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 AADACL4 343066 broad.mit.edu 37 1 12726355 12726355 + Nonsense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr1:12726355G>A uc001auf.2 + 4 833 c.833G>A c.(832-834)TGG>TAG p.W278* NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 278 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CCAGACGTCTGGAGGAAGTAC 0.532 LAPTM5 7805 broad.mit.edu 37 1 31210478 31210478 + Silent SNP G A A rs144620246 byFrequency TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr1:31210478G>A uc001bsc.2 - 6 670 c.579C>T c.(577-579)ATC>ATT p.I193I NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 193 Helical; (Potential). transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) TGATGAAGGCGATGGAAAAGA 0.542 GJA9 81025 broad.mit.edu 37 1 39340374 39340374 + Missense_Mutation SNP T C C TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr1:39340374T>C uc001cct.1 - 2 1678 c.1397A>G c.(1396-1398)GAC>GGC p.D466G RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 466 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) GTTTGGAATGTCAAGTGATTG 0.493 DMBX1 127343 broad.mit.edu 37 1 46976216 46976216 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr1:46976216G>A uc001cpx.2 + 2 253 c.238G>A c.(238-240)GCT>ACT p.A80T DMBX1_uc001cpw.2_Missense_Mutation_p.A75T NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 80 Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AGCGTTCACGGCTCAGCAGCT 0.582 SPTA1 6708 broad.mit.edu 37 1 158647548 158647548 + Missense_Mutation SNP C G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr1:158647548C>G uc001fst.1 - 7 1088 c.889G>C c.(889-891)GTT>CTT p.V297L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 297 Spectrin 4. 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) TCAGAGGCAACAAGGTCTTTG 0.478 USH2A 7399 broad.mit.edu 37 1 215848824 215848824 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr1:215848824C>T uc001hku.1 - 63 12816 c.12429G>A c.(12427-12429)TCG>TCA p.S4143S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4143 Fibronectin type-III 26.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTGAGGCGCCGAGTGTGCAC 0.572 HNSCC(13;0.011) WDR26 80232 broad.mit.edu 37 1 224586247 224586247 + Silent SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr1:224586247G>A uc001hop.3 - 11 1539 c.1173C>T c.(1171-1173)GGC>GGT p.G391G WDR26_uc001hoq.3_Silent_p.G375G|WDR26_uc010pvh.1_Silent_p.G98G NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 538 WD 4. cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) AAGCTAATCGGCCATTTTTTG 0.274 RYR2 6262 broad.mit.edu 37 1 237777926 237777926 + Missense_Mutation SNP T C C TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr1:237777926T>C uc001hyl.1 + 37 5618 c.5498T>C c.(5497-5499)ATC>ACC p.I1833T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1833 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCATGGGCATCTTTCACAAC 0.498 ARMC3 219681 broad.mit.edu 37 10 23235138 23235138 + Silent SNP A G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr10:23235138A>G uc001irm.3 + 3 197 c.114A>G c.(112-114)GAA>GAG p.E38E ARMC3_uc010qcv.1_Silent_p.E38E|ARMC3_uc010qcw.1_Intron NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 38 ARM 1. binding 0 ATTCTCCAGAAGAGGAAATTT 0.303 ARMC4 55130 broad.mit.edu 37 10 28283881 28283881 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr10:28283881G>A uc009xky.2 - 2 289 c.191C>T c.(190-192)GCG>GTG p.A64V ARMC4_uc001itz.2_Missense_Mutation_p.A64V NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 64 binding ovary(4)|skin(2) 6 TGCTGAGGGCGCCAAACTTGT 0.358 DNTT 1791 broad.mit.edu 37 10 98084132 98084132 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr10:98084132G>A uc001kmf.2 + 6 1030 c.860G>A c.(859-861)CGA>CAA p.R287Q DNTT_uc001kmg.2_Missense_Mutation_p.R287Q NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 287 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) AAATTTACACGAATGCAGAAA 0.453 ITPRIP 85450 broad.mit.edu 37 10 106075308 106075308 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr10:106075308C>T uc001kye.2 - 2 575 c.502G>A c.(502-504)GTG>ATG p.V168M ITPRIP_uc001kyf.2_Missense_Mutation_p.V168M|ITPRIP_uc001kyg.2_Missense_Mutation_p.V168M NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN inositol 1,4,5-triphosphate receptor interacting 168 plasma membrane 0 AAGTCATCCACGAAGCCTTCC 0.622 MRGPRX2 117194 broad.mit.edu 37 11 19077216 19077216 + Missense_Mutation SNP A G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr11:19077216A>G uc001mph.2 - 2 822 c.734T>C c.(733-735)CTA>CCA p.L245P NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 245 Helical; Name=6; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 CCATAATATTAGGAACCACTG 0.498 C11orf94 143678 broad.mit.edu 37 11 45928455 45928455 + Missense_Mutation SNP A G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr11:45928455A>G uc001nbs.3 - 2 177 c.140T>C c.(139-141)CTG>CCG p.L47P NM_001080446 NP_001073915 C9JXX5 CK094_HUMAN hypothetical protein LOC143678 47 extracellular region 0 CGAGAGTTCCAGGGGGGCGGA 0.617 SMTNL1 219537 broad.mit.edu 37 11 57314061 57314061 + Missense_Mutation SNP G C C TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr11:57314061G>C uc009ymh.1 + 7 1330 c.1330G>C c.(1330-1332)GAC>CAC p.D444H NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 426 ovary(1) 1 TGACGCCTTTGACTACGCAGA 0.587 NUMA1 4926 broad.mit.edu 37 11 71729532 71729532 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr11:71729532C>T uc001orl.1 - 11 942 c.770G>A c.(769-771)CGC>CAC p.R257H NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R257H|NUMA1_uc001orm.1_Missense_Mutation_p.R257H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R257H|NUMA1_uc001oro.1_Missense_Mutation_p.R257H|NUMA1_uc009ysy.1_Missense_Mutation_p.R257H|NUMA1_uc001orp.2_Missense_Mutation_p.R257H|NUMA1_uc001orq.2_Missense_Mutation_p.R257H NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 257 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 GCGGTCAATGCGCTGCTGCAT 0.557 T RARA APL ADAMTS20 80070 broad.mit.edu 37 12 43846340 43846340 + Missense_Mutation SNP C G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr12:43846340C>G uc010skx.1 - 13 1919 c.1919G>C c.