822)AAT>AGT p.N274S ARSK_uc010jbg.2_Missense_Mutation_p.N115S|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 274 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) GAAATTAAGAATATTAGAGCA 0.308 NA 7 52 0 0 0.00308 0 0 FBXL21 26223 broad.mit.edu 37 5 135276978 135276978 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:135276978C>T uc010jec.1 + 5 944 c.923C>T c.(922-924)ACG>ATG p.T308M FBXL21_uc003lbc.2_Intron NM_012159 NP_036291 Q9UKT6 FXL21_HUMAN F-box and leucine-rich repeat protein 21 308 rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAATTCGAGACGTTCTTCAAA 0.393 NA 7 92 0 0 0.001984 0 0 KLHL3 26249 broad.mit.edu 37 5 136969802 136969802 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:136969802G>A uc010jek.2 - 12 1818 c.1374C>T c.(1372-1374)AGC>AGT p.S458S KLHL3_uc011cyc.1_Silent_p.S193S|KLHL3_uc003lbr.3_Silent_p.S376S|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Silent_p.S193S NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 458 Kelch 4. cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GCTCCACAGTGCTCAGACACT 0.567 NA 21 101 0 0 0.001523 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215061 140215061 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:140215061C>G uc003lhq.2 + 1 1093 c.1093C>G c.(1093-1095)CCA>GCA p.P365A 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_Missense_Mutation_p.P365A NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 365 Cadherin 4.|Extracellular (Potential). 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) GGACGCCCAACCAGGTACCGT 0.502 NSCLC(160;258 2013 5070 22440 28951) NA 7 147 0 0 0.001984 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482066 140482066 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:140482066G>T uc003lio.2 + 1 1833 c.1833G>T c.(1831-1833)GAG>GAT p.E611D uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 611 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCCACGGAGCCCGGGCTGT 0.706 NA 8 99 1.06961e-07 1.49482e-07 0.00308 1 0 PCDHB8 56128 broad.mit.edu 37 5 140559195 140559195 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:140559195C>A uc011dai.1 + 1 1766 c.1580C>A c.(1579-1581)GCG>GAG p.A527E PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 527 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCTGCAGGCGTTCGAGTTC 0.687 NA 13 233 3.45872e-05 4.37949e-05 0.004007 1 0 SLC25A2 83884 broad.mit.edu 37 5 140683346 140683346 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:140683346G>A uc003ljf.2 - 1 267 c.87C>T c.(85-87)CCC>CCT p.P29P NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 29 Solcar 1. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) TTGTGTCGAAGGGCTGCCCAG 0.602 NA 9 57 0 0 0.004482 0 0 GRIA1 2890 broad.mit.edu 37 5 153029928 153029928 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:153029928G>C uc003lva.3 + 4 864 c.499G>C c.(499-501)GAG>CAG p.E167Q GRIA1_uc003luy.3_Missense_Mutation_p.E167Q|GRIA1_uc003luz.3_Missense_Mutation_p.E72Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E87Q|GRIA1_uc011dcx.1_Missense_Mutation_p.E98Q|GRIA1_uc011dcy.1_Missense_Mutation_p.E177Q|GRIA1_uc011dcz.1_Missense_Mutation_p.E177Q|GRIA1_uc010jia.1_Missense_Mutation_p.E147Q NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 167 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACAGCTGCTGAGAAGAACTG 0.498 NA 3 87 0 0 0.000248 0 0 CDHR2 54825 broad.mit.edu 37 5 176022636 176022636 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:176022636C>A uc003mem.1 + 32 3962 c.3896C>A c.(3895-3897)TCC>TAC p.S1299Y CDHR2_uc003men.1_Missense_Mutation_p.S1299Y NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 1299 Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GAGGGGCCATCCTACACCAAC 0.637 NA 24 97 7.01153e-11 1.06968e-10 0.007291 1 0 TMED9 54732 broad.mit.edu 37 5 177020659 177020659 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:177020659G>A uc003mhx.2 + 3 297 c.294G>A c.(292-294)CTG>CTA p.L98L TMED9_uc010jko.2_RNA NM_017510 NP_059980 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain 98 GOLD.|Lumenal (Potential). transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGTCATCCTGGCCCGGCAGT 0.502 NA 13 147 0 0 0.00245 0 0 FAM153C 653316 broad.mit.edu 37 5 177468724 177468724 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:177468724C>T uc011dge.1 + 7 365 c.164C>T c.(163-165)CCA>CTA p.P55L FAM153C_uc003mig.1_Missense_Mutation_p.P55L NM_001079527 NP_001072995 hypothetical protein LOC653316 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCATCTGCCAGGGCAGACA 0.493 NA 28 286 0 0 0.007291 0 0 EXOC2 55770 broad.mit.edu 37 6 633069 633069 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:633069G>C uc003mtd.2 - 3 301 c.167C>G c.(166-168)TCT>TGT p.S56C EXOC2_uc003mte.2_Missense_Mutation_p.S56C|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 56 IPT/TIG. exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TTTACTTGCAGACATCCATTC 0.413 NA 4 111 0 0 0.000248 0 0 MAK 4117 broad.mit.edu 37 6 10764813 10764813 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:10764813G>T uc003mzl.2 - 13 1973 c.1744C>A c.(1744-1746)CGG>AGG p.R582R SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.R582R NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 582 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) AACTGCCCCCGACCAGTTTTT 0.398 NA 30 94 4.3181e-19 7.29565e-19 0.002836 1 0 MYLIP 29116 broad.mit.edu 37 6 16145361 16145361 + Nonsense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:16145361C>G uc003nbq.2 + 6 1298 c.1061C>G c.(1060-1062)TCA>TGA p.S354* MYLIP_uc003nbr.2_Nonsense_Mutation_p.S173* NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting 354 cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) CTGAAGTCCTCAGAAAGCAGC 0.577 NA 17 95 0 0 0.00499 0 0 KIAA0319 9856 broad.mit.edu 37 6 24582479 24582479 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:24582479G>C uc011djo.1 - 6 1426 c.1189C>G c.(1189-1191)CAA>GAA p.Q397E KIAA0319_uc011djp.1_Missense_Mutation_p.Q352E|KIAA0319_uc003neh.1_Missense_Mutation_p.Q397E|KIAA0319_uc011djq.1_Missense_Mutation_p.Q388E|KIAA0319_uc011djr.1_Missense_Mutation_p.Q397E|KIAA0319_uc010jpt.1_5'UTR NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 397 PKD 1.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 TTACTTACTTGAGAGAGGTTA 0.403 NA 9 158 0 0 0.004482 0 0 TRIM10 10107 broad.mit.edu 37 6 30124730 30124730 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:30124730A>G uc003npo.3 - 5 957 c.881T>C c.(880-882)ATG>ACG p.M294T TRIM10_uc003npn.2_Missense_Mutation_p.M294T NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 294 B30.2/SPRY. cytoplasm zinc ion binding 0 AAACATCTTCATCTCCCTCTG 0.413 NA 11 40 0 0 0.008291 0 0 DEF6 50619 broad.mit.edu 37 6 35280244 35280244 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:35280244G>T uc003okk.2 + 4 628 c.589G>T c.(589-591)GTG>TTG p.V197L DEF6_uc010jvs.2_Missense_Mutation_p.V197L|DEF6_uc010jvt.2_Intron NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 197 cytoplasm|nucleus|plasma membrane 0 CCTGCGGGGCGTGGGCCGGGA 0.657 NA 10 40 1.76689e-08 2.52541e-08 0.006214 1 0 LRFN2 57497 broad.mit.edu 37 6 40400795 40400795 + Missense_Mutation SNP C C A rs149939756 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:40400795C>A uc003oph.1 - 2 523 c.58G>T c.