Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values AJAP1 55966 broad.mit.edu 37 1 4832465 4832465 + Missense_Mutation SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:4832465C>A uc001alm.1 + 4 1424 c.1043C>A c.(1042-1044)ACG>AAG p.T348K AJAP1_uc001aln.2_Missense_Mutation_p.T348K NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 348 Targeting signals.|Cytoplasmic (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) GACATATTCACGGCCTATAAC 0.617000 PER3 8863 broad.mit.edu 37 1 7879395 7879395 + Missense_Mutation SNP G G T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:7879395G>T uc001aoo.2 + 13 1724 c.1549G>T c.(1549-1551)GTG>TTG p.V517L PER3_uc009vmg.1_Missense_Mutation_p.V525L|PER3_uc009vmh.1_Missense_Mutation_p.V518L|PER3_uc001aop.2_Missense_Mutation_p.V525L|PER3_uc010nzw.1_Missense_Mutation_p.V206L NM_016831 NP_058515 P56645 PER3_HUMAN period 3 517 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) AAACAATAGTGTGTACACTGA 0.423000 PEX14 5195 broad.mit.edu 37 1 10687392 10687392 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:10687392A>G uc001arn.2 + 8 670 c.649A>G c.(649-651)AAC>GAC p.N217D PEX14_uc009vmv.2_Missense_Mutation_p.N153D|PEX14_uc010oam.1_Missense_Mutation_p.N153D|PEX14_uc010oan.1_Missense_Mutation_p.N174D|PEX14_uc009vmw.2_Missense_Mutation_p.N153D NM_004565 NP_004556 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 217 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(1) 1 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) GTCCGAAATTAACTCCTTGAA 0.567000 SPEN 23013 broad.mit.edu 37 1 16248837 16248837 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:16248837G>A uc001axk.1 + 10 2047 c.1843G>A c.(1843-1845)GAA>AAA p.E615K SPEN_uc010obp.1_Missense_Mutation_p.E574K NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 615 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AATGTTAGCCGAAAGAAGGTA 0.234000 RAP1GAP 5909 broad.mit.edu 37 1 21929359 21929359 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:21929359C>T uc001bex.2 - 19 1734 c.1476G>A c.(1474-1476)CCG>CCA p.P492P RAP1GAP_uc001bev.2_Silent_p.P577P|RAP1GAP_uc001bew.2_Silent_p.P556P|RAP1GAP_uc001bey.2_Silent_p.P518P NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 492 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GGGAGCCGAACGGGCCCGACT 0.642000 KIAA0467 23334 broad.mit.edu 37 1 43908169 43908169 + Silent SNP G G A rs138303356 TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:43908169G>A uc001cjk.1 + 43 5796 c.5334G>A c.(5332-5334)GCG>GCA p.A1778A NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2677 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGGCCGAGCGCTGGTTCGCC 0.597000 C1orf141 400757 broad.mit.edu 37 1 67591441 67591441 + Nonsense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:67591441G>C uc001ddl.1 - 3 338 c.227C>G c.(226-228)TCA>TGA p.S76* C1orf141_uc001ddm.1_Nonsense_Mutation_p.S76*|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 76 ovary(1) 1 TTACATTTTTGATTTTGTAAT 0.239000 USP33 23032 broad.mit.edu 37 1 78201795 78201795 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:78201795C>T uc001dht.2 - 7 840 c.493G>A c.(493-495)GTA>ATA p.V165I USP33_uc001dhu.2_Missense_Mutation_p.V134I|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Missense_Mutation_p.V165I NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 165 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TCATCAAATACGGCAACCAGA 0.343000 DPYD 1806 broad.mit.edu 37 1 97915676 97915676 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:97915676T>G uc001drv.2 - 14 1981 c.1844A>C c.(1843-1845)GAG>GCG p.E615A NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 615 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGCCGTTTTCTCACTGATGAG 0.443000 ADORA3 140 broad.mit.edu 37 1 112045631 112045631 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:112045631C>T uc001ebh.3 - 1 1113 c.346G>A c.(346-348)GTC>ATC p.V116I ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Missense_Mutation_p.V116I NM_000677 NP_000668 P33765 AA3R_HUMAN adenosine A3 receptor isoform 2 116 Cytoplasmic (By similarity). activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGCTACCTGACGGTAAGCTTG 0.522000 HRNR 388697 broad.mit.edu 37 1 152185618 152185618 + Silent SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:152185618G>C uc001ezt.1 - 3 8563 c.8487C>G c.(8485-8487)CTC>CTG p.L2829L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2829 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) TAGGAAAACTGAGAAAATATG 0.403000 HRNR 388697 broad.mit.edu 37 1 152185707 152185707 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:152185707G>C uc001ezt.1 - 3 8474 c.8398C>G c.(8398-8400)CAG>GAG p.Q2800E NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2800 30. 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) CTTCCATGCTGACTATAACCA 0.522000 HRNR 388697 broad.mit.edu 37 1 152185775 152185775 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:152185775G>C uc001ezt.1 - 3 8406 c.8330C>G c.(8329-8331)TCT>TGT p.S2777C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2777 30. 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) CCCTGAACCAGACCCGTGTCG 0.592000 FLG2 388698 broad.mit.edu 37 1 152330090 152330090 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:152330090T>C uc001ezw.3 - 3 245 c.172A>G c.(172-174)ATG>GTG p.M58V uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 58 S-100-like (By similarity).|EF-hand 2. 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) AGCATATGCATGATGACATCC 0.438000 LCE2B 26239 broad.mit.edu 37 1 152659558 152659558 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:152659558T>C uc001fai.2 + 2 293 c.239T>C c.(238-240)CTC>CCC p.L80P NM_014357 NP_055172 O14633 LCE2B_HUMAN late cornified envelope 2B 80 Cys-rich. keratinization ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGGCCCCGTCTCTTCCACCGG 0.687000 SPRR3 6707 broad.mit.edu 37 1 152975747 152975747 + Missense_Mutation SNP A A C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:152975747A>C uc001fax.3 + 3 401 c.251A>C c.(250-252)AAG>ACG p.K84T SPRR3_uc001faz.3_Missense_Mutation_p.K84T|SPRR3_uc001fay.2_Missense_Mutation_p.K76T NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 84 6.|14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity skin(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTTGTACCAAGGTCCCTGAG 0.592000 OR10K2 391107 broad.mit.edu 37 1 158390620 158390620 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:158390620T>A uc010pii.1 - 1 37 c.37A>T c.(37-39)ATC>TTC p.I13F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CCGAGGAAGATGACCTCTCTC 0.512000 OR10K1 391109 broad.mit.edu 37 1 158435654 158435654 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:158435654G>A uc010pij.1 + 1 303 c.303G>A c.(301-303)ATG>ATA p.M101I NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CCATCCAAATGTTTTCCTTCC 0.502000 SPTA1 6708 broad.mit.edu 37 1 158639573 158639573 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:158639573C>T uc001fst.1 - 13 1802 c.1603G>A c.(1603-1605)GTA>ATA p.V535I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 535 Spectrin 6. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTCTTGTCTACAGTCTGAAAA 0.403000 OR6K6 128371 broad.mit.edu 37 1 158724937 158724937 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:158724937C>T uc001fsw.1 + 1 332 c.332C>T c.(331-333)TCC>TTC p.S111F NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 111 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) AAGATGCTGTCCTGCCTAATC 0.512000 RGS4 5999 broad.mit.edu 37 1 163044232 163044232 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:163044232G>A uc009wuy.2 + 5 1011 c.500G>A c.(499-501)CGC>CAC p.R167H RGS4_uc001gcl.3_Missense_Mutation_p.R264H|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Missense_Mutation_p.R149H NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 167 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 TCCTACCGCCGCTTCCTCAAG 0.502000 LMX1A 4009 broad.mit.edu 37 1 165175151 165175151 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:165175151C>T uc001gcy.1 - 7 1159 c.938G>A c.(937-939)CGA>CAA p.R313Q LMX1A_uc001gcz.1_Missense_Mutation_p.R313Q|LMX1A_uc001gcw.1_Missense_Mutation_p.R31Q|LMX1A_uc001gcx.1_Missense_Mutation_p.R64Q NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 313 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) GAGACCCTGTCGGAAGGGATC 0.582000 TPR 7175 broad.mit.edu 37 1 186324590 186324590 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:186324590C>T uc001grv.2 - 17 2420 c.2123G>A c.(2122-2124)CGA>CAA p.R708Q NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 708 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ATTTTGTGATCGCAAATCTGT 0.284000 T NTRK1 papillary thyroid CFHR3 10878 broad.mit.edu 37 1 196748352 196748352 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:196748352G>A uc001gtl.2 + 2 206 c.119G>A c.(118-120)AGA>AAA p.R40K CFHR3_uc001gtk.2_Missense_Mutation_p.R40K|CFHR3_uc010poy.1_Missense_Mutation_p.R40K|CFHR1_uc001gtm.2_Missense_Mutation_p.R3K NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 40 Sushi 1. extracellular space 0 AATATGCGTAGACCATACTTT 0.323000 CFHR3 10878 broad.mit.edu 37 1 196749078 196749078 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:196749078T>C uc001gtl.2 + 3 492 c.405T>C c.(403-405)TCT>TCC p.S135S CFHR3_uc001gtk.2_Silent_p.S135S|CFHR3_uc010poy.1_Silent_p.S135S|CFHR1_uc001gtm.2_Intron NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 135 Sushi 2. extracellular space 0 AAGGCTGGTCTCCTACTCCCA 0.493000 PTPRC 5788 broad.mit.edu 37 1 198711490 198711490 + Silent SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:198711490A>G uc001gur.1 + 25 2865 c.2685A>G c.(2683-2685)CAA>CAG p.Q895Q PTPRC_uc001gus.1_Silent_p.Q847Q|PTPRC_uc001gut.1_Silent_p.Q734Q NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 895 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. Substrate (By similarity). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TGATGGTTCAAGTAGAGGTAT 0.363000 INTS7 25896 broad.mit.edu 37 1 212156066 212156066 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:212156066G>A uc001hiw.1 - 9 1189 c.1084C>T c.(1084-1086)CAT>TAT p.H362Y INTS7_uc009xdb.1_Missense_Mutation_p.H362Y|INTS7_uc001hix.1_Missense_Mutation_p.H238Y|INTS7_uc001hiy.1_Missense_Mutation_p.H362Y|INTS7_uc010pta.1_Missense_Mutation_p.H313Y NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 362 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CTAACTCCATGAGCTGCAATG 0.378000 ACTN2 88 broad.mit.edu 37 1 236914822 236914822 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:236914822G>C uc001hyf.2 + 15 1913 c.1709G>C c.(1708-1710)GGA>GCA p.G570A ACTN2_uc001hyg.2_Missense_Mutation_p.G362A|ACTN2_uc009xgi.1_Missense_Mutation_p.G570A|ACTN2_uc010pxu.1_Missense_Mutation_p.G259A|ACTN2_uc001hyh.2_Missense_Mutation_p.G258A NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 570 Spectrin 3. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGGCGGACGGAGAGCGGCAG 0.537000 RYR2 6262 broad.mit.edu 37 1 237617865 237617865 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:237617865C>T uc001hyl.1 + 15 1587 c.1467C>T c.(1465-1467)TTC>TTT p.F489F NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 489 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAAATCTCTTCCAGGAAGAGG 0.423000 RYR2 6262 broad.mit.edu 37 1 237675029 237675029 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:237675029G>A uc001hyl.1 + 24 2880 c.2760G>A c.(2758-2760)GAG>GAA p.E920E NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 920 Cytoplasmic (By similarity).|1.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCTGGTGGAGTTCTCCAAGC 0.438000 PLD5 200150 broad.mit.edu 37 1 242511425 242511425 + Missense_Mutation SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:242511425A>T uc001hzn.1 - 2 436 c.309T>A c.