(1918-1920)AGG>ACG p.R640T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 640 Cys-rich. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGGAAGCCACCTCACATTAGA 0.368 DCTN2 10540 broad.mit.edu 37 12 57939864 57939864 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr12:57939864C>T uc001som.1 - 2 184 c.52G>A c.(52-54)GAT>AAT p.D18N DCTN2_uc009zpu.1_Missense_Mutation_p.D18N|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_5'UTR|DCTN2_uc001sop.1_5'UTR|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Missense_Mutation_p.D18N NM_006400 NP_006391 Q13561 DCTN2_HUMAN dynactin 2 18 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding ovary(1) 1 TCATAAACATCTGGCTCATTC 0.517 TMTC2 160335 broad.mit.edu 37 12 83251229 83251229 + Nonsense_Mutation SNP C G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr12:83251229C>G uc001szt.2 + 2 956 c.524C>G c.(523-525)TCA>TGA p.S175* TMTC2_uc001szr.1_Nonsense_Mutation_p.S175*|TMTC2_uc001szs.1_Nonsense_Mutation_p.S175*|TMTC2_uc010suk.1_Intron NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 175 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 TTCCTGGGGTCAGGACTGTGC 0.507 TMTC2 160335 broad.mit.edu 37 12 83251308 83251308 + Silent SNP C G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr12:83251308C>G uc001szt.2 + 2 1035 c.603C>G c.(601-603)GTC>GTG p.V201V TMTC2_uc001szr.1_Silent_p.V201V|TMTC2_uc001szs.1_Silent_p.V201V|TMTC2_uc010suk.1_Intron NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 201 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 TTTATGATGTCTTTGTCTTTC 0.443 TMTC2 160335 broad.mit.edu 37 12 83251314 83251314 + Silent SNP C G G rs138847027 TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr12:83251314C>G uc001szt.2 + 2 1041 c.609C>G c.(607-609)GTC>GTG p.V203V TMTC2_uc001szr.1_Silent_p.V203V|TMTC2_uc001szs.1_Silent_p.V203V|TMTC2_uc010suk.1_Intron NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 203 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 ATGTCTTTGTCTTTCACAGGC 0.428 HVCN1 84329 broad.mit.edu 37 12 111089040 111089040 + Missense_Mutation SNP C A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr12:111089040C>A uc001trs.1 - 6 790 c.625G>T c.(625-627)GTG>TTG p.V209L HVCN1_uc001trq.1_Missense_Mutation_p.V209L|HVCN1_uc001trt.1_Missense_Mutation_p.V209L|HVCN1_uc010syd.1_Missense_Mutation_p.V189L NM_032369 NP_115745 Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 209 Helical; Name=Segment S4; (By similarity). response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity skin(1) 1 ATCCGGGCCACCCGCCACAGC 0.602 TBX5 6910 broad.mit.edu 37 12 114832609 114832609 + Silent SNP C T T rs139329918 byFrequency TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr12:114832609C>T uc001tvo.2 - 6 1095 c.600G>A c.(598-600)GCG>GCA p.A200A TBX5_uc001tvp.2_Silent_p.A200A|TBX5_uc001tvq.2_Silent_p.A150A|TBX5_uc010syv.1_Silent_p.A200A NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 200 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GAGTGCAGAACGCTGTATTTT 0.433 GCN1L1 10985 broad.mit.edu 37 12 120596393 120596393 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr12:120596393G>A uc001txo.2 - 25 2789 c.2776C>T c.(2776-2778)CGC>TGC p.R926C NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 926 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCAGCAGGCGCAGGGTCACG 0.582 SYT16 83851 broad.mit.edu 37 14 62547880 62547880 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr14:62547880G>A uc001xfu.1 + 4 1519 c.1322G>A c.(1321-1323)CGG>CAG p.R441Q SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 441 C2 1. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TACGCTGCCCGGAAGATGACC 0.567 NRXN3 9369 broad.mit.edu 37 14 80130234 80130234 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr14:80130234C>T uc001xun.2 + 14 2930 c.2439C>T c.(2437-2439)AAC>AAT p.N813N NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.N181N|NRXN3_uc010asw.2_Silent_p.N181N|NRXN3_uc001xur.3_Silent_p.N181N NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1186 Extracellular (Potential).|Laminin G-like 6. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TCACCAGGAACGGCGGCAACG 0.488 JAG2 3714 broad.mit.edu 37 14 105609172 105609172 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr14:105609172C>T uc001yqg.2 - 26 3981 c.3577G>A c.(3577-3579)GCG>ACG p.A1193T JAG2_uc010axf.2_Silent_p.R16R|JAG2_uc001yqf.2_Missense_Mutation_p.A597T|JAG2_uc001yqh.2_Missense_Mutation_p.A1155T NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 1193 Cytoplasmic (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) AACTTCTCCGCCTCCAGGGAG 0.512 SLC28A2 9153 broad.mit.edu 37 15 45556870 45556870 + Silent SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr15:45556870G>A uc001zva.2 + 7 671 c.606G>A c.(604-606)GTG>GTA p.V202V NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 202 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) GGAGGACAGTGTTTTCGGGCC 0.433 HERC1 8925 broad.mit.edu 37 15 63970125 63970125 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr15:63970125C>T uc002amp.2 - 37 7137 c.6989G>A c.(6988-6990)CGC>CAC p.R2330H NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2330 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CGTGGCATGGCGCCCAGTTTG 0.527 TLE3 7090 broad.mit.edu 37 15 70347545 70347545 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr15:70347545G>A uc002asm.2 - 15 2549 c.1430C>T c.