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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample SLC35E2 9906 broad.mit.edu 37 1 1669760 1669760 + Nonsense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:1669760C>A uc001aib.1 - 4 1002 c.586G>T c.(586-588)GGA>TGA p.G196* SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Missense_Mutation_p.G196W|SLC35E2_uc001ahy.2_Nonsense_Mutation_p.G196*|SLC35E2_uc001ahz.2_Nonsense_Mutation_p.G196* NM_182838 NP_878258 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 196 integral to membrane pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGGGCCTCACCTGTGTACTCC 0.647 NaN 1 0 0.000602214 0.014758 0.000630224 4 11 CAMTA1 23261 broad.mit.edu 37 1 7724195 7724195 + Nonsense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:7724195A>T uc001aoi.2 + 9 1795 c.1588A>T c.(1588-1590)AAG>TAG p.K530* NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGTCCTCACCAAGGAGATCAA 0.637 NaN 0 0 0 0.021553 0 5 59 EIF4G3 8672 broad.mit.edu 37 1 21221934 21221934 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:21221934T>C uc001bec.2 - 12 2148 c.1892A>G c.(1891-1893)GAC>GGC p.D631G EIF4G3_uc010odi.1_Missense_Mutation_p.D235G|EIF4G3_uc010odj.1_Missense_Mutation_p.D630G|EIF4G3_uc009vpz.2_Missense_Mutation_p.D351G|EIF4G3_uc001bed.2_Missense_Mutation_p.D631G|EIF4G3_uc001bef.2_Missense_Mutation_p.D630G|EIF4G3_uc001bee.2_Missense_Mutation_p.D637G NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 631 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GAACTGGAAGTCCAGCAGAAA 0.463 NaN 0 0 0 0.004482 0 7 72 EXTL1 2134 broad.mit.edu 37 1 26349162 26349162 + Missense_Mutation SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:26349162T>G uc001blf.2 + 1 892 c.25T>G c.(25-27)TCC>GCC p.S9A NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 9 Cytoplasmic (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GAGAAGAAAGTCCCTGTGGCT 0.667 NaN 0 0 0 0.009096 0 4 63 IQCC 55721 broad.mit.edu 37 1 32673403 32673403 + Nonsense_Mutation SNP T T A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:32673403T>A uc001bum.2 + 5 1168 c.1121T>A c.(1120-1122)TTG>TAG p.L374* IQCC_uc009vua.2_Nonsense_Mutation_p.L454*|IQCC_uc010ogz.1_Nonsense_Mutation_p.L274*|DCDC2B_uc001bun.2_5'Flank NM_018134 NP_060604 Q4KMZ1 IQCC_HUMAN IQ motif containing C isoform 2 374 ovary(4) 4 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACACAAGAGTTGGGCCTCTCA 0.532 NaN 0 0 0 0.016723 0 13 120 EIF3I 8668 broad.mit.edu 37 1 32690056 32690056 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:32690056G>C uc001bur.3 + 5 763 c.230G>C c.(229-231)CGT>CCT p.R77P C1orf91_uc001buo.3_5'Flank|C1orf91_uc001bup.3_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc010oha.1_5'Flank|C1orf91_uc001buq.3_5'Flank|EIF3I_uc009vuc.2_Missense_Mutation_p.R77P|EIF3I_uc001bus.2_Missense_Mutation_p.R29P NM_003757 NP_003748 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, 77 WD 2. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) AACAGCTGTCGTCTCTGGGAC 0.473 NaN 0 0 0 0.014758 0 4 50 MAP7D1 55700 broad.mit.edu 37 1 36636690 36636690 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:36636690G>T uc001bzz.2 + 2 381 c.165G>T c.(163-165)ATG>ATT p.M55I MAP7D1_uc001caa.2_Missense_Mutation_p.M55I|MAP7D1_uc001cab.2_Missense_Mutation_p.M55I|MAP7D1_uc001cac.2_5'Flank NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 55 Pro-rich. cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) CTCCTGCCATGAAGAATGCCA 0.652 NaN 1 0 2.74318e-10 0.006214 3.12514e-10 9 88 KTI12 112970 broad.mit.edu 37 1 52499087 52499087 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:52499087C>T uc001ctj.1 - 1 386 c.347G>A c.(346-348)GGA>GAA p.G116E TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 116 ATP binding central_nervous_system(2) 2 CACCTGAGGTCCCGCGATCGG 0.701 NaN 0 0 0 0.021553 0 5 65 SCP2 6342 broad.mit.edu 37 1 53504595 53504595 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:53504595G>A uc001cur.1 + 14 1466 c.1345G>A c.(1345-1347)GAA>AAA p.E449K SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.E368K|SCP2_uc010onp.1_Missense_Mutation_p.E425K|SCP2_uc009vzi.1_Missense_Mutation_p.E405K|SCP2_uc010onq.1_Missense_Mutation_p.E45K|SCP2_uc001cut.1_Missense_Mutation_p.E42K|SCP2_uc001cuu.1_Intron NM_002979 NP_002970 P22307 NLTP_HUMAN sterol carrier protein 2 isoform 1 proprotein 449 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1) 1 CCAGGAAGGGGAACAGTTTGT 0.423 NaN 0 0 0 0.010729 0 10 110 C1orf146 388649 broad.mit.edu 37 1 92709803 92709803 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:92709803G>A uc001doq.2 + 4 262 c.190G>A c.(190-192)GAA>AAA p.E64K C1orf146_uc010ote.1_Missense_Mutation_p.E5K NM_001012425 NP_001012425 Q5VVC0 CA146_HUMAN hypothetical protein LOC388649 64 ovary(1) 1 all_lung(203;0.00528)|Lung NSC(277;0.0193) all cancers(265;0.00846)|Epithelial(280;0.0952) GGATACTAAGGAATGTCTTCT 0.299 NaN 0 0 0 0.021553 0 6 42 NTNG1 22854 broad.mit.edu 37 1 107937933 107937933 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:107937933G>C uc001dvh.3 + 4 1763 c.1045G>C c.(1045-1047)GGC>CGC p.G349R NTNG1_uc001dvf.3_Missense_Mutation_p.G349R|NTNG1_uc010out.1_Missense_Mutation_p.G349R|NTNG1_uc001dvc.3_Missense_Mutation_p.G349R|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.R21T|NTNG1_uc001dvd.1_Missense_Mutation_p.G349R NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 349 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CATCCCCAAAGGCACTGCAAA 0.453 NaN 0 0 0 0.02938 0 6 94 STXBP3 6814 broad.mit.edu 37 1 109342863 109342863 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:109342863G>A uc001dvy.2 + 17 1546 c.1471G>A c.(1471-1473)GAT>AAT p.D491N STXBP3_uc001dvz.2_RNA NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 491 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TAATAGATTAGATTCAAAAGA 0.338 NaN 0 0 0 0.004482 0 9 42 MAGI3 260425 broad.mit.edu 37 1 114201796 114201796 + Silent SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:114201796G>C uc001edk.2 + 16 2905 c.2724G>C c.(2722-2724)GGG>GGC p.G908G MAGI3_uc001edh.3_Silent_p.G933G|MAGI3_uc001edi.3_Silent_p.G908G|MAGI3_uc010owm.1_Silent_p.G933G|MAGI3_uc001edj.2_Silent_p.G629G NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 933 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGTGAATGGGCAGTCCATTG 0.453 NaN 0 0 0 0.008291 0 11 93 SLC22A15 55356 broad.mit.edu 37 1 116569600 116569600 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:116569600A>G uc001egb.3 + 5 815 c.685A>G c.(685-687)ATT>GTT p.I229V SLC22A15_uc001ega.2_Missense_Mutation_p.I229V NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 229 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity large_intestine(2) 2 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GACCCTAGCCATTCTGGTTAA 0.433 NaN 0 0 0 0.00308 0 8 105 GATAD2B 57459 broad.mit.edu 37 1 153792155 153792155 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:153792155T>C uc001fdb.3 - 3 636 c.392A>G c.(391-393)AAT>AGT p.N131S NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 131 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGAAGCCTCATTGTCAGACAA 0.398 NaN 0 0 0 0.020292 0 13 90 ASH1L 55870 broad.mit.edu 37 1 155449667 155449667 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:155449667C>G uc009wqq.2 - 3 3474 c.2994G>C c.(2992-2994)TTG>TTC p.L998F ASH1L_uc001fkt.2_Missense_Mutation_p.L998F|ASH1L_uc009wqr.1_Missense_Mutation_p.L998F NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 998 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GAATCTGATTCAACAGTTTCT 0.313 NaN 0 0 0 0.014758 0 5 75 APOA1BP 128240 broad.mit.edu 37 1 156563828 156563828 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:156563828G>A uc001fph.2 + 6 858 c.819G>A c.(817-819)CTG>CTA p.L273L APOA1BP_uc001fpg.2_3'UTR|APOA1BP_uc001fpi.2_Missense_Mutation_p.E255K|APOA1BP_uc001fpj.2_Silent_p.L190L|APOA1BP_uc001fpk.2_Silent_p.L170L|APOA1BP_uc010php.1_Silent_p.L170L NM_144772 NP_658985 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein precursor 273 YjeF N-terminal. extracellular region protein binding central_nervous_system(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGTACCAGCTGAACCTGCCAC 0.547 NaN 0 0 0 0.008291 0 7 106 ARHGAP30 257106 broad.mit.edu 37 1 161018826 161018826 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:161018826T>C uc001fxl.2 - 12 2331 c.1985A>G c.(1984-1986)CAG>CGG p.Q662R ARHGAP30_uc001fxk.2_Missense_Mutation_p.Q662R|ARHGAP30_uc001fxm.2_Missense_Mutation_p.Q508R|ARHGAP30_uc009wtx.2_Missense_Mutation_p.Q335R|ARHGAP30_uc001fxn.1_Missense_Mutation_p.Q508R NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 662 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGGCTCAGCCTGCTTGTCCTC 0.617 NaN 0 0 0 0.024334 0 26 145 FMO4 2329 broad.mit.edu 37 1 171303803 171303803 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:171303803G>C uc001gho.2 + 8 1298 c.1081G>C c.(1081-1083)GAG>CAG p.E361Q NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 361 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTTAAACCTAGAGAGAGCGAC 0.403 NaN 0 0 0 0.008291 0 10 92 TPR 7175 broad.mit.edu 37 1 186329966 186329966 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:186329966C>G uc001grv.2 - 10 1327 c.1030G>C c.(1030-1032)GAG>CAG p.E344Q TPR_uc010pop.1_Missense_Mutation_p.E420Q NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 344 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CCTATTTTCTCAAGCATTTCT 0.348 NaN T NTRK1 papillary thyroid 0 0 0 0.004672 0 3 51 TPR 7175 broad.mit.edu 37 1 186330823 186330823 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:186330823C>G uc001grv.2 - 9 1186 c.889G>C c.(889-891)GAA>CAA p.E297Q TPR_uc010pop.1_Missense_Mutation_p.E373Q NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 297 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTCTTTGCTTCTGAGTCATCA 0.373 NaN T NTRK1 papillary thyroid 0 0 0 0.00308 0 7 78 MYBPH 4608 broad.mit.edu 37 1 203139485 203139485 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:203139485C>T uc001gzh.1 - 7 1086 c.1027G>A c.(1027-1029)GAA>AAA p.E343K FMOD_uc010pqi.1_Intron NM_004997 NP_004988 Q13203 MYBPH_HUMAN myosin binding protein H 343 Fibronectin type-III 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) CACAGGTTTTCTGAGAAGACC 0.597 NaN 0 0 0 0.004672 0 3 48 LAX1 54900 broad.mit.edu 37 1 203743363 203743363 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:203743363G>A uc001haa.2 + 5 1161 c.751G>A c.(751-753)GAC>AAC p.D251N LAX1_uc010pql.1_Missense_Mutation_p.D235N|LAX1_uc001hab.2_Missense_Mutation_p.D175N NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 251 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) AGGAGCTGAGGACAGTGATTC 0.488 NaN 0 0 0 0.021553 0 5 40 SLC26A9 115019 broad.mit.edu 37 1 205902176 205902177 + Missense_Mutation DNP CC CC AT TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:205902176_205902177CC>AT uc001hdq.2 - 3 275_276 c.161_162GG>AT c.(160-162)GGG>GAT p.G54D SLC26A9_uc001hdp.2_Missense_Mutation_p.G54D NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 54 Helical; (Potential). integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CAGGCAGCAGCCCAAACACCAC 0.55 NaN 0 0 0 0.004672 0 6 42 CABC1 56997 broad.mit.edu 37 1 227174193 227174193 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:227174193G>T uc001hqm.1 + 20 5118 c.1699G>T c.(1699-1701)GGG>TGG p.G567W CABC1_uc001hqn.1_Missense_Mutation_p.G567W|CABC1_uc009xeq.1_Missense_Mutation_p.G515W|CABC1_uc010pvq.1_Missense_Mutation_p.G288W|CABC1_uc010pvr.1_Missense_Mutation_p.G241W|CABC1_uc001hqo.1_Missense_Mutation_p.G288W|CABC1_uc009xer.1_Missense_Mutation_p.G83W NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 567 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) CCTCATCCTGGGGGAGGCCTT 0.587 NaN 1 0 0.000157383 0.00308 0.000167958 8 56 CDC42BPA 8476 broad.mit.edu 37 1 227227863 227227863 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:227227863C>G uc001hqr.2 - 23 4006 c.3063G>C c.(3061-3063)GTG>GTC p.V1021V CDC42BPA_uc001hqq.2_Silent_p.V320V|CDC42BPA_uc001hqs.2_Silent_p.V940V|CDC42BPA_uc009xes.2_Silent_p.V993V|CDC42BPA_uc010pvs.1_Silent_p.V1001V|CDC42BPA_uc001hqp.2_Silent_p.V177V|CDC42BPA_uc001hqu.1_Silent_p.V228V NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 1034 Phorbol-ester/DAG-type. