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 RNF207 388591 broad.mit.edu 37 1 6270478 6270478 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:6270478G>C uc001amg.2 + 10 1096 c.922G>C c.(922-924)GAG>CAG p.E308Q RNF207_uc001amh.2_Nonstop_Mutation_p.*196S|RNF207_uc010nzp.1_RNA NM_207396 NP_997279 Q6ZRF8 RN207_HUMAN ring finger protein 207 308 intracellular zinc ion binding 0 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CAACAAGGCTGAGTTCCTGGA 0.647 NaN 0 0 0 0.00308 0 6 109 APITD1 378708 broad.mit.edu 37 1 10500432 10500432 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:10500432G>A uc001are.2 + 4 654 c.238G>A c.(238-240)GAA>AAA p.E80K APITD1_uc001arf.2_Missense_Mutation_p.E80K|APITD1_uc001arg.2_Intron|APITD1_uc001arh.2_Missense_Mutation_p.E41K NM_199294 NP_954988 Q8N2Z9 CENPS_HUMAN apoptosis-inducing, TAF9-like domain 1 isoform 80 DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) AATTAACACTGAAGATGTGAA 0.393 NaN 0 0 0 0.001984 0 4 65 FBXO2 26232 broad.mit.edu 37 1 11708827 11708827 + Missense_Mutation SNP C C G rs149264736 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:11708827C>G uc001asj.2 - 6 1157 c.815G>C c.(814-816)GGG>GCG p.G272A FBXO2_uc009vna.2_Missense_Mutation_p.G275A NM_012168 NP_036300 Q9UK22 FBX2_HUMAN F-box only protein 2 272 FBA. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity 0 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) GTCCTGCCCCCCGTGCTCGAA 0.667 NaN 0 0 0 0.000978 0 9 127 TMEM82 388595 broad.mit.edu 37 1 16074093 16074093 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:16074093C>T uc001axc.2 + 6 1136 c.998C>T c.(997-999)TCG>TTG p.S333L NM_001013641 NP_001013663 A0PJX8 TMM82_HUMAN transmembrane protein 82 333 integral to membrane breast(1)|central_nervous_system(1) 2 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCCCTGCCCTCGGCACCCCAG 0.607 NaN 0 0 0 0.000602 0 5 134 CROCC 9696 broad.mit.edu 37 1 17265447 17265447 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:17265447C>G uc001azt.2 + 12 1487 c.1418C>G c.(1417-1419)TCT>TGT p.S473C CROCC_uc009voy.1_Missense_Mutation_p.S176C|CROCC_uc009voz.1_Missense_Mutation_p.S236C|CROCC_uc001azu.2_5'Flank NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 473 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CTGAGCGGCTCTGAGCGCACC 0.711 NaN 0 0 0 0.008291 0 6 109 PADI2 11240 broad.mit.edu 37 1 17410286 17410286 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:17410286C>G uc001baf.2 - 9 1067 c.985G>C c.(985-987)GAG>CAG p.E329Q PADI2_uc010ocm.1_Missense_Mutation_p.E213Q|PADI2_uc001bag.1_Missense_Mutation_p.E329Q NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 329 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TTGGTTTTCTCCACAAGGTTC 0.542 NaN 0 0 0 0.001855 0 11 124 TMEM57 55219 broad.mit.edu 37 1 25824881 25824881 + Missense_Mutation SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:25824881A>G uc001bkk.2 + 11 2121 c.1919A>G c.(1918-1920)TAC>TGC p.Y640C TMEM57_uc009vru.2_Missense_Mutation_p.Y413C|TMEM57_uc009vrv.2_Missense_Mutation_p.Y282C NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 640 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) TCCCCCCACTACTCTTCCAAA 0.542 NaN 0 0 0 0.007413 0 16 147 RCC1 1104 broad.mit.edu 37 1 28863401 28863401 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:28863401G>A uc001bqg.1 + 9 1165 c.1080G>A c.(1078-1080)GTG>GTA p.V360V SNHG3-RCC1_uc001bqa.1_Silent_p.V360V|SNHG3-RCC1_uc001bqb.1_Silent_p.V360V|SNHG3-RCC1_uc001bqc.1_Silent_p.V360V|RCC1_uc001bqe.1_Silent_p.V377V|RCC1_uc001bqf.1_Silent_p.V391V NM_001269 NP_001260 P18754 RCC1_HUMAN regulator of chromosome condensation 1 isoform 360 RCC1 6. cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GGTATGCTGTGACCAAGGATG 0.587 NaN 0 0 0 0.00333 0 21 344 INPP5B 3633 broad.mit.edu 37 1 38397639 38397639 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:38397639G>A uc001ccg.1 - 7 572 c.478C>T c.(478-480)CGC>TGC p.R160C INPP5B_uc009vvk.1_Missense_Mutation_p.R101C|INPP5B_uc001cch.2_Missense_Mutation_p.R101C|INPP5B_uc001ccf.1_5'Flank NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 160 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TTACAACCGCGCGGCGTTGGC 0.612 NaN 0 0 0 0.000602 0 5 101 MFSD2A 84879 broad.mit.edu 37 1 40432551 40432551 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:40432551G>A uc001cev.2 + 8 1094 c.913G>A c.(913-915)GGC>AGC p.G305S MFSD2A_uc010ojb.1_Missense_Mutation_p.G253S|MFSD2A_uc001ceu.2_Missense_Mutation_p.G292S|MFSD2A_uc010ojc.1_Missense_Mutation_p.G136S|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 305 transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 CATGAGCCACGGCCCATACAT 0.562 NaN 0 0 0 0.00245 0 12 188 CAP1 10487 broad.mit.edu 37 1 40536608 40536608 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:40536608C>T uc001cfa.3 + 12 1530 c.1301C>T c.(1300-1302)TCT>TTT p.S434F CAP1_uc001cey.3_Missense_Mutation_p.S434F|CAP1_uc001cez.3_Missense_Mutation_p.S434F|CAP1_uc009vvz.2_Missense_Mutation_p.S434F|CAP1_uc010oje.1_Missense_Mutation_p.S351F NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 434 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGTGCCAAATCTTCCGAGATG 0.408 NaN 0 0 0 0.001368 0 10 179 ZNF643 65243 broad.mit.edu 37 1 40928137 40928137 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:40928137G>C uc001cfn.1 + 5 778 c.481G>C c.(481-483)GAT>CAT p.D161H ZNF643_uc001cfl.1_Missense_Mutation_p.D59H|ZNF643_uc001cfm.1_Missense_Mutation_p.D27H NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) CTTACAGAATGATATTTCGTG 0.323 NaN 0 0 0 0.003163 0 15 162 B4GALT2 8704 broad.mit.edu 37 1 44450629 44450629 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:44450629C>T uc001clg.2 + 4 1012 c.642C>T c.(640-642)TTC>TTT p.F214F B4GALT2_uc001clh.2_Silent_p.F148F|B4GALT2_uc010okl.1_Silent_p.F243F|B4GALT2_uc001cli.2_Silent_p.F214F NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 214 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) GCTTCATCTTCAGCGATGTGG 0.587 NaN 0 0 0 0.001168 0 5 108 AKR1A1 10327 broad.mit.edu 37 1 46027485 46027485 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:46027485C>T uc001cod.2 + 3 483 c.19C>T c.(19-21)CTA>TTA p.L7L AKR1A1_uc009vxw.2_Silent_p.L7L|AKR1A1_uc001coe.2_Silent_p.L7L NM_006066 NP_006057 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 7 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) TTCCTGTGTTCTACTGCACAC 0.502 NaN 0 0 0 0.003163 0 10 129 POMGNT1 55624 broad.mit.edu 37 1 46661728 46661728 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:46661728C>T uc001cpe.2 - 5 540 c.376G>A c.(376-378)GAG>AAG p.E126K POMGNT1_uc010olx.1_Missense_Mutation_p.E104K|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_5'UTR|POMGNT1_uc001cpg.2_Missense_Mutation_p.E126K|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cpj.2_Missense_Mutation_p.E110K NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 126 Lumenal (Potential). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CGGCCCTGCTCCCGGGCCTCA 0.572 NaN 0 0 0 0.001168 0 6 90 LRRC41 10489 broad.mit.edu 37 1 46744891 46744891 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:46744891C>T uc001cpn.2 - 9 2226 c.2182G>A c.(2182-2184)GAG>AAG p.E728K LRRC41_uc010omb.1_3'UTR NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 728 LRR 6. ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) GATGAATCCTCTGAGAAAACA 0.542 NaN 0 0 0 0.00308 0 6 44 DMRTB1 63948 broad.mit.edu 37 1 53927289 53927289 + Missense_Mutation SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:53927289T>C uc001cvq.1 + 2 776 c.721T>C c.(721-723)TCC>CCC p.S241P NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 241 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CCGGCATGTGTCCCGCAGCCA 0.662 NaN 0 0 0 0.000602 0 4 73 LRRC7 57554 broad.mit.edu 37 1 70503871 70503871 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:70503871T>C uc001dep.2 + 19 2280 c.2250T>C c.