(58-60)GCC>TCC p.A20S NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 20 cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TTGGGGCAGGCGTCGACCACG 0.602 NA 9 48 7.48243e-07 1.01075e-06 0.006214 1 0 BYSL 705 broad.mit.edu 37 6 41897940 41897940 + Nonsense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:41897940G>T uc003orl.2 + 3 838 c.502G>T c.(502-504)GAG>TAG p.E168* NM_004053 NP_004044 Q13895 BYST_HUMAN bystin 168 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGTCATGTCAGAGGTGTCGGG 0.597 NA 8 68 0.00448238 0.00511498 0.004482 1 0 CRISP3 10321 broad.mit.edu 37 6 49698963 49698963 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:49698963C>A uc003ozs.2 - 7 538 c.523G>T c.(523-525)GGT>TGT p.G175C NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 175 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GCCCAATTACCACTGAAATTT 0.333 NA 11 70 0.000673444 0.000794103 0.008291 1 0 PAQR8 85315 broad.mit.edu 37 6 52268474 52268474 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:52268474C>G uc003pao.3 + 2 637 c.463C>G c.(463-465)CAA>GAA p.Q155E NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 155 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) GAGCGTTTACCAATATGGCAG 0.532 NA 11 188 0 0 0.008291 0 0 DST 667 broad.mit.edu 37 6 56765373 56765373 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:56765373G>T uc003pdf.2 - 3 291 c.263C>A c.(262-264)GCC>GAC p.A88D NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:Variant_position_missing_in_Q03001_after_alignment cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGCAGCTGCGGCCGCTGCAAC 0.502 NA 20 92 1.01871e-10 1.54998e-10 0.008871 1 0 DDX43 55510 broad.mit.edu 37 6 74123487 74123487 + Missense_Mutation SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:74123487T>C uc003pgw.2 + 12 1819 c.1475T>C c.(1474-1476)GTC>GCC p.V492A NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 492 Helicase C-terminal. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 AAAGTCATTGTCTTCGTTTCT 0.323 NA 9 58 0 0 0.001368 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378474 114378474 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:114378474G>C uc003pwg.3 - 2 1020 c.988C>G c.(988-990)CCT>GCT p.P330A uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.P330A NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 330 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TGATTAAAAGGATGAAAGAAT 0.408 NA 7 72 0 0 0.00308 0 0 RFX6 222546 broad.mit.edu 37 6 117249929 117249929 + Silent SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:117249929T>C uc003pxm.2 + 18 2469 c.2406T>C c.(2404-2406)TAT>TAC p.Y802Y NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 802 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 CAGGATACTATGGAAGCAACA 0.423 NA 7 62 0 0 0.001984 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762164 130762164 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:130762164C>T uc003qca.2 + 3 1468 c.597C>T c.(595-597)AGC>AGT p.S199S TMEM200A_uc010kfh.2_Silent_p.S199S|TMEM200A_uc010kfi.2_Silent_p.S199S|TMEM200A_uc003qcb.2_Silent_p.S199S NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 199 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGAATGGGAGCTCCTGTGCCT 0.473 NA 7 35 0 0 0.00308 0 0 BCLAF1 9774 broad.mit.edu 37 6 136594278 136594278 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:136594278A>T uc003qgx.1 - 7 2153 c.1900T>A c.(1900-1902)TCG>ACG p.S634T BCLAF1_uc003qgw.1_Missense_Mutation_p.S461T|BCLAF1_uc003qgy.1_Missense_Mutation_p.S632T|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S632T NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 634 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTCTGATACGAAGTGAACCGC 0.393 Colon(142;1534 1789 5427 7063 28491) NA 10 317 0 0 0.008291 0 0 PNLDC1 154197 broad.mit.edu 37 6 160240112 160240112 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr6:160240112C>A uc003qsx.1 + 17 1530 c.1359C>A c.(1357-1359)CTC>CTA p.L453L PNLDC1_uc003qsy.1_Silent_p.L464L NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 453 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TCAGGCGACTCACAAGAAGCC 0.522 NA 12 80 3.07112e-06 4.06134e-06 0.000978 1 0 SLC29A4 222962 broad.mit.edu 37 7 5340083 5340083 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:5340083G>A uc003sod.2 + 10 1401 c.1240G>A c.(1240-1242)GGC>AGC p.G414S SLC29A4_uc003soc.2_Missense_Mutation_p.G414S|SLC29A4_uc003soe.2_Missense_Mutation_p.G400S|SLC29A4_uc010ksw.2_Intron NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 414 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GGACTGGCGGGGCACCCACCT 0.711 NA 13 58 0 0 0.00245 0 0 DAGLB 221955 broad.mit.edu 37 7 6449551 6449551 + Missense_Mutation SNP G G A rs138713047 by1000genomes TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:6449551G>A uc003sqa.2 - 15 2106 c.1936C>T c.(1936-1938)CGG>TGG p.R646W DAGLB_uc003spy.2_Missense_Mutation_p.R192W|DAGLB_uc003spz.2_Missense_Mutation_p.R343W|DAGLB_uc011jwt.1_Missense_Mutation_p.R460W|DAGLB_uc011jwu.1_Missense_Mutation_p.R517W|DAGLB_uc003sqb.2_Missense_Mutation_p.R365W|DAGLB_uc003sqc.2_Missense_Mutation_p.R365W|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.R605W NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 646 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TCCAAGGCCCGCATCAGGATG 0.587 NA 7 78 0 0 0.001984 0 0 AHR 196 broad.mit.edu 37 7 17375401 17375401 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:17375401G>A uc011jxz.1 + 9 1764 c.1151G>A c.(1150-1152)AGA>AAA p.R384K AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 384 PAC. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) GTAACTCAGAGACCACTAACG 0.353 NA 6 33 0 0 0.004482 0 0 NUPL2 11097 broad.mit.edu 37 7 23221741 23221741 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:23221741C>T uc003svu.2 + 1 296 c.37C>T c.(37-39)CGC>TGC p.R13C NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_5'UTR|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 13 C3H1-type. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 AGGCCGGTGCCGCTTTGGAGA 0.602 NA 7 33 0 0 0.001984 0 0 GPNMB 10457 broad.mit.edu 37 7 23299726 23299726 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:23299726C>T uc003swc.2 + 5 830 c.669C>T c.(667-669)ATC>ATT p.I223I GPNMB_uc003swb.2_Silent_p.I223I|GPNMB_uc011jyy.1_Silent_p.I165I|GPNMB_uc011jyz.1_Silent_p.I124I NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 223 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) ATGTTCCCATCGCACAAGTGA 0.463 NA 14 124 0 0 0.003163 0 0 OSBPL3 26031 broad.mit.edu 37 7 24874132 24874132 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:24874132C>A uc003sxf.2 - 15 2124 c.1719G>T c.