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TTATTAAACCCACCATCAAGG 0.343 NaN 0 0 0 0.004482 0 8 58 LYST 1130 broad.mit.edu 37 1 235972029 235972029 + Nonsense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:235972029G>A uc001hxj.2 - 5 2264 c.2089C>T c.(2089-2091)CAG>TAG p.Q697* LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Nonsense_Mutation_p.Q697* NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 697 WD 1. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACAAAGTTCTGATAAGCCTTT 0.368 NaN Chediak-Higashi_syndrome 0 0 0 0.021553 0 6 52 RYR2 6262 broad.mit.edu 37 1 237756804 237756804 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:237756804G>A uc001hyl.1 + 33 4424 c.4304G>A c.(4303-4305)GGA>GAA p.G1435E NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1435 Cytoplasmic (By similarity).|B30.2/SPRY 3.|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) ATCTTTCCTGGACAAGAACCT 0.393 NaN 0 0 0 0.02938 0 6 49 AHCTF1 25909 broad.mit.edu 37 1 247053295 247053295 + Missense_Mutation SNP C C T rs140782802 byFrequency TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:247053295C>T uc001ibu.1 - 16 2124 c.2117G>A c.(2116-2118)CGT>CAT p.R706H AHCTF1_uc001ibv.1_Missense_Mutation_p.R715H|AHCTF1_uc009xgs.1_5'UTR NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 706 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTTCTGTCGACGACTGGTGTA 0.343 NaN 0 0 0 0.014323 0 21 113 C10orf18 54906 broad.mit.edu 37 10 5762896 5762896 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:5762896C>G uc001iij.2 + 6 734 c.109C>G c.(109-111)CTT>GTT p.L37V NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 37 ovary(1)|central_nervous_system(1) 2 TGATATAGCTCTTTGGTCCAC 0.333 NaN 0 0 0 0.008291 0 11 71 SEC61A2 55176 broad.mit.edu 37 10 12204226 12204226 + Silent SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:12204226G>T uc001ile.2 + 11 1329 c.1182G>T c.(1180-1182)CTG>CTT p.L394L SEC61A2_uc010qbq.1_Silent_p.L372L|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Silent_p.L394L NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Sec61 alpha form 2 isoform a 394 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 Renal(717;0.228) CTAAACAGCTGAAAGAACAGC 0.458 NaN 1 0 1.15088e-07 0.028581 1.29474e-07 14 193 ERCC6 2074 broad.mit.edu 37 10 50732248 50732248 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:50732248C>T uc001jhs.3 - 5 1382 c.1228G>A c.(1228-1230)GGC>AGC p.G410S PGBD3_uc001jht.2_5'UTR|PGBD3_uc009xoe.2_Missense_Mutation_p.G410S|PGBD3_uc001jhu.2_Missense_Mutation_p.G410S NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 410 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 CGTTTCCCGCCCTTGGGCAGA 0.393 NaN Direct_reversal_of_damage|NER 0 0 0 0.004672 0 3 69 ARID5B 84159 broad.mit.edu 37 10 63829550 63829550 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:63829550A>G uc001jlt.1 + 8 1219 c.1193A>G c.(1192-1194)TAT>TGT p.Y398C ARID5B_uc001jlu.1_Missense_Mutation_p.Y155C NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 398 ARID. liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) CGCAGACATTATGAAAGGTAA 0.418 NaN 0 0 0 0.014758 0 4 31 ACTA2 59 broad.mit.edu 37 10 90701132 90701132 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:90701132G>A uc001kfp.2 - 6 586 c.470C>T c.(469-471)TCT>TTT p.S157F STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.S112F|ACTA2_uc001kfq.2_Missense_Mutation_p.S157F NM_001613 NP_001604 P62736 ACTA_HUMAN alpha 2 actin 157 response to virus cytosol ATP binding 0 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) ACCATCTCCAGAGTCCAGCAC 0.562 NaN 0 0 0 0.014758 0 4 50 PDCD11 22984 broad.mit.edu 37 10 105182763 105182763 + Missense_Mutation SNP C C T rs142899352 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:105182763C>T uc001kwy.1 + 18 2603 c.2516C>T c.(2515-2517)ACG>ATG p.T839M NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 839 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTGATCCAGACGCTGGCCGAG 0.527 NaN 0 0 0 0.009096 0 3 49 C10orf79 80217 broad.mit.edu 37 10 105953694 105953694 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:105953694C>T uc001kxw.2 - 11 1488 c.1372G>A c.(1372-1374)GTA>ATA p.V458I C10orf79_uc001kxx.3_Missense_Mutation_p.V459I|C10orf79_uc001kxy.1_Missense_Mutation_p.V459I NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 458 WD 7. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TTATCATATACGCTGATGAAG 0.552 NaN 0 0 0 0.008291 0 11 58 SORCS3 22986 broad.mit.edu 37 10 106982877 106982877 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:106982877C>A uc001kyi.1 + 20 2965 c.2738C>A c.(2737-2739)CCT>CAT p.P913H SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 913 PKD.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCCTTAGGTCCTGTGGAGCAT 0.428 NaN 1 0 7.48243e-07 0.006214 8.31381e-07 10 83 ATRNL1 26033 broad.mit.edu 37 10 117704277 117704277 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:117704277G>A uc001lcg.2 + 29 4513 c.4127G>A c.(4126-4128)GGA>GAA p.G1376E ATRNL1_uc010qsm.1_Missense_Mutation_p.G505E|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1376 Cytoplasmic (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ACACGTCAAGGAACTTGTGTC 0.413 NaN 0 0 0 0.024245 0 14 91 INPP5F 22876 broad.mit.edu 37 10 121563770 121563770 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:121563770C>T uc001leo.2 + 10 1368 c.1202C>T c.(1201-1203)TCA>TTA p.S401L NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 401 SAC. phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TTCAACAACTCACACCTCACT 0.418 NaN 0 0 0 0.008291 0 10 108 DUSP8 1850 broad.mit.edu 37 11 1579411 1579411 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:1579411G>A uc001lts.2 - 5 756 c.628C>T c.(628-630)CGG>TGG p.R210W NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 210 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) ATGGGGACCCGCATGAAGCGG 0.582 NaN 0 0 0 0.009096 0 4 104 TNNI2 7136 broad.mit.edu 37 11 1861878 1861878 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:1861878G>A uc010qxe.1 + 3 200 c.178G>A c.(178-180)GAA>AAA p.E60K TNNI2_uc010qxc.1_Missense_Mutation_p.E58K|TNNI2_uc010qxd.1_Missense_Mutation_p.E58K NM_001145841 NP_001139313 P48788 TNNI2_HUMAN fast-twitch skeletal muscle troponin I isoform 60 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding 0 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTCCATGTCTGAAGTGCAGGT 0.667 NaN 0 0 0 0.014758 0 4 32 OR51S1 119692 broad.mit.edu 37 11 4869937 4869937 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:4869937G>A uc010qyo.1 - 1 502 c.502C>T c.(502-504)CCA>TCA p.P168S NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 168 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCAGGAATGGCAGGGGCAGA 0.552 NaN 0 0 0 0.02938 0 5 92 SMPD1 6609 broad.mit.edu 37 11 6415196 6415196 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:6415196G>A uc001mcw.2 + 5 1585 c.1411G>A c.(1411-1413)GAA>AAA p.E471K SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.E427K|SMPD1_uc009yew.2_Missense_Mutation_p.E470K NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 469 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CTTCTATGATGAAGAGACTCT 0.527 NaN 0 0 0 0.02938 0 7 65 EIF4G2 1982 broad.mit.edu 37 11 10821761 10821761 + Silent SNP T T C rs140144694 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:10821761T>C uc001mjc.2 - 18 2412 c.1995A>G c.(1993-1995)CTA>CTG p.L665L EIF4G2_uc001mjb.2_Silent_p.L459L|EIF4G2_uc009ygf.2_Silent_p.L459L|EIF4G2_uc001mjd.2_Silent_p.L627L NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 665 MI. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TGCCACTTTCTAGTGGTTGAG 0.423 NaN 0 0 0 0.008291 0 11 49 MICAL2 9645 broad.mit.edu 37 11 12265655 12265655 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:12265655G>A uc001mjz.2 + 21 3068 c.2780G>A c.(2779-2781)AGA>AAA p.R927K MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.R927K|MICAL2_uc010rci.1_Missense_Mutation_p.R927K|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 927 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) TCTCCTGCCAGAAAGGTAGTT 0.502 NaN 0 0 0 0.0333 0 14 187 ABCC8 6833 broad.mit.edu 37 11 17474774 17474774 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:17474774G>A uc001mnc.2 - 7 1194 c.1068C>T c.(1066-1068)TAC>TAT p.Y356Y ABCC8_uc010rcy.1_Silent_p.Y355Y NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 356 Helical; Name=7; (By similarity).|ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CAGCTAAGACGTAGGCATTGG 0.458 NaN 0 0 0 0.014758 0 4 70 LMO2 4005 broad.mit.edu 37 11 33886306 33886306 + Nonsense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:33886306G>T uc001mve.2 - 2 538 c.99C>A c.(97-99)TGC>TGA p.C33* LMO2_uc001mvc.2_Nonsense_Mutation_p.C26*|LMO2_uc001mvd.2_Nonsense_Mutation_p.C26*|LMO2_uc010rel.1_Nonsense_Mutation_p.C33*|LMO2_uc010rem.1_Nonsense_Mutation_p.C102* NM_001142316 NP_001135788 P25791 RBTN2_HUMAN LIM domain only 2 isoform 2 33 LIM zinc-binding 1. multicellular organismal development nucleus protein binding|zinc ion binding lung(1) 1 TGTTCTGCTGGCAGCCGCCGC 0.627 NaN T TRD@ T-ALL 1 0 5.9392e-07 0.021553 6.62638e-07 6 48 TM7SF2 7108 broad.mit.edu 37 11 64883439 64883439 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:64883439G>C uc001oct.2 + 10 1318 c.1171G>C c.(1171-1173)GAG>CAG p.E391Q TM7SF2_uc010rny.1_Missense_Mutation_p.E275Q|TM7SF2_uc001ocu.2_Missense_Mutation_p.E364Q|TM7SF2_uc001ocv.2_Missense_Mutation_p.E412Q|uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 391 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 GGCCCGGGATGAGCGGCAGTG 0.622 NaN 0 0 0 0.009096 0 4 36 MOGAT2 80168 broad.mit.edu 37 11 75439097 75439097 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:75439097G>A uc010rru.1 + 4 558 c.558G>A c.(556-558)GGG>GGA p.G186G MOGAT2_uc001oww.1_Silent_p.G186G|MOGAT2_uc010rrv.1_Silent_p.G104G NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 186 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) TCATTGTAGGGGGTGCCCAGG 0.562 NaN 0 0 0 0.004672 0 3 38 PCF11 51585 broad.mit.edu 37 11 82877725 82877725 + Silent SNP A A C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:82877725A>C uc001ozx.3 + 5 2131 c.1786A>C c.(1786-1788)AGA>CGA p.R596R PCF11_uc010rsu.1_Silent_p.R596R NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 596 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GTCTGCCAAAAGATGGAAATC 0.348 NaN 0 0 0 0.014758 0 4 75 FAT3 120114 broad.mit.edu 37 11 92087450 92087450 + Nonsense_Mutation SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:92087450T>G uc001pdj.3 + 1 2189 c.2172T>G c.(2170-2172)TAT>TAG p.Y724* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 724 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGGACCATATTTTGACAAGT 0.403 NaN TCGA Ovarian(4;0.039) 0 0 0 0.010504 0 18 155 CCDC67 159989 broad.mit.edu 37 11 93103298 93103298 + Silent SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:93103298G>C uc001pdq.2 + 6 592 c.492G>C c.(490-492)CTG>CTC p.L164L CCDC67_uc001pdo.1_Silent_p.L164L|CCDC67_uc001pdp.2_Silent_p.L164L NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 164 Potential. ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AGACTCATCTGATTTCTTTAG 0.289 NaN 0 0 0 0.014758 0 5 14 CASP5 838 broad.mit.edu 37 11 104868181 104868181 + Missense_Mutation SNP A A C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:104868181A>C uc010rva.1 - 8 1167 c.1135T>G c.(1135-1137)TTC>GTC p.F379V CASP5_uc010ruz.1_Missense_Mutation_p.F392V|CASP5_uc010rvb.1_Missense_Mutation_p.F321V|CASP5_uc010rvc.1_Missense_Mutation_p.F237V|CASP5_uc009yxh.2_Missense_Mutation_p.F161V|CASP5_uc010rvd.1_Missense_Mutation_p.F161V NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 379 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TCCGTAATGAAGATGGAGCCC 0.408 NaN 0 0 0 0.02938 0 6 39 ARCN1 372 broad.mit.edu 37 11 118452000 118452000 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:118452000G>A uc001ptq.2 + 2 204 c.43G>A c.(43-45)GCT>ACT p.A15T ARCN1_uc009zah.2_Missense_Mutation_p.A15T|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Missense_Mutation_p.A56T NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 15 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AGCAGGAAAGGCTATTGTTTC 0.428 NaN 0 0 0 0.020292 0 12 109 IGSF9B 22997 broad.mit.edu 37 11 133794727 133794727 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:133794727C>T uc001qgx.3 - 15 2338 c.2107G>A c.