(2248-2250)AAT>AAC p.N750N LRRC7_uc009wbg.2_Silent_p.N34N|LRRC7_uc001deq.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 750 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCCCAGGCAATATACCACAGC 0.502 NaN 0 0 0 0.007835 0 37 189 GBP5 115362 broad.mit.edu 37 1 89730587 89730587 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:89730587C>G uc001dnc.2 - 8 1468 c.931G>C c.(931-933)GAG>CAG p.E311Q GBP5_uc001dnd.2_Missense_Mutation_p.E311Q|GBP5_uc001dne.1_Missense_Mutation_p.E311Q NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 311 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) ACTGCATTCTCTATGCAAGGC 0.483 NaN 0 0 0 0.001855 0 10 78 EPHX4 253152 broad.mit.edu 37 1 92515897 92515897 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:92515897C>T uc001don.2 + 5 732 c.628C>T c.(628-630)CAG>TAG p.Q210* NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 210 integral to membrane hydrolase activity central_nervous_system(1) 1 ACACCCTGCTCAGCTGTTGAA 0.328 NaN 0 0 0 0.001168 0 6 104 MAGI3 260425 broad.mit.edu 37 1 114128166 114128166 + Silent SNP T T G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:114128166T>G uc001edk.2 + 4 892 c.711T>G c.(709-711)CCT>CCG p.P237P MAGI3_uc001edh.3_Silent_p.P237P|MAGI3_uc001edi.3_Silent_p.P237P|MAGI3_uc010owm.1_Silent_p.P237P NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 237 Guanylate kinase-like. 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) GCTCTCTTCCTGAAGAGGAAG 0.383 NaN 0 0 0 0.001368 0 11 57 TBX15 6913 broad.mit.edu 37 1 119427557 119427557 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:119427557C>T uc001ehl.1 - 8 1604 c.1289G>A c.(1288-1290)AGC>AAC p.S430N TBX15_uc009whj.1_Missense_Mutation_p.S254N NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 536 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TTGAGAGGCGCTCAGTTTTTC 0.522 NaN 0 0 0 0.000602 0 4 43 ANKRD35 148741 broad.mit.edu 37 1 145561190 145561190 + Missense_Mutation SNP C C T rs80055280 by1000genomes TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:145561190C>T uc001eob.1 + 10 986 c.878C>T c.(877-879)CCG>CTG p.P293L NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.P136L NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 293 ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GATGAAGACCCGTGCTCGGAG 0.547 NaN 0 0 0 0.001984 0 6 49 PLEKHO1 51177 broad.mit.edu 37 1 150131673 150131673 + Silent SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:150131673C>G uc001ett.2 + 6 1463 c.1185C>G c.(1183-1185)CTC>CTG p.L395L PLEKHO1_uc001etr.2_Silent_p.L223L|PLEKHO1_uc001ets.2_Silent_p.L212L|PLEKHO1_uc001etu.2_Silent_p.L223L NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 395 Negative regulator of AP-1 activity. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ACTCCCACCTCAGACAGACCA 0.587 NaN 0 0 0 0.008291 0 8 41 C1orf54 79630 broad.mit.edu 37 1 150248191 150248191 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:150248191G>C uc001eud.2 + 3 210 c.172G>C c.(172-174)GAG>CAG p.E58Q C1orf54_uc001euc.2_Missense_Mutation_p.E58Q|C1orf54_uc001eue.2_Missense_Mutation_p.E58Q|C1orf54_uc001euf.2_Missense_Mutation_p.E58Q|C1orf54_uc001eug.2_Missense_Mutation_p.E58Q NM_024579 NP_078855 Q8WWF1 CA054_HUMAN hypothetical protein LOC79630 precursor 58 extracellular region 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTCCATATTTGAGTCAGAGGA 0.294 NaN 0 0 0 0.008291 0 9 78 BNIPL 149428 broad.mit.edu 37 1 151015476 151015476 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:151015476G>A uc001ewl.2 + 5 651 c.478G>A c.(478-480)GAA>AAA p.E160K BNIPL_uc009wmi.2_Missense_Mutation_p.E78K|BNIPL_uc009wmj.2_RNA NM_138278 NP_612122 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein 160 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGAGACAGCTGAAAGGCTGGG 0.517 NaN 0 0 0 0.003163 0 14 169 BNIPL 149428 broad.mit.edu 37 1 151015532 151015532 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:151015532G>A uc001ewl.2 + 5 707 c.534G>A c.(532-534)TGG>TGA p.W178* BNIPL_uc009wmi.2_Nonsense_Mutation_p.W96*|BNIPL_uc009wmj.2_RNA NM_138278 NP_612122 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein 178 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GACATCACTGGAGGGTGTTCC 0.542 NaN 0 0 0 0.006214 0 7 113 BNIPL 149428 broad.mit.edu 37 1 151015865 151015865 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:151015865G>A uc001ewl.2 + 6 847 c.674G>A c.(673-675)AGA>AAA p.R225K BNIPL_uc009wmi.2_Missense_Mutation_p.R143K|BNIPL_uc009wmj.2_RNA NM_138278 NP_612122 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein 225 CRAL-TRIO. apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TATCTACCCAGAAGCAGCATC 0.463 NaN 0 0 0 0.008361 0 25 432 TMOD4 29765 broad.mit.edu 37 1 151147246 151147246 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:151147246G>T uc001exc.3 - 2 296 c.106C>A c.(106-108)CAG>AAG p.Q36K TMOD4_uc001exb.2_5'Flank|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.Q36K NM_013353 NP_037485 Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 36 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCATCTCCTGTAGTTCGCAG 0.532 NaN 1 0 0.00024832 0.009096 0.000257078 4 46 FLG 2312 broad.mit.edu 37 1 152282137 152282137 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:152282137G>T uc001ezu.1 - 3 5261 c.5225C>A c.(5224-5226)CCC>CAC p.P1742H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1742 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTGATGGGGCCCAGCCTG 0.587 NaN Ichthyosis 1 0 6.3237e-29 0.00361 7.04358e-29 50 456 FLG 2312 broad.mit.edu 37 1 152287154 152287154 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:152287154C>G uc001ezu.1 - 3 244 c.208G>C c.(208-210)GAC>CAC p.D70H uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 70 EF-hand 2.|Potential. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCAGTGAAGTCAATTTTCTTG 0.408 NaN Ichthyosis 0 0 0 0.001168 0 5 72 C1orf189 388701 broad.mit.edu 37 1 154173021 154173021 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:154173021C>T uc001fee.1 - 3 144 c.118G>A c.(118-120)GGC>AGC p.G40S NM_001010979 NP_001010979 Q5VU69 CA189_HUMAN hypothetical protein LOC388701 40 0 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CTTCTCTGGCCCAATGCCATT 0.507 NaN 0 0 0 0.006122 0 15 401 UBAP2L 9898 broad.mit.edu 37 1 154234112 154234112 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:154234112G>A uc001fep.3 + 24 3008 c.2841G>A c.(2839-2841)GTG>GTA p.V947V UBAP2L_uc009wot.2_Silent_p.V947V|UBAP2L_uc010pek.1_Silent_p.V939V|UBAP2L_uc010pel.1_Silent_p.V957V|UBAP2L_uc010pen.1_Silent_p.V861V|UBAP2L_uc001feq.2_Silent_p.V143V|UBAP2L_uc001fer.2_Silent_p.V143V NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 947 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ATGTCAGTGTGAATGCATCGG 0.512 NaN 0 0 0 0.006214 0 8 205 KCNN3 3782 broad.mit.edu 37 1 154698406 154698406 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:154698406G>A uc001ffp.2 - 5 2001 c.1687C>T c.(1687-1689)CAG>TAG p.Q563* KCNN3_uc001ffo.2_Nonsense_Mutation_p.Q258* NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 568 Calmodulin-binding (By similarity). integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TTGGTGAGCTGAGTGTCCATC 0.522 NaN 0 0 0 0.001855 0 10 54 ZBTB7B 51043 broad.mit.edu 37 1 154987500 154987500 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:154987500C>T uc001fgk.3 + 3 522 c.364C>T c.(364-366)CTC>TTC p.L122F ZBTB7B_uc009wpa.2_Missense_Mutation_p.L122F|ZBTB7B_uc001fgj.3_Missense_Mutation_p.L156F|ZBTB7B_uc010peq.1_Missense_Mutation_p.L156F|ZBTB7B_uc001fgl.3_Missense_Mutation_p.L122F NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 122 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCCAGCTGTGCTCCAGGCTGC 0.607 NaN 0 0 0 0.006214 0 6 67 NTRK1 4914 broad.mit.edu 37 1 156845889 156845889 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:156845889C>T uc001fqh.1 + 13 1575 c.1519C>T c.