(307-309)AAT>AAA p.N103K PLD5_uc001hzl.3_Missense_Mutation_p.N41K|PLD5_uc001hzm.3_Translation_Start_Site|PLD5_uc001hzo.1_Missense_Mutation_p.I9N Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 103 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TATTTTGGCAATTTTTTTCTG 0.443000 OR2T6 254879 broad.mit.edu 37 1 248551074 248551074 + Silent SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:248551074C>A uc001iei.1 + 1 165 c.165C>A c.(163-165)CTC>CTA p.L55L NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L55P(1) ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCCTCATCTCCACACCCCCA 0.473000 OR2T3 343173 broad.mit.edu 37 1 248637588 248637588 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:248637588A>G uc001iel.1 + 1 937 c.937A>G c.(937-939)AGA>GGA p.R313G NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGCAGTCAAGAATGAACCA 0.483000 OR2T10 127069 broad.mit.edu 37 1 248756332 248756332 + Silent SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr1:248756332T>A uc010pzn.1 - 1 738 c.738A>T c.(736-738)ACA>ACT p.T246T NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGCTGACCACTGTAATGTGGG 0.443000 ZNF248 57209 broad.mit.edu 37 10 38121107 38121107 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr10:38121107C>T uc001izd.1 - 6 1675 c.1176G>A c.(1174-1176)AAG>AAA p.K392K ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Silent_p.K392K NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 392 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAGGTTTGACTTCTCCCAGA 0.458000 DNTT 1791 broad.mit.edu 37 10 98087281 98087281 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr10:98087281G>A uc001kmf.2 + 7 1101 c.931G>A c.(931-933)GTC>ATC p.V311I DNTT_uc001kmg.2_Missense_Mutation_p.V311I NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 311 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) AGCAGAGGCCGTCAGTGTGCT 0.517000 PDCD11 22984 broad.mit.edu 37 10 105199528 105199528 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr10:105199528G>C uc001kwy.1 + 28 4138 c.4051G>C c.(4051-4053)GCT>CCT p.A1351P NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1351 S1 motif 12. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TGTGGGTTTGGCTCGGTACTC 0.552000 SORCS3 22986 broad.mit.edu 37 10 106401694 106401694 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr10:106401694G>C uc001kyi.1 + 1 836 c.609G>C c.(607-609)TGG>TGC p.W203C NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 203 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGGTGCACTGGTCGGGACACA 0.701000 GPAM 57678 broad.mit.edu 37 10 113917086 113917086 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr10:113917086G>C uc009xxy.1 - 19 2240 c.2042C>G c.(2041-2043)CCA>CGA p.P681R GPAM_uc001kzp.2_Missense_Mutation_p.P681R|GPAM_uc001kzq.1_Missense_Mutation_p.P681R NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 681 Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential). phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) CAAAGGTTCTGGAAGCTTCTT 0.458000 DCLRE1A 9937 broad.mit.edu 37 10 115605541 115605541 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr10:115605541T>A uc001law.2 - 4 3199 c.2281A>T c.(2281-2283)AAC>TAC p.N761Y NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 761 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) TGAAGCTTGTTCTTCAACAAA 0.358000 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function IFITM1 8519 broad.mit.edu 37 11 314303 314303 + Missense_Mutation SNP C C T rs11552362 TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:314303C>T uc001loy.3 + 1 313 c.133C>T c.(133-135)CTC>TTC p.L45F NM_003641 NP_003632 P13164 IFM1_HUMAN interferon induced transmembrane protein 1 45 Helical; (Potential). negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding|receptor signaling protein activity 0 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GTTCAACACCCTCTTCTTGAA 0.617000 OR51L1 119682 broad.mit.edu 37 11 5020810 5020810 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:5020810T>C uc010qyu.1 + 1 598 c.598T>C c.(598-600)TAT>CAT p.Y200H NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAACAGTATTTATGGGCTTTG 0.428000 OR10A5 144124 broad.mit.edu 37 11 6867680 6867680 + Missense_Mutation SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:6867680C>G uc001met.1 + 1 767 c.767C>G c.(766-768)TCT>TGT p.S256C NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 256 Helical; Name=6; (Potential). S -> L (in Ref. 4; AAC70019). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TATATATCTTCTAGCCTCACC 0.433000 OR10A5 144124 broad.mit.edu 37 11 6867694 6867694 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:6867694T>G uc001met.1 + 1 781 c.781T>G c.(781-783)TTC>GTC p.F261V NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCTCACCTACTTCTGGCCTAA 0.423000 OVCH2 341277 broad.mit.edu 37 11 7718031 7718031 + Silent SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:7718031A>T uc010rbf.1 - 10 1122 c.1122T>A c.(1120-1122)TCT>TCA p.S374S NM_198185 NP_937828 ovochymase 2 precursor 0 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TGTCTTCTAAAGAATACATTG 0.458000 NELL1 4745 broad.mit.edu 37 11 20948910 20948910 + Silent SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:20948910T>G uc001mqe.2 + 8 969 c.816T>G c.(814-816)ACT>ACG p.T272T NELL1_uc001mqf.2_Silent_p.T272T|NELL1_uc009yid.2_Silent_p.T300T|NELL1_uc010rdo.1_Silent_p.T215T|NELL1_uc010rdp.1_Silent_p.T32T NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 272 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GTGAGAAGACTTGTCAAGTGA 0.383000 NELL1 4745 broad.mit.edu 37 11 20959356 20959356 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:20959356T>G uc001mqe.2 + 10 1175 c.1022T>G c.(1021-1023)GTT>GGT p.V341G NELL1_uc001mqf.2_Missense_Mutation_p.V341G|NELL1_uc009yid.2_Missense_Mutation_p.V369G|NELL1_uc010rdo.1_Missense_Mutation_p.V284G|NELL1_uc010rdp.1_Missense_Mutation_p.V101G NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 341 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GGAGGAAAAGTTCTTGCAGAA 0.408000 LRRC4C 57689 broad.mit.edu 37 11 40136487 40136487 + Silent SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:40136487A>T uc001mxa.1 - 2 3320 c.1356T>A c.(1354-1356)TCT>TCA p.S452S LRRC4C_uc001mxc.1_Silent_p.S448S|LRRC4C_uc001mxd.1_Silent_p.S448S|LRRC4C_uc001mxb.1_Silent_p.S448S NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 452 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TTGAAAAGTAAGAGAAAGGAG 0.483000 OR4A47 403253 broad.mit.edu 37 11 48511093 48511093 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:48511093T>A uc010rhx.1 + 1 749 c.749T>A c.(748-750)GTT>GAT p.V250D NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTCTTCTTTGTTCCTTGTATT 0.433000 OR8H3 390152 broad.mit.edu 37 11 55890577 55890577 + Silent SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:55890577T>A uc001nii.1 + 1 729 c.729T>A c.(727-729)TCT>TCA p.S243S NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CTTGCGTCTCTCATCTCTTGG 0.403000 OR8J1 219477 broad.mit.edu 37 11 56127847 56127847 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:56127847A>G uc010rjh.1 + 1 125 c.125A>G c.(124-126)AAC>AGC p.N42S NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATGGCAGGGAACCTGGGCATC 0.493000 CLP1 10978 broad.mit.edu 37 11 57427134 57427134 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:57427134G>A uc001nkw.2 + 2 325 c.186G>A c.(184-186)AAG>AAA p.K62K CLP1_uc010rjw.1_Silent_p.K62K|CLP1_uc009yml.2_Silent_p.K62K NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 62 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 CTGGTGCCAAGGTGGCTGTTT 0.502000 FADS2 9415 broad.mit.edu 37 11 61624490 61624490 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:61624490A>G uc001nsl.1 + 6 902 c.752A>G c.(751-753)AAG>AGG p.K251R FADS2_uc001nsj.2_Missense_Mutation_p.K229R|FADS2_uc010rlo.1_Missense_Mutation_p.K220R|FADS2_uc001nsk.2_Missense_Mutation_p.K251R NM_004265 NP_004256 O95864 FADS2_HUMAN fatty acid desaturase 2 251 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding ovary(1)|pancreas(1) 2 Alpha-Linolenic Acid(DB00132) CAGTACGGCAAGAAGAAGCTG 0.572000 RBM4 5936 broad.mit.edu 37 11 66411193 66411193 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:66411193C>T uc009yrj.2 + 3 1173 c.685C>T c.(685-687)CGG>TGG p.R229W RBM4_uc009yrk.2_Missense_Mutation_p.R204W|RBM4_uc001oiw.1_Missense_Mutation_p.R229W|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.R229W|RBM4_uc001oiz.1_Missense_Mutation_p.R229W NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 229 Interaction with TNPO3. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) CCGTGCTGCCCGGTCCTATGA 0.567000 P2RY6 5031 broad.mit.edu 37 11 73008014 73008014 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:73008014G>A uc001otm.2 + 4 856 c.451G>A c.(451-453)GTG>ATG p.V151M P2RY6_uc001otn.2_Missense_Mutation_p.V151M|P2RY6_uc001oto.2_Missense_Mutation_p.V151M|P2RY6_uc001otp.2_Missense_Mutation_p.V151M|P2RY6_uc001otq.2_Missense_Mutation_p.V151M|P2RY6_uc001otr.2_Missense_Mutation_p.V151M|P2RY6_uc001ots.2_Missense_Mutation_p.V151M NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 151 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 GTGTGTAGCCGTGTGGCTGGC 0.667000 C2CD3 26005 broad.mit.edu 37 11 73844002 73844002 + Silent SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:73844002A>G uc001ouu.2 - 7 1331 c.1104T>C c.(1102-1104)TCT>TCC p.S368S C2CD3_uc001ouv.2_Silent_p.S368S NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 368 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) ACCGATTCCTAGAAAAGGCTC 0.403000 HEPHL1 341208 broad.mit.edu 37 11 93808527 93808527 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:93808527C>T uc001pep.2 + 9 1849 c.1692C>T c.(1690-1692)GGC>GGT p.G564G uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 564 Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GTAAAAAGGGCGTCCTCAATG 0.517000 ANGPTL5 253935 broad.mit.edu 37 11 101775550 101775550 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:101775550G>A uc001pgl.2 - 5 1030 c.434C>T c.(433-435)TCA>TTA p.S145L NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 145 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CTCACCATGTGACTGAACAGG 0.353000 DYNC2H1 79659 broad.mit.edu 37 11 103152957 103152957 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:103152957C>T uc001pho.2 + 72 10955 c.10811C>T c.(10810-10812)GCT>GTT p.A3604V DYNC2H1_uc001phn.1_Missense_Mutation_p.A3611V|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3604 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTACGGAAAGCTGTAAGTTAA 0.294000 TTC12 54970 broad.mit.edu 37 11 113235630 113235630 + Silent SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:113235630T>G uc001pnu.2 + 21 1995 c.1890T>G c.(1888-1890)GGT>GGG p.G630G TTC12_uc001pnv.2_Silent_p.G636G|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.G480G NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 630 binding p.G630D(1) pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TCTGCCTTGGTAACTGCATGG 0.542000 ARHGEF12 23365 broad.mit.edu 37 11 120348905 120348905 + Missense_Mutation SNP A A C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr11:120348905A>C uc001pxl.1 + 37 3580 c.3573A>C c.(3571-3573)AAA>AAC p.K1191N ARHGEF12_uc009zat.2_Missense_Mutation_p.K1172N|ARHGEF12_uc009zau.1_Missense_Mutation_p.K1088N NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1191 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TATCGTCAAAACCTCAGTCTC 0.388000 T MLL AML CASC1 55259 broad.mit.edu 37 12 25261681 25261681 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr12:25261681T>C uc001rgl.2 - 15 2034 c.1952A>G c.(1951-1953)CAA>CGA p.Q651R CASC1_uc001rgk.2_Missense_Mutation_p.Q657R|CASC1_uc001rgm.3_3'UTR|CASC1_uc001rgj.2_Missense_Mutation_p.Q611R|CASC1_uc010sje.1_Missense_Mutation_p.Q592R|CASC1_uc010sjf.1_3'UTR NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 651 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) CTTCAGTCTTTGTGCTCTGTC 0.368000 SMARCC2 6601 broad.mit.edu 37 12 56568472 56568472 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr12:56568472G>A uc001skb.2 - 16 1565 c.1459C>T c.