(2107-2109)GTC>ATC p.V703I IGSF9B_uc001qgy.1_Missense_Mutation_p.V545I NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 703 Fibronectin type-III 2.|Extracellular (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GTGCTGGAGACGCCGGCGATG 0.562 NaN 0 0 0 0.014758 0 4 94 SCNN1A 6337 broad.mit.edu 37 12 6483849 6483849 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:6483849T>C uc001qnx.2 - 2 390 c.101A>G c.(100-102)GAA>GGA p.E34G SCNN1A_uc001qnw.2_Missense_Mutation_p.E93G|SCNN1A_uc010sfb.1_Missense_Mutation_p.E57G|LTBR_uc010sfc.1_5'Flank NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 34 Cytoplasmic (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) CGCCGCAGGTTCGGGGCCCAG 0.642 NaN 0 0 0 0.004672 0 3 34 CLEC1B 51266 broad.mit.edu 37 12 10149501 10149501 + Nonsense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:10149501G>A uc001qwu.2 - 4 582 c.382C>T c.(382-384)CAG>TAG p.Q128* CLEC1B_uc009zhd.2_Nonsense_Mutation_p.Q95* NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 128 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 GTGCAGTACTGCTTACTCTCT 0.423 NaN 0 0 0 0.021553 0 6 127 ETV6 2120 broad.mit.edu 37 12 12037408 12037408 + Nonsense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:12037408C>T uc001qzz.2 + 6 1313 c.1039C>T c.(1039-1041)CAG>TAG p.Q347* ETV6_uc001raa.1_Intron NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 347 ETS. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) TTACGTCTATCAGTTGCTTTC 0.443 NaN T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 0 0 0 0.028581 0 14 136 AMN1 196394 broad.mit.edu 37 12 31850769 31850769 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:31850769C>T uc001rkq.3 - 4 605 c.439G>A c.(439-441)GAT>AAT p.D147N AMN1_uc001rko.3_Missense_Mutation_p.D129N|AMN1_uc010skc.1_Missense_Mutation_p.D129N|AMN1_uc001rkp.3_Missense_Mutation_p.D129N|AMN1_uc009zjs.2_RNA|AMN1_uc009zjt.1_RNA NM_001113402 NP_001106873 Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog 147 0 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) CCACCTAAATCGATGATCTTT 0.418 NaN 0 0 0 0.009096 0 4 75 AMIGO2 347902 broad.mit.edu 37 12 47472350 47472350 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:47472350G>T uc001rpm.2 - 3 1091 c.436C>A c.(436-438)CTT>ATT p.L146I FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.L146I|AMIGO2_uc001rpl.2_Missense_Mutation_p.L146I NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 146 Extracellular (Potential).|LRR 4. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) TAAAGCAGAAGCACTTCCAGA 0.408 NaN 1 0 5.18039e-06 0.00308 5.6858e-06 8 107 ACCN2 41 broad.mit.edu 37 12 50453726 50453726 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:50453726G>A uc001rvw.2 + 3 776 c.547G>A c.(547-549)GAC>AAC p.D183N ACCN2_uc001rvv.2_Missense_Mutation_p.D183N|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.D183N NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 183 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) CAGCGCTGAAGACTTCAAGGT 0.617 NaN 0 0 0 0.014758 0 5 39 SLC4A8 9498 broad.mit.edu 37 12 51890800 51890800 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:51890800C>G uc001rys.1 + 22 3151 c.2973C>G c.(2971-2973)GTC>GTG p.V991V SLC4A8_uc001rym.2_Silent_p.V938V|SLC4A8_uc001ryn.2_Silent_p.V938V|SLC4A8_uc001ryo.2_Silent_p.V938V|SLC4A8_uc010snj.1_Silent_p.V1018V|SLC4A8_uc001ryr.2_Silent_p.V991V NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 991 Cytoplasmic (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) TCAGGAAAGTCATGGATCTCT 0.398 NaN 0 0 0 0.021553 0 5 75 RARG 5916 broad.mit.edu 37 12 53607445 53607445 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:53607445T>C uc001sce.2 - 8 1338 c.853A>G c.(853-855)ACC>GCC p.T285A RARG_uc001scd.2_Missense_Mutation_p.T274A|RARG_uc010sob.1_Missense_Mutation_p.T263A|RARG_uc001scf.2_Missense_Mutation_p.T285A|RARG_uc001scg.2_Missense_Mutation_p.T213A|RARG_uc010soc.1_Missense_Mutation_p.T164A|RARG_uc010sod.1_Missense_Mutation_p.T322A NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 285 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AAGGTCATGGTGTCCTGCTCT 0.597 NaN OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 57 ZNF385A 25946 broad.mit.edu 37 12 54765456 54765456 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:54765456C>T uc001sfw.1 - 4 588 c.405G>A c.(403-405)GAG>GAA p.E135E ZNF385A_uc001sfv.1_Silent_p.E116E|ZNF385A_uc009zno.1_Intron|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Silent_p.E135E|ZNF385A_uc001sfy.3_Silent_p.E155E|ZNF385A_uc001sfz.3_Intron NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 CAGGCTGTTTCTCTGGGGATC 0.602 NaN 0 0 0 0.020292 0 13 63 RNF41 10193 broad.mit.edu 37 12 56600547 56600547 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:56600547C>T uc001skf.1 - 7 1007 c.638G>A c.(637-639)CGC>CAC p.R213H RNF41_uc001ske.1_Missense_Mutation_p.R142H|RNF41_uc001skg.1_Missense_Mutation_p.R213H|RNF41_uc010sqg.1_Missense_Mutation_p.R148H|RNF41_uc010sqh.1_Missense_Mutation_p.R142H NM_005785 NP_005776 Q9H4P4 RNF41_HUMAN ring finger protein 41 isoform 1 213 apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 CCCTCCCCAGCGGGTCACTCT 0.537 NaN OREG0021921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 31 LGR5 8549 broad.mit.edu 37 12 71977788 71977788 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:71977788G>A uc001swl.2 + 18 2046 c.1998G>A c.(1996-1998)GTG>GTA p.V666V LGR5_uc001swm.2_Silent_p.V642V|LGR5_uc001swn.1_Intron NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 666 Cytoplasmic (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 GGTTCTCTGTGAAATATTCTG 0.463 NaN 0 0 0 0.016723 0 13 142 TRHDE 29953 broad.mit.edu 37 12 73046177 73046177 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:73046177A>G uc001sxa.2 + 16 2646 c.2616A>G c.(2614-2616)ATA>ATG p.I872M NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 872 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GGGAATTCATATGGATGAAAT 0.398 NaN 0 0 0 0.021553 0 6 74 HSP90B1 7184 broad.mit.edu 37 12 104336352 104336352 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:104336352G>A uc001tkb.1 + 12 1527 c.1422G>A c.(1420-1422)AAG>AAA p.K474K HSP90B1_uc010swg.1_Silent_p.K139K|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 474 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) TGATCAAGAAGATTGCTGATG 0.363 NaN 0 0 0 0.009096 0 4 54 HSP90B1 7184 broad.mit.edu 37 12 104336359 104336359 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:104336359G>T uc001tkb.1 + 12 1534 c.1429G>T c.(1429-1431)GAT>TAT p.D477Y HSP90B1_uc010swg.1_Missense_Mutation_p.D142Y|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 477 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) GAAGATTGCTGATGATAAATA 0.363 NaN 1 0 0.00909568 0.009096 0.00944551 4 59 HSP90B1 7184 broad.mit.edu 37 12 104336567 104336567 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:104336567G>C uc001tkb.1 + 12 1742 c.1637G>C c.(1636-1638)AGA>ACA p.R546T HSP90B1_uc010swg.1_Missense_Mutation_p.R211T|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 546 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) GGGTCCAGCAGAAAAGAGGTG 0.418 NaN 0 0 0 0.021553 0 6 71 CIT 11113 broad.mit.edu 37 12 120159203 120159203 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:120159203G>A uc001txi.1 - 28 3570 c.3517C>T c.(3517-3519)CTG>TTG p.L1173L CIT_uc001txh.1_Silent_p.L707L|CIT_uc001txj.1_Silent_p.L1215L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1173 Potential.|Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCTTGAGTCAGACGGAAAATG 0.468 NaN 0 0 0 0.010729 0 11 62 GLT1D1 144423 broad.mit.edu 37 12 129373237 129373237 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:129373237G>A uc010tbh.1 + 3 247 c.238G>A c.(238-240)GCC>ACC p.A80T GLT1D1_uc001uhx.1_Missense_Mutation_p.A91T|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 91 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) AAATGAAGATGCCAACCAGGC 0.438 NaN 0 0 0 0.009096 0 4 23 GOLGA3 2802 broad.mit.edu 37 12 133374950 133374950 + Silent SNP G G T rs139706790 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:133374950G>T uc001ukz.1 - 9 2473 c.1914C>A c.(1912-1914)ATC>ATA p.I638I GOLGA3_uc001ula.1_Silent_p.I638I|GOLGA3_uc001ulb.2_Silent_p.I638I NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 638 Gln-rich.|Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGTGCCGCGATGCGCCCCT 0.587 NaN 1 0 8.12818e-05 0.02938 8.77844e-05 7 87 TNFRSF19 55504 broad.mit.edu 37 13 24243107 24243107 + Silent SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr13:24243107T>C uc001uov.1 + 9 1180 c.1116T>C c.(1114-1116)GCT>GCC p.A372A TNFRSF19_uc001uot.2_Silent_p.A372A|TNFRSF19_uc010tcu.1_Silent_p.A240A|TNFRSF19_uc001uow.2_Silent_p.A372A NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 372 Cytoplasmic (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TTACAGCAGCTACTGATTTAT 0.428 NaN 0 0 0 0.004672 0 3 86 FAM123A 219287 broad.mit.edu 37 13 25744014 25744014 + Missense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr13:25744014A>T uc001uqb.2 - 1 1844 c.1744T>A c.(1744-1746)TCC>ACC p.S582T FAM123A_uc001uqa.2_Missense_Mutation_p.S463T|FAM123A_uc001uqc.2_Missense_Mutation_p.S463T NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 582 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TTTAACCGGGACAGGGAGGAC 0.567 NaN 0 0 0 0.021553 0 3 70 KIAA0564 23078 broad.mit.edu 37 13 42385394 42385394 + Missense_Mutation SNP A A C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr13:42385394A>C uc001uyj.2 - 17 2100 c.2030T>G c.(2029-2031)CTT>CGT p.L677R KIAA0564_uc001uyk.2_Missense_Mutation_p.L677R NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 677 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) AGCACTGTGAAGATTTTCATT 0.383 NaN 0 0 0 0.02938 0 6 53 NID2 22795 broad.mit.edu 37 14 52481073 52481073 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:52481073T>C uc001wzo.2 - 16 3586 c.3352A>G c.(3352-3354)ATT>GTT p.I1118V NID2_uc010tqs.1_Missense_Mutation_p.I1070V|NID2_uc010tqt.1_Missense_Mutation_p.I1118V|NID2_uc001wzp.2_Missense_Mutation_p.I1118V NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1118 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) AAGTAGCCAATCTGCTGGCCC 0.592 NaN OREG0022678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 10 40 LTBP2 4053 broad.mit.edu 37 14 74973930 74973930 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:74973930G>C uc001xqa.2 - 26 4246 c.3859C>G c.(3859-3861)CTG>GTG p.L1287V NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1287 EGF-like 14; calcium-binding (Potential).|Cys-rich. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGGCAGCCCAGAACACAGCGG 0.567 NaN 0 0 0 0.00308 0 6 57 BDKRB1 623 broad.mit.edu 37 14 96730151 96730151 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:96730151C>G uc001yfh.2 + 3 340 c.132C>G c.(130-132)ATC>ATG p.I44M BDKRB1_uc010avn.2_Missense_Mutation_p.I44M NM_000710 NP_000701 P46663 BKRB1_HUMAN bradykinin receptor B1 44 Helical; Name=1; (Potential). elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity ovary(3) 3 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) CAACATTTATCATCTCCATCT 0.542 NaN 0 0 0 0.009096 0 4 51 AHNAK2 113146 broad.mit.edu 37 14 105408255 105408255 + Silent SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:105408255G>T uc010axc.1 - 7 13653 c.13533C>A c.(13531-13533)CTC>CTA p.L4511L AHNAK2_uc001ypx.2_Silent_p.L4411L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4511 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTGAATGCGGAGGTCAGTGG 0.622 NaN 1 0 1.33986e-20 0.024334 1.546e-20 27 154 AHNAK2 113146 broad.mit.edu 37 14 105408514 105408514 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:105408514G>A uc010axc.1 - 7 13394 c.13274C>T c.(13273-13275)TCT>TTT p.S4425F AHNAK2_uc001ypx.2_Missense_Mutation_p.S4325F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4425 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTGGGCAGAGACACGTCCAG 0.622 NaN 0 0 0 0.028581 0 14 145 CORO2B 10391 broad.mit.edu 37 15 68937670 68937671 + Missense_Mutation DNP GG GG AT TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:68937670_68937671GG>AT uc002arj.3 + 2 216_217 c.187_188GG>AT c.