(1519-1521)CGC>TGC p.R507C NTRK1_uc001fqf.1_Missense_Mutation_p.R471C|NTRK1_uc009wsi.1_Missense_Mutation_p.R206C|NTRK1_uc001fqi.1_Missense_Mutation_p.R501C|NTRK1_uc009wsk.1_Missense_Mutation_p.R504C NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 507 Cytoplasmic (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCACATCAAGCGCCGGGACAT 0.602 NaN T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 0 0 0 0.006122 0 14 187 KIRREL 55243 broad.mit.edu 37 1 158063421 158063421 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:158063421G>C uc001frn.3 + 13 1992 c.1588G>C c.(1588-1590)GAC>CAC p.D530H KIRREL_uc010pib.1_Missense_Mutation_p.D430H|KIRREL_uc009wsq.2_Missense_Mutation_p.D366H|KIRREL_uc001fro.3_Missense_Mutation_p.D344H|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 530 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) AGGTCGCAAAGACGTGACCCT 0.607 NaN 0 0 0 0.009096 0 3 45 CD1E 913 broad.mit.edu 37 1 158325252 158325252 + Missense_Mutation SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:158325252A>G uc001fse.2 + 3 757 c.518A>G c.(517-519)AAT>AGT p.N173S CD1E_uc010pid.1_Missense_Mutation_p.N171S|CD1E_uc010pie.1_Missense_Mutation_p.N74S|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.N173S|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.N173S|CD1E_uc001fry.2_Missense_Mutation_p.N173S|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.N173S|CD1E_uc009wsv.2_Missense_Mutation_p.N74S|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 173 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) AAAGTGCTCAATCGCTACCTA 0.498 NaN 0 0 0 0.001168 0 5 72 OR6K3 391114 broad.mit.edu 37 1 158687408 158687408 + Silent SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:158687408C>A uc010pip.1 - 1 546 c.546G>T c.(544-546)CTG>CTT p.L182L NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CACAGAAAGGCAGTGTGGAAA 0.512 NaN 1 0 0.00198382 0.001984 0.0020327 7 114 BLZF1 8548 broad.mit.edu 37 1 169351299 169351299 + Splice_Site SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:169351299G>A uc001gfx.1 + 6 1235 c.798_splice c.e6-1 p.K266_splice BLZF1_uc001gfy.2_Splice_Site_p.K266_splice|BLZF1_uc009wvp.1_Intron NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) GTTCTATGCAGATTATTGGAG 0.358 NaN 0 0 0 0.010504 0 19 242 RASAL2 9462 broad.mit.edu 37 1 178423706 178423706 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:178423706G>C uc001glr.2 + 10 1815 c.1690G>C c.(1690-1692)GAT>CAT p.D564H RASAL2_uc001glq.2_Missense_Mutation_p.D712H|RASAL2_uc009wxc.2_Missense_Mutation_p.D78H NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 564 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 CCCAGGCTTTGATGGTTACAT 0.423 NaN 0 0 0 0.00308 0 8 89 HMCN1 83872 broad.mit.edu 37 1 186094827 186094827 + Silent SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:186094827A>G uc001grq.1 + 82 12820 c.12591A>G c.(12589-12591)ACA>ACG p.T4197T HMCN1_uc001grs.1_5'Flank NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4197 Ig-like C2-type 41. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAATCCCCACACCAGCAATTA 0.403 NaN 0 0 0 0.000978 0 7 100 CRB1 23418 broad.mit.edu 37 1 197390669 197390669 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:197390669G>A uc001gtz.2 + 6 1846 c.1711G>A c.(1711-1713)GAG>AAG p.E571K CRB1_uc010poz.1_Missense_Mutation_p.E502K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.E459K|CRB1_uc010ppb.1_Missense_Mutation_p.E571K|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.E52K|CRB1_uc001gub.1_Missense_Mutation_p.E220K NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 571 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GCATTTCGTGGAGGTAATATT 0.448 NaN 0 0 0 0.00308 0 6 159 DENND1B 163486 broad.mit.edu 37 1 197641247 197641247 + Silent SNP T T G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:197641247T>G uc001guf.3 - 5 554 c.216A>C c.(214-216)GTA>GTC p.V72V DENND1B_uc010ppe.1_Silent_p.V72V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.V62V NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 72 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 TGTCTGTCAGTACAAAGGTAA 0.358 NaN 0 0 0 0.000978 0 9 43 CACNA1S 779 broad.mit.edu 37 1 201061110 201061110 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:201061110C>T uc001gvv.2 - 4 758 c.531G>A c.(529-531)TCG>TCA p.S177S NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 177 Helical; Name=S4 of repeat I; (Potential).|I. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TAGGCACCCCCGACACCAGCC 0.612 NaN 0 0 0 0.00308 0 8 39 USH2A 7399 broad.mit.edu 37 1 215901707 215901707 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:215901707C>T uc001hku.1 - 61 12118 c.11731G>A c.(11731-11733)GAG>AAG p.E3911K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3911 Fibronectin type-III 24.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACAGACTCCTCTTCAATGCCA 0.448 NaN HNSCC(13;0.011) 0 0 0 0.009096 0 4 47 BPNT1 10380 broad.mit.edu 37 1 220240712 220240712 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:220240712G>C uc001hma.2 - 6 578 c.406C>G c.(406-408)CTT>GTT p.L136V BPNT1_uc010pug.1_Missense_Mutation_p.L81V|BPNT1_uc010puh.1_Missense_Mutation_p.L100V|BPNT1_uc001hmb.3_Missense_Mutation_p.L136V NM_006085 NP_006076 O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 136 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0558) ATTCCAATAAGAACTGTTACA 0.308 NaN 0 0 0 0.001168 0 6 92 CAPN2 824 broad.mit.edu 37 1 223959545 223959545 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:223959545C>T uc001hob.3 + 19 2162 c.1938C>T c.(1936-1938)ATC>ATT p.I646I CAPN2_uc010puy.1_Silent_p.I568I|CAPN2_uc001hoc.2_Silent_p.I227I NM_001748 NP_001739 P17655 CAN2_HUMAN calpain 2 isoform 1 646 Domain IV. proteolysis cytoplasm|plasma membrane lung(3)|breast(1)|skin(1) 5 GBM - Glioblastoma multiforme(131;0.109) ACCAAGTCATCGTTGCTCGGT 0.428 NaN 0 0 0 0.00499 0 16 221 TMEM63A 9725 broad.mit.edu 37 1 226034879 226034879 + Silent SNP C C T rs138912199 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:226034879C>T uc001hpm.1 - 24 2536 c.2286G>A c.(2284-2286)TCG>TCA p.S762S NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 762 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) CTGTCCTCTCCGAGGCCAAGC 0.597 NaN 0 0 0 0.004007 0 12 198 PARP1 142 broad.mit.edu 37 1 226564877 226564877 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:226564877C>T uc001hqd.3 - 13 2044 c.1873G>A c.(1873-1875)GCT>ACT p.A625T NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 625 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GAGTGCCAAGCGTTCCCGGTT 0.458 NaN Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 0 0 0 0.00361 0 84 241 CDC42BPA 8476 broad.mit.edu 37 1 227261689 227261689 + Missense_Mutation SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:227261689A>G uc001hqr.2 - 19 3554 c.2611T>C c.(2611-2613)TTT>CTT p.F871L CDC42BPA_uc001hqq.2_Missense_Mutation_p.F135L|CDC42BPA_uc001hqs.2_Missense_Mutation_p.F790L|CDC42BPA_uc009xes.2_Missense_Mutation_p.F871L|CDC42BPA_uc010pvs.1_Missense_Mutation_p.F871L|CDC42BPA_uc001hqp.2_Missense_Mutation_p.F27L|CDC42BPA_uc001hqu.1_Missense_Mutation_p.F27L NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 871 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) AGTTTCGCAAAACGACGCATT 0.378 NaN 0 0 0 0.00245 0 10 221 NID1 4811 broad.mit.edu 37 1 236180524 236180524 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:236180524G>A uc001hxo.2 - 10 2280 c.2178C>T c.(2176-2178)ATC>ATT p.I726I NID1_uc009xgd.2_Intron NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 726 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GATTATTGCAGATTGTGTGGC 0.438 NaN 0 0 0 0.000978 0 9 208 ZP4 57829 broad.mit.edu 37 1 238049174 238049174 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:238049174G>A uc001hym.2 - 7 852 c.852C>T c.