(1429-1431)GCC>GTC p.A477V TLE3_uc002ask.2_Missense_Mutation_p.A404V|TLE3_uc002asl.2_Missense_Mutation_p.A477V|TLE3_uc010ukd.1_Missense_Mutation_p.A467V|TLE3_uc010bik.1_Missense_Mutation_p.A58V|TLE3_uc010bil.1_Missense_Mutation_p.A474V|TLE3_uc002asn.2_Missense_Mutation_p.A465V|TLE3_uc002asp.2_Missense_Mutation_p.A469V|TLE3_uc002aso.2_Missense_Mutation_p.A472V NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 477 organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 GATCTGCCGGGCGTGCCTCGG 0.642 WFIKKN1 117166 broad.mit.edu 37 16 683877 683877 + Nonsense_Mutation SNP C A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr16:683877C>A uc002cht.1 + 2 1709 c.1467C>A c.(1465-1467)TGC>TGA p.C489* WFIKKN1_uc002chs.1_3'UTR|uc010uuk.1_5'Flank NM_053284 NP_444514 Q96NZ8 WFKN1_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz 489 NTR. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity 0 Hepatocellular(780;0.00335) ACTGGGCCTGCCCCTGCCCCA 0.677 NOD2 64127 broad.mit.edu 37 16 50763750 50763750 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr16:50763750C>T uc002egm.1 + 11 3093 c.2988C>T c.(2986-2988)ACC>ACT p.T996T NOD2_uc010vgq.1_Silent_p.T41T NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 996 LRR 8. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) ACTGCATCACCTACCTAGGGG 0.408 KLHL36 79786 broad.mit.edu 37 16 84691222 84691222 + Missense_Mutation SNP C A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr16:84691222C>A uc002fig.2 + 3 950 c.809C>A c.(808-810)GCC>GAC p.A270D KLHL36_uc010chl.2_Missense_Mutation_p.A269D NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 270 skin(2) 2 ATCGAGGAGGCCGTGCGCTAC 0.677 ZC3H18 124245 broad.mit.edu 37 16 88643657 88643657 + Silent SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr16:88643657G>A uc002fky.2 + 2 326 c.126G>A c.(124-126)GGG>GGA p.G42G ZC3H18_uc010voy.1_Silent_p.G42G|ZC3H18_uc010voz.1_Silent_p.G42G|ZC3H18_uc010vpa.1_Silent_p.G42G NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 42 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) ACGGGGCGGGGGTGAGGGCTT 0.612 NLRP1 22861 broad.mit.edu 37 17 5461860 5461860 + Missense_Mutation SNP A G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:5461860A>G uc002gci.2 - 4 2711 c.2156T>C c.(2155-2157)CTC>CCC p.L719P NLRP1_uc002gcg.1_Missense_Mutation_p.L719P|NLRP1_uc002gck.2_Missense_Mutation_p.L719P|NLRP1_uc002gcj.2_Missense_Mutation_p.L719P|NLRP1_uc002gcl.2_Missense_Mutation_p.L719P|NLRP1_uc002gch.3_Missense_Mutation_p.L719P|NLRP1_uc010clh.2_Missense_Mutation_p.L719P NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 719 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) CAAGCAGTGGAGGGACTCCAG 0.537 DNAH2 146754 broad.mit.edu 37 17 7643075 7643075 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:7643075G>A uc002giu.1 + 8 1209 c.1195G>A c.(1195-1197)GCC>ACC p.A399T DNAH2_uc002git.2_Missense_Mutation_p.A481T|DNAH2_uc010vuk.1_Missense_Mutation_p.A399T NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 399 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTATCACTTCGCCCGCTGGGA 0.488 TP53I13 90313 broad.mit.edu 37 17 27899699 27899699 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:27899699C>T uc002hee.2 + 6 1091 c.1053C>T c.(1051-1053)AGC>AGT p.S351S NM_138349 NP_612358 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 351 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane 0 READ - Rectum adenocarcinoma(3;0.236) CAGCGGACAGCCAGGACACAG 0.701 RHBDL3 162494 broad.mit.edu 37 17 30611787 30611787 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:30611787C>T uc002hhe.1 + 3 259 c.245C>T c.(244-246)GCC>GTC p.A82V RHBDL3_uc010csw.1_Missense_Mutation_p.A74V|RHBDL3_uc010csx.1_Missense_Mutation_p.A82V|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 82 EF-hand 2. proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) CTGGCTCTTGCCGACAGCCAC 0.592 ZNF207 7756 broad.mit.edu 37 17 30685561 30685561 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:30685561C>T uc002hhh.3 + 3 356 c.208C>T c.(208-210)CCT>TCT p.P70S ZNF207_uc002hhj.3_Missense_Mutation_p.P70S|ZNF207_uc002hhi.3_Missense_Mutation_p.P70S|ZNF207_uc010csz.2_Missense_Mutation_p.P73S|ZNF207_uc002hhk.1_Missense_Mutation_p.P70S|ZNF207_uc002hhl.1_5'Flank NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 70 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) AAATGCAATACCTGGAAGAAC 0.333 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A T T rs113059833 by1000genomes TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:39261693A>T uc010wfp.1 + 1 53 c.53A>T c.(52-54)GAC>GTC p.D18V NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament 0 TGCGGCCAAGACCTCTGTCAG 0.627 KRT9 3857 broad.mit.edu 37 17 39725742 39725742 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:39725742C>T uc002hxe.3 - 4 1046 c.980G>A c.(979-981)CGT>CAT p.R327H JUP_uc010wfs.1_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN keratin 9 327 Rod.|Coil 2. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|pancreas(1) 3 Breast(137;0.000307) ATACTCCTGACGCATGTCATT 0.448 ACLY 47 broad.mit.edu 37 17 40065323 40065323 + Splice_Site SNP T G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:40065323T>G uc002hyg.2 - 6 700 c.537_splice c.e6-1 p.E179_splice ACLY_uc002hyh.2_Splice_Site_p.E179_splice|ACLY_uc002hyi.2_Splice_Site_p.E233_splice|ACLY_uc010wfx.1_Splice_Site_p.E233_splice|ACLY_uc010wfy.1_Intron NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) GCCAGAATTCTAGAGGTGGGA 0.562 CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A - - TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr17:45219612delA uc002ild.3 - 11 1488 c.1361delT c.(1360-1362)CTAfs p.L454fs CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 TGCTTTTTGTAGATTAAAGGC 0.308 SMCHD1 23347 broad.mit.edu 37 18 2752502 2752502 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr18:2752502G>A uc002klm.3 + 34 4487 c.4298G>A c.(4297-4299)TGT>TAT p.C1433Y SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1433 chromosome organization ATP binding 0 ACATTTAGTTGTAATAAAATA 0.303 LAMA1 284217 broad.mit.edu 37 18 7036079 7036079 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr18:7036079C>T uc002knm.2 - 13 1840 c.1746G>A c.