(187-189)GGC>ATC p.G63I CORO2B_uc010bic.2_Missense_Mutation_p.G58I NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 63 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 CGCAGGGGGCGGCTCCTTCCTC 0.624 NaN 0 0 0 0.004672 0 4 68 TSPAN3 10099 broad.mit.edu 37 15 77345133 77345133 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:77345133C>A uc002bcj.2 - 5 788 c.571G>T c.(571-573)GAC>TAC p.D191Y TSPAN3_uc002bck.2_Missense_Mutation_p.D166Y|TSPAN3_uc010ump.1_Missense_Mutation_p.D127Y|TSPAN3_uc010bkx.2_Missense_Mutation_p.D102Y NM_005724 NP_005715 O60637 TSN3_HUMAN transmembrane 4 superfamily member 8 isoform 1 191 Extracellular (Potential). integral to membrane 0 all cancers(203;1.14e-19) GCATAGAGGTCGGAAGGGTGG 0.478 NaN 1 0 3.59834e-05 0.021553 3.90181e-05 5 25 SGK269 79834 broad.mit.edu 37 15 77472430 77472430 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:77472430C>T uc002bcm.2 - 3 2147 c.1839G>A c.(1837-1839)GAG>GAA p.E613E SGK269_uc002bcn.2_Silent_p.E613E NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 613 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) CATAAGTTGGCTCGTCATGAA 0.348 NaN 0 0 0 0.016723 0 11 142 TMC3 342125 broad.mit.edu 37 15 81625521 81625521 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:81625521C>T uc002bgo.1 - 22 2542 c.2542G>A c.(2542-2544)GAA>AAA p.E848K TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 848 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 TGTACATCTTCGATGTGCGTT 0.527 NaN 0 0 0 0.004482 0 9 93 DET1 55070 broad.mit.edu 37 15 89074506 89074506 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:89074506C>A uc002bmr.2 - 2 583 c.431G>T c.(430-432)TGT>TTT p.C144F DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.C155F NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 144 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GAAGAGACTACACTCCCGGTT 0.537 NaN 1 0 0.000602214 0.014758 0.000630224 5 25 NR2F2 7026 broad.mit.edu 37 15 96880592 96880592 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:96880592C>T uc010uri.1 + 3 2210 c.986C>T c.(985-987)TCT>TTT p.S329F NR2F2_uc002btp.2_Missense_Mutation_p.S196F|NR2F2_uc010urj.1_Missense_Mutation_p.S176F|NR2F2_uc010urk.1_Missense_Mutation_p.S176F NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 329 Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) TGTGGTCTCTCTGATGTAGCC 0.353 NaN 0 0 0 0.021553 0 6 66 ZNF263 10127 broad.mit.edu 37 16 3339743 3339743 + Nonsense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:3339743G>T uc002cuq.2 + 6 1569 c.1237G>T c.(1237-1239)GAA>TAA p.E413* ZNF263_uc010uww.1_Nonsense_Mutation_p.E61*|ZNF263_uc002cur.2_Nonsense_Mutation_p.E61* NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 413 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 GGACTGCACTGAAATCTTTGG 0.473 NaN 1 0 3.09899e-07 0.004482 3.47189e-07 9 91 CREBBP 1387 broad.mit.edu 37 16 3817750 3817750 + Nonsense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:3817750G>C uc002cvv.2 - 16 3425 c.3221C>G c.(3220-3222)TCA>TGA p.S1074* CREBBP_uc002cvw.2_Nonsense_Mutation_p.S1036* NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1074 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGGAGATGTTGACTGAGAGGC 0.428 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.013537 0 11 138 CORO7 79585 broad.mit.edu 37 16 4466517 4466517 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:4466517C>T uc002cwh.3 - 1 123 c.3G>A c.(1-3)ATG>ATA p.M1I CORO7_uc002cwf.2_Missense_Mutation_p.M1I|CORO7_uc002cwg.3_5'Flank|CORO7_uc010uxh.1_Missense_Mutation_p.M1I|CORO7_uc010uxi.1_Missense_Mutation_p.M1I|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_RNA NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 1 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 TGAAGCGGTTCATGGCGACGG 0.756 NaN 0 0 0 0.009096 0 4 23 SMG1 23049 broad.mit.edu 37 16 18859259 18859259 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:18859259G>A uc002dfm.2 - 37 6083 c.5720C>T c.(5719-5721)TCT>TTT p.S1907F SMG1_uc010bwb.2_Missense_Mutation_p.S1767F|SMG1_uc010bwa.2_Missense_Mutation_p.S638F|SMG1_uc002dfo.3_Missense_Mutation_p.S205F NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1907 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 GCTATCCTGAGATGCAGGAGG 0.398 NaN 0 0 0 0.016723 0 13 63 DNAH3 55567 broad.mit.edu 37 16 20997001 20997001 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:20997001C>G uc010vbe.1 - 48 7063 c.7063G>C c.(7063-7065)GAT>CAT p.D2355H DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2355 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ATGTTATCATCGACTATCTTT 0.458 NaN 0 0 0 0.010729 0 11 108 THAP11 57215 broad.mit.edu 37 16 67876802 67876802 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:67876802G>A uc002euo.2 + 1 590 c.345G>A c.(343-345)CAG>CAA p.Q115Q CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 115 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) agcaacagcagcaacagcagc 0.303 NaN 0 0 0 0.004672 0 3 64 SLC12A4 6560 broad.mit.edu 37 16 67979985 67979985 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:67979985C>G uc002euz.2 - 20 2749 c.2608G>C c.(2608-2610)GTC>CTC p.V870L LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.V864L|SLC12A4_uc010vkh.1_Missense_Mutation_p.V839L|SLC12A4_uc010vki.1_Missense_Mutation_p.V870L|SLC12A4_uc010vkj.1_Missense_Mutation_p.V872L|SLC12A4_uc002eva.2_Missense_Mutation_p.V870L|SLC12A4_uc010cev.1_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 870 Cytoplasmic (Potential). cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TTCCTCCAGACCTGAGGCAAG 0.592 NaN 0 0 0 0.004672 0 3 39 ZFHX3 463 broad.mit.edu 37 16 72992721 72992721 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:72992721C>T uc002fck.2 - 2 1997 c.1324G>A c.(1324-1326)GAG>AAG p.E442K ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 442 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) TCCTGCTTCTCTCCTTCTGCC 0.463 NaN 0 0 0 0.028581 0 13 111 FAM57A 79850 broad.mit.edu 37 17 641131 641131 + Missense_Mutation SNP G G A rs143392294 byFrequency TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:641131G>A uc002frp.2 + 3 293 c.252G>A c.(250-252)ATG>ATA p.M84I FAM57A_uc002frq.2_Missense_Mutation_p.M84I|FAM57A_uc002frr.2_5'UTR NM_024792 NP_079068 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 84 TLC.|Helical; (Potential). integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) TTCCATACATGATCTATGACT 0.483 NaN 0 0 0 0.020292 0 14 155 ZZEF1 23140 broad.mit.edu 37 17 4015972 4015972 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:4015972C>G uc002fxe.2 - 5 1061 c.997G>C c.(997-999)GAT>CAT p.D333H ZZEF1_uc002fxk.1_Missense_Mutation_p.D333H NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 333 DOC. calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 ATGTGCACATCTCGGACTTCC 0.542 NaN 0 0 0 0.009096 0 4 34 C17orf81 23587 broad.mit.edu 37 17 7162203 7162203 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:7162203C>T uc002gfg.1 + 8 901 c.794C>T c.(793-795)GCC>GTC p.A265V C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.A265V|C17orf81_uc002gfi.1_Missense_Mutation_p.A265V|C17orf81_uc002gfl.1_Intron NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 GAGAGAGAAGCCAGAGATAGC 0.517 NaN 0 0 0 0.008291 0 10 55 TP53 7157 broad.mit.edu 37 17 7577103 7577103 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:7577103C>G uc002gim.2 - 8 1029 c.835G>C c.(835-837)GGG>CGG p.G279R TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G279R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G147R|TP53_uc010cng.1_Missense_Mutation_p.G147R|TP53_uc002gii.1_Missense_Mutation_p.G147R|TP53_uc010cnh.1_Missense_Mutation_p.G279R|TP53_uc010cni.1_Missense_Mutation_p.G279R|TP53_uc002gij.2_Missense_Mutation_p.G279R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 279 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G279E(31)|p.G279R(7)|p.0?(7)|p.R280fs*65(6)|p.G279V(4)|p.G279G(3)|p.G279W(2)|p.?(2)|p.G279fs*65(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.G279fs*26(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTCTCTCCCAGGACAGGCA 0.547 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.004672 0 3 30 KRBA2 124751 broad.mit.edu 37 17 8273001 8273001 + Silent SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:8273001T>C uc002glf.1 - 2 936 c.930A>G c.(928-930)TTA>TTG p.L310L KRBA2_uc002glg.1_Silent_p.L227L NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 310 Integrase catalytic. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 TGAAAATATCTAACAAGACAC 0.418 NaN 0 0 0 0.021553 0 6 44 ATPAF2 91647 broad.mit.edu 37 17 17921970 17921970 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:17921970G>A uc002gse.1 - 8 916 c.763C>T c.(763-765)CAT>TAT p.H255Y ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_RNA NM_145691 NP_663729 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly 255 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding 0 all_neural(463;0.228) TCATAGTCATGGGCCCACTCA 0.607 NaN 0 0 0 0.006214 0 7 114 GIT1 28964 broad.mit.edu 37 17 27909741 27909741 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:27909741C>T uc002hef.2 - 4 594 c.380G>A c.(379-381)GGA>GAA p.G127E GIT1_uc002heg.2_Missense_Mutation_p.G127E|GIT1_uc010wbg.1_Missense_Mutation_p.G127E|GIT1_uc010csb.1_Missense_Mutation_p.G127E NM_014030 NP_054749 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interactor 1 127 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding 0 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GGCGGTGACTCCATCATCGTC 0.577 NaN 0 0 0 0.004672 0 3 30 STH 246744 broad.mit.edu 37 17 44076786 44076786 + Silent SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:44076786C>A uc002ijy.2 + 1 171 c.141C>A c.(139-141)ACC>ACA p.T47T MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_001007532 NP_001007533 Q8IWL8 STH_HUMAN saitohin 47 cytoplasm|nucleus 0 GAGACAGAACCCTCAGCTTAG 0.413 NaN 1 0 0.000602214 0.014758 0.000630224 5 42 SP2 6668 broad.mit.edu 37 17 46000404 46000404 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:46000404C>T uc002imk.2 + 4 1273 c.1136C>T c.(1135-1137)ACC>ATC p.T379I SP2_uc002iml.2_Missense_Mutation_p.T372I NM_003110 NP_003101 Q02086 SP2_HUMAN Sp2 transcription factor 379 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding 0 GCTGCAGCCACCTCTAACACC 0.587 NaN 0 0 0 0.016723 0 13 69 DLX3 1747 broad.mit.edu 37 17 48072068 48072068 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:48072068G>A uc002ipy.2 - 1 521 c.295C>T c.(295-297)CGG>TGG p.R99W NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 99 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGCTGCTCCCGATACGCCCCG 0.627 NaN 0 0 0 0.004482 0 8 29 BRIP1 83990 broad.mit.edu 37 17 59934548 59934548 + Missense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:59934548A>T uc002izk.1 - 4 391 c.250T>A c.(250-252)TTG>ATG p.L84M NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 84 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 CAACATGACAATTGTACTTCA 0.343 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.016723 0 13 72 KCNH6 81033 broad.mit.edu 37 17 61623123 61623123 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:61623123C>G uc002jay.2 + 14 2925 c.2845C>G c.(2845-2847)CTA>GTA p.L949V KCNH6_uc010wpl.1_Missense_Mutation_p.L790V|KCNH6_uc010wpm.1_Missense_Mutation_p.L913V|KCNH6_uc002jaz.1_Missense_Mutation_p.L860V NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 949 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) AGCCTCACCTCTACATCCCCT 0.587 NaN 0 0 0 0.004482 0 9 99 FTSJ3 117246 broad.mit.edu 37 17 61897650 61897650 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:61897650T>C uc002jbz.2 - 18 2299 c.2221A>G c.(2221-2223)AAG>GAG p.K741E FTSJ3_uc002jca.2_Missense_Mutation_p.K741E NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 741 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 TCAGCCACCTTCTTGATGGGA 0.562 NaN 0 0 0 0.004482 0 8 105 ABCA8 10351 broad.mit.edu 37 17 66937049 66937049 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:66937049G>A uc002jhp.2 - 3 330 c.151C>T c.(151-153)CAT>TAT p.H51Y ABCA8_uc002jhq.2_Missense_Mutation_p.H51Y|ABCA8_uc010wqq.1_Missense_Mutation_p.H51Y|ABCA8_uc010wqr.1_5'UTR|ABCA8_uc002jhr.2_Missense_Mutation_p.H51Y|ABCA8_uc002jhs.2_Missense_Mutation_p.H51Y|ABCA8_uc002jht.2_Missense_Mutation_p.H51Y NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 51 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) TTTACTTGATGACTATGAGGA 0.323 NaN 0 0 0 0.004672 0 3 30 ABCA9 10350 broad.mit.edu 37 17 67045523 67045523 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:67045523C>T uc002jhu.2 - 3 348 c.205G>A c.