(850-852)AGC>AGT p.S284S LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 284 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGTAGCTGCAGCTGACATGGA 0.478 NaN 0 0 0 0.000602 0 5 68 FMN2 56776 broad.mit.edu 37 1 240370862 240370862 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:240370862G>A uc010pyd.1 + 5 2975 c.2750G>A c.(2749-2751)GGA>GAA p.G917E FMN2_uc010pye.1_Missense_Mutation_p.G921E NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 917 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCTCTTCCCGGAGCGGGCATA 0.657 NaN 0 0 0 0.008871 0 14 291 OR13G1 441933 broad.mit.edu 37 1 247836307 247836307 + Missense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:247836307C>A uc001idi.1 - 1 37 c.37G>T c.(37-39)GGC>TGC p.G13C NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTGGTGAGGCCCAGAATAATG 0.413 NaN 1 0 1.01871e-10 0.008871 1.11723e-10 14 78 OR6F1 343169 broad.mit.edu 37 1 247875997 247875997 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:247875997G>C uc001idj.1 - 1 61 c.61C>G c.(61-63)CAA>GAA p.Q21E NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGAAGAGTTTGAGAACCAGGA 0.473 NaN 0 0 0 0.008871 0 16 207 OR2T33 391195 broad.mit.edu 37 1 248436919 248436919 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:248436919G>A uc010pzi.1 - 1 198 c.198C>T c.(196-198)CTC>CTT p.L66L NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCATGTCCATGAGGGAAAGTT 0.547 NaN 0 0 0 0.000978 0 10 198 OR2G6 391211 broad.mit.edu 37 1 248685808 248685808 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:248685808C>T uc001ien.1 + 1 861 c.861C>T c.(859-861)CCC>CCT p.P287P NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTTAAACCCCATTATCTACA 0.448 NaN 0 0 0 0.004007 0 15 45 GDI2 2665 broad.mit.edu 37 10 5808246 5808246 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:5808246G>A uc001iil.3 - 10 1440 c.1149C>T c.(1147-1149)ATC>ATT p.I383I GDI2_uc001iim.3_Silent_p.I338I|GDI2_uc009xid.2_Silent_p.I387I NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 383 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 GGAGGTCACTGATGCTAACAA 0.502 NaN 0 0 0 0.001168 0 5 93 UPF2 26019 broad.mit.edu 37 10 11994119 11994119 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:11994119C>T uc001ila.2 - 14 3454 c.2980G>A c.(2980-2982)GAA>AAA p.E994K UPF2_uc001ilb.2_Missense_Mutation_p.E994K|UPF2_uc001ilc.2_Missense_Mutation_p.E994K|UPF2_uc009xiz.1_Missense_Mutation_p.E994K NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 994 Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) ATGGATTCTTCCAGAGAATTA 0.368 NaN 0 0 0 0.005443 0 20 198 MCM10 55388 broad.mit.edu 37 10 13225054 13225055 + Missense_Mutation DNP GG GG AA TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:13225054_13225055GG>AA uc001ima.2 + 8 1156_1157 c.1055_1056GG>AA c.(1054-1056)GGG>GAA p.G352E MCM10_uc001imb.2_Missense_Mutation_p.G351E|MCM10_uc001imc.2_Missense_Mutation_p.G351E NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 352 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 ACTGTCGTAGGGATCCTCAATG 0.46 NaN 0 0 0 0.004672 0 14 122 C10orf111 221060 broad.mit.edu 37 10 15138479 15138479 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:15138479C>G uc001inw.2 - 2 619 c.345G>C c.(343-345)ATG>ATC p.M115I RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank NM_153244 NP_694976 Q8N326 CJ111_HUMAN hypothetical protein LOC221060 115 Helical; (Potential). integral to membrane 0 GGAGGAGGCTCATTAGGTCAG 0.488 NaN 0 0 0 0.000602 0 4 65 PIP4K2A 5305 broad.mit.edu 37 10 22830755 22830755 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:22830755G>C uc001irl.3 - 8 1262 c.1014C>G c.(1012-1014)GTC>GTG p.V338V PIP4K2A_uc010qcu.1_Silent_p.V198V NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 338 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 TAATTCCATAGACGTCGATGT 0.517 NaN 0 0 0 0.004482 0 6 88 GPR158 57512 broad.mit.edu 37 10 25464659 25464659 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:25464659G>C uc001isj.2 + 1 370 c.310G>C c.(310-312)GAG>CAG p.E104Q LOC100128811_uc010qde.1_Missense_Mutation_p.S98W NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 104 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CGGCCGCTACGAGTTGGCGGG 0.677 NaN 0 0 0 0.004482 0 5 81 APBB1IP 54518 broad.mit.edu 37 10 26800720 26800720 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:26800720G>A uc001iss.2 + 7 897 c.576G>A c.(574-576)CTG>CTA p.L192L APBB1IP_uc009xks.1_Silent_p.L192L NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 192 Ras-associating. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CAAAGTCACTGATGGTGGATG 0.473 NaN 0 0 0 0.00308 0 6 127 YME1L1 10730 broad.mit.edu 37 10 27423784 27423784 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:27423784G>A uc001iti.2 - 7 1020 c.838C>T c.(838-840)CAA>TAA p.Q280* YME1L1_uc001itj.2_Nonsense_Mutation_p.Q223*|YME1L1_uc010qdl.1_Nonsense_Mutation_p.Q190*|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 280 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 GTGAGTGCTTGAGCTTTCAGA 0.368 NaN 0 0 0 0.00308 0 6 92 CUL2 8453 broad.mit.edu 37 10 35317752 35317752 + Nonsense_Mutation SNP T T A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:35317752T>A uc001ixv.2 - 16 1813 c.1603A>T c.(1603-1605)AAA>TAA p.K535* CUL2_uc009xma.2_Nonsense_Mutation_p.K404*|CUL2_uc010qer.1_Nonsense_Mutation_p.K554*|CUL2_uc001ixw.2_Nonsense_Mutation_p.K535*|CUL2_uc010qes.1_Nonsense_Mutation_p.K472* NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 535 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 TGTACACTTTTTTCTAATTCC 0.323 NaN 0 0 0 0.004672 0 3 39 BMS1 9790 broad.mit.edu 37 10 43293936 43293936 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:43293936G>C uc001jaj.2 + 12 2468 c.2110G>C c.(2110-2112)GAA>CAA p.E704Q NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 704 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TAATGAAGAAGAAGATGATGA 0.438 NaN 0 0 0 0.004482 0 7 75 VDAC2 7417 broad.mit.edu 37 10 76982062 76982062 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:76982062C>T uc001jwz.2 + 8 796 c.637C>T c.(637-639)CTT>TTT p.L213F VDAC2_uc010qld.1_Missense_Mutation_p.L174F|VDAC2_uc001jxa.2_Missense_Mutation_p.L228F|VDAC2_uc010qle.1_Missense_Mutation_p.L174F NM_003375 NP_003366 P45880 VDAC2_HUMAN voltage-dependent anion channel 2 213 Beta stranded; (By similarity). mitochondrial nucleoid|mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) TTGTGAAGATCTTGACACTTC 0.358 NaN 0 0 0 0.000978 0 9 97 ATRNL1 26033 broad.mit.edu 37 10 117040926 117040926 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:117040926G>T uc001lcg.2 + 14 2548 c.2162G>T c.(2161-2163)AGC>ATC p.S721I NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 721 PSI 3.|Extracellular (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) AAACTTACCAGCTGTAAAAGC 0.353 NaN 1 0 2.31682e-05 0.003163 2.44935e-05 11 66 EBF3 253738 broad.mit.edu 37 10 131671831 131671831 + Silent SNP G G A rs147554322 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr10:131671831G>A uc001lki.1 - 8 725 c.666C>T c.(664-666)GAC>GAT p.D222D NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 222 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCACGTGGCCGTCCACGTTGA 0.522 NaN 0 0 0 0.004672 0 3 48 MUC5B 727897 broad.mit.edu 37 11 1154305 1154305 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:1154305G>A uc009ycr.1 + 3 277 c.151G>A c.(151-153)GGG>AGG p.G51R NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGGCCCAGCGGTGAGTCTGA 0.667 NaN 0 0 0 0.00308 0 6 26 MUC5B 727897 broad.mit.edu 37 11 1263825 1263825 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:1263825G>C uc009ycr.1 + 47 7920 c.7794G>C c.