(1459-1461)CGC>TGC p.R487C SMARCC2_uc001skd.2_Missense_Mutation_p.R487C|SMARCC2_uc001ska.2_Missense_Mutation_p.R487C|SMARCC2_uc001skc.2_Missense_Mutation_p.R487C|SMARCC2_uc010sqf.1_Missense_Mutation_p.R376C NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 487 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) AGGTTTCGGCGGCAGGCGGTA 0.517000 LRRC10 376132 broad.mit.edu 37 12 70003953 70003953 + Silent SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr12:70003953A>G uc001svc.2 - 1 990 c.666T>C c.(664-666)AAT>AAC p.N222N NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 222 nucleus 0 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCCTGCAAGGATTGTGGTCAT 0.587000 PTPRB 5787 broad.mit.edu 37 12 70974970 70974970 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr12:70974970G>A uc001swb.3 - 8 1800 c.1770C>T c.(1768-1770)ATC>ATT p.I590I PTPRB_uc010sto.1_Silent_p.I590I|PTPRB_uc010stp.1_Silent_p.I500I|PTPRB_uc001swc.3_Silent_p.I808I|PTPRB_uc001swa.3_Silent_p.I808I|PTPRB_uc001swd.3_Silent_p.I807I|PTPRB_uc009zrr.1_Silent_p.I687I NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 590 Fibronectin type-III 7.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATTTTCATGGATCAGTAAGA 0.463000 NAV3 89795 broad.mit.edu 37 12 78604244 78604244 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr12:78604244A>G uc001syp.2 + 40 7278 c.7105A>G c.(7105-7107)AGC>GGC p.S2369G NAV3_uc001syo.2_Missense_Mutation_p.S2347G|NAV3_uc010sub.1_Missense_Mutation_p.S1826G|NAV3_uc009zsf.2_Missense_Mutation_p.S1178G NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2369 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CGACAGCGAAAGCACCAGCCA 0.388000 HNSCC(70;0.22) CHPT1 56994 broad.mit.edu 37 12 102117024 102117024 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr12:102117024A>G uc001tin.2 + 6 1082 c.859A>G c.(859-861)ACT>GCT p.T287A CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.T287A NM_020244 NP_064629 Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 287 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding 0 AAAGTCAGCAACTGATGTGTT 0.343000 NUAK1 9891 broad.mit.edu 37 12 106464550 106464550 + Splice_Site SNP A A C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr12:106464550A>C uc001tlj.1 - 6 2212 c.832_splice c.e6+1 p.D278_splice NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 CAGGGCACGCACCTGAGGGCT 0.507000 TMEM132D 121256 broad.mit.edu 37 12 129822217 129822217 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr12:129822217T>A uc009zyl.1 - 4 1589 c.1261A>T c.(1261-1263)AGC>TGC p.S421C NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 421 Extracellular (Potential). integral to membrane 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) TCCTTTGGGCTCACATAGATC 0.612000 GJB6 10804 broad.mit.edu 37 13 20796878 20796878 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:20796878T>G uc001umz.3 - 3 1295 c.742A>C c.(742-744)ATT>CTT p.I248L GJB6_uc001unc.3_Missense_Mutation_p.I248L|GJB6_uc001una.3_Missense_Mutation_p.I248L|GJB6_uc001und.3_Missense_Mutation_p.I248L|GJB6_uc001unb.3_Missense_Mutation_p.I248L NM_006783 NP_006774 O95452 CXB6_HUMAN gap junction protein, beta 6 248 Cytoplasmic (Potential). cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle ovary(1) 1 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) CTATCTGAAATCAGCTCATTC 0.408000 TNFRSF19 55504 broad.mit.edu 37 13 24190168 24190168 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:24190168G>A uc001uov.1 + 4 407 c.343G>A c.(343-345)GGG>AGG p.G115R TNFRSF19_uc001uot.2_Missense_Mutation_p.G115R|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.G115R NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 115 Extracellular (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TGCCATCTGCGGGGACTGCTT 0.473000 TRPC4 7223 broad.mit.edu 37 13 38211114 38211114 + Missense_Mutation SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:38211114C>A uc001uws.2 - 11 3095 c.2860G>T c.(2860-2862)GAC>TAC p.D954Y TRPC4_uc010abv.2_Missense_Mutation_p.D534Y|TRPC4_uc001uwt.2_Missense_Mutation_p.D870Y|TRPC4_uc010tey.1_Missense_Mutation_p.D813Y|TRPC4_uc010abw.2_Missense_Mutation_p.D781Y|TRPC4_uc010abx.2_Missense_Mutation_p.D959Y|TRPC4_uc010aby.2_Missense_Mutation_p.D805Y NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 954 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ATACTAGAGTCCTCTTCTTTT 0.443000 TRPC4 7223 broad.mit.edu 37 13 38211582 38211582 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:38211582C>T uc001uws.2 - 11 2627 c.2392G>A c.(2392-2394)GAT>AAT p.D798N TRPC4_uc010abv.2_Missense_Mutation_p.D378N|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.D625N|TRPC4_uc010abx.2_Missense_Mutation_p.D803N|TRPC4_uc010aby.2_Intron NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 798 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTGGTTAAATCAAAAAGGCTG 0.463000 ENOX1 55068 broad.mit.edu 37 13 43896599 43896599 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:43896599G>A uc001uza.3 - 11 1482 c.1182C>T c.(1180-1182)ATC>ATT p.I394I ENOX1_uc001uzb.3_Silent_p.I394I|ENOX1_uc001uzc.3_Silent_p.I394I|ENOX1_uc001uyz.3_Silent_p.I3I|ENOX1_uc010tfm.1_Silent_p.I207I NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 394 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CTTCGCGGCGGATGCCCATGA 0.473000 PCDH17 27253 broad.mit.edu 37 13 58298909 58298909 + Silent SNP C C T rs138830034 byFrequency TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:58298909C>T uc001vhq.1 + 4 3853 c.2961C>T c.(2959-2961)TAC>TAT p.Y987Y PCDH17_uc010aec.1_Silent_p.Y986Y|PCDH17_uc001vhr.1_Silent_p.Y76Y NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 987 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CTGAGACTTACGAAACTGTGA 0.413000 TDRD3 81550 broad.mit.edu 37 13 61084866 61084866 + Missense_Mutation SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:61084866A>T uc001via.2 + 10 1627 c.839A>T c.(838-840)AAA>ATA p.K280I TDRD3_uc010aef.2_Missense_Mutation_p.K105I|TDRD3_uc001vhz.3_Missense_Mutation_p.K280I|TDRD3_uc010aeg.2_Missense_Mutation_p.K373I|TDRD3_uc001vib.3_Missense_Mutation_p.K279I NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 280 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TTGGAATCTAAAATGGGAACT 0.323000 DACH1 1602 broad.mit.edu 37 13 72440223 72440223 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:72440223G>A uc010thn.1 - 2 1102 c.679C>T c.(679-681)CAT>TAT p.H227Y DACH1_uc010tho.1_Missense_Mutation_p.H227Y|DACH1_uc010thp.1_Missense_Mutation_p.H227Y NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 227 Interaction with SIX6 and HDAC3 (By similarity).|DACHbox-N. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TAGACCGTATGCAAGCCCCCC 0.622000 EDNRB 1910 broad.mit.edu 37 13 78477411 78477411 + Silent SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:78477411C>A uc001vko.2 - 3 939 c.681G>T c.(679-681)GTG>GTT p.V227V EDNRB_uc001vkq.1_Silent_p.V227V|uc001vkn.1_Intron|EDNRB_uc010aez.1_Silent_p.V227V|EDNRB_uc001vkp.1_Silent_p.V310V NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 227 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CCACAGAGACCACCCAAATCA 0.408000 SLITRK1 114798 broad.mit.edu 37 13 84454439 84454439 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr13:84454439T>G uc001vlk.2 - 1 2090 c.1204A>C c.(1204-1206)ATT>CTT p.I402L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 402 Extracellular (Potential).|LRR 8. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCCAACAGAATGAGGTTCTTG 0.433000 NPAS3 64067 broad.mit.edu 37 14 34269031 34269031 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:34269031G>A uc001wru.2 + 12 1582 c.1518G>A c.(1516-1518)GCG>GCA p.A506A NPAS3_uc001wrs.2_Silent_p.A493A|NPAS3_uc001wrt.2_Silent_p.A474A|NPAS3_uc001wrv.2_Silent_p.A476A NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CGGGCAACGCGTGTGACAACG 0.592000 NIN 51199 broad.mit.edu 37 14 51224398 51224398 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:51224398C>T uc001wym.2 - 18 3541 c.3350G>A c.(3349-3351)GGA>GAA p.G1117E NIN_uc001wyi.2_Missense_Mutation_p.G1117E|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.G1123E|NIN_uc001wyo.2_Missense_Mutation_p.G1117E NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1117 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) CGCAGTATTTCCAAAAAACTC 0.433000 T PDGFRB MPD NIN 51199 broad.mit.edu 37 14 51224423 51224423 + Missense_Mutation SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:51224423C>G uc001wym.2 - 18 3516 c.3325G>C c.(3325-3327)GAT>CAT p.D1109H NIN_uc001wyi.2_Missense_Mutation_p.D1109H|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.D1115H|NIN_uc001wyo.2_Missense_Mutation_p.D1109H NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1109 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GCTGGCTCATCCAAACAAGAA 0.428000 T PDGFRB MPD NIN 51199 broad.mit.edu 37 14 51224605 51224605 + Missense_Mutation SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:51224605C>G uc001wym.2 - 18 3334 c.3143G>C c.(3142-3144)GGA>GCA p.G1048A NIN_uc001wyi.2_Missense_Mutation_p.G1048A|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.G1054A|NIN_uc001wyo.2_Missense_Mutation_p.G1048A NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1048 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GGACAGGGCTCCATCTCCTTC 0.507000 T PDGFRB MPD NIN 51199 broad.mit.edu 37 14 51224813 51224813 + Nonsense_Mutation SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:51224813C>A uc001wym.2 - 18 3126 c.2935G>T c.(2935-2937)GAA>TAA p.E979* NIN_uc001wyi.2_Nonsense_Mutation_p.E979*|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Nonsense_Mutation_p.E985*|NIN_uc001wyo.2_Nonsense_Mutation_p.E979* NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 979 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TCCTGCCTTTCCTGGTCATGT 0.542000 T PDGFRB MPD KTN1 3895 broad.mit.edu 37 14 56107659 56107659 + Silent SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:56107659T>A uc001xcb.2 + 17 2294 c.1992T>A c.(1990-1992)GCT>GCA p.A664A KTN1_uc001xce.2_Silent_p.A664A|KTN1_uc001xcc.2_Silent_p.A664A|KTN1_uc001xcd.2_Silent_p.A664A|KTN1_uc010trb.1_Silent_p.A664A|KTN1_uc001xcf.1_Silent_p.A664A NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 664 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 AGGCTGCTGCTGCACATGAAT 0.318000 T RET papillary thryoid ATP6V1D 51382 broad.mit.edu 37 14 67826414 67826414 + Missense_Mutation SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:67826414A>T uc001xjf.2 - 1 178 c.2T>A c.(1-3)ATG>AAG p.M1K ATP6V1D_uc001xje.2_RNA|EIF2S1_uc001xjg.2_5'Flank NM_015994 NP_057078 Q9Y5K8 VATD_HUMAN H(+)-transporting two-sector ATPase 1 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1)|lung(1) 2 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) TTTGCCCGACATTCTGACGAT 0.552000 DPF3 8110 broad.mit.edu 37 14 73140966 73140966 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:73140966C>T uc001xnc.2 - 8 866 c.853G>A c.(853-855)GCA>ACA p.A285T DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.A285T|DPF3_uc010ttq.1_Missense_Mutation_p.A295T NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 285 PHD-type 1. chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CCACAGTCTGCGCAGGACACC 0.572000 CCDC88C 440193 broad.mit.edu 37 14 91780011 91780011 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:91780011G>A uc010aty.2 - 15 2248 c.2149C>T c.(2149-2151)CGC>TGC p.R717C NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 717 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CTGGTGAAGCGCATGGTCTCC 0.607000 BCL11B 64919 broad.mit.edu 37 14 99640530 99640530 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:99640530C>T uc001yga.2 - 4 2910 c.2643G>A c.(2641-2643)TTG>TTA p.L881L BCL11B_uc001ygb.2_Silent_p.L810L NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 881 C2H2-type 6. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CGTTAGTCAGCAAGTGCTCGC 0.483000 T TLX3 T-ALL INF2 64423 broad.mit.edu 37 14 105180624 105180624 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr14:105180624G>A uc001ypb.2 + 21 3268 c.3125G>A c.(3124-3126)AGC>AAC p.S1042N INF2_uc010tyi.1_Missense_Mutation_p.S1042N|INF2_uc001ypc.2_Missense_Mutation_p.S1042N|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 1042 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) ACAACAGCCAGCGAGTCCCGG 0.687000 MAP1A 4130 broad.mit.edu 37 15 43817620 43817620 + Missense_Mutation SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr15:43817620C>G uc001zrt.2 + 4 4416 c.3949C>G c.(3949-3951)CTG>GTG p.L1317V NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1317 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGAACACATTCTGACACCTGA 0.502000 RFX7 64864 broad.mit.edu 37 15 56387980 56387980 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr15:56387980G>C uc010bfn.2 - 9 1946 c.1946C>G c.(1945-1947)CCT>CGT p.P649R RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.P463R NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 552 regulation of transcription, DNA-dependent nucleus DNA binding 0 GCATAATTTAGGGTCTTTATT 0.428000 TLN2 83660 broad.mit.edu 37 15 63089448 63089448 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr15:63089448G>A uc002alb.3 + 45 6081 c.6081G>A c.(6079-6081)TTG>TTA p.L2027L TLN2_uc002alc.3_Silent_p.L420L NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 2027 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CCAAGGCCTTGGTAGAAGACA 0.577000 MYO9A 4649 broad.mit.edu 37 15 72302748 72302748 + Missense_Mutation SNP A A C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr15:72302748A>C uc002atl.3 - 7 1669 c.1196T>G c.(1195-1197)TTT>TGT p.F399C MYO9A_uc010biq.2_5'UTR|MYO9A_uc002ato.2_Missense_Mutation_p.F399C|MYO9A_uc002atn.1_Missense_Mutation_p.F380C NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 399 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TAGGCGCTCAAAGTCATGTCT 0.328000 ACAN 176 broad.mit.edu 37 15 89400187 89400187 + Silent SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr15:89400187A>G uc010upo.1 + 12 4745 c.4371A>G c.(4369-4371)CTA>CTG p.L1457L ACAN_uc010upp.1_Silent_p.L1457L|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1457 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGAAGTTCTAGAGACTTCTA 0.517000 TPSG1 25823 broad.mit.edu 37 16 1272743 1272743 + Silent SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr16:1272743C>G uc002ckw.2 - 4 422 c.420G>C c.(418-420)CGG>CGC p.R140R NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN transmembrane tryptase preproprotein 140 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) CGGGCAGGATCCGGCTGGAGA 0.682000 C16orf71 146562 broad.mit.edu 37 16 4790653 4790653 + Missense_Mutation SNP C C T rs144741586 byFrequency TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr16:4790653C>T uc002cxn.2 + 4 1238 c.776C>T c.(775-777)TCG>TTG p.S259L NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 259 central_nervous_system(1) 1 CCAGTGCTCTCGCTCCAGGTA 0.637000 ACSM2A 123876 broad.mit.edu 37 16 20497938 20497938 + Missense_Mutation SNP A A C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr16:20497938A>C uc010bwe.2 + 15 1911 c.1672A>C c.(1672-1674)ATT>CTT p.I558L ACSM2A_uc002dhf.3_Missense_Mutation_p.I558L|ACSM2A_uc002dhg.3_Missense_Mutation_p.I558L|ACSM2A_uc010vay.1_Missense_Mutation_p.I479L|ACSM2A_uc002dhh.3_Missense_Mutation_p.I188L|uc002dhi.1_5'Flank NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 558 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CACAGGGAAAATTCAACGAGC 0.473000 ZNF668 79759 broad.mit.edu 37 16 31072937 31072937 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr16:31072937C>T uc010caf.2 - 3 1669 c.1312G>A c.(1312-1314)GTG>ATG p.V438M ZNF668_uc002eao.2_Missense_Mutation_p.V438M NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 TCACCTGCCACGCCCACAGGC 0.716000 ITGAM 3684 broad.mit.edu 37 16 31332822 31332822 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr16:31332822T>G uc002ebq.2 + 16 1974 c.1876T>G c.(1876-1878)TTC>GTC p.F626V ITGAM_uc002ebr.2_Missense_Mutation_p.F627V|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Missense_Mutation_p.F32V|ITGAM_uc002ebs.1_Missense_Mutation_p.F32V NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 626 Extracellular (Potential).|FG-GAP 7. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 AATCATGGAGTTCAATCCCAG 0.488000 PSKH1 5681 broad.mit.edu 37 16 67943234 67943234 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr16:67943234C>T uc002euv.2 + 2 752 c.582C>T c.(580-582)GAC>GAT p.D194D PSKH1_uc010cet.2_Silent_p.D194D NM_006742 NP_006733 P11801 KPSH1_HUMAN protein serine kinase H1 194 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) CCGAGCGTGACGCCACGCGGG 0.587000 KARS 3735 broad.mit.edu 37 16 75662592 75662592 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr16:75662592C>T uc002feq.2 - 13 1618 c.1570G>A c.(1570-1572)GAT>AAT p.D524N KARS_uc002fer.2_Missense_Mutation_p.D552N|KARS_uc002fes.2_Missense_Mutation_p.D368N NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 524 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) ATGGCCTCATCATCACCTGCA 0.512000 CNTNAP4 85445 broad.mit.edu 37 16 76486568 76486568 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr16:76486568T>C uc002feu.1 + 10 1620 c.1235T>C c.(1234-1236)CTT>CCT p.L412P CNTNAP4_uc002fev.1_Missense_Mutation_p.L276P|CNTNAP4_uc010chb.1_Missense_Mutation_p.L339P|CNTNAP4_uc002fex.1_Missense_Mutation_p.L415P|CNTNAP4_uc002few.2_Missense_Mutation_p.L387P NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 412 Extracellular (Potential).|Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTCAGTGAACTTCAGCTGATT 0.458000 SLC43A2 124935 broad.mit.edu 37 17 1489235 1489235 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:1489235C>T uc002fsv.2 - 10 1278 c.1189G>A c.(1189-1191)GAG>AAG p.E397K SLC43A2_uc002fsu.2_Missense_Mutation_p.E401K|SLC43A2_uc002fsw.2_Missense_Mutation_p.E397K|SLC43A2_uc002fsx.2_Missense_Mutation_p.E397K NM_152346 NP_689559 Q8N370 LAT4_HUMAN solute carrier family 43, member 2 397 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TCGGGCTCCTCGGAGGCGTCT 0.652000 SMG6 23293 broad.mit.edu 37 17 2203121 2203121 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:2203121A>G uc002fub.1 - 2 981 c.926T>C c.(925-927)ATT>ACT p.I309T SMG6_uc002fud.1_Missense_Mutation_p.I278T NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 309 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 AGGCTCATCAATTCTGTCCTC 0.512000 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) PFAS 5198 broad.mit.edu 37 17 8167849 8167849 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:8167849G>C uc002gkr.2 + 17 2120 c.1979G>C c.(1978-1980)AGC>ACC p.S660T PFAS_uc010vuv.1_Missense_Mutation_p.S236T|PFAS_uc002gks.2_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 660 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAGGGCTGAGCGTGCACCAG 0.647000 DNAH9 1770 broad.mit.edu 37 17 11684386 11684386 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:11684386A>G uc002gne.2 + 39 7681 c.7613A>G c.(7612-7614)AAG>AGG p.K2538R DNAH9_uc010coo.2_Missense_Mutation_p.K1832R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2538 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCAGGGAACAAGAAACTCATC 0.552000 RAB34 83871 broad.mit.edu 37 17 27043058 27043058 + Silent SNP G G T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:27043058G>T uc002hce.2 - 3 789 c.165C>A c.(163-165)GTC>GTA p.V55V RAB34_uc002hcg.2_Silent_p.V55V|RAB34_uc002hcf.2_Silent_p.V56V|RAB34_uc010was.1_Silent_p.V112V|RAB34_uc010wat.1_Silent_p.V112V|RAB34_uc002hch.2_Silent_p.V55V|RAB34_uc010wau.1_Intron|RAB34_uc010wav.1_Silent_p.V113V NM_031934 NP_114140 Q9BZG1 RAB34_HUMAN Ras-related protein RAB34 isoform 1 55 V -> I (in Ref. 3; BAC11141). protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 Lung NSC(42;0.00431) CCACCACAATGACCTTGGAGA 0.582000 MYO18A 399687 broad.mit.edu 37 17 27493224 27493224 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:27493224G>A uc002hdt.1 - 2 893 c.735C>T c.(733-735)CCC>CCT p.P245P MYO18A_uc010csa.1_Silent_p.P245P|MYO18A_uc002hdu.1_Silent_p.P245P NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 245 PDZ. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCTGGCCCTCGGGGCCCCGAT 0.682000 EFCAB5 374786 broad.mit.edu 37 17 28418902 28418902 + Silent SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:28418902C>G uc002het.2 + 21 4143 c.3951C>G c.(3949-3951)GTC>GTG p.V1317V EFCAB5_uc010cse.2_Silent_p.V1072V|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1317 calcium ion binding ovary(1)|skin(1) 2 TTGAAAATGTCAGGGAAGTCC 0.398000 EVI2A 2123 broad.mit.edu 37 17 29646016 29646016 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:29646016C>T uc002hgm.2 - 2 231 c.16G>A c.(16-18)GAA>AAA p.E6K NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.E29K NM_014210 NP_055025 P22794 EVI2A_HUMAN ecotropic viral integration site 2A isoform 2 6 integral to membrane transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) CCTGTGTGTTCCATGTCCGTG 0.393000 MMD 23531 broad.mit.edu 37 17 53481221 53481221 + Missense_Mutation SNP A A C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr17:53481221A>C uc002iui.2 - 5 638 c.353T>G c.(352-354)CTT>CGT p.L118R NM_012329 NP_036461 Q15546 PAQRB_HUMAN monocyte to macrophage 118 Helical; (Potential). cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity 0 AAGTTCACGAAGATTTAACCT 0.388000 ENOSF1 55556 broad.mit.edu 37 18 677406 677406 + Nonsense_Mutation SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr18:677406C>A uc002kku.3 - 14 1162 c.1087G>T c.(1087-1089)GAA>TAA p.E363* ENOSF1_uc002kkt.3_Nonsense_Mutation_p.E281*|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Nonsense_Mutation_p.E370*|ENOSF1_uc002kkv.3_Nonsense_Mutation_p.E350*|ENOSF1_uc002kkw.3_Nonsense_Mutation_p.E182*|ENOSF1_uc002kkx.3_Nonsense_Mutation_p.E287* NM_017512 NP_059982 Q7L5Y1 ENOF1_HUMAN enolase superfamily 1 isoform rTS beta 363 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding ovary(1) 1 TGCACCAGTTCACAGAGGCCA 0.438000 L3MBTL4 91133 broad.mit.edu 37 18 6093528 6093528 + Splice_Site SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr18:6093528C>A uc002kmz.3 - 15 1360 c.1200_splice c.e15-1 p.S400_splice L3MBTL4_uc010dkt.2_Splice_Site_p.S400_splice|L3MBTL4_uc002kmy.3_Splice_Site_p.S238_splice NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) GCCAAAAGCACTGGTTTGTAT 0.383000 PTPRM 5797 broad.mit.edu 37 18 8376482 8376482 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr18:8376482T>A uc002knn.3 + 24 3813 c.3310T>A c.(3310-3312)TGT>AGT p.C1104S PTPRM_uc010dkv.2_Missense_Mutation_p.C1117S|PTPRM_uc010wzl.1_Missense_Mutation_p.C891S NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1104 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) GAGGACTGGCTGTTTCATCGT 0.493000 NPC1 4864 broad.mit.edu 37 18 21124371 21124371 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr18:21124371G>A uc002kum.3 - 13 2341 c.2067C>T c.(2065-2067)GTC>GTT p.V689V NPC1_uc010xaz.1_Silent_p.V422V|NPC1_uc010xba.1_Silent_p.V534V NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 689 SSD.|Helical; (Potential). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GGAACGGGATGACTTCAATCA 0.527000 FAM59A 64762 broad.mit.edu 37 18 29867375 29867375 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr18:29867375G>A uc002kxl.2 - 4 1241 c.1185C>T c.(1183-1185)CTC>CTT p.L395L FAM59A_uc002kxk.1_Silent_p.L395L NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 395 ovary(1)|skin(1) 2 TGTTGCCATGGAGATTGTTGC 0.572000 ONECUT2 9480 broad.mit.edu 37 18 55143752 55143752 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr18:55143752C>T uc002lgo.2 + 2 1344 c.1312C>T c.