(205-207)GAT>AAT p.D69N ABCA9_uc010dez.2_Missense_Mutation_p.D69N|ABCA9_uc002jhv.2_Missense_Mutation_p.D69N NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 69 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TTAAAACTATCTACACGTCCC 0.363 NaN 0 0 0 0.020292 0 14 85 ABCA10 10349 broad.mit.edu 37 17 67189995 67189995 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:67189995G>T uc010dfa.1 - 14 2360 c.1481C>A c.(1480-1482)GCT>GAT p.A494D ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.A95D NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 494 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TTTTATTTTAGCAAATACCCT 0.328 NaN 1 0 9.70103e-10 0.008291 1.10054e-09 9 101 FOXK2 3607 broad.mit.edu 37 17 80529635 80529635 + Silent SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:80529635G>C uc002kfn.2 + 4 969 c.798G>C c.(796-798)CTG>CTC p.L266L FOXK2_uc002kfm.1_Silent_p.L266L|FOXK2_uc010diu.2_Silent_p.L266L NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 266 Fork-head. embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) ACGCGCAGCTGATAGTTCAGG 0.398 NaN 0 0 0 0.00308 0 7 52 KIAA1012 22878 broad.mit.edu 37 18 29511315 29511315 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr18:29511315C>T uc002kxc.3 - 2 693 c.329G>A c.(328-330)GGA>GAA p.G110E KIAA1012_uc002kxb.3_Missense_Mutation_p.G56E|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.G110E NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 110 ER to Golgi vesicle-mediated transport cis-Golgi network 0 GTCATAATCTCCTGCTGTAAT 0.408 NaN 0 0 0 0.010729 0 10 94 RIT2 6014 broad.mit.edu 37 18 40323522 40323522 + Missense_Mutation SNP C C G rs77976328 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr18:40323522C>G uc002lav.2 - 5 763 c.590G>C c.(589-591)AGA>ACA p.R197T RIT2_uc010dnf.2_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 197 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 GCTGTCTTTTCTCTTCAGTTT 0.413 NaN 0 0 0 0.021523 0 23 152 TMEM146 257062 broad.mit.edu 37 19 5772930 5772930 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:5772930C>A uc002mda.2 + 20 1956 c.1895C>A c.(1894-1896)ACC>AAC p.T632N NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 632 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CAGAACTGGACCACCATGATA 0.567 NaN 1 0 0.00024832 0.009096 0.000262927 3 40 MYO9B 4650 broad.mit.edu 37 19 17263473 17263473 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:17263473C>G uc010eak.2 + 4 1107 c.955C>G c.(955-957)CTG>GTG p.L319V MYO9B_uc002nfi.2_Missense_Mutation_p.L319V|MYO9B_uc002nfj.1_Missense_Mutation_p.L319V NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 319 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CGAGAAATATCTGCTTGAAAA 0.368 NaN 0 0 0 0.021553 0 4 35 ZNF536 9745 broad.mit.edu 37 19 31039753 31039753 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:31039753C>G uc002nsu.1 + 4 3365 c.3227C>G c.(3226-3228)TCT>TGT p.S1076C ZNF536_uc010edd.1_Missense_Mutation_p.S1076C NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1076 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GACTCTGCTTCTGAGAAGATG 0.552 NaN 0 0 0 0.00308 0 8 61 KIAA0355 9710 broad.mit.edu 37 19 34832940 34832940 + Missense_Mutation SNP C C T rs144261536 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:34832940C>T uc002nvd.3 + 10 2960 c.2101C>T c.(2101-2103)CGG>TGG p.R701W NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 701 ovary(1) 1 Esophageal squamous(110;0.162) CCCTCCACCACGGGCACCCCA 0.612 NaN 0 0 0 0.004482 0 8 94 CIC 23152 broad.mit.edu 37 19 42793047 42793047 + Silent SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:42793047T>C uc002otf.1 + 7 979 c.939T>C c.(937-939)TCT>TCC p.S313S NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) CAGTGTCCTCTGAGCTCCTGT 0.562 NaN T DUX4 soft tissue sarcoma 0 0 0 0.028581 0 5 42 CIC 23152 broad.mit.edu 37 19 42793049 42793049 + Missense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:42793049A>T uc002otf.1 + 7 981 c.941A>T c.(940-942)GAG>GTG p.E314V NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GTGTCCTCTGAGCTCCTGTCC 0.557 NaN T DUX4 soft tissue sarcoma 0 0 0 0.024245 0 4 44 XRCC1 7515 broad.mit.edu 37 19 44079154 44079154 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:44079154T>C uc002owt.2 - 2 172 c.52A>G c.(52-54)ACT>GCT p.T18A XRCC1_uc010xwp.1_Intron|uc010xwq.1_5'Flank NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 18 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) GCACAGTGAGTCTGGAAACAA 0.527 NaN Other_BER_factors 0 0 0 0.021553 0 6 26 ZNF283 284349 broad.mit.edu 37 19 44352248 44352249 + Missense_Mutation DNP GG GG TC TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:44352248_44352249GG>TC uc002oxr.3 + 7 1763_1764 c.1495_1496GG>TC c.(1495-1497)GGG>TCG p.G499S ZNF283_uc002oxp.3_Missense_Mutation_p.G360S NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN zinc finger protein 283 499 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) CTTTTGTAGTGGGTATCAACTT 0.411 NaN 0 0 0 0.004672 0 21 101 ERCC2 2068 broad.mit.edu 37 19 45855835 45855835 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:45855835G>A uc002pbj.2 - 21 2022 c.1975C>T c.(1975-1977)CAC>TAC p.H659Y ERCC2_uc002pbh.2_Missense_Mutation_p.H222Y|ERCC2_uc002pbi.2_Missense_Mutation_p.H352Y|ERCC2_uc010ejz.2_Missense_Mutation_p.H581Y|ERCC2_uc002pbk.2_Missense_Mutation_p.H635Y NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 659 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGGGCCGCGTGGCGCATGGCA 0.612 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.006122 0 19 57 PTGIR 5739 broad.mit.edu 37 19 47124901 47124901 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:47124901G>C uc002pex.2 - 3 910 c.797C>G c.(796-798)CCT>CGT p.P266R NM_000960 NP_000951 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 266 Extracellular (Potential). cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GCTGCTGTCAGGGGCGACAGC 0.642 NaN 0 0 0 0.008291 0 10 32 ALDH16A1 126133 broad.mit.edu 37 19 49967904 49967904 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:49967904C>T uc002pnt.2 + 12 1569 c.1453C>T c.(1453-1455)CTG>TTG p.L485L ALDH16A1_uc010yar.1_Silent_p.L434L|ALDH16A1_uc010yas.1_Silent_p.L320L|ALDH16A1_uc010yat.1_Silent_p.L322L NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 485 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GTATGAGTATCTGCGGCCCTC 0.662 NaN 0 0 0 0.004482 0 9 137 ZNF468 90333 broad.mit.edu 37 19 53352431 53352431 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:53352431G>A uc002qaf.2 - 3 202 c.51C>T c.(49-51)TTC>TTT p.F17F ZNF468_uc002qae.2_5'UTR NM_001008801 NP_001008801 Q5VIY5 ZN468_HUMAN zinc finger protein ZNF468 isoform 2 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0358) CCTCCTGAGAGAATTCTATGG 0.443 NaN 0 0 0 0.00308 0 7 158 ZNF160 90338 broad.mit.edu 37 19 53573254 53573254 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:53573254T>C uc010eqk.2 - 7 949 c.533A>G c.(532-534)AAC>AGC p.N178S ZNF160_uc002qaq.3_Missense_Mutation_p.N178S|ZNF160_uc002qar.3_Missense_Mutation_p.N178S NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 178 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) AAGCTGATTGTTCATAAGCTT 0.413 NaN 0 0 0 0.021553 0 5 146 CACNG6 59285 broad.mit.edu 37 19 54502980 54502980 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:54502980G>A uc002qct.2 + 3 1089 c.499G>A c.(499-501)GCA>ACA p.A167T CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 167 voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CAGTAAAGGTGCAGAGTTCCT 0.592 NaN 0 0 0 0.021553 0 6 178 PRPF31 26121 broad.mit.edu 37 19 54632680 54632681 + Missense_Mutation DNP GG GG CC TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:54632680_54632681GG>CC uc002qdh.2 + 13 1705_1706 c.1309_1310GG>CC c.(1309-1311)GGG>CCG p.G437P PRPF31_uc010yek.1_Missense_Mutation_p.R414P NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 homolog 437 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding ovary(1) 1 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGTATATGGCGGGAAGTCCACC 0.619 NaN OREG0003636 type=REGULATORY REGION|Gene=AK091105|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.004672 0 3 11 PTPRH 5794 broad.mit.edu 37 19 55696892 55696892 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:55696892C>T uc002qjq.2 - 18 3113 c.3040G>A c.(3040-3042)GGC>AGC p.G1014S PTPRH_uc010esv.2_Missense_Mutation_p.G836S NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1014 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) ATGGGTGGGCCTCCCTCCATG 0.632 NaN 0 0 0 0.004672 0 3 18 HSPBP1 23640 broad.mit.edu 37 19 55776711 55776711 + Nonsense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:55776711C>A uc002qjx.2 - 6 1188 c.1078G>T c.(1078-1080)GAA>TAA p.E360* HSPBP1_uc002qjy.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkb.2_Missense_Mutation_p.G310V|HSPBP1_uc002qka.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkd.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkc.2_Nonsense_Mutation_p.E314*|uc002qke.2_5'Flank NM_012267 NP_036399 Q9NZL4 HPBP1_HUMAN hsp70-interacting protein 317 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) AGGCCCAGTTCCGGCTCCCGA 0.647 NaN 1 0 0.000157383 0.00308 0.000167958 7 93 APOB 338 broad.mit.edu 37 2 21228278 21228278 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:21228278G>C uc002red.2 - 26 11590 c.11462C>G c.(11461-11463)ACT>AGT p.T3821S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3821 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) CTGGGACACAGTTAACTGAGA 0.423 NaN 0 0 0 0.014758 0 4 167 APOB 338 broad.mit.edu 37 2 21249677 21249677 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:21249677C>T uc002red.2 - 15 2355 c.2227G>A c.(2227-2229)GAT>AAT p.D743N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 743 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) TGTTTATCATCTTTGGTATAG 0.393 NaN 0 0 0 0.02938 0 7 93 SMYD1 150572 broad.mit.edu 37 2 88387407 88387407 + Missense_Mutation SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:88387407T>G uc002ssr.2 + 3 343 c.341T>G c.(340-342)GTG>GGG p.V114G SMYD1_uc002ssq.1_Intron NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 ATGTGGCGGGTGGAGAGAGAA 0.542 NaN 0 0 0 0.021553 0 3 3 DARS 1615 broad.mit.edu 37 2 136673932 136673932 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:136673932C>T uc002tux.1 - 11 1154 c.970G>A c.(970-972)GAA>AAA p.E324K DARS_uc010fnj.1_Missense_Mutation_p.E224K NM_001349 NP_001340 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 324 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GTTTGAATTTCAGTCTGAAAC 0.348 NaN 0 0 0 0.00308 0 7 87 THSD7B 80731 broad.mit.edu 37 2 138320875 138320875 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:138320875G>C uc002tva.1 + 15 3136 c.3136G>C c.(3136-3138)GAG>CAG p.E1046Q THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AATCAACAATGAGCTGAGGTC 0.453 NaN 0 0 0 0.009096 0 4 24 ZEB2 9839 broad.mit.edu 37 2 145147516 145147516 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:145147516G>A uc002tvu.2 - 10 3627 c.3147C>T c.(3145-3147)CAC>CAT p.H1049H ZEB2_uc002tvv.2_Silent_p.H1043H|ZEB2_uc010zbm.1_Silent_p.H1020H|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 1049 C2H2-type 6. cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TCTCGCCCGAGTGAAGCCTTG 0.478 NaN 0 0 0 0.00308 0 8 49 KCNH7 90134 broad.mit.edu 37 2 163236421 163236421 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:163236421C>G uc002uch.1 - 14 3285 c.3073G>C c.(3073-3075)GAC>CAC p.D1025H NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 1025 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TAGGTGAGGTCGCTTTCGGTT 0.517 NaN 0 0 0 0.013537 0 12 154 LRP2 4036 broad.mit.edu 37 2 170009322 170009322 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:170009322C>A uc002ues.2 - 67 12661 c.12448G>T c.(12448-12450)GAC>TAC p.D4150Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4150 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCAACCCAGTCCACTGCTATT 0.478 NaN 1 0 0.00010058 0.013537 0.000108194 13 137 HNRNPA3 220988 broad.mit.edu 37 2 178082493 178082493 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:178082493C>T uc002ulb.1 + 8 987 c.881C>T c.