(7792-7794)TGG>TGC p.W2598C MUC5B_uc001ltb.2_Missense_Mutation_p.W1908C NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1905 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGACGACCTGGATCCTCACAA 0.637 NaN 0 0 0 0.006122 0 14 209 KCNQ1 3784 broad.mit.edu 37 11 2610039 2610039 + Missense_Mutation SNP G G C rs148266527 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:2610039G>C uc001lwn.2 + 10 1456 c.1348G>C c.(1348-1350)GAG>CAG p.E450Q KCNQ1_uc009ydp.1_Missense_Mutation_p.E234Q|KCNQ1_uc001lwo.2_Missense_Mutation_p.E323Q NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 450 Cytoplasmic (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CCCCCCAGAAGAGCGGCGGCT 0.562 NaN 0 0 0 0.000602 0 4 15 OR56A4 120793 broad.mit.edu 37 11 6023979 6023979 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:6023979G>C uc010qzv.1 - 1 400 c.400C>G c.(400-402)CCC>GCC p.P134A NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGACCTTGGGGATGACGGTG 0.567 NaN 0 0 0 0.001855 0 11 94 OR10A6 390093 broad.mit.edu 37 11 7950137 7950137 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:7950137C>G uc010rbh.1 - 1 73 c.73G>C c.(73-75)GGG>CGG p.G25R NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAGAGCTGCCCCTGGAGCTCA 0.438 NaN 0 0 0 0.009096 0 4 89 SBF2 81846 broad.mit.edu 37 11 9851008 9851008 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:9851008C>T uc001mib.2 - 28 3826 c.3688G>A c.(3688-3690)GAA>AAA p.E1230K NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1230 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TTCTCTTGTTCTATGCTACTG 0.368 NaN 0 0 0 0.001984 0 5 93 NAV2 89797 broad.mit.edu 37 11 20113769 20113769 + Silent SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:20113769G>T uc001mpr.3 + 28 6040 c.5679G>T c.(5677-5679)CTG>CTT p.L1893L NAV2_uc001mpp.2_Silent_p.L1826L|NAV2_uc009yhx.2_Silent_p.L954L|NAV2_uc009yhz.2_Silent_p.L535L|NAV2_uc001mpu.2_Silent_p.L328L NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 1949 Potential. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TAGAGAAGCTGAAAGCTGAGA 0.498 NaN 1 0 0.00198382 0.001984 0.0020327 6 91 NAV2 89797 broad.mit.edu 37 11 20113776 20113776 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:20113776G>A uc001mpr.3 + 28 6047 c.5686G>A c.(5686-5688)GAG>AAG p.E1896K NAV2_uc001mpp.2_Missense_Mutation_p.E1829K|NAV2_uc009yhx.2_Missense_Mutation_p.E957K|NAV2_uc009yhz.2_Missense_Mutation_p.E538K|NAV2_uc001mpu.2_Missense_Mutation_p.E331K NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 1952 Potential. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GCTGAAAGCTGAGAATGATCG 0.507 NaN 0 0 0 0.00308 0 6 97 DCDC1 341019 broad.mit.edu 37 11 31329201 31329201 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:31329201G>A uc001msv.2 - 4 621 c.419C>T c.(418-420)CCA>CTA p.P140L DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 140 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TTGACCCACTGGAGCACTGAC 0.358 NaN 0 0 0 0.003163 0 12 95 COMMD9 29099 broad.mit.edu 37 11 36297736 36297736 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:36297736G>A uc001mwn.3 - 5 444 c.407C>T c.(406-408)TCA>TTA p.S136L COMMD9_uc009ykj.2_Missense_Mutation_p.S94L|COMMD9_uc009yki.1_5'Flank NM_014186 NP_054905 Q9P000 COMD9_HUMAN COMM domain containing 9 isoform 1 136 COMM. ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) GATGCTGTCTGAGGAGGTTTT 0.552 NaN 0 0 0 0.001168 0 5 92 TSPAN18 90139 broad.mit.edu 37 11 44948255 44948255 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:44948255G>A uc001mye.3 + 7 807 c.646G>A c.(646-648)GAG>AAG p.E216K TP53I11_uc001myf.1_Intron|TSPAN18_uc001myg.2_Missense_Mutation_p.E216K NM_130783 NP_570139 Q96SJ8 TSN18_HUMAN tetraspanin 18 isoform 2 216 Extracellular (Potential). integral to membrane 0 CAACACCTTCGAGACCTACGT 0.592 NaN OREG0020922 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00333 0 19 252 OR5T3 390154 broad.mit.edu 37 11 56020432 56020432 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:56020432T>C uc010rjd.1 + 1 757 c.757T>C c.(757-759)TTG>CTG p.L253L NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 253 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TTTCATTCTGTTGTCCATTCT 0.413 NaN 0 0 0 0.004007 0 14 184 TNKS1BP1 85456 broad.mit.edu 37 11 57076793 57076793 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:57076793C>G uc001njr.2 - 5 3704 c.3392G>C c.(3391-3393)AGA>ACA p.R1131T TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1131T|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R582T NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1131 Gly-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) ACCACTCACTCTGTCGTTGCC 0.577 NaN 0 0 0 0.00499 0 13 144 SLC43A1 8501 broad.mit.edu 37 11 57259332 57259332 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:57259332G>A uc001nkk.2 - 9 993 c.875C>T c.(874-876)TCT>TTT p.S292F SLC43A1_uc001nkl.2_Missense_Mutation_p.S292F NM_003627 NP_003618 O75387 LAT3_HUMAN solute carrier family 43, member 1 292 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity 0 TAAGGGGACAGACCCTGGGGA 0.607 NaN OREG0020651 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 37 OR6Q1 219952 broad.mit.edu 37 11 57799186 57799186 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:57799186C>T uc010rjz.1 + 1 762 c.762C>T c.(760-762)CTC>CTT p.L254L OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) TGGTGAGCCTCTTCTATGGCA 0.522 NaN 0 0 0 0.00333 0 18 128 FAM111B 374393 broad.mit.edu 37 11 58893123 58893123 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:58893123C>G uc001nnl.2 + 4 1796 c.1553C>G c.(1552-1554)ACT>AGT p.T518S FAM111B_uc001nnm.2_Missense_Mutation_p.T488S|FAM111B_uc010rko.1_Missense_Mutation_p.T488S NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 518 catalytic activity ovary(2) 2 GTAACCTTCACTTATACAGAG 0.373 NaN 0 0 0 0.004007 0 13 147 CDC42BPG 55561 broad.mit.edu 37 11 64595223 64595223 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:64595223C>T uc001obs.3 - 31 4000 c.4000G>A c.(4000-4002)GAG>AAG p.E1334K NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1334 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 ATGGAGTTCTCGCTGAACACT 0.637 NaN 0 0 0 0.004482 0 7 84 LTBP3 4054 broad.mit.edu 37 11 65318916 65318916 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:65318916C>T uc001oej.2 - 10 1847 c.1578G>A c.(1576-1578)CAG>CAA p.Q526Q LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Silent_p.Q409Q|LTBP3_uc001oei.2_Silent_p.Q526Q|LTBP3_uc010roj.1_Silent_p.Q227Q|LTBP3_uc010rok.1_Silent_p.Q437Q NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 526 extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 TTGGGTGGCTCTGCTGCACTG 0.652 NaN 0 0 0 0.001168 0 5 55 TMEM151A 256472 broad.mit.edu 37 11 66063113 66063113 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:66063113G>A uc001ohl.2 + 2 1508 c.1396G>A c.(1396-1398)GGT>AGT p.G466S NM_153266 NP_694998 Q8N4L1 T151A_HUMAN transmembrane protein 151A 466 integral to membrane central_nervous_system(1) 1 GGATGGGCAGGGTGCTCTCTG 0.652 NaN 0 0 0 0.001984 0 5 27 ZDHHC24 254359 broad.mit.edu 37 11 66313210 66313210 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:66313210G>A uc001oin.1 - 1 462 c.265C>T c.(265-267)CTG>TTG p.L89L ACTN3_uc010rpi.1_5'Flank|ACTN3_uc001oio.1_5'Flank|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_Silent_p.L89L NM_207340 NP_997223 Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 89 integral to membrane acyltransferase activity|zinc ion binding 0 CCCTGGCCCAGACCGCGGCCG 0.701 NaN 0 0 0 0.004672 0 3 14 RNF169 254225 broad.mit.edu 37 11 74545750 74545750 + Missense_Mutation SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:74545750A>G uc001ovl.3 + 5 885 c.872A>G c.(871-873)CAG>CGG p.Q291R XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN ring finger protein 169 291 zinc ion binding ovary(1) 1 GAAAGGAGTCAGAGCTGTAGT 0.443 NaN 0 0 0 0.009096 0 4 58 SLCO2B1 11309 broad.mit.edu 37 11 74873787 74873787 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:74873787C>T uc001owb.2 + 2 491 c.104C>T c.