(1717-1719)GCG>GCT p.A573A OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.A537A|OSBPL3_uc003sxh.2_Silent_p.A542A|OSBPL3_uc003sxi.2_Silent_p.A506A|OSBPL3_uc003sxj.1_Silent_p.A302A|OSBPL3_uc003sxk.1_Silent_p.A271A NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 573 lipid transport lipid binding|protein binding skin(1) 1 TGGGAATCTGCGCGGCCTTGT 0.647 NA 7 68 8.12818e-05 9.95791e-05 0.001984 1 0 LOC402644 402644 broad.mit.edu 37 7 28319036 28319036 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:28319036G>T uc010kuz.1 - 1 283 c.283C>A c.(283-285)CCT>ACT p.P95T NM_001126493 NP_001119965 hypothetical protein LOC402644 0 AAGATGCCAGGACCTGTACGC 0.488 NA 8 56 0.000157383 0.000190747 0.00308 1 0 HECW1 23072 broad.mit.edu 37 7 43508595 43508595 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:43508595T>A uc003tid.1 + 16 3595 c.2990T>A c.(2989-2991)TTT>TAT p.F997Y HECW1_uc011kbi.1_Missense_Mutation_p.F963Y NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 997 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GCTCGCAATTTTGAACGCTAC 0.552 NA 9 61 0 0 0.004482 0 0 URGCP 55665 broad.mit.edu 37 7 43927062 43927062 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:43927062C>A uc003tiw.2 - 3 121 c.64G>T c.(64-66)GCC>TCC p.A22S URGCP_uc003tiu.2_5'UTR|URGCP_uc003tiv.2_5'UTR|URGCP_uc003tix.2_Missense_Mutation_p.A13S|URGCP_uc003tiy.2_5'UTR|URGCP_uc003tiz.2_5'UTR|URGCP_uc011kbj.1_5'UTR NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 22 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 ATTTCTGGGGCTACTTCTCCC 0.363 NA 9 62 2.17888e-05 2.78385e-05 0.006214 1 0 IGFBP1 3484 broad.mit.edu 37 7 45930284 45930284 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:45930284G>C uc003tnp.2 + 2 780 c.487G>C c.(487-489)GCT>CCT p.A163P IGFBP1_uc003tno.3_Missense_Mutation_p.A163P|IGFBP1_uc010kyn.2_Missense_Mutation_p.A163P NM_000596 NP_000587 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 163 extracellular space insulin-like growth factor binding lung(1) 1 TGGCTCGAAGGCTCTCCATGT 0.517 NA OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 94 0 0 0.004656 0 0 ZNF479 90827 broad.mit.edu 37 7 57188235 57188235 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:57188235G>T uc010kzo.2 - 5 1158 c.887C>A c.(886-888)CCC>CAC p.P296H NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) ACATTTGTAGGGTCTCTCTCC 0.473 NA 8 72 0.000442599 0.000528505 0.006214 1 0 WBSCR17 64409 broad.mit.edu 37 7 71036294 71036294 + Silent SNP G G T rs144028983 byFrequency TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:71036294G>T uc003tvy.2 + 6 987 c.987G>T c.(985-987)TCG>TCT p.S329S WBSCR17_uc003tvz.2_Silent_p.S28S NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 329 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.S329L(1) skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TAGGCTGCTCGTTCGTGGTCA 0.502 NA 11 130 3.07112e-06 4.06134e-06 0.000978 1 0 PCLO 27445 broad.mit.edu 37 7 82538271 82538271 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:82538271C>A uc003uhx.2 - 8 13648 c.13359G>T c.(13357-13359)TTG>TTT p.L4453F PCLO_uc003uhv.2_Missense_Mutation_p.L4453F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4384 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTCCATTTTCCAAACGAGACT 0.443 NA 13 75 1.36491e-13 2.20726e-13 0.001855 1 0 PCLO 27445 broad.mit.edu 37 7 82584133 82584133 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:82584133C>T uc003uhx.2 - 5 6425 c.6136G>A c.(6136-6138)GGT>AGT p.G2046S PCLO_uc003uhv.2_Missense_Mutation_p.G2046S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1977 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACCATAGTACCCAGGTCCACT 0.398 NA 5 73 0 0 0.000602 0 0 PCLO 27445 broad.mit.edu 37 7 82764398 82764398 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:82764398C>A uc003uhx.2 - 3 2757 c.2468G>T c.(2467-2469)CGA>CTA p.R823L PCLO_uc003uhv.2_Missense_Mutation_p.R823L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 769 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGATGCAGGTCGAGGTATGGC 0.438 NA 28 204 7.07758e-08 9.94022e-08 0.004656 1 0 SRI 6717 broad.mit.edu 37 7 87837825 87837825 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:87837825A>G uc003ujq.1 - 7 619 c.567T>C c.(565-567)GAT>GAC p.D189D SRI_uc011khg.1_Silent_p.D149D|SRI_uc003ujr.1_Silent_p.D174D|SRI_uc011khh.1_Silent_p.D174D NM_003130 NP_003121 P30626 SORCN_HUMAN sorcin isoform a 189 heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction sarcoplasmic reticulum membrane calcium channel regulator activity|calcium ion binding|receptor binding upper_aerodigestive_tract(1) 1 Esophageal squamous(14;0.00202) GACTTACATCATCATATGGGA 0.343 NA 4 39 0 0 0.000248 0 0 ZNF804B 219578 broad.mit.edu 37 7 88847491 88847491 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:88847491C>G uc011khi.1 + 2 669 c.131C>G c.(130-132)ACA>AGA p.T44R NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 44 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAGAAGTCCACAGCAAAGGCC 0.343 NA HNSCC(36;0.09) 8 66 0 0 0.004482 0 0 FBXL13 222235 broad.mit.edu 37 7 102608486 102608486 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:102608486T>A uc003vaq.2 - 7 1001 c.574A>T c.(574-576)AAC>TAC p.N192Y FBXL13_uc010liq.1_Missense_Mutation_p.N7Y|FBXL13_uc010lir.1_Missense_Mutation_p.N192Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.N192Y|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 192 F-box. 0 CACAGTGAGTTTAGTTGTGTC 0.373 NA 8 29 0 0 0.004482 0 0 RELN 5649 broad.mit.edu 37 7 103205757 103205757 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:103205757C>T uc003vca.2 - 34 5338 c.5178G>A c.(5176-5178)AAG>AAA p.K1726K RELN_uc010liz.2_Silent_p.K1726K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1726 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGTGATCCGCTTCCAATTCT 0.438 NSCLC(146;835 1944 15585 22231 52158) NA 9 91 0 0 0.006214 0 0 RELN 5649 broad.mit.edu 37 7 103338439 103338439 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:103338439A>T uc003vca.2 - 10 1164 c.1004T>A c.(1003-1005)GTA>GAA p.V335E RELN_uc010liz.2_Missense_Mutation_p.V335E NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 335 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CACTTCACCTACACGAAGATT 0.468 NSCLC(146;835 1944 15585 22231 52158) NA 12 141 0 0 0.001368 0 0 LAMB1 3912 broad.mit.edu 37 7 107572810 107572810 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:107572810G>T uc003vew.2 - 28 4536 c.4201C>A c.(4201-4203)CCC>ACC p.P1401T LAMB1_uc003vev.2_Missense_Mutation_p.P1425T|LAMB1_uc003veu.2_5'Flank NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1401 Domain alpha. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCCTGGGGGTGTTCCACAG 0.592 NA 8 64 0.000274275 0.000329596 0.004482 1 0 FOXP2 93986 broad.mit.edu 37 7 114304340 114304340 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:114304340G>C uc003vhb.2 + 16 2226 c.1852G>C c.(1852-1854)GAG>CAG p.E618Q FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.E643Q|FOXP2_uc003vha.2_Missense_Mutation_p.E526Q|FOXP2_uc011kmu.1_Missense_Mutation_p.E635Q|FOXP2_uc011kmv.1_Missense_Mutation_p.E617Q|FOXP2_uc010ljz.1_Missense_Mutation_p.E433Q NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 618 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TGCCTTGGCAGAGAGCAGTTT 0.388 NA 3 37 0 0 0.001168 0 0 CFTR 1080 broad.mit.edu 37 7 117149094 117149094 + Missense_Mutation SNP G G T rs121909025 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:117149094G>T uc003vjd.2 + 3 303 c.171G>T c.