(880-882)CCA>CTA p.P294L HNRNPA3_uc002ulc.1_Missense_Mutation_p.P294L|HNRNPA3_uc002uld.2_Missense_Mutation_p.P272L|HNRNPA3_uc002ule.2_Missense_Mutation_p.P71L NM_194247 NP_919223 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 294 Gly-rich. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(2) 2 GGTGGTGGACCAGGATATGGA 0.438 NaN 0 0 0 0.006214 0 10 120 CASP8 841 broad.mit.edu 37 2 202131238 202131238 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:202131238T>C uc002uxr.1 + 3 238 c.29T>C c.(28-30)ATT>ACT p.I10T CASP8_uc010ftc.1_Missense_Mutation_p.I10T|CASP8_uc002uxo.1_Missense_Mutation_p.I10T|CASP8_uc002uxp.1_Missense_Mutation_p.I10T|CASP8_uc002uxq.1_Missense_Mutation_p.I10T|CASP8_uc002uxs.1_Missense_Mutation_p.I10T|CASP8_uc002uxt.1_Missense_Mutation_p.I69T|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.I10T|CASP8_uc002uxw.1_Missense_Mutation_p.I10T|CASP8_uc002uxy.1_Missense_Mutation_p.I10T|CASP8_uc002uxx.1_Missense_Mutation_p.I10T|CASP8_uc010ftf.2_Missense_Mutation_p.I10T NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 10 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CTTTATGATATTGGGGAACAA 0.408 NaN HNSCC(4;0.00038) 0 0 0 0.02938 0 6 60 SCLY 51540 broad.mit.edu 37 2 238999877 238999877 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:238999877G>A uc010fyv.2 + 8 967 c.903G>A c.(901-903)ATG>ATA p.M301I SCLY_uc002vxm.3_Missense_Mutation_p.M268I|SCLY_uc002vxn.2_Missense_Mutation_p.M301I|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Missense_Mutation_p.M207I NM_016510 NP_057594 Q96I15 SCLY_HUMAN selenocysteine lyase 301 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity ovary(2) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) ACACCCCAATGATTGCTGGCC 0.463 NaN 0 0 0 0.024245 0 10 111 PDYN 5173 broad.mit.edu 37 20 1961214 1961214 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr20:1961214G>A uc010gaj.2 - 3 762 c.520C>T c.(520-522)CGC>TGC p.R174C uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R174C|PDYN_uc010zpt.1_Missense_Mutation_p.R19C NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 174 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 CCCCCATAGCGTTTGACCTGC 0.582 NaN 0 0 0 0.021553 0 6 81 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr20:33345744C>T uc002xav.2 - 8 3378 c.807G>A c.(805-807)CAG>CAA p.Q269Q NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 gctgctgctgctgttgttgtt 0.313 NaN 0 0 0 0.004672 0 3 18 ZHX3 23051 broad.mit.edu 37 20 39832810 39832810 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr20:39832810G>T uc002xjs.1 - 3 1125 c.747C>A c.(745-747)AAC>AAA p.N249K ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 249 Required for homodimerization and interaction with NFYA. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) CGGCATGGGGGTTTTTTGCAG 0.587 NaN 1 0 0.00116845 0.021553 0.00121807 6 68 TSHZ2 128553 broad.mit.edu 37 20 51870547 51870547 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr20:51870547C>T uc002xwo.2 + 2 1506 c.550C>T c.(550-552)CGG>TGG p.R184W NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 184 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CTTGCCTTCTCGGTCCGTCTC 0.552 NaN 0 0 0 0.009096 0 4 41 IL10RB 3588 broad.mit.edu 37 21 34648997 34648997 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr21:34648997G>A uc002yrk.1 + 3 369 c.270G>A c.(268-270)AGG>AGA p.R90R IL10RB_uc002yrh.1_Silent_p.R160R|IL10RB_uc002yri.1_Silent_p.R43R|IL10RB_uc002yrl.1_Silent_p.R92R NM_000628 NP_000619 Q08334 I10R2_HUMAN interleukin 10 receptor, beta precursor 90 Extracellular (Potential). immune response|inflammatory response interleukin-28 receptor complex protein binding|receptor activity 0 TGAGAGTCAGGGCTGAATTTG 0.398 NaN 0 0 0 0.010729 0 11 148 KCNJ15 3772 broad.mit.edu 37 21 39671406 39671406 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr21:39671406G>A uc002ywv.2 + 4 525 c.223G>A c.(223-225)GTG>ATG p.V75M KCNJ15_uc002yww.2_Missense_Mutation_p.V75M|KCNJ15_uc002ywx.2_Missense_Mutation_p.V75M NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 75 Helical; Name=M1; (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 TGCCACTTTTGTGATGACCTG 0.473 NaN 0 0 0 0.00308 0 7 88 ERG 2078 broad.mit.edu 37 21 39755633 39755633 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr21:39755633T>C uc010gnw.2 - 12 1448 c.1153A>G c.(1153-1155)ATG>GTG p.M385V ERG_uc002yxa.2_Missense_Mutation_p.M378V|ERG_uc011aek.1_Missense_Mutation_p.M286V|ERG_uc010gnv.2_Missense_Mutation_p.M262V|ERG_uc010gnx.2_Missense_Mutation_p.M361V|ERG_uc011ael.1_Missense_Mutation_p.M385V|ERG_uc002yxb.2_Missense_Mutation_p.M361V NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 385 ETS. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) ACCTTGGTCATGATGTTCTTG 0.592 NaN 0 0 0 0.008291 0 10 85 GAB4 128954 broad.mit.edu 37 22 17447085 17447085 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:17447085G>C uc002zlw.2 - 6 1301 c.1193C>G c.(1192-1194)TCC>TGC p.S398C GAB4_uc010gqs.1_3'UTR NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 398 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGTGAGTGGGGAGCCAAGCAG 0.592 NaN 0 0 0 0.00308 0 8 57 ZNF74 7625 broad.mit.edu 37 22 20749694 20749694 + Missense_Mutation SNP G G A rs139227842 by1000genomes TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:20749694G>A uc010gsm.2 + 3 318 c.106G>A c.(106-108)GAA>AAA p.E36K ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Missense_Mutation_p.E36K|ZNF74_uc002zsi.2_Intron|ZNF74_uc010gsn.2_5'UTR NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 36 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGGTCTTCCCGAAGCCAGGTC 0.532 NaN 0 0 0 0.009096 0 4 57 EWSR1 2130 broad.mit.edu 37 22 29695597 29695597 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:29695597C>T uc003aet.2 + 16 2015 c.1687C>T c.(1687-1689)CGT>TGT p.R563C EWSR1_uc003aev.2_Missense_Mutation_p.R568C|EWSR1_uc003aew.2_Missense_Mutation_p.R507C|EWSR1_uc003aex.2_Missense_Mutation_p.R562C|EWSR1_uc003aey.2_Missense_Mutation_p.R358C|EWSR1_uc003aez.2_Missense_Mutation_p.R224C NM_005243 NP_005234 Q01844 EWS_HUMAN Ewing sarcoma breakpoint region 1 isoform 2 563 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2) bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1) 3254 AGGTGGTGATCGTGGCAGAGG 0.607 NaN T FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1 Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma 0 0 0 0.014758 0 3 33 NF2 4771 broad.mit.edu 37 22 30057255 30057255 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:30057255C>T uc003age.3 + 8 1180 c.737C>T c.(736-738)CCT>CTT p.P246L NF2_uc003afy.3_Missense_Mutation_p.P246L|NF2_uc003afz.3_Missense_Mutation_p.P163L|NF2_uc003agf.3_Missense_Mutation_p.P246L|NF2_uc003agb.3_Missense_Mutation_p.P169L|NF2_uc003agc.3_Missense_Mutation_p.P208L|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.P246L|NF2_uc003aga.3_Missense_Mutation_p.P204L|NF2_uc003agh.3_Missense_Mutation_p.P205L|NF2_uc003agi.3_Missense_Mutation_p.P163L|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.P208L NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 246 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.P246fs*5(2)|p.?(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.L127_D382del(1)|p.L140_P252del(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 ATTTATGACCCTGAGAACAGA 0.502 NaN D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 0 0 0 0.010729 0 11 114 APOL1 8542 broad.mit.edu 37 22 36661781 36661781 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:36661781C>T uc003apf.2 + 6 1067 c.899C>T c.(898-900)TCA>TTA p.S300L APOL1_uc011amn.1_Missense_Mutation_p.S177L|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.S316L|APOL1_uc011amo.1_Missense_Mutation_p.S177L|APOL1_uc011amp.1_Missense_Mutation_p.S300L|APOL1_uc011amq.1_Missense_Mutation_p.S282L|APOL1_uc010gwx.2_Missense_Mutation_p.S177L NM_003661 NP_003652 O14791 APOL1_HUMAN apolipoprotein L1 isoform a precursor 300 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|ovary(1) 3 CCGCATGCCTCAGCCTCACGC 0.557 NaN 0 0 0 0.00308 0 7 60 FAM83F 113828 broad.mit.edu 37 22 40415261 40415261 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:40415261C>T uc003ayk.1 + 2 673 c.579C>T c.(577-579)TAC>TAT p.Y193Y NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 193 breast(1) 1 TCCCAGTGTACATCATCCTGG 0.542 NaN 0 0 0 0.024245 0 12 50 TCF20 6942 broad.mit.edu 37 22 42609633 42609633 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:42609633G>A uc003bcj.1 - 1 1813 c.1679C>T c.(1678-1680)CCG>CTG p.P560L TCF20_uc003bck.1_Missense_Mutation_p.P560L|TCF20_uc003bnt.2_Missense_Mutation_p.P560L NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 ACCTTGTGCCGGTGAGGAGCC 0.577 NaN 0 0 0 0.0333 0 18 82 CELSR1 9620 broad.mit.edu 37 22 46759909 46759909 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:46759909C>T uc003bhw.1 - 34 9019 c.9019G>A c.(9019-9021)GAT>AAT p.D3007N NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 3007 Cytoplasmic (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCGGAGCCATCGGCCTGGGCG 0.672 NaN 0 0 0 0.004482 0 7 14 PLXNB2 23654 broad.mit.edu 37 22 50718479 50718479 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:50718479C>A uc003bkv.3 - 26 4303 c.4197G>T c.(4195-4197)AGG>AGT p.R1399S PLXNB2_uc003bkt.1_Missense_Mutation_p.R191S|PLXNB2_uc003bku.1_Missense_Mutation_p.R384S NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1399 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGGACAGCATCCTCTCCACCA 0.612 NaN 1 0 1.23904e-05 0.014758 1.35442e-05 5 38 ATP2B2 491 broad.mit.edu 37 3 10370803 10370803 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:10370803C>T uc003bvt.2 - 23 3866 c.3427G>A c.(3427-3429)GTC>ATC p.V1143I ATP2B2_uc003bvv.2_Missense_Mutation_p.V1098I|ATP2B2_uc003bvw.2_Missense_Mutation_p.V1098I|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.V848I|hsa-mir-378b|MI0014154_5'Flank NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 1143 Calmodulin-binding subdomain B (By similarity).|Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GCCTTCACGACGCGGATCTGC 0.582 NaN 0 0 0 0.009096 0 4 57 TRIM71 131405 broad.mit.edu 37 3 32927521 32927521 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:32927521G>A uc003cff.2 + 3 1179 c.1116G>A c.(1114-1116)AAG>AAA p.K372K NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 372 multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 CGAGGCATAAGAAAGCCCTGG 0.617 NaN 0 0 0 0.014758 0 5 39 SLC22A13 9390 broad.mit.edu 37 3 38318947 38318947 + Silent SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:38318947A>G uc003chz.3 + 10 1701 c.1647A>G c.(1645-1647)ACA>ACG p.T549T NM_004256 NP_004247 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion 549 Cytoplasmic (Potential). integral to plasma membrane organic cation transmembrane transporter activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TGAGCAGCACATACTTCTGAT 0.562 NaN 0 0 0 0.021553 0 6 67 CCDC36 339834 broad.mit.edu 37 3 49294677 49294677 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:49294677G>A uc003cwk.2 + 10 2134 c.1747G>A c.(1747-1749)GAC>AAC p.D583N CCDC36_uc011bck.1_Missense_Mutation_p.D583N NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 583 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TTTGCTCTATGACCTGGGTTT 0.488 NaN 0 0 0 0.013537 0 13 118 HSPBAP1 79663 broad.mit.edu 37 3 122459659 122459659 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:122459659C>T uc003efu.1 - 8 1123 c.1000G>A c.(1000-1002)GAT>AAT p.D334N HSPBAP1_uc003eft.1_Missense_Mutation_p.D45N NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Hspb associated protein 1 334 cytoplasm ovary(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.0531) CTGCAGCGATCAAAAAATGCA 0.403 NaN 0 0 0 0.013537 0 11 131 KCNAB1 7881 broad.mit.edu 37 3 156234066 156234066 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:156234066C>T uc003far.2 + 11 937 c.873C>T c.