(1312-1314)CGC>TGC p.R438C NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 438 Homeobox. organ morphogenesis nucleus sequence-specific DNA binding p.R438C(1) ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TGACCTCCAACGCCGAACACT 0.522000 ZNF236 7776 broad.mit.edu 37 18 74607072 74607072 + Silent SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr18:74607072C>A uc002lmi.2 + 10 1713 c.1515C>A c.(1513-1515)ACC>ACA p.T505T ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 505 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GCATCCACACCCACGAGAAGC 0.642000 ZNF236 7776 broad.mit.edu 37 18 74607093 74607093 + Missense_Mutation SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr18:74607093C>G uc002lmi.2 + 10 1734 c.1536C>G c.(1534-1536)TGC>TGG p.C512W ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 512 C2H2-type 11. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCTTCAAGTGCCCGCAGTGCT 0.617000 REXO1 57455 broad.mit.edu 37 19 1816466 1816466 + Silent SNP G G A rs144308719 byFrequency TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:1816466G>A uc002lua.3 - 14 3515 c.3420C>T c.(3418-3420)ATC>ATT p.I1140I REXO1_uc010dsq.2_Silent_p.I449I|REXO1_uc010xgs.1_Silent_p.I126I|MIR1909_hsa-mir-1909|MI0008330_5'Flank NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 1140 Exonuclease. nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTGTGTCCGATGAGGATGG 0.672000 FEM1A 55527 broad.mit.edu 37 19 4793212 4793212 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:4793212G>A uc002mbf.2 + 1 1485 c.1346G>A c.(1345-1347)CGG>CAG p.R449Q uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 449 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CTTCAGGACCGGGCCGCCAAA 0.642000 TMEM146 257062 broad.mit.edu 37 19 5778566 5778566 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:5778566C>T uc002mda.2 + 22 2337 c.2276C>T c.(2275-2277)GCG>GTG p.A759V NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 759 Cytoplasmic (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 AAGAAGTGTGCGACACAGCTG 0.627000 HNRNPM 4670 broad.mit.edu 37 19 8536272 8536272 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:8536272C>T uc010dwe.2 + 10 1038 c.958C>T c.(958-960)CTG>TTG p.L320L HNRNPM_uc010dwc.1_Silent_p.L320L|HNRNPM_uc010xke.1_Silent_p.L281L|HNRNPM_uc010dwd.2_Silent_p.L281L|HNRNPM_uc002mka.2_Silent_p.L200L NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 320 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 TGCCAATCACCTGAATAAAGG 0.463000 TPM4 7171 broad.mit.edu 37 19 16204371 16204371 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:16204371A>G uc002ndj.2 + 6 798 c.557A>G c.(556-558)GAA>GGA p.E186G TPM4_uc002ndi.2_Missense_Mutation_p.E222G|TPM4_uc002ndk.1_Missense_Mutation_p.E96G NM_003290 NP_003281 P67936 TPM4_HUMAN tropomyosin 4 isoform 2 186 By similarity. cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1) 13 GACAAATATGAAGAAGAAATT 0.383000 T ALK ALCL ZNF536 9745 broad.mit.edu 37 19 31040415 31040415 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:31040415T>G uc002nsu.1 + 4 4027 c.3889T>G c.(3889-3891)TTG>GTG p.L1297V ZNF536_uc010edd.1_Missense_Mutation_p.L1297V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GAGGCCAGACTTGTGTGGTAA 0.428000 TSHZ3 57616 broad.mit.edu 37 19 31769778 31769778 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:31769778T>G uc002nsy.3 - 2 986 c.921A>C c.(919-921)GAA>GAC p.E307D NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 307 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GAGTGACGGGTTCCTTCAGAG 0.532000 ZNF574 64763 broad.mit.edu 37 19 42585010 42585010 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:42585010C>T uc002osm.3 + 2 2421 c.2252C>T c.(2251-2253)ACG>ATG p.T751M ZNF574_uc002osk.3_Missense_Mutation_p.T841M NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 751 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) AGCACAGAGACGTCACTGCAG 0.627000 RTN2 6253 broad.mit.edu 37 19 45997476 45997476 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:45997476C>T uc002pcb.2 - 4 990 c.762G>A c.(760-762)CAG>CAA p.Q254Q RTN2_uc002pcc.2_Silent_p.Q254Q|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 254 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) TATCGAGGCACTGTCCCCTTA 0.552000 QPCTL 54814 broad.mit.edu 37 19 46195984 46195984 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:46195984G>C uc010xxr.1 + 1 244 c.23G>C c.(22-24)CGA>CCA p.R8P SNRPD2_uc002pcv.2_5'Flank|SNRPD2_uc002pcw.2_5'Flank|QPCTL_uc010ekn.2_Missense_Mutation_p.R8P NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 8 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) GGCCGCGGGCGACCCCGCCTG 0.672000 ZNF613 79898 broad.mit.edu 37 19 52447732 52447732 + Missense_Mutation SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:52447732A>T uc002pxz.1 + 6 1019 c.596A>T c.(595-597)AAC>ATC p.N199I ZNF613_uc002pya.1_Missense_Mutation_p.N163I NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) CGAACTCAAAACATAGATAAA 0.413000 ZNF347 84671 broad.mit.edu 37 19 53643983 53643983 + Nonsense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:53643983G>A uc002qbb.1 - 5 2167 c.2098C>T c.(2098-2100)CAG>TAG p.Q700* ZNF347_uc010eql.1_Nonsense_Mutation_p.Q701*|ZNF347_uc002qbc.1_Nonsense_Mutation_p.Q701* NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 700 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TGAACTCTCTGATGCCTTGCA 0.443000 NLRP8 126205 broad.mit.edu 37 19 56466706 56466706 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:56466706G>A uc002qmh.2 + 3 1353 c.1282G>A c.(1282-1284)GTC>ATC p.V428I NLRP8_uc010etg.2_Missense_Mutation_p.V428I NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 428 NACHT. cytoplasm ATP binding p.V428I(1) ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTCTGTGTTCGTCCGGTATAT 0.498000 ZNF550 162972 broad.mit.edu 37 19 58059343 58059343 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:58059343T>C uc002qpe.1 - 2 146 c.146A>G c.(145-147)CAT>CGT p.H49R ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCTCTGGTATGAACTTGTGC 0.453000 MYT1L 23040 broad.mit.edu 37 2 1926913 1926913 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:1926913T>C uc002qxe.2 - 10 1455 c.628A>G c.(628-630)AAA>GAA p.K210E MYT1L_uc002qxd.2_Missense_Mutation_p.K210E|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 210 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCAGCGATTTTGCCGAGGTTT 0.423000 FAM98A 25940 broad.mit.edu 37 2 33817259 33817259 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:33817259G>C uc002rpa.1 - 3 299 c.225C>G c.(223-225)TTC>TTG p.F75L FAM98A_uc010yne.1_5'UTR NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 75 ovary(1) 1 all_hematologic(175;0.115) CCTCAAGCTGGAATTCTTCAG 0.378000 AAK1 22848 broad.mit.edu 37 2 69870090 69870090 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:69870090G>A uc002sfp.2 - 2 588 c.83C>T c.(82-84)TCG>TTG p.S28L AAK1_uc010fdk.2_Missense_Mutation_p.S28L|AAK1_uc010yqm.1_Missense_Mutation_p.S28L|AAK1_uc010fdm.1_Missense_Mutation_p.S28L NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 28 Gly-rich. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 GCCCAGGCCCGAGGTGCTGCC 0.647000 C2orf42 54980 broad.mit.edu 37 2 70377631 70377631 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:70377631G>C uc002sgh.2 - 10 1910 c.1582C>G c.(1582-1584)CCC>GCC p.P528A NM_017880 NP_060350 Q9NWW7 CB042_HUMAN hypothetical protein LOC54980 528 0 TTAGATTGGGGAAGGATATCT 0.512000 SEMA4F 10505 broad.mit.edu 37 2 74900920 74900920 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:74900920C>T uc002sna.1 + 7 898 c.787C>T c.(787-789)CGC>TGC p.R263C SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.R230C|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 263 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CTCATACGAGCGCATTAAAGT 0.552000 AFF3 3899 broad.mit.edu 37 2 100623915 100623915 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:100623915T>A uc002tag.2 - 5 418 c.182A>T c.(181-183)AAG>ATG p.K61M AFF3_uc002taf.2_Missense_Mutation_p.K86M|AFF3_uc010fiq.1_Missense_Mutation_p.K61M|AFF3_uc010yvr.1_Missense_Mutation_p.K215M|AFF3_uc002tah.1_Missense_Mutation_p.K86M|AFF3_uc010fir.1_Missense_Mutation_p.K138M|AFF3_uc002tai.2_Translation_Start_Site NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 61 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TTCATCCCCCTTGTTAGTCTG 0.423000 RANBP2 5903 broad.mit.edu 37 2 109380603 109380603 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:109380603G>A uc002tem.3 + 20 3734 c.3608G>A c.(3607-3609)CGT>CAT p.R1203H NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1203 RanBD1 1. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AAATTGTTTCGTTTCGATGTA 0.393000 DPP10 57628 broad.mit.edu 37 2 116548896 116548896 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:116548896T>G uc002tla.1 + 19 2121 c.1664T>G c.(1663-1665)TTT>TGT p.F555C DPP10_uc002tlb.1_Missense_Mutation_p.F505C|DPP10_uc002tlc.1_Missense_Mutation_p.F551C|DPP10_uc002tle.2_Missense_Mutation_p.F559C|DPP10_uc002tlf.1_Missense_Mutation_p.F548C NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 555 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CCCAAAGATTTTATGGACCGA 0.299000 LCT 3938 broad.mit.edu 37 2 136575081 136575081 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:136575081C>T uc002tuu.1 - 6 1548 c.1537G>A c.(1537-1539)GAG>AAG p.E513K NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 513 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ACCACGCTCTCATTCTGCCAT 0.597000 SPOPL 339745 broad.mit.edu 37 2 139326627 139326627 + Missense_Mutation SNP C C T rs142534399 by1000genomes TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:139326627C>T uc002tvh.2 + 11 1556 c.1156C>T c.(1156-1158)CGC>TGC p.R386C NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 386 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) TGGCATTCCACGCAAACGGCT 0.443000 ZEB2 9839 broad.mit.edu 37 2 145156214 145156214 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:145156214T>G uc002tvu.2 - 8 3020 c.2540A>C c.(2539-2541)AAC>ACC p.N847T ZEB2_uc002tvv.2_Missense_Mutation_p.N841T|ZEB2_uc010zbm.1_Missense_Mutation_p.N818T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N876T NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 847 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) AGAAACACTGTTATGATCTAA 0.338000 GRB14 2888 broad.mit.edu 37 2 165365252 165365252 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:165365252C>T uc002ucl.2 - 7 1468 c.927G>A c.(925-927)AAG>AAA p.K309K GRB14_uc010zcv.1_Silent_p.K222K|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 309 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 AAGCCTGTACCTTAAAGCAGA 0.363000 WIPF1 7456 broad.mit.edu 37 2 175437098 175437098 + Silent SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:175437098A>G uc002uiy.2 - 6 767 c.435T>C c.(433-435)AGT>AGC p.S145S uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.S145S|WIPF1_uc010fqt.1_Silent_p.S145S|WIPF1_uc002ujc.1_Silent_p.S145S|WIPF1_uc002uiz.2_Silent_p.S145S|WIPF1_uc002ujb.1_Silent_p.S145S|WIPF1_uc010zep.1_Silent_p.S145S NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 145 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 TCCCTGGGCCACTTGGGGGTG 0.582000 HOXD10 3236 broad.mit.edu 37 2 176983843 176983843 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:176983843G>A uc002ukj.2 + 2 977 c.907G>A c.(907-909)GTT>ATT p.V303I NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 303 Homeobox. 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) CAGTAAGAGCGTTAACCTCAC 0.498000 ZNF804A 91752 broad.mit.edu 37 2 185801262 185801262 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:185801262T>G uc002uph.2 + 4 1733 c.1139T>G c.(1138-1140)GTT>GGT p.V380G NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 380 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GAGGAAAATGTTAAGCATAAC 0.383000 CDK15 65061 broad.mit.edu 37 2 202672278 202672278 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:202672278C>T uc002uyt.2 + 2 234 c.185C>T c.