(1744-1746)GCG>GCA p.A582A LAMA1_uc010wzj.1_Silent_p.A58A NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 582 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATCCGCCAAACGCAGTCAGCT 0.463 PTBP1 5725 broad.mit.edu 37 19 804908 804908 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr19:804908C>T uc002lpr.2 + 7 792 c.686C>T c.(685-687)GCG>GTG p.A229V PTBP1_uc002lpp.2_Missense_Mutation_p.A229V|PTBP1_uc002lpq.2_Missense_Mutation_p.A229V|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.A199V NM_031991 NP_114368 P26599 PTBP1_HUMAN polypyrimidine tract-binding protein 1 isoform 229 RRM 2. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding kidney(1)|skin(1) 2 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCAGTATGCGGACCCCGTG 0.662 SBNO2 22904 broad.mit.edu 37 19 1119057 1119057 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr19:1119057G>A uc002lrk.3 - 14 1718 c.1480C>T c.(1480-1482)CCG>TCG p.P494S SBNO2_uc002lrj.3_Missense_Mutation_p.P437S|SBNO2_uc010dse.2_Missense_Mutation_p.P487S|SBNO2_uc010xgj.1_Intron|SBNO2_uc010dsf.2_Missense_Mutation_p.P437S NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 494 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GGGGCCAGCGGGATCTCCTCG 0.657 TLE2 7089 broad.mit.edu 37 19 3013710 3013710 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr19:3013710G>A uc002lww.2 - 11 1093 c.830C>T c.(829-831)TCT>TTT p.S277F TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.S278F|TLE2_uc010xhc.1_Missense_Mutation_p.S155F|TLE2_uc010dti.2_Missense_Mutation_p.S291F|TLE2_uc010xhd.1_Missense_Mutation_p.S185F NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 277 Pro/Ser-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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) GCCAAGGCTAGAGGCCAAGGA 0.642 MUC16 94025 broad.mit.edu 37 19 8997446 8997446 + Missense_Mutation SNP T G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr19:8997446T>G uc002mkp.2 - 59 41180 c.40976A>C c.(40975-40977)AAG>ACG p.K13659T MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K476T|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13661 Extracellular (Potential).|SEA 11. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGTTGAACTTCCTGGAGCC 0.567 ZNF527 84503 broad.mit.edu 37 19 37880558 37880558 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr19:37880558G>A uc010efk.1 + 5 1718 c.1607G>A c.(1606-1608)AGT>AAT p.S536N ZNF527_uc002ogf.3_Missense_Mutation_p.S504N|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 536 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGGCCTTCAGTTGTGGCTCA 0.398 ZNF229 7772 broad.mit.edu 37 19 44933459 44933459 + Silent SNP A G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr19:44933459A>G uc002oze.1 - 6 1931 c.1497T>C c.(1495-1497)AGT>AGC p.S499S ZNF229_uc010ejk.1_Silent_p.S153S|ZNF229_uc010ejl.1_Silent_p.S493S NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 499 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) ACGAGTTGTGACTGAAACCTT 0.517 ZNF816A 125893 broad.mit.edu 37 19 53454033 53454033 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr19:53454033C>T uc002qal.1 - 5 1296 c.995G>A c.(994-996)CGT>CAT p.R332H ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.R316H NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 332 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) ATGAAGTCTACGATGGCATCT 0.423 TPO 7173 broad.mit.edu 37 2 1459947 1459947 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:1459947G>A uc002qww.2 + 7 803 c.712G>A c.(712-714)GAC>AAC p.D238N TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.D238N|TPO_uc002qwr.2_Missense_Mutation_p.D238N|TPO_uc002qwx.2_Missense_Mutation_p.D238N|TPO_uc010yio.1_Missense_Mutation_p.D238N|TPO_uc010yip.1_Missense_Mutation_p.D238N NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 238 Extracellular (Potential). Heme (covalent; via 2 links) (By similarity). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACAATACATCGACCACGACAT 0.522 NT5C1B 93034 broad.mit.edu 37 2 18765887 18765887 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:18765887C>T uc002rcz.2 - 5 900 c.796G>A c.(796-798)GAG>AAG p.E266K NT5C1B_uc002rcy.2_Missense_Mutation_p.E266K|NT5C1B_uc010exr.2_Missense_Mutation_p.E208K|NT5C1B_uc010yju.1_Missense_Mutation_p.E206K|NT5C1B_uc002rda.2_Missense_Mutation_p.E206K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E283K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E249K|NT5C1B_uc010exs.2_Missense_Mutation_p.E268K|NT5C1B_uc002rdb.1_Missense_Mutation_p.E58K NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 266 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TGCTGCTGCTCGGACAGAGAG 0.652 APOB 338 broad.mit.edu 37 2 21231021 21231021 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:21231021G>A uc002red.2 - 26 8847 c.8719C>T c.(8719-8721)CGC>TGC p.R2907C NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2907 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATCTCGTTGCGCAGGTCAGCC 0.468 ALK 238 broad.mit.edu 37 2 29443572 29443572 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:29443572C>T uc002rmy.2 - 23 4552 c.3645G>A c.(3643-3645)CCG>CCA p.P1215P ALK_uc010ymo.1_Silent_p.P147P NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1215 Protein kinase.|Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TCTCACTCACCGGGCGAGGGC 0.612 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:107049631C>T uc010ywi.1 - 16 2373 c.2316G>A c.(2314-2316)GCG>GCA p.A772A NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding ovary(1) 1 TTTCTGAATCCGCATTTCGCA 0.373 POTEF 728378 broad.mit.edu 37 2 130877830 130877830 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:130877830C>T uc010fmh.2 - 3 659 c.259G>A c.(259-261)GAC>AAC p.D87N NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 87 cell cortex ATP binding skin(3)|ovary(2) 5 GCAGAGTCGTCGTGGTCTCCA 0.602 POTEE 445582 broad.mit.edu 37 2 131976234 131976234 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:131976234G>A uc002tsn.2 + 1 311 c.259G>A c.