(169-171)TGG>TGT p.W57C CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 57 Cytoplasmic (Potential). W -> G (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GCAGAGAATGGGATAGAGAGC 0.333 NA Cystic_Fibrosis 11 144 0.000978159 0.00114863 0.000978 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117432096 117432097 + Missense_Mutation DNP CC CC AA TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:117432096_117432097CC>AA uc003vjf.2 - 4 1245_1246 c.1153_1154GG>TT c.(1153-1155)GGA>TTA p.G385L NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 385 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGTGCTTGGTCCATTTTCCTCA 0.55 NA 11 126 0 0 0.004672 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651876 121651876 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:121651876C>G uc003vjy.2 + 12 3171 c.2776C>G c.(2776-2778)CCT>GCT p.P926A PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 926 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 AGGGCCTGAACCTTCTTATGC 0.433 NA 17 129 0 0 0.006122 0 0 CPA1 1357 broad.mit.edu 37 7 130027667 130027667 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:130027667C>G uc003vpx.2 + 10 1147 c.1075C>G c.(1075-1077)CAA>GAA p.Q359E NM_001868 NP_001859 P15085 CBPA1_HUMAN carboxypeptidase A1 precursor 359 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TGCCCCAGATCAAGCCAGTGG 0.527 NA 26 397 0 0 0.004656 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192544 132192544 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:132192544A>T uc003vra.3 - 2 1138 c.909T>A c.(907-909)AGT>AGA p.S303R PLXNA4_uc003vrc.2_Missense_Mutation_p.S303R|PLXNA4_uc003vrb.2_Missense_Mutation_p.S303R NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 303 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 ACTCCACCCCACTGCGCTCAC 0.587 NA 8 20 0 0 0.00308 0 0 EXOC4 60412 broad.mit.edu 37 7 133682312 133682312 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:133682312G>C uc003vrk.2 + 15 2309 c.2274G>C c.(2272-2274)CAG>CAC p.Q758H EXOC4_uc011kpo.1_Missense_Mutation_p.Q657H|EXOC4_uc003vrl.2_Missense_Mutation_p.Q368H|EXOC4_uc011kpp.1_Missense_Mutation_p.Q290H|EXOC4_uc011kpq.1_Missense_Mutation_p.Q46H NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 758 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) AGATCATGCAGACTCTCAGTG 0.493 NA 5 58 0 0 0.001168 0 0 WEE2 494551 broad.mit.edu 37 7 141408876 141408876 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:141408876C>A uc003vwn.2 + 1 724 c.318C>A c.(316-318)CCC>CCA p.P106P FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 106 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) AGCTGCTGCCCAGTGACAGCC 0.522 NA 16 104 3.45872e-05 4.37949e-05 0.004007 1 0 PRSS1 5644 broad.mit.edu 37 7 142458475 142458475 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:142458475A>G uc003wak.2 + 2 127 c.110A>G c.(109-111)TAC>TGC p.Y37C uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 37 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCTGTCCCCTACCAGGTGTCC 0.537 NA Hereditary_Pancreatitis 16 135 0 0 0.003163 0 0 OR2A2 442361 broad.mit.edu 37 7 143807463 143807463 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:143807463C>G uc011ktz.1 + 1 788 c.788C>G c.(787-789)TCT>TGT p.S263C NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) GTCCCAGACTCTAATCAACGA 0.507 NA 26 192 0 0 0.002096 0 0 MLL3 58508 broad.mit.edu 37 7 151945170 151945170 + Silent SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr7:151945170G>C uc003wla.2 - 14 2568 c.2349C>G c.(2347-2349)TCC>TCG p.S783S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 783 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GTGTTGGGGAGGAAGACACAT 0.423 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 9 496 0 0 0.008291 0 0 MYOM2 9172 broad.mit.edu 37 8 2088653 2088653 + Nonsense_Mutation SNP A A T rs76960308 by1000genomes TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:2088653A>T uc003wpx.3 + 33 3946 c.3808A>T c.(3808-3810)AAG>TAG p.K1270* MYOM2_uc011kwi.1_Nonsense_Mutation_p.K695* NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 1270 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AAGAGATGCTAAGATCTCATC 0.473 NA 7 54 0 0 0.00308 0 0 RP1L1 94137 broad.mit.edu 37 8 10467736 10467736 + Missense_Mutation SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:10467736T>A uc003wtc.2 - 4 4101 c.3872A>T c.(3871-3873)CAG>CTG p.Q1291L NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1291 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TTCAGCTAACTGCTCCAGGTT 0.383 NA 16 140 0 0 0.004007 0 0 TEX15 56154 broad.mit.edu 37 8 30705192 30705192 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:30705192C>T uc003xil.2 - 1 1342 c.1342G>A c.(1342-1344)GAA>AAA p.E448K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 448 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CCCCTATCTTCAACATAAGCA 0.333 NA 27 194 0 0 0.00632 0 0 DDHD2 23259 broad.mit.edu 37 8 38110567 38110567 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:38110567C>G uc003xlb.2 + 15 2190 c.1813C>G c.(1813-1815)CCA>GCA p.P605A DDHD2_uc003xlc.2_Missense_Mutation_p.P605A|DDHD2_uc003xld.2_Missense_Mutation_p.P224A NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 605 DDHD. lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) TACCAGAGCTCCATACCCTGC 0.473 NA 4 41 0 0 0.000248 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409192 59409192 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:59409192C>A uc003xtm.3 - 3 942 c.879G>T c.(877-879)GCG>GCT p.A293A NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 293 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TCCAGAAAGTCGCTGGAATGG 0.388 NA Neonatal_Giant_Cell_Hepatitis 8 82 1.06961e-07 1.49482e-07 0.00308 1 0 PREX2 80243 broad.mit.edu 37 8 68992817 68992817 + Silent SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:68992817A>G uc003xxv.1 + 16 1809 c.1782A>G c.(1780-1782)TTA>TTG p.L594L PREX2_uc003xxu.1_Silent_p.L594L|PREX2_uc011lez.1_Silent_p.L529L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 594 PDZ 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CTAAGTCATTATTGGTAAGTT 0.328 NA 4 38 0 0 0.000248 0 0 KCNS2 3788 broad.mit.edu 37 8 99440470 99440470 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:99440470G>A uc003yin.2 + 2 613 c.263G>A c.(262-264)GGC>GAC p.G88D NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 88 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) TATCACACCGGCAAGCTTCAC 0.542 Pancreas(138;844 2489 9202 24627) NA 4 105 0 0 0.000248 0 0 VPS13B 157680 broad.mit.edu 37 8 100479783 100479783 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:100479783G>A uc003yiv.2 + 24 3698 c.3587G>A c.