(184-186)GCT>GTT p.A62V CDK15_uc010ftm.2_5'UTR|CDK15_uc002uys.2_Missense_Mutation_p.A11V|CDK15_uc010ftn.1_Missense_Mutation_p.A11V|CDK15_uc010fto.1_Missense_Mutation_p.A62V NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 62 ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) GGACTTCAAGCTGCCCGTGCC 0.443000 INO80D 54891 broad.mit.edu 37 2 206892937 206892937 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:206892937C>T uc002vaz.3 - 6 1601 c.1196G>A c.(1195-1197)CGG>CAG p.R399Q NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 399 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 AAACGTATGCCGGCATTTCTT 0.502000 ERBB4 2066 broad.mit.edu 37 2 212251754 212251754 + Missense_Mutation SNP A A C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:212251754A>C uc002veg.1 - 27 3403 c.3305T>G c.(3304-3306)TTT>TGT p.F1102C ERBB4_uc002veh.1_Missense_Mutation_p.F1086C|ERBB4_uc010zji.1_Missense_Mutation_p.F1092C|ERBB4_uc010zjj.1_Missense_Mutation_p.F1076C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1102 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GGAGTCATCAAAAATCTCAGC 0.547000 TSP Lung(8;0.080) SMARCAL1 50485 broad.mit.edu 37 2 217279594 217279594 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr2:217279594A>G uc002vgc.3 + 3 497 c.167A>G c.(166-168)AAT>AGT p.N56S SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.N56S|SMARCAL1_uc010fvg.2_Missense_Mutation_p.N56S NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 56 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CCATCCCAAAATTTCCCAAGG 0.502000 Schimke_Immuno-Osseous_Dysplasia LRRN4 164312 broad.mit.edu 37 20 6022187 6022187 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr20:6022187G>C uc002wmo.2 - 5 1928 c.1704C>G c.(1702-1704)TGC>TGG p.C568W NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 568 Extracellular (Potential). integral to membrane skin(3) 3 CGGGGCACCGGCACCGCCACC 0.697000 POFUT1 23509 broad.mit.edu 37 20 30803221 30803221 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr20:30803221G>A uc002wxp.2 + 3 445 c.396G>A c.(394-396)CAG>CAA p.Q132Q POFUT1_uc002wxo.2_Silent_p.Q132Q|POFUT1_uc010ztt.1_Silent_p.Q24Q|POFUT1_uc010ztu.1_Intron NM_015352 NP_056167 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 isoform 1 132 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGGCAGCCCAGCGAAGCCCAG 0.592000 MYH7B 57644 broad.mit.edu 37 20 33585431 33585431 + Silent SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr20:33585431G>C uc002xbi.1 + 30 3953 c.3861G>C c.(3859-3861)CTG>CTC p.L1287L NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1245 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGGAGACTCTGACCCGCGCCA 0.612000 ATP9A 10079 broad.mit.edu 37 20 50238633 50238633 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr20:50238633C>T uc002xwg.1 - 19 2095 c.2095G>A c.(2095-2097)GAC>AAC p.D699N ATP9A_uc010gih.1_Missense_Mutation_p.D563N|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 699 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 ACGTGGATGTCTTGGTTTCTG 0.517000 APP 351 broad.mit.edu 37 21 27347518 27347518 + Silent SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr21:27347518A>G uc002ylz.2 - 11 1523 c.1323T>C c.(1321-1323)TCT>TCC p.S441S APP_uc010glk.2_Silent_p.S417S|APP_uc002yma.2_Silent_p.S422S|APP_uc011ach.1_Silent_p.S385S|APP_uc002ymb.2_Silent_p.S366S|APP_uc010glj.2_Silent_p.S310S|APP_uc011aci.1_Silent_p.S331S NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 441 Extracellular (Potential). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) CCTGTTCCAAAGATTCCACTT 0.498000 KRTAP13-3 337960 broad.mit.edu 37 21 31797958 31797958 + Silent SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr21:31797958A>G uc002yob.1 - 1 273 c.273T>C c.(271-273)TCT>TCC p.S91S NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 91 5 X 10 AA approximate repeats. intermediate filament ovary(1)|lung(1) 2 TAGTCAGGCAAGAATTGCAGA 0.567000 TIAM1 7074 broad.mit.edu 37 21 32493072 32493072 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr21:32493072C>T uc002yow.1 - 29 4862 c.4390G>A c.(4390-4392)GCA>ACA p.A1464T TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.A1404T NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1464 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GGGCTGCTTGCGGAGACGGCA 0.577000 DSCAM 1826 broad.mit.edu 37 21 42080477 42080477 + Silent SNP A A C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr21:42080477A>C uc002yyq.1 - 2 716 c.264T>G c.(262-264)CCT>CCG p.P88P DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 88 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGAAGCTTGAAGGAGGGAAGG 0.498000 TRMT2A 27037 broad.mit.edu 37 22 20103938 20103938 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr22:20103938T>C uc002zrk.1 - 3 437 c.222A>G c.(220-222)AAA>AAG p.K74K TRMT2A_uc002zrl.1_Silent_p.K74K|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Silent_p.K74K|TRMT2A_uc011ahk.1_Silent_p.K74K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 74 RRM. RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 GCAGCTCCAGTTTAAAGATCT 0.612000 TRMT2A 27037 broad.mit.edu 37 22 20103951 20103951 + Missense_Mutation SNP G G T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr22:20103951G>T uc002zrk.1 - 3 424 c.209C>A c.(208-210)TCT>TAT p.S70Y TRMT2A_uc002zrl.1_Missense_Mutation_p.S70Y|TRMT2A_uc002zrm.1_Translation_Start_Site|TRMT2A_uc002zrn.1_Missense_Mutation_p.S70Y|TRMT2A_uc011ahk.1_Missense_Mutation_p.S70Y|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 70 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 AAAGATCTCAGAGGTAAACAA 0.632000 CNTN6 27255 broad.mit.edu 37 3 1269633 1269633 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr3:1269633T>G uc003boz.2 + 4 581 c.314T>G c.(313-315)CTT>CGT p.L105R CNTN6_uc010hbo.2_Missense_Mutation_p.L100R|CNTN6_uc011asj.1_Missense_Mutation_p.L33R|CNTN6_uc003bpa.2_Missense_Mutation_p.L105R NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 105 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GCCACCAATCTTCTGGGGACA 0.423000 CNTN4 152330 broad.mit.edu 37 3 2908441 2908441 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr3:2908441A>G uc003bpc.2 + 7 681 c.460A>G c.(460-462)AGT>GGT p.S154G CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.S154G NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 154 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTCAGAGCTGAGTTATGCCTG 0.353000 IQSEC1 9922 broad.mit.edu 37 3 12977720 12977720 + Missense_Mutation SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr3:12977720C>G uc003bxt.2 - 3 847 c.838G>C c.(838-840)GAA>CAA p.E280Q IQSEC1_uc003bxu.3_Missense_Mutation_p.E158Q|IQSEC1_uc011auw.1_Missense_Mutation_p.E266Q NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 280 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 GTCTGGGGTTCGGTGTCCCGG 0.637000 ULK4 54986 broad.mit.edu 37 3 41938397 41938397 + Nonsense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr3:41938397G>A uc003ckv.3 - 15 1648 c.1447C>T c.(1447-1449)CGA>TGA p.R483* ULK4_uc003ckw.2_Nonsense_Mutation_p.R483*|ULK4_uc003ckx.1_Nonsense_Mutation_p.R483* NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 483 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) AGCTTGGCTCGGGAGGCCCCC 0.512000 QRICH1 54870 broad.mit.edu 37 3 49094328 49094329 + Missense_Mutation DNP CT CT TG TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr3:49094328_49094329CT>TG uc010hkq.2 - 4 1600_1601 c.1304_1305AG>CA c.(1303-1305)CAG>CCA p.Q435P QRICH1_uc003cvu.2_Missense_Mutation_p.Q435P|QRICH1_uc003cvv.2_Missense_Mutation_p.Q435P NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 435 Gln-rich. ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) gctgctgctgctgtggtggtgg 0.361000 ACTR8 93973 broad.mit.edu 37 3 53909990 53909990 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr3:53909990G>C uc003dhd.2 - 7 955 c.896C>G c.(895-897)TCT>TGT p.S299C ACTR8_uc003dhb.2_Missense_Mutation_p.S49C|ACTR8_uc003dhc.2_Missense_Mutation_p.S188C NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 299 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) ATTCCGATGAGACACCCCATC 0.463000 IMPG2 50939 broad.mit.edu 37 3 100951814 100951814 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr3:100951814T>A uc003duq.1 - 15 3247 c.3044A>T c.(3043-3045)AAG>ATG p.K1015M IMPG2_uc011bhe.1_Missense_Mutation_p.K878M|IMPG2_uc010hpj.1_RNA NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1015 Extracellular (Potential).|EGF-like 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GGCCTGAAACTTGCAAGGGTT 0.433000 BCHE 590 broad.mit.edu 37 3 165547928 165547928 + Missense_Mutation SNP T T G rs138271111 TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr3:165547928T>G uc003fem.3 - 2 1054 c.894A>C c.(892-894)CAA>CAC p.Q298H BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 298 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GAAGAATTTCTTGGGGATCTT 0.408000 ZBTB49 166793 broad.mit.edu 37 4 4303731 4303731 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr4:4303731T>A uc003ghu.2 + 3 343 c.168T>A c.(166-168)AAT>AAA p.N56K ZBTB49_uc003ghv.2_Intron|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 56 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TCTTTCAGAATTCTTCAAGCC 0.318000 PPP2R2C 5522 broad.mit.edu 37 4 6374386 6374386 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr4:6374386G>C uc003gjc.2 - 5 859 c.489C>G c.(487-489)AGC>AGG p.S163R PPP2R2C_uc003gjb.2_Missense_Mutation_p.S146R|PPP2R2C_uc011bwd.1_Missense_Mutation_p.S156R|PPP2R2C_uc011bwe.1_Missense_Mutation_p.S156R|PPP2R2C_uc003gja.2_Missense_Mutation_p.S163R|PPP2R2C_uc003gjd.1_Missense_Mutation_p.S251R NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 163 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TCCTCCGAGGGCTCACCTCCA 0.577000 SLIT2 9353 broad.mit.edu 37 4 20618698 20618698 + Missense_Mutation SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr4:20618698A>T uc003gpr.1 + 35 4217 c.4013A>T c.(4012-4014)AAG>ATG p.K1338M SLIT2_uc003gps.1_Missense_Mutation_p.K1330M NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1338 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CCATGCCACAAGAAGGTGTGT 0.597000 LRRC66 339977 broad.mit.edu 37 4 52883456 52883456 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr4:52883456T>C uc003gzi.2 - 1 337 c.324A>G c.(322-324)TTA>TTG p.L108L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 108 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CCAAAGCATGTAAATATGCAA 0.403000 HADH 3033 broad.mit.edu 37 4 108940820 108940820 + Nonsense_Mutation SNP G G T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr4:108940820G>T uc003hyq.2 + 4 693 c.544G>T c.(544-546)GAG>TAG p.E182* HADH_uc010ilx.2_Nonsense_Mutation_p.E182*|HADH_uc010ily.2_Nonsense_Mutation_p.E5*|HADH_uc003hyr.2_Nonsense_Mutation_p.E186* NM_005327 NP_005318 Q16836 HCDH_HUMAN L-3-hydroxyacyl-Coenzyme A dehydrogenase 182 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) GAAACTTGTGGAGGTCAGTGG 0.532000 FAT4 79633 broad.mit.edu 37 4 126412149 126412149 + Silent SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr4:126412149T>A uc003ifj.3 + 17 14172 c.14172T>A c.(14170-14172)CCT>CCA p.P4724P FAT4_uc011cgp.1_Silent_p.P2965P|FAT4_uc003ifi.1_Silent_p.P2201P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4724 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGCATCTTCCTATAAGGGATG 0.493000 ZDHHC11 79844 broad.mit.edu 37 5 837555 837555 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr5:837555G>A uc011cma.1 - 6 1209 c.825C>T c.(823-825)AAC>AAT p.N275N ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 275 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CTTCTTTGCGGTTATTAATGA 0.488000 C6 729 broad.mit.edu 37 5 41149516 41149516 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr5:41149516T>G uc003jmk.2 - 17 2660 c.2450A>C c.