(259-261)GAC>AAC p.D87N PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 87 ATP binding 0 TGGAGACCACGACGACTCTGC 0.602 SCN1A 6323 broad.mit.edu 37 2 166850722 166850722 + Missense_Mutation SNP G A A rs121917993 TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:166850722G>A uc010zcz.1 - 25 4771 c.4753C>T c.(4753-4755)CGC>TGC p.R1585C NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1596 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TAATAATGGCGTAGAGAGATG 0.338 TTN 7273 broad.mit.edu 37 2 179587016 179587016 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:179587016C>T uc010zfg.1 - 74 18990 c.18766G>A c.(18766-18768)GCA>ACA p.A6256T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2917T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7183 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTAGAAGATGCTGTTCCAAGT 0.408 UBE2E3 10477 broad.mit.edu 37 2 181846854 181846854 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:181846854G>A uc002unq.1 + 3 304 c.85G>A c.(85-87)GCT>ACT p.A29T UBE2E3_uc002unr.1_Missense_Mutation_p.A29T|UBE2E3_uc010fri.1_Missense_Mutation_p.A29T NM_182678 NP_872619 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 29 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity ovary(1) 1 AGACCCAGCCGCTCCAGAGCC 0.507 HIBCH 26275 broad.mit.edu 37 2 191110923 191110923 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr2:191110923C>T uc002uru.2 - 10 849 c.766G>A c.(766-768)GAC>AAC p.D256N HIBCH_uc002urv.2_Missense_Mutation_p.D256N NM_014362 NP_055177 Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-Coenzyme A hydrolase isoform 256 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) AAAGACTTGTCTCGATCAATC 0.254 PRIC285 85441 broad.mit.edu 37 20 62198405 62198405 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr20:62198405C>T uc002yfm.2 - 7 3198 c.2306G>A c.(2305-2307)GGC>GAC p.G769D PRIC285_uc002yfl.1_Missense_Mutation_p.G200D NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 769 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CGGAACCTTGCCCCTGGCGTG 0.652 KRTAP20-2 337976 broad.mit.edu 37 21 32007617 32007617 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr21:32007617G>A uc011adg.1 + 1 35 c.35G>A c.(34-36)CGT>CAT p.R12H NM_181616 NP_853647 Q3LI61 KR202_HUMAN keratin associated protein 20-2 12 intermediate filament central_nervous_system(1) 1 GGTGGTCTGCGTTATGGCTAT 0.522 ICOSLG 23308 broad.mit.edu 37 21 45657002 45657002 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr21:45657002C>T uc002zee.2 - 3 288 c.154G>A c.(154-156)GTA>ATA p.V52I ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Missense_Mutation_p.V52I NM_015259 NP_056074 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand precursor 52 Ig-like V-type.|Extracellular (Potential). B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding 0 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) TGCCAATATACGTAAACATCA 0.522 C21orf29 54084 broad.mit.edu 37 21 45945664 45945664 + Missense_Mutation SNP A G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr21:45945664A>G uc002zfe.1 - 8 1274 c.1208T>C c.(1207-1209)ATT>ACT p.I403T C21orf29_uc010gpv.1_Missense_Mutation_p.I335T NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 403 EAR 2. cell adhesion extracellular region structural molecule activity 0 CCATTTGTAAATGACAGAGAA 0.522 PCBP3 54039 broad.mit.edu 37 21 47355174 47355174 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr21:47355174C>T uc002zhq.1 + 12 989 c.864C>T c.(862-864)GAC>GAT p.D288D PCBP3_uc010gqb.2_Silent_p.D288D|PCBP3_uc002zhp.1_Silent_p.D268D|PCBP3_uc002zhs.1_Silent_p.D262D|PCBP3_uc002zhr.1_Silent_p.D287D|PCBP3_uc002zht.1_Silent_p.D278D NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 288 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CAGGTCTGGACGCCAGCCCAC 0.577 RFPL2 10739 broad.mit.edu 37 22 32586778 32586778 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr22:32586778C>T uc003amg.3 - 5 2054 c.1118G>A c.(1117-1119)CGT>CAT p.R373H RFPL2_uc003ame.3_Missense_Mutation_p.R312H|RFPL2_uc003amf.3_Missense_Mutation_p.R283H|RFPL2_uc003amh.3_Missense_Mutation_p.R283H NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 373 zinc ion binding skin(1) 1 CTCCCCAGGACGGACTGGAGC 0.463 RFPL3 10738 broad.mit.edu 37 22 32756800 32756800 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr22:32756800G>A uc003amj.2 + 2 1140 c.935G>A c.(934-936)CGT>CAT p.R312H RFPL3_uc010gwn.2_Missense_Mutation_p.R283H|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 312 zinc ion binding ovary(1) 1 GCTCCAGTCCGTCCTGGGGAG 0.458 TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC - - TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr22:42610776_42610778delTGC uc003bcj.1 - 1 668_670 c.534_536delGCA c.(532-537)CAGCAA>CAA p.178_179QQ>Q TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q|TCF20_uc003bnt.2_In_Frame_Del_p.178_179QQ>Q NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 178_179 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CTGCTGGACTTGCTGCTGCTGCT 0.571 NBEAL2 23218 broad.mit.edu 37 3 47041457 47041457 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr3:47041457C>T uc003cqp.2 + 27 4047 c.3868C>T c.(3868-3870)CGG>TGG p.R1290W NBEAL2_uc010hjm.1_Intron|NBEAL2_uc010hjn.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1290 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TGTGCTGACCCGGCTATATGT 0.637 AMT 275 broad.mit.edu 37 3 49459869 49459870 + Frame_Shift_Ins INS - A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr3:49459869_49459870insA uc003cww.2 - 1 143_144 c.14_15insT c.(13-15)GTAfs p.V5fs AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Frame_Shift_Ins_p.V5fs|AMT_uc011bco.1_Frame_Shift_Ins_p.V5fs|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Frame_Shift_Ins_p.V5fs|NICN1_uc003cwz.1_3'UTR NM_000481 NP_000472 P48728 GCST_HUMAN aminomethyltransferase isoform 1 precursor 5 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CCACCACACTTACAGCCCTCTG 0.639 CACNA2D2 9254 broad.mit.edu 37 3 50414925 50414925 + Missense_Mutation SNP G T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr3:50414925G>T uc003daq.2 - 17 1637 c.1599C>A c.