(3586-3588)GGA>GAA p.G1196E VPS13B_uc003yiw.2_Missense_Mutation_p.G1196E|VPS13B_uc003yiu.1_Missense_Mutation_p.G1196E|VPS13B_uc003yix.1_Missense_Mutation_p.G666E NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1196 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) CTTGCTACGGGACCTGATACA 0.428 Colon(161;2205 2542 7338 31318) NA 17 152 0 0 0.00499 0 0 ZFPM2 23414 broad.mit.edu 37 8 106811100 106811100 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:106811100C>A uc003ymd.2 + 7 911 c.888C>A c.(886-888)AGC>AGA p.S296R ZFPM2_uc011lhs.1_Missense_Mutation_p.S27R|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 296 C2H2-type 1. blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGATTTCCAGCCTGTGCCCCT 0.493 NA 9 120 5.4927e-09 8.01255e-09 0.004482 1 0 CSMD3 114788 broad.mit.edu 37 8 113348905 113348905 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:113348905G>T uc003ynu.2 - 44 7154 c.6995C>A c.(6994-6996)CCA>CAA p.P2332Q CSMD3_uc003yns.2_Missense_Mutation_p.P1534Q|CSMD3_uc003ynt.2_Missense_Mutation_p.P2292Q|CSMD3_uc011lhx.1_Missense_Mutation_p.P2228Q|CSMD3_uc003ynw.1_Missense_Mutation_p.P43Q NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2332 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATCATATATTGGTTCTGTTTG 0.313 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 114 5.50884e-06 7.16782e-06 0.001368 1 0 RHPN1 114822 broad.mit.edu 37 8 144464814 144464814 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr8:144464814G>T uc003yyb.2 + 15 2139 c.2006G>T c.(2005-2007)TGG>TTG p.W669L NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 694 signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CACCCAGGGTGGCCGTGAGGG 0.682 NA 3 21 6.4e-05 7.91091e-05 0.004672 1 0 JAK2 3717 broad.mit.edu 37 9 5029787 5029787 + Silent SNP C C T rs139093384 by1000genomes TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:5029787C>T uc010mhm.2 + 3 344 c.231C>T c.(229-231)ATC>ATT p.I77I JAK2_uc003ziw.2_Silent_p.I77I NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 77 Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TTCTAGGTATCACACCTGTGT 0.343 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 5 114 0 0 0.000602 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5534886 5534886 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:5534886C>A uc003zjg.3 + 3 470 c.197C>A c.(196-198)ACA>AAA p.T66K C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.T66K|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.T66K|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.T66K|PDCD1LG2_uc010mho.1_Missense_Mutation_p.T66K NM_025239 NP_079515 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 precursor 66 Ig-like V-type.|Extracellular (Potential). immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity 0 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) GAAAATGATACATCCCCACAC 0.517 NA 3 56 2.56e-06 3.40932e-06 0.000248 1 0 ZNF658 26149 broad.mit.edu 37 9 40774879 40774879 + Silent SNP T T A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:40774879T>A uc004abs.2 - 5 548 c.396A>T c.(394-396)TCA>TCT p.S132S ZNF658_uc010mmm.1_Silent_p.S132S|ZNF658_uc010mmn.1_Silent_p.S132S NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ATATTTTTTCTGAAAGCTCTG 0.318 NA 3 56 0 0 0.000602 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625471 43625471 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:43625471C>T uc011lrb.1 - 4 3245 c.3216G>A c.(3214-3216)ATG>ATA p.M1072I NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1072 integral to membrane 0 TTCTGGCTGCCATGAGGTCAT 0.542 NA 25 294 0 0 0.004656 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88967669 88967669 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:88967669C>T uc004aoq.2 - 2 661 c.446G>A c.(445-447)AGA>AAA p.R149K ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.R149K|ZCCHC6_uc004aou.2_Missense_Mutation_p.R149K|ZCCHC6_uc004aov.2_Missense_Mutation_p.R149K|ZCCHC6_uc004aow.2_Missense_Mutation_p.R149K|ZCCHC6_uc010mqf.1_Missense_Mutation_p.R149K NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 149 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TCTTACAGTTCTGCAGCCTCT 0.408 NA 15 169 0 0 0.00245 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88967678 88967678 + Missense_Mutation SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:88967678C>T uc004aoq.2 - 2 652 c.437G>A c.(436-438)AGA>AAA p.R146K ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.R146K|ZCCHC6_uc004aou.2_Missense_Mutation_p.R146K|ZCCHC6_uc004aov.2_Missense_Mutation_p.R146K|ZCCHC6_uc004aow.2_Missense_Mutation_p.R146K|ZCCHC6_uc010mqf.1_Missense_Mutation_p.R146K NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 146 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TCTGCAGCCTCTTGTGTCTTG 0.408 NA 18 180 0 0 0.00499 0 0 IARS 3376 broad.mit.edu 37 9 94985761 94985761 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:94985761G>A uc004art.1 - 32 3677 c.3420C>T c.(3418-3420)AAC>AAT p.N1140N IARS_uc004ars.1_Intron|IARS_uc004aru.3_Silent_p.N1140N|IARS_uc010mqr.2_Silent_p.N1030N|IARS_uc010mqt.2_Silent_p.N363N NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 1140 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) AGTCAGTTTGGTTTTGTATTT 0.338 NA 5 65 0 0 0.000602 0 0 CORO2A 7464 broad.mit.edu 37 9 100893276 100893276 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:100893276G>A uc004ayl.2 - 7 1097 c.831C>T c.(829-831)TTC>TTT p.F277F CORO2A_uc004aym.2_Silent_p.F277F NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 277 WD 5. actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) CCGCGTCATAGAAGGGAAACA 0.647 NA 3 23 0 0 0.000248 0 0 PTPN3 5774 broad.mit.edu 37 9 112166750 112166750 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:112166750C>A uc004bed.2 - 19 2043 c.1931G>T c.(1930-1932)GGG>GTG p.G644V PTPN3_uc004beb.2_Missense_Mutation_p.G513V|PTPN3_uc004bec.2_Missense_Mutation_p.G468V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.G599V|PTPN3_uc011lwh.1_Missense_Mutation_p.G490V|PTPN3_uc011lwd.1_Missense_Mutation_p.G112V|PTPN3_uc011lwe.1_Missense_Mutation_p.G357V|PTPN3_uc011lwf.1_Missense_Mutation_p.G312V NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 644 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 CAGCACCGTCCCGCTTTCGAG 0.507 NA 14 59 0.000151284 0.000184541 0.001855 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900009 112900009 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:112900009G>A uc004bei.2 + 9 3073 c.2881G>A c.(2881-2883)GAC>AAC p.D961N PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.D729N|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.D729N|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.D539N|AKAP2_uc011lwi.1_Missense_Mutation_p.D587N|AKAP2_uc004bem.2_Missense_Mutation_p.D587N|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.D547N|AKAP2_uc011lwj.1_Missense_Mutation_p.D498N|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.D498N NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 498 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 TTTCAGCATGGACAACATCAG 0.507 NA 20 89 0 0 0.001523 0 0 SVEP1 79987 broad.mit.edu 37 9 113194251 113194251 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:113194251C>A uc010mtz.2 - 32 5634 c.5297G>T c.