(103-105)CCA>CTA p.P35L SLCO2B1_uc010rrp.1_RNA|SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Intron|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.P13L NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 35 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) AAAGCCAGCCCAGACCCTCAG 0.547 NaN 0 0 0 0.001368 0 12 147 NCAM1 4684 broad.mit.edu 37 11 113130955 113130955 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:113130955G>A uc001pns.2 + 2 213 c.181G>A c.(181-183)GAG>AAG p.E61K P13591 NCAM1_HUMAN SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform; 681 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TGCTGAGTATGAGGTCTACGT 0.567 NaN 0 0 0 0.006214 0 8 88 USP2 9099 broad.mit.edu 37 11 119244114 119244114 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:119244114C>T uc001pwm.3 - 2 372 c.77G>A c.(76-78)GGC>GAC p.G26D USP2_uc001pwn.3_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a 26 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GGCACCATAGCCCGACTTGGC 0.597 NaN 0 0 0 0.001168 0 5 35 ARHGEF12 23365 broad.mit.edu 37 11 120312861 120312861 + Missense_Mutation SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:120312861A>G uc001pxl.1 + 15 1259 c.1252A>G c.(1252-1254)ACT>GCT p.T418A ARHGEF12_uc009zat.2_Missense_Mutation_p.T399A|ARHGEF12_uc010rzn.1_Missense_Mutation_p.T315A|ARHGEF12_uc009zau.1_Missense_Mutation_p.T315A NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 418 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TTCCAAAGAAACTCGTCGCAT 0.358 NaN T MLL AML 0 0 0 0.009096 0 4 50 SORL1 6653 broad.mit.edu 37 11 121414362 121414362 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:121414362C>T uc001pxx.2 + 13 1871 c.1791C>T c.(1789-1791)TTC>TTT p.F597F NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 597 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCACTGTCTTCACCATCTTTG 0.512 NaN 0 0 0 0.006214 0 7 185 SORL1 6653 broad.mit.edu 37 11 121414368 121414368 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:121414368C>G uc001pxx.2 + 13 1877 c.1797C>G c.(1795-1797)ATC>ATG p.I599M NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 599 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TCTTCACCATCTTTGGCTCGA 0.512 NaN 0 0 0 0.00308 0 7 181 ADIPOR2 79602 broad.mit.edu 37 12 1895205 1895205 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:1895205C>T uc001qjm.2 + 8 1325 c.1128C>T c.(1126-1128)ATC>ATT p.I376I ADIPOR2_uc001qjn.2_Silent_p.I376I NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 376 Extracellular (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) GTTTCATGATCGGCGGGGGCT 0.532 NaN 0 0 0 0.001984 0 7 117 PRMT8 56341 broad.mit.edu 37 12 3692332 3692332 + Missense_Mutation SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:3692332A>G uc001qmf.2 + 8 1304 c.937A>G c.(937-939)ATT>GTT p.I313V PRMT8_uc009zed.2_Missense_Mutation_p.I304V|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.I127V NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 313 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CTATTTTAATATTGAATTTAC 0.478 NaN 0 0 0 0.000602 0 4 20 CLSTN3 9746 broad.mit.edu 37 12 7290563 7290563 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:7290563C>G uc001qsr.2 + 8 1501 c.1223C>G c.(1222-1224)TCT>TGT p.S408C CLSTN3_uc001qss.2_Missense_Mutation_p.S420C NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 408 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 GACGGCTTCTCTCACTACTCG 0.577 NaN 0 0 0 0.006122 0 15 105 SLCO1B3 28234 broad.mit.edu 37 12 21036424 21036424 + Missense_Mutation SNP T T A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:21036424T>A uc001rek.2 + 12 1696 c.1570T>A c.(1570-1572)TGC>AGC p.C524S SLCO1B3_uc001rel.2_Missense_Mutation_p.C524S|SLCO1B3_uc010sil.1_Missense_Mutation_p.C524S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.C349S NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 524 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) CTTGGGTGAATGCCCAAGAGA 0.338 NaN 0 0 0 0.001984 0 5 79 DDX11 1663 broad.mit.edu 37 12 31242861 31242861 + Silent SNP A A C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:31242861A>C uc001rjt.1 + 9 1173 c.922A>C c.(922-924)AGG>CGG p.R308R DDX11_uc010sjw.1_3'UTR|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.R308R|DDX11_uc001rjs.1_Silent_p.R308R|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.R308R|DDX11_uc001rjw.1_Silent_p.R282R|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 308 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) AAAGAGGAGGAGGCAGGAGAA 0.587 NaN Multiple Myeloma(12;0.14) 0 0 0 0.001984 0 3 14 LRRK2 120892 broad.mit.edu 37 12 40631899 40631899 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:40631899G>A uc001rmg.3 + 5 686 c.565G>A c.(565-567)GAG>AAG p.E189K NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 189 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGTGCTGTTTGAGAGAGGTAT 0.318 NaN 0 0 0 0.004482 0 8 59 ARID2 196528 broad.mit.edu 37 12 46230554 46230554 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:46230554C>T uc001ros.1 + 8 803 c.803C>T c.(802-804)TCT>TTT p.S268F ARID2_uc001ror.2_Missense_Mutation_p.S268F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 268 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATTTGGGAGTCTTTATTTCAT 0.348 NaN 0 0 0 0.00308 0 7 74 ARID2 196528 broad.mit.edu 37 12 46298835 46298835 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:46298835G>C uc001ros.1 + 21 5482 c.5482G>C c.(5482-5484)GAA>CAA p.E1828Q ARID2_uc009zkg.1_Missense_Mutation_p.E1284Q|ARID2_uc009zkh.1_Missense_Mutation_p.E1455Q|ARID2_uc001rou.1_3'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1828 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TAAGGAACAAGAAAAAGACTC 0.388 NaN 0 0 0 0.009096 0 3 34 C12orf41 54934 broad.mit.edu 37 12 49054188 49054188 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:49054188C>T uc001rrx.2 - 8 1263 c.1188G>A c.(1186-1188)GAG>GAA p.E396E C12orf41_uc001rrw.2_Intron|C12orf41_uc001rrz.2_Silent_p.E579E|C12orf41_uc001rry.2_Intron|C12orf41_uc001rru.2_Silent_p.E27E|C12orf41_uc001rrv.2_Intron NM_017822 NP_060292 Q9H9L4 CL041_HUMAN hypothetical protein LOC54934 396 ovary(2) 2 TGGGCTGAAGCTCAGCAGCAC 0.493 NaN 0 0 0 0.001168 0 5 35 MLL2 8085 broad.mit.edu 37 12 49445757 49445757 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:49445757G>C uc001rta.3 - 10 1709 c.1709C>G c.(1708-1710)TCT>TGT p.S570C NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 570 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGACAGGCGAGATGCTTCAGG 0.592 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.001368 0 12 151 LARP4 113251 broad.mit.edu 37 12 50829320 50829320 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:50829320C>T uc001rwp.1 + 5 592 c.448C>T c.(448-450)CAG>TAG p.Q150* LARP4_uc001rwo.1_Nonsense_Mutation_p.Q156*|LARP4_uc001rwq.1_Nonsense_Mutation_p.Q150*|LARP4_uc001rwr.1_Nonsense_Mutation_p.Q150*|LARP4_uc001rws.1_Nonsense_Mutation_p.Q149*|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Nonsense_Mutation_p.Q150*|LARP4_uc001rwn.2_Nonsense_Mutation_p.Q80* NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 150 HTH La-type RNA-binding. nucleotide binding|RNA binding ovary(1) 1 GGATAGTGATCAGTTCATCCC 0.299 NaN 0 0 0 0.00308 0 5 47 TFCP2 7024 broad.mit.edu 37 12 51500367 51500367 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:51500367G>A uc001rxw.2 - 8 1317 c.858C>T c.(856-858)GTC>GTT p.V286V TFCP2_uc001rxv.1_Silent_p.V286V|TFCP2_uc009zlx.1_Silent_p.V235V|TFCP2_uc001rxx.2_Silent_p.V286V|TFCP2_uc009zly.1_Silent_p.V188V NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 286 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGGAGTTATTGACATACGTGA 0.398 NaN 0 0 0 0.001984 0 5 55 KRT72 140807 broad.mit.edu 37 12 52984645 52984645 + Nonsense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:52984645G>C uc001sar.2 - 6 1150 c.1064C>G c.