(1597-1599)GAC>GAA p.D533E CACNA2D2_uc003dap.2_Missense_Mutation_p.D533E NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 533 Cache.|Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) GCCTCTTGATGTCATTCAGAG 0.597 NR1I2 8856 broad.mit.edu 37 3 119536025 119536025 + Missense_Mutation SNP T C C TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr3:119536025T>C uc003edj.2 + 9 3110 c.1271T>C c.(1270-1272)CTC>CCC p.L424P NR1I2_uc003edi.2_Missense_Mutation_p.L387P|NR1I2_uc003edk.2_Missense_Mutation_p.L463P|NR1I2_uc003edl.2_Missense_Mutation_p.L312P NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 424 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) GCTACGCCCCTCATGCAGGAG 0.622 CSTA 1475 broad.mit.edu 37 3 122060340 122060340 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr3:122060340G>A uc003eex.2 + 3 352 c.223G>A c.(223-225)GGA>AGA p.G75R NM_005213 NP_005204 P01040 CYTA_HUMAN cystatin A 75 keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity 0 GBM - Glioblastoma multiforme(114;0.155) AAGTCTTCCCGGACAAAATGA 0.378 CLSTN2 64084 broad.mit.edu 37 3 140178466 140178466 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr3:140178466C>T uc003etn.2 + 7 1267 c.1077C>T c.(1075-1077)GAC>GAT p.D359D CLSTN2_uc003etm.2_Silent_p.D359D NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 359 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TCAAGTTTGACGGCAGGCAGG 0.577 HNSCC(16;0.037) ETV5 2119 broad.mit.edu 37 3 185766628 185766628 + Missense_Mutation SNP A G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr3:185766628A>G uc003fpz.2 - 13 1580 c.1333T>C c.(1333-1335)TAC>CAC p.Y445H ETV5_uc003fpy.2_Missense_Mutation_p.Y487H NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 445 ETS. cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.Y445C(2) ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) ACAAATTTGTAGACGTATCGC 0.562 T TMPRSS2|SCL45A3 Prostate SST 6750 broad.mit.edu 37 3 187387016 187387016 + Missense_Mutation SNP G A A rs149673471 TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr3:187387016G>A uc003frn.2 - 2 310 c.188C>T c.(187-189)ACG>ATG p.T63M NM_001048 NP_001039 P61278 SMS_HUMAN somatostatin preproprotein 63 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity pancreas(1) 1 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) ATCATTCTCCGTCTGGTTGGG 0.517 ZNF718 255403 broad.mit.edu 37 4 155819 155819 + Missense_Mutation SNP T G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr4:155819T>G uc003fzt.3 + 8 1477 c.1344T>G c.(1342-1344)GAT>GAG p.D448E ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_3'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) ACACTGTAGATAAACCCTACA 0.353 FGFRL1 53834 broad.mit.edu 37 4 1018886 1018886 + Silent SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr4:1018886G>A uc003gce.2 + 7 1427 c.1266G>A c.(1264-1266)ACG>ACA p.T422T FGFRL1_uc003gcf.2_Silent_p.T422T|FGFRL1_uc003gcg.2_Silent_p.T422T|FGFRL1_uc010ibo.2_Silent_p.T422T NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 422 Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGCCGGGGACGGCCCGCGACC 0.731 TLR6 10333 broad.mit.edu 37 4 38829218 38829218 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr4:38829218C>T uc003gtm.2 - 1 1943 c.1877G>A c.(1876-1878)CGC>CAC p.R626H TLR6_uc010ifg.1_Missense_Mutation_p.R626H NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 626 Cytoplasmic (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 CCTGGCCCTGCGCCGAGTCTG 0.502 PITX2 5308 broad.mit.edu 37 4 111553638 111553638 + Splice_Site SNP T A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr4:111553638T>A uc003iad.2 - 3 629 c.47_splice c.e3-1 p.G16_splice PITX2_uc003iae.2_Intron|PITX2_uc010iml.2_Splice_Site|PITX2_uc003iaf.2_Splice_Site_p.G16_splice NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GCTGCACGCCTGGGCCACGCG 0.687 ANK2 287 broad.mit.edu 37 4 114251595 114251595 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr4:114251595G>A uc003ibe.3 + 27 3194 c.3094G>A c.(3094-3096)GAA>AAA p.E1032K ANK2_uc003ibd.3_Missense_Mutation_p.E1023K|ANK2_uc003ibf.3_Missense_Mutation_p.E1032K|ANK2_uc011cgc.1_Missense_Mutation_p.E241K|ANK2_uc003ibg.3_Missense_Mutation_p.E60K|ANK2_uc003ibc.2_Missense_Mutation_p.E1008K|ANK2_uc011cgb.1_Missense_Mutation_p.E1047K NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCGCCTGATCGAAGTTGGACC 0.532 GPM6A 2823 broad.mit.edu 37 4 176594942 176594942 + Missense_Mutation SNP G C C TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr4:176594942G>C uc003iuf.2 - 3 1080 c.276C>G c.(274-276)TTC>TTG p.F92L GPM6A_uc011ckj.1_Missense_Mutation_p.F85L|GPM6A_uc003iug.2_Missense_Mutation_p.F92L|GPM6A_uc003iuh.2_Missense_Mutation_p.F81L NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 92 Helical; (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CATACACAAAGAACGCAGCTG 0.418 DNAH5 1767 broad.mit.edu 37 5 13809274 13809274 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr5:13809274G>A uc003jfd.2 - 46 7673 c.7631C>T c.(7630-7632)ACG>ATG p.T2544M NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2544 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTGGGTACGCGTGTTCCAGTG 0.438 Kartagener_syndrome GRAMD3 65983 broad.mit.edu 37 5 125822670 125822670 + Splice_Site SNP G T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr5:125822670G>T uc003ktu.2 + 12 1593 c.1163_splice c.e12+1 p.E388_splice GRAMD3_uc011cwt.1_Splice_Site_p.E403_splice|GRAMD3_uc011cwv.1_Splice_Site_p.E396_splice|GRAMD3_uc011cww.1_Splice_Site_p.E284_splice|GRAMD3_uc011cwx.1_Splice_Site|GRAMD3_uc011cwy.1_Splice_Site_p.E279_splice|GRAMD3_uc011cwz.1_Splice_Site_p.E372_splice NM_023927 NP_076416 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 isoform 2 central_nervous_system(1) 1 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) ATAATACTGAGTAAGACGATT 0.403 ADAM19 8728 broad.mit.edu 37 5 156916128 156916128 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr5:156916128C>T uc003lwz.2 - 20 2371 c.2307G>A c.