(5296-5298)GGA>GTA p.G1766V SVEP1_uc010mty.2_5'Flank NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1766 EGF-like 7; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TATGTAGGATCCATCTACGTT 0.378 NA 23 95 2.98393e-07 4.08936e-07 0.00278 1 0 ZNF483 158399 broad.mit.edu 37 9 114289741 114289741 + Silent SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:114289741G>T uc004bff.2 + 2 290 c.66G>T c.(64-66)TCG>TCT p.S22S ZNF483_uc011lwq.1_Silent_p.S22S|ZNF483_uc004bfg.2_Silent_p.S22S|ZNF483_uc010mud.1_Silent_p.S22S NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 22 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 CTCTGGCCTCGACTGAACAAA 0.478 NA 7 87 2.7689e-08 3.92781e-08 0.001984 1 0 RNF183 138065 broad.mit.edu 37 9 116060272 116060272 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:116060272G>T uc004bgz.2 - 2 311 c.193C>A c.(193-195)CTG>ATG p.L65M RNF183_uc004bha.2_Missense_Mutation_p.L65M NM_145051 NP_659488 Q96D59 RN183_HUMAN ring finger protein 183 65 integral to membrane zinc ion binding 0 CCTGAGGCCAGCACTGTGGGC 0.657 NA 11 50 1.08611e-07 1.51041e-07 0.000978 1 0 ASTN2 23245 broad.mit.edu 37 9 119858343 119858343 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:119858343C>G uc004bjs.1 - 5 1357 c.1256G>C c.(1255-1257)CGC>CCC p.R419P ASTN2_uc004bjr.1_Missense_Mutation_p.R419P|ASTN2_uc004bjt.1_Missense_Mutation_p.R368P NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 419 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GCGGCGACTGCGGTACTGCTC 0.507 NA 5 60 0 0 0.001168 0 0 DBC1 1620 broad.mit.edu 37 9 122075514 122075514 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:122075514C>A uc004bkc.2 - 2 576 c.120G>T c.(118-120)TGG>TGT p.W40C DBC1_uc004bkd.2_Missense_Mutation_p.W40C NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 40 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CTGAAATGAGCCAATCAAATT 0.488 NA 16 63 9.95505e-16 1.63795e-15 0.002299 1 0 GOLGA2 2801 broad.mit.edu 37 9 131019541 131019541 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:131019541G>A uc011maw.1 - 26 2827 c.2814C>T c.(2812-2814)CTC>CTT p.L938L GOLGA2_uc010mxw.2_Silent_p.L261L|GOLGA2_uc004buh.2_Intron NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 938 Golgi cisterna membrane protein binding ovary(1) 1 CACTGCCGGCGAGGCTCACCT 0.637 NA 6 47 0 0 0.001168 0 0 C9orf119 375757 broad.mit.edu 37 9 131050954 131050954 + Missense_Mutation SNP A A G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:131050954A>G uc004bup.2 + 5 667 c.667A>G c.(667-669)AAA>GAA p.K223E NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN hypothetical protein LOC375757 223 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 TGTCACCACCAAAGAGTTGTA 0.557 NA 16 172 0 0 0.008871 0 0 ODF2 4957 broad.mit.edu 37 9 131246279 131246279 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:131246279G>T uc011mbd.1 + 11 1361 c.1050G>T c.(1048-1050)CAG>CAT p.Q350H ODF2_uc011maz.1_Missense_Mutation_p.Q350H|ODF2_uc011mba.1_Missense_Mutation_p.Q135H|ODF2_uc010myb.2_Missense_Mutation_p.Q326H|ODF2_uc011mbb.1_Missense_Mutation_p.Q284H|ODF2_uc011mbc.1_Missense_Mutation_p.Q269H|ODF2_uc004bva.2_Missense_Mutation_p.Q303H|ODF2_uc004bvb.2_Missense_Mutation_p.Q326H|ODF2_uc011mbe.1_Missense_Mutation_p.Q345H|ODF2_uc004bvc.2_Missense_Mutation_p.Q326H|ODF2_uc010myc.2_Missense_Mutation_p.Q293H|ODF2_uc011mbf.1_Missense_Mutation_p.Q331H|ODF2_uc004bvd.3_Missense_Mutation_p.Q350H|ODF2_uc004bve.2_Missense_Mutation_p.Q331H|uc004bvg.2_5'Flank NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 350 Potential. cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 GGCATTTGCAGGCACAGCTTC 0.527 NA 8 80 2.74318e-10 4.11841e-10 0.006214 1 0 CCBL1 883 broad.mit.edu 37 9 131597812 131597812 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:131597812C>G uc004bwh.2 - 10 1175 c.990G>C c.(988-990)AAG>AAC p.K330N CCBL1_uc004bwf.2_Missense_Mutation_p.K364N|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.K330N|CCBL1_uc004bwj.2_Missense_Mutation_p.K280N|CCBL1_uc011mbl.1_Missense_Mutation_p.K424N|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.K287N NM_004059 NP_004050 Q16773 KAT1_HUMAN kynurenine aminotransferase I isoform a 330 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) GGATGATGGGCTTCAGGCCCA 0.602 NA 4 108 0 0 0.000248 0 0 NUP188 23511 broad.mit.edu 37 9 131735483 131735483 + Silent SNP T T C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:131735483T>C uc004bws.1 + 12 1180 c.1158T>C c.(1156-1158)TCT>TCC p.S386S NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 386 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GACTGCTCTCTTTCGTTCTGA 0.502 NA 4 63 0 0 0.000602 0 0 NUP214 8021 broad.mit.edu 37 9 134073026 134073026 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:134073026A>T uc004cag.2 + 29 4256 c.4145A>T c.(4144-4146)AAG>ATG p.K1382M NUP214_uc004cah.2_Missense_Mutation_p.K1372M|NUP214_uc004cai.2_Missense_Mutation_p.K812M|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.K208M|NUP214_uc011mcf.1_Missense_Mutation_p.K159M|NUP214_uc010mzh.1_Translation_Start_Site|NUP214_uc010mzi.1_Translation_Start_Site NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 1382 Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GTGTTAGGGAAGCACACGGAG 0.562 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 15 72 0 0 0.00499 0 0 TTF1 7270 broad.mit.edu 37 9 135266077 135266077 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:135266077G>A uc004cbl.2 - 7 2181 c.2129C>T c.(2128-2130)TCA>TTA p.S710L TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.S195L NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 710 Myb-like 2. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CCGAACAATTGATAGGCAACT 0.403 NA 8 244 0 0 0.004482 0 0 CEL 1056 broad.mit.edu 37 9 135942538 135942538 + Missense_Mutation SNP A A T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:135942538A>T uc010naa.1 + 7 866 c.850A>T c.(850-852)ACT>TCT p.T284S NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 281 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) TCTGAAGGTTACTGATCCCCG 0.647 NA 8 33 0 0 0.004482 0 0 COL5A1 1289 broad.mit.edu 37 9 137716553 137716554 + Missense_Mutation DNP GG GG TT TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:137716553_137716554GG>TT uc004cfe.2 + 62 5188_5189 c.4806_4807GG>TT c.(4804-4809)GTGGAC>GTTTAC p.D1603Y uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1603 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGAACTACGTGGACTACGCGGA 0.624 NA 6 44 0 0 0.004672 0 0 SEC16A 9919 broad.mit.edu 37 9 139360558 139360558 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr9:139360558C>A uc004chx.2 - 8 4468 c.4159G>T c.(4159-4161)GCC>TCC p.A1387S SEC16A_uc004chv.3_Missense_Mutation_p.A777S|SEC16A_uc004chw.2_Missense_Mutation_p.A1387S|SEC16A_uc010nbn.2_Missense_Mutation_p.A1387S NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1209 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TAGGAACCGGCAGCCACATTG 0.522 NA 13 68 2.31682e-05 2.94679e-05 0.003163 1 0 MXRA5 25878 broad.mit.edu 37 X 3240552 3240552 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:3240552C>A uc004crg.3 - 5 3331 c.3174G>T c.