(871-873)GGC>GGT p.G291G KCNAB1_uc011bon.1_Silent_p.G262G|KCNAB1_uc003fas.2_Silent_p.G280G|KCNAB1_uc003fat.2_Silent_p.G273G|KCNAB1_uc010hvt.1_Silent_p.G244G|KCNAB1_uc011boo.1_Silent_p.G167G NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 291 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TAGGTGTTGGCGCAATGACAT 0.453 NaN 0 0 0 0.014758 0 5 45 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.00308 0 6 38 NOP14 8602 broad.mit.edu 37 4 2950082 2950082 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:2950082C>G uc003ggj.1 - 9 1408 c.1336G>C c.(1336-1338)GAG>CAG p.E446Q C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.E192Q|NOP14_uc003ggk.3_Missense_Mutation_p.E446Q|NOP14_uc003ggl.2_Missense_Mutation_p.E446Q NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 446 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 AAAAGCTGCTCTTCCATCGAT 0.413 NaN 0 0 0 0.006214 0 10 88 UGDH 7358 broad.mit.edu 37 4 39523129 39523129 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:39523129A>G uc003guk.1 - 2 320 c.4T>C c.(4-6)TTT>CTT p.F2L UGDH_uc011byp.1_Intron|UGDH_uc003gul.1_Missense_Mutation_p.F2L NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 2 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) TTAATTTCAAACATGATTGTA 0.333 NaN 0 0 0 0.004672 0 3 58 SLC30A9 10463 broad.mit.edu 37 4 42069148 42069148 + Silent SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:42069148T>C uc003gwl.2 + 14 1337 c.1191T>C c.(1189-1191)GAT>GAC p.D397D SLC30A9_uc011byx.1_Silent_p.D157D NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), 397 Helical; (Potential). nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 TATTGGAGGATACTGCTGCAG 0.353 NaN 0 0 0 0.021553 0 5 110 UGT2B10 7365 broad.mit.edu 37 4 69692212 69692212 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:69692212C>T uc003hee.2 + 4 1109 c.1084C>T c.(1084-1086)CTA>TTA p.L362L UGT2B10_uc011cam.1_Silent_p.L278L NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 362 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GAATGACCTTCTAGGTAACAC 0.378 NaN 0 0 0 0.021553 0 5 63 HSD17B13 345275 broad.mit.edu 37 4 88239530 88239530 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:88239530T>C uc003hqo.2 - 2 332 c.269A>G c.(268-270)TAT>TGT p.Y90C HSD17B13_uc010ikk.2_Intron NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 90 extracellular region binding|oxidoreductase activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) GTCTACCACATACGCATGCGC 0.458 NaN 0 0 0 0.021553 0 6 62 C4orf21 55345 broad.mit.edu 37 4 113468478 113468478 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:113468478C>G uc003iau.2 - 24 5772 c.5561G>C c.(5560-5562)GGA>GCA p.G1854A C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.G312A NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 676 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTGTTCCAATCCATTTTCATG 0.373 NaN 0 0 0 0.004672 0 3 31 SH3D19 152503 broad.mit.edu 37 4 152065152 152065152 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:152065152C>G uc010ipl.1 - 13 2452 c.1362G>C c.(1360-1362)GAG>GAC p.E454D SH3D19_uc003imb.2_Missense_Mutation_p.E209D|SH3D19_uc003imc.2_Missense_Mutation_p.E395D|SH3D19_uc003ime.2_Missense_Mutation_p.E431D|SH3D19_uc010ipm.2_Missense_Mutation_p.E431D NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 454 SH3 1. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) CCTTTTGGCACTCCAAGTAAT 0.398 NaN 0 0 0 0.009096 0 4 55 FBXW7 55294 broad.mit.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:153247366C>G uc003ims.2 - 10 1585 c.1436G>C c.(1435-1437)CGA>CCA p.R479P FBXW7_uc011cii.1_Missense_Mutation_p.R479P|FBXW7_uc003imt.2_Missense_Mutation_p.R479P|FBXW7_uc011cih.1_Missense_Mutation_p.R303P|FBXW7_uc003imq.2_Missense_Mutation_p.R399P|FBXW7_uc003imr.2_Missense_Mutation_p.R361P NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 479 WD 3. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.014758 0 5 59 GUCY1B3 2983 broad.mit.edu 37 4 156715077 156715077 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:156715077G>C uc003ipc.2 + 6 732 c.565G>C c.(565-567)GAG>CAG p.E189Q GUCY1B3_uc011cio.1_Missense_Mutation_p.E211Q|GUCY1B3_uc011cip.1_Missense_Mutation_p.E169Q|GUCY1B3_uc003ipd.2_Missense_Mutation_p.E117Q|GUCY1B3_uc010iqf.2_Missense_Mutation_p.E189Q|GUCY1B3_uc010iqg.2_Missense_Mutation_p.E117Q|GUCY1B3_uc011ciq.1_Missense_Mutation_p.E117Q NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 189 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) GTCAAAAGAAGAGGATTTTTA 0.333 NaN 0 0 0 0.014758 0 5 53 FAT1 2195 broad.mit.edu 37 4 187541654 187541654 + Nonsense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:187541654G>T uc003izf.2 - 10 6274 c.6086C>A c.(6085-6087)TCA>TAA p.S2029* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2029 Extracellular (Potential).|Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CAGAACTCCTGAAGTGCGGCT 0.463 NaN HNSCC(5;0.00058) 1 0 9.57634e-11 0.01892 1.0956e-10 23 219 ADAMTS12 81792 broad.mit.edu 37 5 33624410 33624410 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:33624410C>T uc003jia.1 - 14 2232 c.2069G>A c.(2068-2070)CGC>CAC p.R690H ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 690 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CACACCGCAGCGATCCTCGGT 0.502 NaN HNSCC(64;0.19) 0 0 0 0.014758 0 5 49 JMY 133746 broad.mit.edu 37 5 78610358 78610358 + Silent SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:78610358T>G uc003kfx.3 + 9 2863 c.2343T>G c.(2341-2343)CCT>CCG p.P781P JMY_uc003kfw.1_Silent_p.P427P NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 781 Pro-rich. 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) CTGAACTGCCTCCCACTATAT 0.403 NaN 0 0 0 0.00308 0 6 103 RASGRF2 5924 broad.mit.edu 37 5 80390805 80390805 + Silent SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:80390805C>A uc003kha.1 + 12 1749 c.1749C>A c.(1747-1749)ATC>ATA p.I583I RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 583 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGAGTGACATCAGTCAGGTAA 0.393 NaN 1 0 2.0095e-06 0.02938 2.22362e-06 6 37 TRIM36 55521 broad.mit.edu 37 5 114499268 114499268 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:114499268C>T uc003kqs.2 - 2 754 c.245G>A c.(244-246)CGA>CAA p.R82Q TRIM36_uc011cwc.1_Missense_Mutation_p.R70Q|TRIM36_uc003kqt.2_Intron NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 82 RING-type; degenerate. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GAGCCGAAGTCGAGGACTGCT 0.448 NaN 0 0 0 0.014758 0 5 63 SLC12A2 6558 broad.mit.edu 37 5 127484463 127484463 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:127484463C>T uc003kus.2 + 12 2063 c.1899C>T c.(1897-1899)AAC>AAT p.N633N SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.N633N NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 633 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTAAGGACAACATCTACCCAG 0.328 NaN 0 0 0 0.006214 0 10 112 KDM3B 51780 broad.mit.edu 37 5 137756428 137756428 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:137756428A>G uc003lcy.1 + 15 3949 c.3749A>G c.(3748-3750)GAG>GGG p.E1250G KDM3B_uc010jew.1_Missense_Mutation_p.E906G|KDM3B_uc011cys.1_Missense_Mutation_p.E282G NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1250 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 CTCAATAAAGAGTCTCATTCA 0.483 NaN 0 0 0 0.010729 0 10 66 PCDHB2 56133 broad.mit.edu 37 5 140475832 140475832 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:140475832C>G uc003lil.2 + 1 1596 c.1458C>G c.(1456-1458)GCC>GCG p.A486A PCDHB2_uc003lim.1_Silent_p.A147A NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 486 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACCAACGCCCAGGTCACCT 0.662 NaN 0 0 0 0.013537 0 6 111 C5orf58 133874 broad.mit.edu 37 5 169661182 169661182 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:169661182G>A uc010jjn.2 + 2 126 c.43G>A c.(43-45)GAG>AAG p.E15K C5orf58_uc003mal.2_RNA NM_001102609 NP_001096079 C9J3I9 CE058_HUMAN hypothetical protein LOC133874 15 0 GGAAAAGGTAGAGGCAAGGAT 0.393 NaN 0 0 0 0.004672 0 3 28 ZNF346 23567 broad.mit.edu 37 5 176468221 176468221 + Silent SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:176468221A>T uc003mfi.2 + 2 313 c.270A>T c.(268-270)GCA>GCT p.A90A ZNF346_uc011dfr.1_Silent_p.A90A|ZNF346_uc011dfs.1_Intron|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Silent_p.A115A|ZNF346_uc011dft.1_Intron NM_012279 NP_036411 Q9UL40 ZN346_HUMAN zinc finger protein 346 90 Matrin-type 1. cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding 0 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAAGCTGGCACATTACCAGG 0.458 NaN 0 0 0 0.010729 0 12 110 HIVEP1 3096 broad.mit.edu 37 6 12125108 12125108 + Nonsense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:12125108C>T uc003nac.2 + 4 5259 c.5080C>T c.(5080-5082)CAG>TAG p.Q1694* HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1694 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAAAGGTCATCAGAATGCTTT 0.393 NaN 0 0 0 0.028581 0 16 93 GPLD1 2822 broad.mit.edu 37 6 24472819 24472819 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:24472819G>A uc003ned.1 - 7 647 c.536C>T c.(535-537)GCA>GTA p.A179V GPLD1_uc010jpr.1_Intron|GPLD1_uc010jps.1_Missense_Mutation_p.A179V NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 179 extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 CCAGCGTCGTGCAAGGTAATT 0.338 NaN 0 0 0 0.013537 0 9 78 GRM4 2914 broad.mit.edu 37 6 34003916 34003916 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:34003916G>C uc003oir.3 - 8 2141 c.1971C>G c.(1969-1971)ATC>ATG p.I657M GRM4_uc011dsn.1_Missense_Mutation_p.I610M|GRM4_uc010jvh.2_Missense_Mutation_p.I657M|GRM4_uc010jvi.2_Missense_Mutation_p.I349M|GRM4_uc003oio.2_Missense_Mutation_p.I349M|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.I517M|GRM4_uc003oiq.2_Missense_Mutation_p.I524M|GRM4_uc011dsm.1_Missense_Mutation_p.I488M NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 657 Helical; Name=3; (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) GTCCCAGGAAGATTCGGCGCA 0.602 NaN 0 0 0 0.014758 0 5 43 TEAD3 7005 broad.mit.edu 37 6 35454253 35454253 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:35454253C>G uc003oku.3 - 2 423 c.187G>C c.(187-189)GAG>CAG p.E63Q TEAD3_uc010jvx.2_Silent_p.T45T NM_003214 NP_003205 Q99594 TEAD3_HUMAN TEA domain family member 3 63 TEA. female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ATCTTGCCCTCGTCTGACAGG 0.697 NaN 0 0 0 0.014758 0 5 40 BRPF3 27154 broad.mit.edu 37 6 36168658 36168658 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:36168658C>T uc003olv.3 + 2 783 c.559C>T c.(559-561)CTG>TTG p.L187L BRPF3_uc010jwb.2_Silent_p.L187L|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.L187L NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 187 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 CTTTGAGCTGCTGGTAGACCG 0.527 NaN 0 0 0 0.014758 0 4 55 PRPH2 5961 broad.mit.edu 37 6 42672298 42672298 + Silent SNP G G A rs61755799 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:42672298G>A uc003osk.2 - 2 919 c.633C>T c.(631-633)TTC>TTT p.F211F NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 211 Lumenal (Potential). F -> L (in RP7). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) TGCAGCAGCTGAAAGGGACGC 0.562 NaN 0 0 0 0.014758 0 5 51 GPR116 221395 broad.mit.edu 37 6 46849233 46849233 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:46849233G>A uc003oyo.3 - 8 1062 c.773C>T c.(772-774)ACC>ATC p.T258I GPR116_uc003oyp.3_Missense_Mutation_p.T258I|GPR116_uc003oyq.3_Missense_Mutation_p.T258I|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Missense_Mutation_p.T258I NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 258 SEA.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) CATTTTGTAGGTCTGATTGAG 0.368 NaN 0 0 0 0.014758 0 5 66 DST 667 broad.mit.edu 37 6 56401661 56401661 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:56401661C>T uc003pdf.2 - 56 10357 c.10329G>A c.(10327-10329)CAG>CAA p.Q3443Q DST_uc003pcz.3_Silent_p.Q3265Q|DST_uc011dxj.1_Silent_p.Q3294Q|DST_uc011dxk.1_Silent_p.Q3305Q|DST_uc003pcy.3_Silent_p.Q2939Q NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5351 Spectrin 7. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGGCAGCACTCTGAATAAGGC 0.433 NaN 0 0 0 0.014758 0 5 62 AKD1 221264 broad.mit.edu 37 6 109996891 109996891 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:109996891C>T uc003ptn.2 - 2 135 c.58G>A c.