(2305-2307)ACG>ACA p.T769T ADAM19_uc003lww.1_Silent_p.T502T|ADAM19_uc003lwy.2_Silent_p.T368T|ADAM19_uc011ddr.1_Silent_p.T700T NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 769 Cytoplasmic (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCCCTGGGGCGTCTGCAGCT 0.453 IRF4 3662 broad.mit.edu 37 6 398917 398917 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:398917G>A uc003msz.3 + 6 840 c.727G>A c.(727-729)GAA>AAA p.E243K IRF4_uc010jne.1_Missense_Mutation_p.E243K|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.E242K|IRF4_uc003mtc.1_Missense_Mutation_p.E73K NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 243 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) AAGGTCTGCCGAAGCCTTGGC 0.592 T IGH@ MM F13A1 2162 broad.mit.edu 37 6 6225003 6225003 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:6225003C>T uc003mwv.2 - 7 1012 c.889G>A c.(889-891)GTT>ATT p.V297I F13A1_uc011dib.1_Missense_Mutation_p.V234I NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 297 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AGAATGTCAACGCTTCCAGTC 0.488 JARID2 3720 broad.mit.edu 37 6 15504806 15504806 + Missense_Mutation SNP G T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:15504806G>T uc003nbj.2 + 9 2768 c.2524G>T c.(2524-2526)GCC>TCC p.A842S JARID2_uc011div.1_Missense_Mutation_p.A670S|JARID2_uc011diw.1_Missense_Mutation_p.A804S NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 842 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CAAGGAGCCTGCCCCAGCCGA 0.522 KIF13A 63971 broad.mit.edu 37 6 17800257 17800257 + Missense_Mutation SNP T G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:17800257T>G uc003ncg.3 - 21 2647 c.2542A>C c.(2542-2544)AGT>CGT p.S848R KIF13A_uc003ncf.2_Missense_Mutation_p.S848R|KIF13A_uc003nch.3_Missense_Mutation_p.S848R|KIF13A_uc003nci.3_Missense_Mutation_p.S848R NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 848 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CCACTTTCACTGGAATTCTCC 0.537 ABCC10 89845 broad.mit.edu 37 6 43415637 43415637 + Silent SNP C T T rs144509707 TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:43415637C>T uc003ouy.1 + 18 4136 c.3921C>T c.(3919-3921)GAC>GAT p.D1307D ABCC10_uc003ouz.1_Silent_p.D1279D|ABCC10_uc010jyo.1_Silent_p.D413D NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1307 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGCTGCTGGACGGCGTGGACA 0.632 ENPP4 22875 broad.mit.edu 37 6 46111073 46111073 + Missense_Mutation SNP G C C TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:46111073G>C uc003oxy.2 + 4 1317 c.1058G>C c.(1057-1059)GGA>GCA p.G353A NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 353 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 GCTGCCCACGGACCTGCATTT 0.388 SYNJ2 8871 broad.mit.edu 37 6 158438287 158438287 + Missense_Mutation SNP C T T rs143362296 byFrequency TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:158438287C>T uc003qqx.1 + 2 254 c.179C>T c.(178-180)GCG>GTG p.A60V SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.A60V|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_5'Flank|SYNJ2_uc010kjo.1_5'Flank NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 60 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTCACGGACGCGTACGGCTGC 0.602 FNDC1 84624 broad.mit.edu 37 6 159653361 159653361 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:159653361C>T uc010kjv.2 + 11 2017 c.1817C>T c.(1816-1818)ACG>ATG p.T606M FNDC1_uc010kjw.1_Missense_Mutation_p.T491M NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 606 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TCCCTGGCCACGCAGCCCCGC 0.706 RPS6KA2 6196 broad.mit.edu 37 6 166844032 166844032 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:166844032C>T uc003qvb.1 - 16 1709 c.1490G>A c.(1489-1491)CGC>CAC p.R497H RPS6KA2_uc011ego.1_Missense_Mutation_p.R408H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R408H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R505H|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R522H NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 497 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CCGGAGGATGCGGTCCAGGAG 0.592 TTLL2 83887 broad.mit.edu 37 6 167754158 167754158 + Missense_Mutation SNP G A A rs34053826 TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr6:167754158G>A uc003qvs.1 + 3 858 c.770G>A c.(769-771)CGC>CAC p.R257H TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 257 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGTGATCTCCGCATCTATGTT 0.358 GPR141 353345 broad.mit.edu 37 7 37780661 37780661 + Nonsense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:37780661G>A uc003tfm.1 + 1 666 c.666G>A c.(664-666)TGG>TGA p.W222* uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 222 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 AGGAGTTCTGGGCTCAGCTGA 0.433 C7orf57 136288 broad.mit.edu 37 7 48092478 48092478 + Missense_Mutation SNP C A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:48092478C>A uc003toh.3 + 7 999 c.787C>A c.(787-789)CTC>ATC p.L263I C7orf57_uc003toi.3_Missense_Mutation_p.L121I NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 263 ovary(1) 1 TGCAGCCAGGCTCCAGGATGC 0.572 POM121 9883 broad.mit.edu 37 7 72413425 72413425 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:72413425G>A uc003twk.2 + 11 2893 c.2893G>A c.(2893-2895)GGA>AGA p.G965R POM121_uc003twj.2_Missense_Mutation_p.G700R|POM121_uc010lam.1_Missense_Mutation_p.G700R NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 965 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) ATCATATCCGGGAGCCAACCC 0.647 GNAT3 346562 broad.mit.edu 37 7 80088106 80088106 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:80088106C>T uc011kgu.1 - 8 946 c.946G>A c.