(3172-3174)AAG>AAT p.K1058N NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1058 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTTTCATACCCTTTTTAATCA 0.463 NA 9 110 1.12685e-05 1.45284e-05 0.004482 1 0 HCCS 3052 broad.mit.edu 37 X 11136729 11136729 + Silent SNP C C T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:11136729C>T uc004cuk.2 + 5 776 c.510C>T c.(508-510)GCC>GCT p.A170A HCCS_uc004cuj.2_Silent_p.A170A|HCCS_uc004cul.1_Silent_p.A170A NM_005333 NP_005324 P53701 CCHL_HUMAN holocytochrome c synthase 170 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding 0 AGTGGGAAGCCCTTCATGCTG 0.348 Ovarian(86;1338 1347 1462 10340 37882) NA 10 59 0 0 0.008291 0 0 BEND2 139105 broad.mit.edu 37 X 18234682 18234682 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:18234682C>A uc004cyj.3 - 2 351 c.197G>T c.(196-198)GGC>GTC p.G66V BEND2_uc010nfb.2_Missense_Mutation_p.G66V NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 66 ovary(3)|kidney(1)|central_nervous_system(1) 5 ATCATTGCCGCCTGGAAAATT 0.413 NA 8 72 5.18039e-06 6.7716e-06 0.00308 1 0 CXorf27 25763 broad.mit.edu 37 X 37850387 37850387 + Missense_Mutation SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:37850387G>A uc004ddt.3 + 1 318 c.295G>A c.(295-297)GAG>AAG p.E99K NM_012274 NP_036406 O75409 HYPM_HUMAN Huntingtin interacting protein M 99 DNA binding central_nervous_system(1) 1 CCACAGCGCTGAGAGTGATGT 0.527 NA 6 29 0 0 0.001168 0 0 RGN 9104 broad.mit.edu 37 X 46949284 46949284 + Missense_Mutation SNP T T G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:46949284T>G uc004dgz.1 + 5 1425 c.456T>G c.(454-456)ATT>ATG p.I152M RGN_uc004dha.1_Missense_Mutation_p.I152M|RGN_uc010nho.1_Missense_Mutation_p.I99M|RGN_uc010nhp.1_Intron NM_152869 NP_690608 Q15493 RGN_HUMAN regucalcin 152 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding 0 AGGTGGACATTTCCAATGGTT 0.502 NA 11 71 0 0 0.008291 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873602 91873602 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:91873602C>A uc004efk.1 + 7 4552 c.3707C>A c.(3706-3708)CCA>CAA p.P1236Q PCDH11X_uc004efl.1_Missense_Mutation_p.P1226Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P1199Q|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1228Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P1218Q NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1236 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CACAGCCCACCATCAGCACAG 0.587 NSCLC(38;925 1092 2571 38200 45895) NA 22 129 7.41877e-09 1.07392e-08 0.001882 1 0 PCDH19 57526 broad.mit.edu 37 X 99663320 99663320 + Silent SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:99663320C>G uc010nmz.2 - 1 1952 c.276G>C c.(274-276)CTG>CTC p.L92L PCDH19_uc004efw.3_Silent_p.L92L|PCDH19_uc004efx.3_Silent_p.L92L NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 92 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 TCTGGCGGCACAGCAGATCAC 0.552 NA 17 51 0 0 0.004007 0 0 NXF5 55998 broad.mit.edu 37 X 101096645 101096645 + Splice_Site SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:101096645C>A uc011mrk.1 - 5 600 c.240_splice c.e5+1 p.K80_splice NXF5_uc004eih.1_Splice_Site|NXF5_uc004eii.1_Splice_Site|NXF5_uc004eij.1_Splice_Site|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 TCAGCACACACCTTTTGGTTC 0.493 NA 25 116 2.98393e-07 4.08936e-07 0.00278 1 0 NXF3 56000 broad.mit.edu 37 X 102339665 102339665 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:102339665G>C uc004eju.2 - 2 246 c.175C>G c.(175-177)CAC>GAC p.H59D NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.H59D|NXF3_uc011mrx.1_Intron NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 59 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 GAGTCCATGTGGGCACCATGC 0.453 NA 23 133 0 0 0.002299 0 0 NRK 203447 broad.mit.edu 37 X 105168969 105168969 + Silent SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:105168969A>C uc004emd.2 + 19 3561 c.3258A>C c.(3256-3258)ACA>ACC p.T1086T NRK_uc010npc.1_Silent_p.T754T NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1086 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GCTCAGAGACAGATGGTCCAG 0.468 NA HNSCC(51;0.14) 17 85 0 0 0.00499 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280635 105280635 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:105280635G>T uc004eme.1 - 1 431 c.415C>A c.(415-417)CAT>AAT p.H139N SERPINA7_uc010npd.2_Missense_Mutation_p.H139N|SERPINA7_uc010npe.1_Missense_Mutation_p.H139N NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 139 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) GGTTTCAGATGCTTGCCAATG 0.448 NA 15 209 3.41278e-10 5.08325e-10 0.00499 1 0 GUCY2F 2986 broad.mit.edu 37 X 108628439 108628439 + Missense_Mutation SNP G G T rs55735218 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:108628439G>T uc004eod.3 - 16 3305 c.3029C>A c.(3028-3030)GCT>GAT p.A1010D GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 1010 Guanylate cyclase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 CATCCGAGAAGCTGTGTTCAC 0.493 NA 18 72 7.45023e-12 1.1681e-11 0.001523 1 0 CT47B1 643311 broad.mit.edu 37 X 120008751 120008751 + Missense_Mutation SNP C C G TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:120008751C>G uc011muc.1 - 1 1029 c.774G>C c.(772-774)GAG>GAC p.E258D NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 258 0 CCCCCTTACCCTCGGGGGCCA 0.542 NA 34 151 0 0 0.003755 0 0 UTP14A 10813 broad.mit.edu 37 X 129040189 129040189 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:129040189G>T uc004euz.2 + 1 31 c.3G>T c.(1-3)ATG>ATT p.M1I UTP14A_uc011mup.1_Missense_Mutation_p.M1I|UTP14A_uc011muq.1_5'UTR NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 1 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 CTGCTGAAATGACTGCGAACC 0.577 NA 19 125 8.34094e-07 1.12404e-06 0.008871 1 0 MCF2 4168 broad.mit.edu 37 X 138680577 138680577 + Missense_Mutation SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chrX:138680577C>A uc004fau.2 - 17 2211 c.1917G>T c.(1915-1917)CAG>CAT p.Q639H MCF2_uc004fav.2_Missense_Mutation_p.Q655H|MCF2_uc011mwl.1_Missense_Mutation_p.Q616H|MCF2_uc010nsh.1_Missense_Mutation_p.Q639H|MCF2_uc011mwm.1_Missense_Mutation_p.Q600H|MCF2_uc011mwn.1_Missense_Mutation_p.Q784H|MCF2_uc004faw.2_Missense_Mutation_p.Q699H|MCF2_uc011mwo.1_Missense_Mutation_p.Q715H NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 639 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TCAACAATAACTGATATTTAG 0.303 NA 9 44 3.09899e-07 4.23678e-07 0.004482 1 0 BAI2 576 broad.mit.edu 37 1 32203823 32203823 + Frame_Shift_Del DEL A A - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:32203823delA uc001btn.2 - 18 3104 c.2750delT c.