(2449-2451)AAG>ACG p.K817T C6_uc003jml.1_Missense_Mutation_p.K817T NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 817 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.K817R(1) ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGCCAAAAACTTACAAGCGGG 0.423000 MAP1B 4131 broad.mit.edu 37 5 71495786 71495786 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr5:71495786C>T uc003kbw.3 + 5 6845 c.6604C>T c.(6604-6606)CCA>TCA p.P2202S MAP1B_uc010iyw.1_Missense_Mutation_p.P2219S|MAP1B_uc010iyx.1_Missense_Mutation_p.P2076S|MAP1B_uc010iyy.1_Missense_Mutation_p.P2076S NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2202 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GGACCCACCTCCAGCTCCCGT 0.587000 SLCO6A1 133482 broad.mit.edu 37 5 101834337 101834337 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr5:101834337T>C uc003knn.2 - 1 384 c.212A>G c.(211-213)AAG>AGG p.K71R SLCO6A1_uc003kno.2_Missense_Mutation_p.K71R|SLCO6A1_uc003knp.2_Missense_Mutation_p.K71R|SLCO6A1_uc003knq.2_Missense_Mutation_p.K71R NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 71 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AACTGAGGACTTGGCTTTTTT 0.517000 PCDHB7 56129 broad.mit.edu 37 5 140553947 140553947 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr5:140553947G>A uc003lit.2 + 1 1705 c.1531G>A c.(1531-1533)GGC>AGC p.G511S NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 511 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCGGACAACGGCCACCTGTT 0.692000 SH3PXD2B 285590 broad.mit.edu 37 5 171766824 171766824 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr5:171766824T>C uc003mbr.2 - 13 1456 c.1285A>G c.(1285-1287)AGC>GGC p.S429G NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 429 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GACGCGTTGCTCGTCTTCTTG 0.582000 HIST1H3G 8355 broad.mit.edu 37 6 26271499 26271499 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:26271499T>C uc003nhi.2 - 1 114 c.114A>G c.(112-114)AAA>AAG p.K38K uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank NM_003534 NP_003525 P68431 H31_HUMAN H3 histone family, member H 38 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 AGCGATGAGGTTTCTTCACGC 0.647000 ZNF323 64288 broad.mit.edu 37 6 28294500 28294500 + Nonsense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:28294500G>A uc003nla.2 - 4 1064 c.664C>T c.(664-666)CGA>TGA p.R222* ZNF323_uc003nld.2_Nonsense_Mutation_p.R222*|ZNF323_uc010jra.2_Nonsense_Mutation_p.R222*|ZNF323_uc003nlb.2_Nonsense_Mutation_p.R63*|ZNF323_uc010jrb.2_Nonsense_Mutation_p.R63*|ZNF323_uc003nlc.2_Nonsense_Mutation_p.R222* NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 222 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TTGCTGTCTCGTTTACAAGTT 0.423000 OR2W1 26692 broad.mit.edu 37 6 29012626 29012626 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:29012626T>C uc003nlw.2 - 1 327 c.327A>G c.(325-327)TCA>TCG p.S109S NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GGCACTCAACTGAGCCCAACC 0.438000 TFEB 7942 broad.mit.edu 37 6 41655662 41655662 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:41655662C>T uc003oqs.1 - 6 956 c.654G>A c.(652-654)CAG>CAA p.Q218Q TFEB_uc003oqt.1_Silent_p.Q218Q|TFEB_uc003oqu.1_Silent_p.Q232Q|TFEB_uc003oqv.1_Silent_p.Q218Q|TFEB_uc010jxo.1_Silent_p.Q218Q|TFEB_uc003oqr.1_Silent_p.Q133Q NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 218 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GCTCTCGCTTCTGGGTCAGGT 0.498000 T ALPHA renal (childhood epithelioid) RUNX2 860 broad.mit.edu 37 6 45514583 45514583 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:45514583T>C uc011dvx.1 + 9 1317 c.1107T>C c.(1105-1107)CCT>CCC p.P369P RUNX2_uc011dvy.1_Silent_p.P347P|RUNX2_uc003oxt.2_Silent_p.P355P NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 369 Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 AACTGGGCCCTTTTTCAGACC 0.413000 IMPG1 3617 broad.mit.edu 37 6 76712691 76712691 + Missense_Mutation SNP A A C rs41269327 by1000genomes TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:76712691A>C uc003pik.1 - 12 1365 c.1235T>G c.(1234-1236)CTT>CGT p.L412R NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 412 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AACAGGAGGAAGTTCTGGACT 0.428000 DOPEY1 23033 broad.mit.edu 37 6 83806789 83806789 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:83806789C>T uc003pjs.1 + 3 353 c.93C>T c.(91-93)TCC>TCT p.S31S DOPEY1_uc011dyy.1_Silent_p.S31S|DOPEY1_uc010kbl.1_Silent_p.S31S NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 31 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTGAATACTCCAGTGAATGGG 0.353000 PRDM13 59336 broad.mit.edu 37 6 100054924 100054924 + Missense_Mutation SNP C C G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:100054924C>G uc003pqg.1 + 1 275 c.14C>G c.(13-15)GCC>GGC p.A5G NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 5 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CACGGAGCCGCCAGAGCGCCA 0.687000 C6orf204 387119 broad.mit.edu 37 6 118886759 118886759 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:118886759T>G uc003pxz.1 - 3 1541 c.953A>C c.(952-954)TAC>TCC p.Y318S C6orf204_uc003pya.1_Missense_Mutation_p.Y321S|C6orf204_uc003pyb.2_Missense_Mutation_p.Y318S|C6orf204_uc011ebj.1_Missense_Mutation_p.Y216S|C6orf204_uc003pyc.2_Missense_Mutation_p.Y321S|C6orf204_uc011ebl.1_Missense_Mutation_p.Y216S NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 318 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) AGCTAAACTGTAAGAATCCTC 0.463000 RNF217 154214 broad.mit.edu 37 6 125397989 125397989 + Nonsense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:125397989C>T uc003pzs.2 + 6 930 c.592C>T c.(592-594)CGA>TGA p.R198* RNF217_uc003pzr.2_Nonsense_Mutation_p.R255*|RNF217_uc003pzt.2_RNA NM_152553 NP_689766 Q8TC41 RN217_HUMAN ring finger protein 217 198 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) GAGATTAGTGCGAGGGTCAGT 0.448000 EYA4 2070 broad.mit.edu 37 6 133769263 133769263 + Missense_Mutation SNP G G T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:133769263G>T uc003qec.3 + 5 681 c.223G>T c.(223-225)GTT>TTT p.V75F EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.V75F|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Missense_Mutation_p.V75F|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 75 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) AAACATGACTGTTTTAAACAC 0.433000 CITED2 10370 broad.mit.edu 37 6 139694714 139694714 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr6:139694714T>A uc003qip.1 - 2 612 c.368A>T c.(367-369)TAT>TTT p.Y123F NM_006079 NP_006070 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with 123 adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination cytoplasm|nuclear chromatin|nucleus chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity 0 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) ATGGTTGAAATACTGGTTGTT 0.597000 GPER 2852 broad.mit.edu 37 7 1132151 1132151 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:1132151G>A uc010ksd.1 + 2 1176 c.787G>A c.(787-789)GCG>ACG p.A263T C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A263T|GPER_uc003ska.1_Missense_Mutation_p.A263T|GPER_uc003skb.2_Missense_Mutation_p.A263T NM_001098201 NP_001091671 Q99527 GPER_HUMAN G protein-coupled receptor 30 263 Helical; Name=6; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CATGATCCTCGCGGTGGTGCT 0.687000 TRA2A 29896 broad.mit.edu 37 7 23547125 23547125 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:23547125C>T uc003swi.2 - 5 769 c.555G>A c.(553-555)CTG>CTA p.L185L TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Silent_p.L84L|TRA2A_uc011jzd.1_Silent_p.L84L NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 185 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 TTCTACCATCCAGCTCCATTC 0.413000 GLI3 2737 broad.mit.edu 37 7 42004358 42004358 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:42004358T>G uc011kbh.1 - 15 4404 c.4313A>C c.(4312-4314)AAT>ACT p.N1438T GLI3_uc011kbg.1_Missense_Mutation_p.N1379T NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1438 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 ACCAGAGTAATTCTGCAGATT 0.517000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome ADCY1 107 broad.mit.edu 37 7 45701777 45701777 + Silent SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:45701777C>A uc003tne.3 + 8 1587 c.1569C>A c.(1567-1569)CCC>CCA p.P523P ADCY1_uc003tnd.2_Silent_p.P298P NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 523 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCGAGATCCCCTTCTCCAATG 0.512000 PKD1L1 168507 broad.mit.edu 37 7 47886579 47886579 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:47886579A>G uc003tny.1 - 32 5051 c.5051T>C c.(5050-5052)GTA>GCA p.V1684A NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1684 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CTGGAAATGTACTGTATAGTT 0.423000 ZPBP 11055 broad.mit.edu 37 7 50070871 50070871 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:50070871C>T uc003tou.2 - 5 593 c.523G>A c.(523-525)GCT>ACT p.A175T ZPBP_uc011kci.1_Missense_Mutation_p.A101T|ZPBP_uc010kyw.2_Missense_Mutation_p.A174T NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 175 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TGATATCGAGCTGTGAACTGA 0.313000 ZNF479 90827 broad.mit.edu 37 7 57187980 57187980 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:57187980T>C uc010kzo.2 - 5 1413 c.1142A>G c.(1141-1143)TAC>TGC p.Y381C NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 381 C2H2-type 8. 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) TTCACATGTGTAGGGTTTCTC 0.443000 TBL2 26608 broad.mit.edu 37 7 72984996 72984996 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:72984996C>T uc003tyh.2 - 7 1319 c.1185G>A c.(1183-1185)GCG>GCA p.A395A TBL2_uc011kex.1_Silent_p.A359A|TBL2_uc010lbg.2_Silent_p.A300A|TBL2_uc003tyi.2_Silent_p.A230A|TBL2_uc011key.1_Silent_p.A266A|TBL2_uc010lbh.2_Silent_p.A300A NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 395 WD 7. 0 Lung NSC(55;0.0659)|all_lung(88;0.152) ACAGCCGCACCGCCCGGTCCC 0.637000 SEMA3D 223117 broad.mit.edu 37 7 84727149 84727149 + Missense_Mutation SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:84727149A>T uc003uic.2 - 2 324 c.284T>A c.(283-285)CTG>CAG p.L95Q SEMA3D_uc010led.2_Missense_Mutation_p.L95Q|SEMA3D_uc010lee.1_Missense_Mutation_p.L95Q NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 95 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TAAGTCAACCAGACTGAGTAG 0.358000 ABCB1 5243 broad.mit.edu 37 7 87179355 87179355 + Nonsense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:87179355G>A uc003uiz.1 - 14 1784 c.1366C>T c.(1366-1368)CAG>TAG p.Q456* ABCB1_uc011khc.1_Nonsense_Mutation_p.Q392* NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 456 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTAATATCCTGTCCATCAACA 0.403000 COL1A2 1278 broad.mit.edu 37 7 94039585 94039585 + Missense_Mutation SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:94039585A>T uc003ung.1 + 20 1538 c.1067A>T c.(1066-1068)GAG>GTG p.E356V COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 356 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCCAAAGGAGAGAGCGGTAAC 0.428000 HNSCC(75;0.22) CTTNBP2 83992 broad.mit.edu 37 7 117432038 117432038 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr7:117432038G>A uc003vjf.2 - 4 1304 c.1212C>T c.(1210-1212)AAC>AAT p.N404N NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 404 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) GAGGGGCAGCGTTACTGGGAA 0.532000 NRG1 3084 broad.mit.edu 37 8 32599561 32599561 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:32599561A>G uc003xiv.2 + 7 1185 c.668A>G c.(667-669)GAG>GGG p.E223G NRG1_uc003xip.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Missense_Mutation_p.E223G|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Missense_Mutation_p.E113G|NRG1_uc003xiy.2_Intron|NRG1_uc010lvt.2_Intron|NRG1_uc011lbg.1_Missense_Mutation_p.E69G|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_RNA|NRG1_uc003xja.2_Missense_Mutation_p.E26G NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 223 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AGATGTACTGAGAATGTGCCC 0.413000 PREX2 80243 broad.mit.edu 37 8 68931899 68931899 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:68931899T>C uc003xxv.1 + 3 356 c.329T>C c.