(946-948)GAT>AAT p.D316N CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 316 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 ATTTCCTTATCTTCTTTTTTT 0.323 DLX6 1750 broad.mit.edu 37 7 96637111 96637111 + Missense_Mutation SNP C G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:96637111C>G uc003uom.2 + 3 514 c.514C>G c.(514-516)CTG>GTG p.L172V DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN distal-less homeobox 6 82 Homeobox. nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GAGAGCCGAACTGGCAGCTTC 0.532 SLC26A3 1811 broad.mit.edu 37 7 107434196 107434196 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:107434196C>T uc003ver.2 - 3 473 c.262G>A c.(262-264)GTA>ATA p.V88I SLC26A3_uc003ves.2_Missense_Mutation_p.V53I NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 88 Helical; (Potential). excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 ccttGTAGTACGGCCACAATC 0.254 ATP6V0A4 50617 broad.mit.edu 37 7 138432176 138432176 + Missense_Mutation SNP G T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:138432176G>T uc003vuf.2 - 12 1552 c.1314C>A c.(1312-1314)GAC>GAA p.D438E ATP6V0A4_uc003vug.2_Missense_Mutation_p.D438E|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.D438E NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 438 Lumenal (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 TCACCTCATTGTCTGTCTTCT 0.428 OR2A12 346525 broad.mit.edu 37 7 143792752 143792752 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:143792752C>T uc011kty.1 + 1 552 c.552C>T c.(550-552)TTC>TTT p.F184F NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) TGTCCGTATTCAAATTGGCCT 0.493 OR2A7 401427 broad.mit.edu 37 7 143956670 143956670 + Missense_Mutation SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr7:143956670C>T uc011kuc.1 - 1 52 c.52G>A c.(52-54)GTT>ATT p.V18I OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR NM_001005328 NP_001005328 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.14) CTTGGGCCAACGGGAAATCCC 0.498 CYP7A1 1581 broad.mit.edu 37 8 59409723 59409723 + Silent SNP C T T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr8:59409723C>T uc003xtm.3 - 3 411 c.348G>A c.(346-348)CCG>CCA p.P116P NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 116 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TTCCATCCATCGGGTCAATGC 0.418 Neonatal_Giant_Cell_Hepatitis TRPA1 8989 broad.mit.edu 37 8 72948586 72948586 + Missense_Mutation SNP T A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr8:72948586T>A uc003xza.2 - 21 2667 c.2492A>T c.(2491-2493)CAG>CTG p.Q831L uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 831 Helical; Name=4; (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ACATTGCCACTGCAGATGAGC 0.353 TMEM70 54968 broad.mit.edu 37 8 74888704 74888704 + Frame_Shift_Del DEL T - - TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr8:74888704delT uc003yab.2 + 1 275 c.188delT c.(187-189)CTCfs p.L63fs TMEM70_uc003yac.2_Frame_Shift_Del_p.L63fs NM_017866 NP_060336 Q9BUB7 TMM70_HUMAN transmembrane protein 70 isoform a 63 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane ovary(1) 1 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) GCGCGCCTTCTCCGGCGTCCG 0.766 ZNF623 9831 broad.mit.edu 37 8 144733275 144733275 + Silent SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr8:144733275G>A uc003yzd.2 + 1 1322 c.1233G>A c.(1231-1233)GCG>GCA p.A411A ZNF623_uc011lkp.1_Silent_p.A371A|ZNF623_uc003yzc.2_Silent_p.A371A NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 411 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 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;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GTGGGAAAGCGTTTCTCCAGA 0.478 KIAA0020 9933 broad.mit.edu 37 9 2829880 2829880 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr9:2829880G>A uc003zhp.1 - 8 842 c.746C>T c.(745-747)GCG>GTG p.A249V KIAA0020_uc010mhc.1_Missense_Mutation_p.A248V|KIAA0020_uc003zhq.1_Missense_Mutation_p.A248V NM_014878 NP_055693 Q15397 K0020_HUMAN KIAA0020 protein 249 Pumilio 3.|PUM-HD. endoplasmic reticulum|nucleolus RNA binding ovary(1) 1 GBM - Glioblastoma multiforme(50;0.0319) TGATGCTTCCGCATGCCGCAG 0.443 OR1L4 254973 broad.mit.edu 37 9 125486747 125486747 + Missense_Mutation SNP G A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chr9:125486747G>A uc004bmu.1 + 1 479 c.479G>A c.(478-480)CGC>CAC p.R160H NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCCTGTTCCGCGTGCTACTT 0.478 WNK3 65267 broad.mit.edu 37 X 54275317 54275317 + Missense_Mutation SNP C A A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chrX:54275317C>A uc004dtd.1 - 17 3903 c.3464G>T c.(3463-3465)TGT>TTT p.C1155F WNK3_uc004dtc.1_Missense_Mutation_p.C1155F NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1155 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TGTCACTGGACAGGAGAGGGT 0.458 SPIN3 169981 broad.mit.edu 37 X 57021377 57021377 + Missense_Mutation SNP T G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chrX:57021377T>G uc010nkj.2 - 2 290 c.4A>C c.(4-6)AAG>CAG p.K2Q SPIN3_uc004duu.3_RNA|SPIN3_uc004duw.3_RNA|SPIN3_uc004duv.3_RNA|SPIN3_uc004dux.1_Missense_Mutation_p.K2Q NM_001010862 NP_001010862 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 2 gamete generation ovary(1)|central_nervous_system(1) 2 AACGGGGTCTTCATGCCTGCG 0.537 TAF1 6872 broad.mit.edu 37 X 70680548 70680548 + Missense_Mutation SNP T G G TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 08014470-8cdc-4431-baee-a06009d4cf3a 939f2072-4045-46d3-a164-a6ea49da87b7 g.chrX:70680548T>G uc004dzu.3 + 37 5342 c.5291T>G c.(5290-5292)ATG>AGG p.M1764R BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.M1785R|TAF1_uc004dzv.3_Missense_Mutation_p.M972R|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.M189R|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1764 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) CAACCCCGCATGCTTCAGGAG 0.483