(2749-2751)CTAfs p.L917fs BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'Flank|BAI2_uc010ogn.1_5'Flank|BAI2_uc010ogo.1_Frame_Shift_Del_p.L559fs|BAI2_uc010ogp.1_Frame_Shift_Del_p.L850fs|BAI2_uc010ogq.1_Frame_Shift_Del_p.L917fs|BAI2_uc001bto.2_Frame_Shift_Del_p.L917fs|BAI2_uc001btq.1_Frame_Shift_Del_p.L850fs NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 917 Extracellular (Potential).|GPS. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CGGCTGGGCTAGTACAGCAAA 0.617 NA 7 34 --- --- --- --- NA NA NA NA NA OR1C1 26188 broad.mit.edu 37 1 247920769 247920769 + Frame_Shift_Del DEL G G - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr1:247920769delG uc010pza.1 - 1 940 c.940delC c.(940-942)CAAfs p.Q314fs NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 314 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGTCATTATTGCTGCTGAAAG 0.408 NA 51 134 --- --- --- --- NA NA NA NA NA SERPING1 710 broad.mit.edu 37 11 57367632 57367640 + In_Frame_Del DEL CAGATTCTC CAGATTCTC - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 CAGATTCTC CAGATTCTC - - CAGATTCTC CAGATTCTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr11:57367632_57367640delCAGATTCTC uc001nkp.1 + 3 523_531 c.332_340delCAGATTCTC c.(331-342)ACAGATTCTCCT>ACT p.DSP112del SERPING1_uc001nkq.1_In_Frame_Del_p.DSP112del|SERPING1_uc010rju.1_In_Frame_Del_p.DSP60del|SERPING1_uc010rjv.1_In_Frame_Del_p.DSP117del|SERPING1_uc001nkr.1_In_Frame_Del_p.DSP112del|SERPING1_uc009ymi.1_In_Frame_Del_p.DSP112del|SERPING1_uc009ymj.1_In_Frame_Del_p.DSP112del|SERPING1_uc001nks.1_Intron NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 112_114 7 X 4 AA tandem repeats of [QE]-P-T-[TQ]. Missing (in HAE; type 2). blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 cagctcccaacagattctcctacccagcc 0.225 NA Hereditary_Angioedema 11 107 --- --- --- --- NA NA NA NA NA TAS2R20 259295 broad.mit.edu 37 12 11149674 11149674 + Frame_Shift_Del DEL A A - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr12:11149674delA uc001qzm.2 - 1 801 c.801delT c.(799-801)TTTfs p.F267fs PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176889 NP_795370 P59543 T2R20_HUMAN taste receptor, type 2, member 20 267 Helical; Name=7; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 ATATGATTCCAAAAGCTTGGC 0.383 NA 26 107 --- --- --- --- NA NA NA NA NA MYH8 4626 broad.mit.edu 37 17 10322075 10322076 + Frame_Shift_Ins INS - - A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr17:10322075_10322076insA uc002gmm.2 - 5 492_493 c.397_398insT c.(397-399)TGGfs p.W133fs uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 133 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CACCGGCAGCCACTTGTAGGGG 0.53 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 18 145 --- --- --- --- NA NA NA NA NA MUC16 94025 broad.mit.edu 37 19 9084723 9084723 + Frame_Shift_Del DEL G G - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr19:9084723delG uc002mkp.2 - 1 7296 c.7092delC c.(7090-7092)CCCfs p.P2364fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2364 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGCTATCTGAGGGGAGCTCAT 0.438 NA 17 63 --- --- --- --- NA NA NA NA NA ZEB2 9839 broad.mit.edu 37 2 145157401 145157401 + Frame_Shift_Del DEL G G - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:145157401delG uc002tvu.2 - 8 1833 c.1353delC c.(1351-1353)CCCfs p.P451fs ZEB2_uc002tvv.2_Frame_Shift_Del_p.P445fs|ZEB2_uc010zbm.1_Frame_Shift_Del_p.P422fs|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Frame_Shift_Del_p.P480fs NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 451 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TATTCATGGTGGGAAACCCAA 0.453 Melanoma(33;1235 1264 5755 16332) NA 14 70 --- --- --- --- NA NA NA NA NA PLCL1 5334 broad.mit.edu 37 2 198950220 198950220 + Frame_Shift_Del DEL G G - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:198950220delG uc010fsp.2 + 2 2270 c.1979delG c.(1978-1980)TGGfs p.W660fs PLCL1_uc002uuv.3_Frame_Shift_Del_p.W581fs NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 660 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CAGGACTTTTGGAATTGTGGC 0.413 NA 13 74 --- --- --- --- NA NA NA NA NA GMPPA 29926 broad.mit.edu 37 2 220366738 220366738 + Frame_Shift_Del DEL T T - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr2:220366738delT uc002vlr.2 + 5 476 c.408delT c.(406-408)CCTfs p.P136fs GMPPA_uc002vls.2_Frame_Shift_Del_p.P136fs|GMPPA_uc002vlt.2_Frame_Shift_Del_p.P136fs|GMPPA_uc002vlu.2_Frame_Shift_Del_p.P136fs|GMPPA_uc002vlv.2_Frame_Shift_Del_p.P136fs|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Frame_Shift_Del_p.P136fs NM_013335 NP_037467 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 136 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) AGCGTCACCCTTTCTTACTCC 0.597 NA 18 169 --- --- --- --- NA NA NA NA NA ERG 2078 broad.mit.edu 37 21 39772482 39772497 + Splice_Site DEL GGGTGTTTTCGTACCT GGGTGTTTTCGTACCT - rs67010649 TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 GGGTGTTTTCGTACCT GGGTGTTTTCGTACCT - - GGGTGTTTTCGTACCT GGGTGTTTTCGTACCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:39772482_39772497delGGGTGTTTTCGTACCT uc010gnw.2 - 8 1061 c.766_splice c.e8+1 p.D256_splice ERG_uc002yxa.2_Splice_Site_p.D249_splice|ERG_uc011aek.1_Splice_Site_p.D157_splice|ERG_uc010gnv.2_Intron|ERG_uc010gnx.2_Intron|ERG_uc011ael.1_Splice_Site_p.D256_splice|ERG_uc002yxb.2_Intron|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Frame_Shift_Del_p.P255fs|ERG_uc010gny.1_Intron NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) GATCACACAGGGGTGTTTTCGTACCTGGCCTAGTTG 0.468 Esophageal Squamous(130;336 1700 3010 3083 40589) NA 8 158 --- --- --- --- NA NA NA NA NA MX2 4600 broad.mit.edu 37 21 42752078 42752078 + Frame_Shift_Del DEL G G - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr21:42752078delG uc002yzf.1 + 4 681 c.577delG c.(577-579)GCCfs p.A193fs MX2_uc011aer.1_Intron NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 193 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) GATACACAAAGGTGGGCCCAC 0.577 NA 8 65 --- --- --- --- NA NA NA NA NA CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr4:56336954delA uc003haz.1 - 9 1294 c.368delT c.(367-369)TTAfs p.L123fs CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 NA 7 131 --- --- --- --- NA NA NA NA NA ADAMTS12 81792 broad.mit.edu 37 5 33649781 33649781 + Frame_Shift_Del DEL C C - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:33649781delC uc003jia.1 - 8 1375 c.1212delG c.(1210-1212)GGGfs p.G404fs ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.G404fs NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 404 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CATTTTCTTTCCCATCATGCT 0.532 NA HNSCC(64;0.19) 8 90 --- --- --- --- NA NA NA NA NA FBXO38 81545 broad.mit.edu 37 5 147793698 147793698 + Splice_Site DEL G G - TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9bd8e303-a81e-4ff8-882b-d46a2f7c55d2 e723bda4-998c-4669-82a2-d392eb6b54be g.chr5:147793698delG uc003lpf.1 + 10 1214 c.1094_splice c.e10-1 p.S365_splice FBXO38_uc003lpg.1_Splice_Site_p.S365_splice|FBXO38_uc003lph.2_Splice_Site_p.S365_splice NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCTTTTTAGGCAGAATGGC 0.358 NA 12 94 --- --- --- --- NA NA NA NA NA