(58-60)GAA>AAA p.E20K AKD1_uc003ptr.3_Missense_Mutation_p.E20K|AKD1_uc003pts.1_RNA NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 20 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 CTTTCAGTTTCATCTTCATCA 0.289 NaN 0 0 0 0.009096 0 4 27 TSPYL1 7259 broad.mit.edu 37 6 116600201 116600201 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:116600201G>C uc003pwp.3 - 1 1080 c.793C>G c.(793-795)CTG>GTG p.L265V DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank NM_003309 NP_003300 Q9H0U9 TSYL1_HUMAN TSPY-like 1 265 nucleosome assembly nucleolus 0 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) CTCCGCTCCAGGTAGTGTCGA 0.562 NaN 0 0 0 0.00308 0 8 84 MAP3K5 4217 broad.mit.edu 37 6 136904781 136904781 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:136904781G>A uc003qhc.2 - 24 3684 c.3323C>T c.(3322-3324)ACC>ATC p.T1108I MAP3K5_uc011edj.1_Missense_Mutation_p.T355I|MAP3K5_uc011edk.1_Missense_Mutation_p.T954I NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 1108 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TGACAGTGTGGTGGCTATGAT 0.463 NaN 0 0 0 0.00308 0 8 67 GET4 51608 broad.mit.edu 37 7 926266 926266 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:926266G>A uc003sjl.1 + 3 387 c.295G>A c.(295-297)GAG>AAG p.E99K GET4_uc003sjj.1_RNA NM_015949 NP_057033 Q7L5D6 GET4_HUMAN hypothetical protein LOC51608 99 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding 0 GGCGGAAGTGGAGGTGGCTGA 0.597 NaN 0 0 0 0.028581 0 15 67 INTS1 26173 broad.mit.edu 37 7 1513805 1513805 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:1513805A>G uc003skn.2 - 41 5929 c.5828T>C c.(5827-5829)CTG>CCG p.L1943P INTS1_uc003skm.1_Missense_Mutation_p.L80P NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1943 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGCACACACCAGCAGCAGGCG 0.706 NaN OREG0017827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 13 CHN2 1124 broad.mit.edu 37 7 29539546 29539546 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:29539546T>C uc003szz.2 + 9 1240 c.803T>C c.(802-804)CTC>CCC p.L268P CHN2_uc011jzs.1_Missense_Mutation_p.L343P|CHN2_uc010kva.2_Missense_Mutation_p.L38P|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.L233P|CHN2_uc011jzt.1_Missense_Mutation_p.L281P|CHN2_uc010kvd.2_Missense_Mutation_p.L124P|CHN2_uc011jzu.1_Missense_Mutation_p.L253P|CHN2_uc010kvg.2_Missense_Mutation_p.L132P|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.L132P|CHN2_uc010kve.2_Missense_Mutation_p.L132P|CHN2_uc003taa.2_Missense_Mutation_p.L132P|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.L87P|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.L87P|CHN2_uc011jzv.1_Missense_Mutation_p.L61P NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 268 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 CAACCTGATCTCAAGAGGATC 0.468 NaN 0 0 0 0.010729 0 12 46 AOAH 313 broad.mit.edu 37 7 36571798 36571798 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:36571798G>A uc003tfh.3 - 18 1781 c.1380C>T c.(1378-1380)CAC>CAT p.H460H AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 460 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 ACATCCAGCCGTGGCAGGGGC 0.512 NaN 0 0 0 0.00308 0 7 61 CUX1 1523 broad.mit.edu 37 7 101845239 101845239 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:101845239C>G uc003uyx.3 + 18 2700 c.2662C>G c.(2662-2664)CCA>GCA p.P888A CUX1_uc003uys.3_Missense_Mutation_p.P899A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 888 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CGCTGAGTCCCCATACTCCCA 0.672 NaN 0 0 0 0.016723 0 12 61 CAV1 857 broad.mit.edu 37 7 116166725 116166725 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:116166725C>G uc003vif.1 + 2 455 c.177C>G c.(175-177)CTC>CTG p.L59L CAV1_uc010lkd.1_Silent_p.L28L|CAV1_uc010lke.1_Silent_p.L28L|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Silent_p.L28L|CAV1_uc010lkf.1_Silent_p.L28L NM_001753 NP_001744 Q03135 CAV1_HUMAN caveolin 1 59 Cytoplasmic (Potential). blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding 0 all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609) STAD - Stomach adenocarcinoma(10;0.00878) CTAAACACCTCAACGATGACG 0.577 NaN OREG0018273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 45 FNTA 2339 broad.mit.edu 37 8 42939973 42939973 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:42939973G>A uc003xps.2 + 8 1014 c.966G>A c.(964-966)ATG>ATA p.M322I FNTA_uc003xpt.2_Missense_Mutation_p.M231I|FNTA_uc003xpu.2_Missense_Mutation_p.M255I|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 322 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ATGAAGACATGCTAGAAAATC 0.358 NaN 0 0 0 0.021553 0 4 71 MMP16 4325 broad.mit.edu 37 8 89198769 89198769 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:89198769G>A uc003yeb.3 - 3 622 c.340C>T c.(340-342)CAT>TAT p.H114Y MMP16_uc003yec.2_Missense_Mutation_p.H114Y NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 114 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 CGACGAATATGAAATTTGGAG 0.413 NaN 0 0 0 0.006214 0 9 154 PKHD1L1 93035 broad.mit.edu 37 8 110457514 110457514 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:110457514C>T uc003yne.2 + 38 5520 c.5416C>T c.(5416-5418)CCA>TCA p.P1806S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1806 Extracellular (Potential).|IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACTCCTCTCCCAGTTGGACA 0.468 NaN HNSCC(38;0.096) 0 0 0 0.02938 0 7 67 DOCK8 81704 broad.mit.edu 37 9 434792 434792 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:434792G>A uc003zgf.2 + 39 5008 c.4896G>A c.(4894-4896)AAG>AAA p.K1632K DOCK8_uc010mgu.2_Silent_p.K934K|DOCK8_uc010mgv.2_Silent_p.K1532K|DOCK8_uc003zgk.2_Silent_p.K1090K NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1632 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GAATTGCCAAGAGTTACCAGG 0.478 NaN 0 0 0 0.014758 0 5 41 RUSC2 9853 broad.mit.edu 37 9 35547473 35547473 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:35547473G>A uc003zww.2 + 2 1210 c.955G>A c.(955-957)GCC>ACC p.A319T RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A319T NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 319 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AGACCCTGGCGCCTTCTATCT 0.567 NaN 0 0 0 0.00308 0 7 61 FAM75A6 389730 broad.mit.edu 37 9 43625185 43625185 + Nonsense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:43625185G>A uc011lrb.1 - 4 3531 c.3502C>T c.(3502-3504)CAG>TAG p.Q1168* NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1168 integral to membrane 0 AAAATCCACTGAAAAAATTGC 0.428 NaN 0 0 0 0.013537 0 9 186 C9orf3 84909 broad.mit.edu 37 9 97767884 97767884 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:97767884G>C uc004ava.2 + 12 2236 c.2101G>C c.(2101-2103)GAG>CAG p.E701Q C9orf3_uc004auy.2_Missense_Mutation_p.E602Q|C9orf3_uc004auz.1_Missense_Mutation_p.E602Q|C9orf3_uc004avc.2_Missense_Mutation_p.E156Q|C9orf3_uc011luj.1_Missense_Mutation_p.E63Q|C9orf3_uc011luk.1_Missense_Mutation_p.E42Q|C9orf3_uc004avd.2_Missense_Mutation_p.E63Q|C9orf3_uc004ave.1_RNA NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 701 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GGAGAAGGAAGAGGTGTTTGA 0.522 NaN 0 0 0 0.00308 0 8 59 TDRD7 23424 broad.mit.edu 37 9 100249560 100249560 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:100249560C>T uc004axj.2 + 16 3247 c.3022C>T c.(3022-3024)CTA>TTA p.L1008L TDRD7_uc011lux.1_Silent_p.L934L|TDRD7_uc011luy.1_Silent_p.L328L NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 1008 Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) AGTACAGCCCCTAGTGGACAT 0.433 NaN 0 0 0 0.00308 0 8 78 EGFL7 51162 broad.mit.edu 37 9 139563050 139563050 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:139563050C>G uc004cid.2 + 4 1033 c.122C>G c.(121-123)TCC>TGC p.S41C EGFL7_uc004cif.2_Missense_Mutation_p.S41C|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Missense_Mutation_p.S41C|EGFL7_uc004cie.2_Missense_Mutation_p.S41C|EGFL7_uc004cih.2_Missense_Mutation_p.S41C|MIR126_hsa-mir-126|MI0000471_5'Flank NM_201446 NP_958854 Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 41 EMI. angiogenesis|vasculogenesis calcium ion binding ovary(1) 1 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GACCCTGTCTCCGAGTCGTTC 0.677 NaN 0 0 0 0.008291 0 11 97 IL1RAPL2 26280 broad.mit.edu 37 X 104478538 104478538 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:104478538G>C uc004elz.1 + 4 1149 c.393G>C c.(391-393)TTG>TTC p.L131F NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 131 Ig-like C2-type 1.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 CAATGTCCTTGACTGTTGCAG 0.393 NaN 0 0 0 0.006214 0 9 71 RIPPLY1 92129 broad.mit.edu 37 X 106144121 106144121 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:106144121G>A uc004emr.1 - 4 358 c.314C>T c.(313-315)TCC>TTC p.S105F MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Missense_Mutation_p.S58F NM_138382 NP_612391 Q0D2K3 RIPP1_HUMAN ripply1 homolog 105 Ripply homology domain. negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus 0 GAAGGAGCGGGATTTAGGCCA 0.512 NaN 0 0 0 0.014758 0 5 6 CLDN2 9075 broad.mit.edu 37 X 106171926 106171926 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:106171926G>A uc004emq.1 + 2 987 c.468G>A c.(466-468)ATG>ATA p.M156I MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.M156I NM_020384 NP_065117 P57739 CLD2_HUMAN claudin 2 156 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 CTGACAGCATGAAATTTGAGA 0.478 NaN 0 0 0 0.016723 0 14 63 CUL4B 8450 broad.mit.edu 37 X 119694330 119694330 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:119694330C>T uc004esw.2 - 3 655 c.218G>A c.(217-219)AGA>AAA p.R73K CUL4B_uc004esv.2_Missense_Mutation_p.R55K NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 73 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 AAAGTCTTCTCTCTCGTTAct 0.438 NaN 0 0 0 0.014758 0 5 15 ODZ1 10178 broad.mit.edu 37 X 123805551 123805551 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:123805551C>T uc004euj.2 - 6 1214 c.1150G>A c.(1150-1152)GAT>AAT p.D384N ODZ1_uc011muj.1_Missense_Mutation_p.D383N|ODZ1_uc010nqy.2_Missense_Mutation_p.D384N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 384 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TCTGATTTATCAGAAACTTTT 0.398 NaN 0 0 0 0.004482 0 9 55 ARHGAP36 158763 broad.mit.edu 37 X 130219951 130219951 + Missense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:130219951A>T uc004evz.2 + 9 1514 c.1169A>T c.(1168-1170)AAA>ATA p.K390I ARHGAP36_uc004ewa.2_Missense_Mutation_p.K378I|ARHGAP36_uc004ewb.2_Missense_Mutation_p.K359I|ARHGAP36_uc004ewc.2_Missense_Mutation_p.K254I NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 390 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CTCCTGAAAAAAGGAAAGTTT 0.468 NaN 0 0 0 0.02938 0 7 120 HCFC1 3054 broad.mit.edu 37 X 153225574 153225574 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:153225574C>T uc004fjp.2 - 8 1651 c.1123G>A c.(1123-1125)GCC>ACC p.A375T NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 375 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGGTGTTGGCGCGTACCAGT 0.617 NaN 0 0 0 0.004672 0 3 11 ABCA10 10349 broad.mit.edu 37 17 67183864 67183864 + Frame_Shift_Del DEL C C - TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:67183864delC uc010dfa.1 - 20 3167 c.2288delG c.(2287-2289)CGCfs p.R763fs ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Frame_Shift_Del_p.R364fs NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 763 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CTTTAAGAAGCGAAGTGTTGC 0.378 NaN NaN NaN NaN NaN NaN 7 118 --- --- CAPN13 92291 broad.mit.edu 37 2 30974059 30974059 + Frame_Shift_Del DEL G G - TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:30974059delG uc002rnn.2 - 11 1322 c.1146delC c.(1144-1146)ACCfs p.T382fs CAPN13_uc002rnp.1_Frame_Shift_Del_p.T382fs NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 382 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CGACAACATTGGTGCCTTCCA 0.468 NaN NaN NaN NaN NaN NaN 8 46 --- --- NFAM1 150372 broad.mit.edu 37 22 42828309 42828310 + Frame_Shift_Ins INS - - T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:42828309_42828310insT uc003bcn.3 - 1 92_93 c.54_55insA c.(52-57)CCTGGGfs p.P18fs NM_145912 NP_666017 Q8NET5 NFAM1_HUMAN NFAT activation molecule 1 precursor 18_19 B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity 0 GCGGGGAGCCCAGGAGGGCGTG 0.663 NaN NaN NaN NaN NaN NaN 2 4 --- ---