(1063-1065)TCA>TGA p.S355* KRT72_uc001saq.2_Nonsense_Mutation_p.S355*|KRT72_uc010sns.1_Intron|KRT72_uc010snt.1_Nonsense_Mutation_p.S167* NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 355 Coil 2.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) CCCTATCTCTGAGCGGATCCT 0.488 NaN 0 0 0 0.00245 0 12 98 RARG 5916 broad.mit.edu 37 12 53605514 53605514 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:53605514G>C uc001sce.2 - 10 1796 c.1311C>G c.(1309-1311)AGC>AGG p.S437R RARG_uc001scd.2_Missense_Mutation_p.S426R|RARG_uc010sob.1_Missense_Mutation_p.S415R|RARG_uc001scf.2_Missense_Mutation_p.S437R|RARG_uc001scg.2_Missense_Mutation_p.S365R|RARG_uc010soc.1_Missense_Mutation_p.S316R NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 437 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) CCTCATCCTCGCTAGAGGCAT 0.637 NaN 0 0 0 0.004672 0 3 23 ATF7 11016 broad.mit.edu 37 12 53994749 53994749 + Silent SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:53994749C>A uc001sdy.2 - 1 57 c.36G>T c.(34-36)CCG>CCT p.P12P ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Silent_p.P12P|ATF7_uc010sol.1_Silent_p.P12P|ATF7_uc001sea.3_Silent_p.P12P|ATF7_uc001seb.3_Silent_p.P12P NM_001130059 NP_001123531 P17544 ATF7_HUMAN activating transcription factor 7 isoform 1 12 C2H2-type.|Transactivation domain. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 GTCCACAGCCCGGGGCATTGC 0.433 NaN 1 0 0.00198382 0.001984 0.0020327 5 38 ZBTB39 9880 broad.mit.edu 37 12 57398642 57398642 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:57398642G>C uc001sml.1 - 2 146 c.60C>G c.(58-60)CTC>CTG p.L20L RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GGCACTTGTTGAGTTCCTTCA 0.557 NaN 0 0 0 0.008291 0 9 206 NUP107 57122 broad.mit.edu 37 12 69121157 69121157 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:69121157G>C uc001suf.2 + 20 1837 c.1722G>C c.(1720-1722)AAG>AAC p.K574N NUP107_uc001sug.2_Missense_Mutation_p.K421N|NUP107_uc010stj.1_Missense_Mutation_p.K545N NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 574 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AAGTTTTAAAGACATACATAC 0.269 NaN 0 0 0 0.000602 0 4 83 LGR5 8549 broad.mit.edu 37 12 71960693 71960693 + Splice_Site SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:71960693G>A uc001swl.2 + 11 1118 c.1070_splice c.e11+1 p.L357_splice LGR5_uc001swm.2_Splice_Site_p.L333_splice|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 TCCAAGTGCTGTGCGTATCAG 0.393 NaN 0 0 0 0.001984 0 6 89 EEA1 8411 broad.mit.edu 37 12 93226360 93226360 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:93226360C>G uc001tck.2 - 11 1447 c.1182G>C c.(1180-1182)GAG>GAC p.E394D NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 394 Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 GCTGCTTAAACTCCGCCTTTA 0.358 NaN 0 0 0 0.000978 0 9 201 FGD6 55785 broad.mit.edu 37 12 95566467 95566467 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:95566467G>A uc001tdp.3 - 3 2719 c.2495C>T c.(2494-2496)TCT>TTT p.S832F FGD6_uc009zsx.2_5'UTR NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 832 S -> P (in Ref. 3; CAD98096). actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 CTCCTCATCAGAGGGAAGGTC 0.433 NaN 0 0 0 0.000978 0 10 163 NUAK1 9891 broad.mit.edu 37 12 106500216 106500216 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:106500216G>C uc001tlj.1 - 2 1708 c.328C>G c.(328-330)CTC>GTC p.L110V NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 110 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 GGATGGTTGAGAGATGACATG 0.373 NaN 0 0 0 0.009096 0 3 33 IFT81 28981 broad.mit.edu 37 12 110641690 110641690 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr12:110641690G>C uc001tqi.2 + 15 1709 c.1579G>C c.(1579-1581)GAA>CAA p.E527Q IFT81_uc001tqh.2_Missense_Mutation_p.E527Q|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 527 Potential. cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 ggagtgtgatgaaaagaaatc 0.194 NaN 0 0 0 0.004482 0 9 36 XPO4 64328 broad.mit.edu 37 13 21442787 21442787 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:21442787G>C uc001unq.3 - 2 159 c.123C>G c.(121-123)TTC>TTG p.F41L XPO4_uc010tcr.1_Intron NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 41 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TAAATGATAAGAATATGTGCT 0.338 NaN 0 0 0 0.004482 0 7 195 PARP4 143 broad.mit.edu 37 13 25008866 25008866 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:25008866C>T uc001upl.2 - 31 4519 c.4413G>A c.(4411-4413)TTG>TTA p.L1471L NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1471 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GGTTGGCAGTCAAAGAGGCTG 0.493 NaN 0 0 0 0.004482 0 8 18 RXFP2 122042 broad.mit.edu 37 13 32313816 32313816 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:32313816C>T uc001utt.2 + 1 138 c.67C>T c.(67-69)CAT>TAT p.H23Y RXFP2_uc010aba.2_Missense_Mutation_p.H6Y NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 23 Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) CTTTCTACTTCATTTCATCGT 0.333 NaN 0 0 0 0.001168 0 5 88 LCP1 3936 broad.mit.edu 37 13 46708313 46708313 + Silent SNP C C T rs111548644 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:46708313C>T uc001vaz.3 - 14 1701 c.1575G>A c.(1573-1575)GTG>GTA p.V525V LCP1_uc010ack.2_Silent_p.V94V|LCP1_uc001vay.3_Silent_p.V122V|LCP1_uc001vba.3_Silent_p.V525V NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 525 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) ATGTTTCATTCACCCAGTTGA 0.393 NaN T BCL6 NHL 0 0 0 0.001368 0 11 93 DACH1 1602 broad.mit.edu 37 13 72053440 72053440 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:72053440C>T uc010thn.1 - 9 2154 c.1731G>A c.(1729-1731)TTG>TTA p.L577L DACH1_uc010tho.1_Silent_p.L429L|DACH1_uc010thp.1_Silent_p.L375L NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 629 DACHbox-C.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TGGCAACTTTCAACAGCCCCT 0.358 NaN 0 0 0 0.006214 0 8 132 DZIP1 22873 broad.mit.edu 37 13 96274734 96274734 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:96274734G>A uc001vmk.2 - 9 1825 c.973C>T c.(973-975)CAA>TAA p.Q325* DZIP1_uc001vml.2_Nonsense_Mutation_p.Q325* NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 325 Potential. germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TCTGACAGTTGCTATAAGATA 0.373 NaN 0 0 0 0.00499 0 12 125 MBNL2 10150 broad.mit.edu 37 13 97999162 97999162 + Silent SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:97999162A>G uc010aft.2 + 5 1461 c.645A>G c.(643-645)GTA>GTG p.V215V MBNL2_uc001vmz.2_Silent_p.V215V|MBNL2_uc001vna.2_Silent_p.V215V|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank NM_144778 NP_659002 Q5VZF2 MBNL2_HUMAN muscleblind-like 2 isoform 1 215 C3H1-type 4. mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding 0 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) ACAACACCGTAACCGTTTGTA 0.537 NaN 0 0 0 0.004007 0 14 102 UBAC2 337867 broad.mit.edu 37 13 99992667 99992667 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:99992667G>C uc001voa.3 + 7 1139 c.655G>C c.(655-657)GAA>CAA p.E219Q UBAC2_uc010tiu.1_Missense_Mutation_p.E241Q|UBAC2_uc001vob.3_Missense_Mutation_p.E192Q|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Missense_Mutation_p.E106Q|UBAC2_uc001voc.2_Missense_Mutation_p.E184Q|UBAC2_uc010tiw.1_RNA|UBAC2_uc001voh.2_Missense_Mutation_p.E23Q NM_001144072 NP_001137544 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 isoform 1 219 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTGGACACTTGAACCCATCTT 0.527 NaN 0 0 0 0.000602 0 4 94 ZIC2 7546 broad.mit.edu 37 13 100637333 100637333 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:100637333G>A uc001von.2 + 2 1209 c.1209G>A c.