(328-330)CTT>CCT p.L110P PREX2_uc003xxu.1_Missense_Mutation_p.L110P|PREX2_uc011lez.1_Intron NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 110 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ACCTGCTTTCTTCACTTTGTA 0.353000 PREX2 80243 broad.mit.edu 37 8 69069612 69069612 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:69069612T>C uc003xxv.1 + 35 4314 c.4287T>C c.(4285-4287)TTT>TTC p.F1429F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1429 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 TGGAAGAATTTCAAGCTCAGA 0.348000 TPD52 7163 broad.mit.edu 37 8 80954873 80954873 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:80954873T>C uc003ybr.1 - 5 859 c.537A>G c.(535-537)GAA>GAG p.E179E TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.E162E|TPD52_uc003ybt.1_Silent_p.E139E|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA NM_001025252 NP_001020423 P55327 TPD52_HUMAN tumor protein D52 isoform 1 179 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TTTCGACCTTTTCTTCAAATG 0.308000 CNBD1 168975 broad.mit.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:88365898T>C uc003ydy.2 + 10 1235 c.1187T>C c.(1186-1188)CTT>CCT p.L396P NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 396 cNMP. ovary(3) 3 ATGGGGAAACTTAAGGAGAAG 0.323000 KIAA1429 25962 broad.mit.edu 37 8 95539023 95539023 + Silent SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:95539023G>A uc003ygo.1 - 8 1462 c.1449C>T c.(1447-1449)ATC>ATT p.I483I KIAA1429_uc003ygp.2_Silent_p.I483I|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 483 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ATAATCCACTGATCACTCCTG 0.413000 ANGPT1 284 broad.mit.edu 37 8 108334284 108334284 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:108334284T>G uc003ymn.2 - 4 1116 c.648A>C c.(646-648)AAA>AAC p.K216N ANGPT1_uc011lhv.1_Missense_Mutation_p.K16N|ANGPT1_uc003ymo.2_Missense_Mutation_p.K216N|ANGPT1_uc003ymp.3_Missense_Mutation_p.K16N NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 216 Potential. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GAAGGTTCTCTTTCTCTTCCT 0.368000 TRPS1 7227 broad.mit.edu 37 8 116617214 116617214 + Missense_Mutation SNP T T G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:116617214T>G uc003ynz.2 - 3 1402 c.943A>C c.(943-945)ACA>CCA p.T315P TRPS1_uc011lhy.1_Missense_Mutation_p.T319P|TRPS1_uc003yny.2_Missense_Mutation_p.T328P|TRPS1_uc010mcy.2_Missense_Mutation_p.T315P NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 315 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CCAATGAATGTTCCACCTGAA 0.468000 Langer-Giedion_syndrome FAM83H 286077 broad.mit.edu 37 8 144812561 144812561 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:144812561C>T uc003yzk.2 - 2 261 c.192G>A c.(190-192)GTG>GTA p.V64V FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 64 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGTGTCGGCTCACATGTTCCA 0.632000 SPATC1 375686 broad.mit.edu 37 8 145096245 145096245 + Silent SNP C C G rs17854818 TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:145096245C>G uc011lkw.1 + 4 1521 c.1419C>G c.(1417-1419)GTC>GTG p.V473V SPATC1_uc011lkx.1_Intron NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 473 V -> A (in Ref. 3; AAH53547). ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTTCACTGTCTCCAACATCC 0.642000 ARHGAP39 80728 broad.mit.edu 37 8 145770695 145770695 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr8:145770695T>A uc003zdt.1 - 7 3014 c.2459A>T c.(2458-2460)AAG>ATG p.K820M ARHGAP39_uc011llk.1_Missense_Mutation_p.K820M|ARHGAP39_uc003zds.1_Missense_Mutation_p.K820M NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 820 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GGAGTGGAACTTGGGGGTGGG 0.617000 PTPRD 5789 broad.mit.edu 37 9 8521544 8521544 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr9:8521544G>A uc003zkk.2 - 19 1405 c.694C>T c.(694-696)CGC>TGC p.R232C PTPRD_uc003zkp.2_Missense_Mutation_p.R232C|PTPRD_uc003zkq.2_Missense_Mutation_p.R232C|PTPRD_uc003zkr.2_Missense_Mutation_p.R226C|PTPRD_uc003zks.2_Missense_Mutation_p.R222C|PTPRD_uc003zkl.2_Missense_Mutation_p.R232C|PTPRD_uc003zkm.2_Missense_Mutation_p.R219C|PTPRD_uc003zkn.2_Missense_Mutation_p.R232C|PTPRD_uc003zko.2_Missense_Mutation_p.R229C NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 232 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGGACACGGCGAACTGGAACA 0.448000 TSP Lung(15;0.13) SLC24A2 25769 broad.mit.edu 37 9 19786062 19786062 + Missense_Mutation SNP A A T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr9:19786062A>T uc003zoa.1 - 1 865 c.803T>A c.(802-804)CTT>CAT p.L268H SLC24A2_uc003zob.1_Missense_Mutation_p.L268H NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 268 Helical; (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGTTAAGAGAAGCAAGCTTTC 0.393000 GPR21 2844 broad.mit.edu 37 9 125796920 125796920 + Silent SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr9:125796920C>T uc011lzk.1 + 1 75 c.75C>T c.(73-75)GTC>GTT p.V25V RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA NM_005294 NP_005285 Q99679 GPR21_HUMAN G protein-coupled receptor 21 25 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 TGGAAACTGTCAATTTTTGCC 0.388000 DDX31 64794 broad.mit.edu 37 9 135505739 135505739 + Missense_Mutation SNP C C T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr9:135505739C>T uc004cbq.1 - 16 2010 c.1858G>A c.(1858-1860)GCC>ACC p.A620T DDX31_uc010mzu.1_Silent_p.P611P NM_022779 NP_073616 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 620 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) CCAATCCGGGCGGTTCTTCCA 0.478000 PNPLA7 375775 broad.mit.edu 37 9 140438250 140438250 + Missense_Mutation SNP G G T TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr9:140438250G>T uc004cnf.2 - 4 553 c.216C>A c.(214-216)AAC>AAA p.N72K PNPLA7_uc010ncj.1_Missense_Mutation_p.N97K NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 72 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CCACAAGGGTGTTGGGGAGTG 0.602000 WDR85 92715 broad.mit.edu 37 9 140468755 140468755 + Missense_Mutation SNP C C A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr9:140468755C>A uc004cnk.1 - 5 703 c.545G>T c.(544-546)AGG>ATG p.R182M WDR85_uc004cnl.1_Missense_Mutation_p.R6M|WDR85_uc004cnm.1_Translation_Start_Site|WDR85_uc004cnn.1_Intron NM_138778 NP_620133 Q9BTV6 WDR85_HUMAN WD repeat domain 85 182 peptidyl-diphthamide biosynthetic process from peptidyl-histidine 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509) CAGCCTGGGCCTCGTCTCATT 0.547000 MAGEB6 158809 broad.mit.edu 37 X 26212113 26212113 + Silent SNP T T C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chrX:26212113T>C uc004dbr.2 + 2 299 c.150T>C c.(148-150)GGT>GGC p.G50G MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 50 Ser-rich. ovary(3) 3 CTTGTCTGGGTGATTGTCGTA 0.542000 PAGE4 9506 broad.mit.edu 37 X 49597160 49597160 + Missense_Mutation SNP G G C TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chrX:49597160G>C uc004don.1 + 4 278 c.199G>C c.(199-201)GAT>CAT p.D67H NM_007003 NP_008934 O60829 GAGC1_HUMAN G antigen, family C, 1 67 0 Ovarian(276;0.236) CCAGGAAATGGATCTGGAAAA 0.343000 MAGEC1 9947 broad.mit.edu 37 X 140996300 140996300 + Missense_Mutation SNP T T A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chrX:140996300T>A uc004fbt.2 + 4 3396 c.3110T>A c.(3109-3111)TTT>TAT p.F1037Y MAGEC1_uc010nsl.1_Missense_Mutation_p.F104Y NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1037 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CACTTTGCCTTTGGGGAGCCC 0.542000 HNSCC(15;0.026) MAGEC2 51438 broad.mit.edu 37 X 141291458 141291458 + Missense_Mutation SNP A A G TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chrX:141291458A>G uc004fbu.1 - 3 664 c.316T>C c.(316-318)TCT>CCT p.S106P NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 106 Ser-rich. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CATGAAAAAGAGGAGCAGCAG 0.413000 HNSCC(46;0.14) ATP6AP1 537 broad.mit.edu 37 X 153664188 153664188 + Missense_Mutation SNP G G A TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chrX:153664188G>A uc004flf.1 + 10 1425 c.1364G>A c.(1363-1365)CGC>CAC p.R455H ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.R415H|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank NM_001183 NP_001174 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory 455 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(3)|breast(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCATGGATCGCTTTGATGAC 0.562000 CDK5RAP2 55755 broad.mit.edu 37 9 123205914 123205915 + In_Frame_Ins INS - - TGC TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr9:123205914_123205915insTGC uc004bkf.2 - 23 3312_3313 c.3131_3132insGCA c.(3130-3132)CAA>CAGCAA p.1044_1044Q>QQ CDK5RAP2_uc010mvi.2_Intron|CDK5RAP2_uc004bke.2_In_Frame_Ins_p.329_329Q>QQ|CDK5RAP2_uc004bkg.2_In_Frame_Ins_p.1044_1044Q>QQ|CDK5RAP2_uc011lxw.1_In_Frame_Ins_p.309_309Q>QQ|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_In_Frame_Ins_p.309_309Q>QQ|CDK5RAP2_uc011lya.1_In_Frame_Ins_p.309_309Q>QQ|CDK5RAP2_uc004bkh.1_In_Frame_Ins_p.814_814Q>QQ|CDK5RAP2_uc004bki.2_In_Frame_Ins_p.811_811Q>QQ NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1044 Interaction with MAPRE1. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CGTAGCTTCTTTGCTGATCACT 0.356 USP38 84640 broad.mit.edu 37 4 144135153 144135153 + Frame_Shift_Del DEL A A - TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr4:144135152_144135152GA>G uc003ijb.3 + 8 2557 c.2023_2023GA>G c.(2023-2025)gaafs p.E675fs USP38_uc003ija.4_Frame_Shift_Del_p.E675fs|USP38_uc003ijc.3_Non-coding_Transcript NM_032557 NP_115946 Q8NB14 UBP38_HUMAN Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA. 675 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) ACTTGTGAATGAAAAAACCAT 0.403 PCDHAC2 56134 broad.mit.edu 37 5 140306936 140306937 + In_Frame_Ins INS - - GGG TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr5:140306935_140306936A>AGGG uc003lih.2 + 0 634_635 c.458_459A>AGGG c.(457-459)gag>gAGGG p.E153E PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_In_Frame_Ins_p.E153E NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 177 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGACGACGAGGGAAGCAATG 0.594 CDK5RAP2 55755 broad.mit.edu 37 9 123205915 123205916 + In_Frame_Ins INS - - TGC TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr9:123205914_123205915T>TTGC uc004bkf.3 - 22 3312_3313 c.3131_3132A>GCAA c.(3130-3132)caa>cGCAA p.Q1044R CDK5RAP2_uc010mvi.3_Intron|CDK5RAP2_uc004bke.3_In_Frame_Ins_p.Q329R|CDK5RAP2_uc004bkg.3_In_Frame_Ins_p.Q1044R|CDK5RAP2_uc011lxw.2_In_Frame_Ins_p.Q309R|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_In_Frame_Ins_p.Q309R|CDK5RAP2_uc011lya.2_In_Frame_Ins_p.Q309R|CDK5RAP2_uc004bkh.1_In_Frame_Ins_p.Q814R|CDK5RAP2_uc004bki.3_In_Frame_Ins_p.Q811R NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 1044 Interaction with MAPRE1. G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CGTAGCTTCTTTGCTGATCACT 0.460 EPOR 2057 broad.mit.edu 37 19 11488878 11488883 + In_Frame_Del DEL GCAAGA GCAAGA - rs62638744 byFrequency TCGA-BR-7901-01A-11D-2201-08 TCGA-BR-7901-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33ad3e8c-f5af-40e4-b6be-bbecd2e9cca1 bf460fea-4897-4f6b-a171-649f443ff56e g.chr19:11488877_11488882CGCAAGA>C uc002mrj.2 - 7 1440_1445 c.1305_1310TCTTGCG>G c.(1303-1311)ctcttgcgt>ctGt p.LR436del EPOR_uc010xly.2_In_Frame_Del_p.LR263del|EPOR_uc002mrk.2_In_Frame_Del_p.LR263del|EPOR_uc010xlx.2_Non-coding_Transcript NM_000121 NP_000112 P19235 EPOR_HUMAN Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. 436 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) TGTCCATGGACGCAAGAGCTGGGAGC 0.578 OREG0025254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)