(1207-1209)ACG>ACA p.T403T NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 403 C2H2-type 5. T -> K (in HPE5). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGTCCTACACGCACCCCAGCT 0.667 NaN 0 0 0 0.004007 0 13 124 EFNB2 1948 broad.mit.edu 37 13 107147270 107147270 + Missense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:107147270C>A uc001vqi.2 - 4 597 c.572G>T c.(571-573)GGA>GTA p.G191V NM_004093 NP_004084 P52799 EFNB2_HUMAN ephrin B2 precursor 191 Extracellular (Potential). cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding ovary(1) 1 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) CGAACTTCTTCCATTTGTACC 0.393 NaN 1 0 5.01169e-05 0.00499 5.26492e-05 13 225 CARS2 79587 broad.mit.edu 37 13 111296814 111296814 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr13:111296814C>T uc001vrd.2 - 13 1374 c.1334G>A c.(1333-1335)AGA>AAA p.R445K CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 445 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) AGCAGGACTTCTCGGCCCTTC 0.423 NaN 0 0 0 0.001984 0 5 65 TOX4 9878 broad.mit.edu 37 14 21960463 21960463 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:21960463G>A uc001waz.2 + 6 922 c.819G>A c.(817-819)AAG>AAA p.K273K TOX4_uc001way.2_Silent_p.K143K|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.K250K|TOX4_uc010tlv.1_Silent_p.K143K NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 273 HMG box. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) AGGTATATAAGAGGAAAACTG 0.358 NaN 0 0 0 0.006214 0 8 84 MIPOL1 145282 broad.mit.edu 37 14 37969203 37969203 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:37969203G>C uc001wuc.2 + 13 1625 c.1122G>C c.(1120-1122)GAG>GAC p.E374D MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.E343D|MIPOL1_uc001wud.2_Missense_Mutation_p.E374D|MIPOL1_uc010ams.2_Missense_Mutation_p.E374D|MIPOL1_uc001wue.2_Missense_Mutation_p.E343D|MIPOL1_uc010amt.2_Missense_Mutation_p.E193D NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 374 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AAAACAGAGAGAACATTGTTT 0.348 NaN 0 0 0 0.001168 0 5 101 PSMC6 5706 broad.mit.edu 37 14 53187697 53187697 + Missense_Mutation SNP T T G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:53187697T>G uc010tqx.1 + 11 938 c.938T>G c.(937-939)ATA>AGA p.I313R PSMC6_uc001wzy.2_5'Flank NM_002806 NP_002797 P62333 PRS10_HUMAN proteasome 26S ATPase subunit 6 299 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging lung(1) 1 Breast(41;0.176) GATAGAAAAATACGTGAGTTA 0.368 NaN 0 0 0 0.001855 0 10 192 WDHD1 11169 broad.mit.edu 37 14 55429799 55429799 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:55429799G>C uc001xbm.1 - 19 2480 c.2402C>G c.(2401-2403)TCT>TGT p.S801C WDHD1_uc010aom.1_Missense_Mutation_p.S318C|WDHD1_uc001xbn.1_Missense_Mutation_p.S678C NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 801 cytoplasm|nucleoplasm DNA binding skin(1) 1 CCGAGAGCGAGAAGCATATTT 0.383 NaN 0 0 0 0.001984 0 6 73 KTN1 3895 broad.mit.edu 37 14 56122763 56122763 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:56122763G>A uc001xcb.2 + 30 3107 c.2805G>A c.(2803-2805)TTG>TTA p.L935L KTN1_uc001xce.2_Silent_p.L935L|KTN1_uc001xcc.2_Silent_p.L935L|KTN1_uc001xcd.2_Silent_p.L912L|KTN1_uc010trb.1_Silent_p.L935L|KTN1_uc001xcf.1_Silent_p.L912L|KTN1_uc010aoq.2_Silent_p.L230L NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 935 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 ATTCTAGGTTGAAAGAAAAGG 0.348 NaN T RET papillary thryoid 0 0 0 0.000602 0 4 21 RTN1 6252 broad.mit.edu 37 14 60213112 60213112 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:60213112G>C uc001xen.1 - 2 538 c.329C>G c.(328-330)TCT>TGT p.S110C NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 110 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCAGATGTCAGAAATGAGAGA 0.458 NaN 0 0 0 0.001984 0 6 57 NEK9 91754 broad.mit.edu 37 14 75590902 75590902 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:75590902C>T uc001xrl.2 - 2 398 c.244G>A c.(244-246)GAA>AAA p.E82K NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 82 Protein kinase. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) AAATCGACTTCCTTCCACACA 0.473 NaN 0 0 0 0.001984 0 6 60 SERPINA11 256394 broad.mit.edu 37 14 94914814 94914814 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:94914814G>T uc001ydd.1 - 2 358 c.298C>A c.(298-300)CTG>ATG p.L100M NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 100 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) AGGCCCTCCAGGATCAGAGCT 0.617 NaN 1 0 0.000442599 0.006214 0.000457261 9 77 PAPOLA 10914 broad.mit.edu 37 14 97003351 97003351 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:97003351G>A uc001yfq.2 + 12 1279 c.1069G>A c.(1069-1071)GAG>AAG p.E357K PAPOLA_uc001yfr.2_Missense_Mutation_p.E357K|PAPOLA_uc010twv.1_Missense_Mutation_p.E357K|PAPOLA_uc010avp.2_Missense_Mutation_p.E107K NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 357 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) GAGTAAGGCAGAGTGGTCCAA 0.313 NaN 0 0 0 0.001984 0 5 51 C14orf177 283598 broad.mit.edu 37 14 99183486 99183486 + Nonsense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:99183486G>T uc001yfz.1 + 4 672 c.253G>T c.(253-255)GAA>TAA p.E85* NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 85 0 Melanoma(154;0.128) CCAGAGACATGAAGAAACTTC 0.453 NaN 1 0 1.06961e-07 0.00308 1.1503e-07 5 70 C14orf73 91828 broad.mit.edu 37 14 103574805 103574805 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr14:103574805G>T uc001ymk.2 + 10 2003 c.1927G>T c.(1927-1929)GAC>TAC p.D643Y NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN hypothetical protein LOC91828 643 0 Melanoma(154;0.155) Epithelial(46;0.221) CTACAAAGATGACATCCAGCG 0.602 NaN 1 0 7.41877e-09 0.001882 8.0303e-09 21 315 HERC2 8924 broad.mit.edu 37 15 28408392 28408392 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:28408392G>A uc001zbj.2 - 69 10700 c.10594C>T c.(10594-10596)CAG>TAG p.Q3532* NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3532 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCCAAGGCCTGAGGCTCCGGA 0.502 NaN 0 0 0 0.00308 0 7 108 C15orf23 90417 broad.mit.edu 37 15 40675233 40675233 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:40675233G>A uc001zll.2 + 1 312 c.197G>A c.(196-198)CGG>CAG p.R66Q C15orf23_uc010ucp.1_Missense_Mutation_p.R66Q|C15orf23_uc001zlo.2_Missense_Mutation_p.R66Q|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 66 nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) GGGCAGGACCGGCGGGCTCCT 0.592 NaN 0 0 0 0.008291 0 10 136 SNAP23 8773 broad.mit.edu 37 15 42821985 42821985 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:42821985C>G uc001zpz.1 + 7 629 c.538C>G c.(538-540)CAA>GAA p.Q180E SNAP23_uc001zqa.1_Missense_Mutation_p.Q127E NM_003825 NP_003816 O00161 SNP23_HUMAN synaptosomal-associated protein 23 isoform 180 t-SNARE coiled-coil homology 2. cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome protein binding 0 all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;2.62e-06) GATTGATGCTCAAAATCCACA 0.403 NaN 0 0 0 0.000602 0 5 72 DMXL2 23312 broad.mit.edu 37 15 51772766 51772766 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:51772766G>C uc002abf.2 - 24 6762 c.6537C>G c.(6535-6537)CTC>CTG p.L2179L DMXL2_uc002abd.2_Silent_p.L249L|DMXL2_uc010ufy.1_Silent_p.L2179L|DMXL2_uc010bfa.2_Silent_p.L1543L NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2179 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GCAAAAATTTGAGTTCCATCC 0.393 NaN 0 0 0 0.00308 0 6 64 TRIP4 9325 broad.mit.edu 37 15 64689913 64689913 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:64689913G>A uc002anm.2 + 4 557 c.514G>A c.(514-516)GAT>AAT p.D172N NM_016213 NP_057297 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 172 C4-type. positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 TCACCCTTGTGATTGCCTGGG 0.498 NaN 0 0 0 0.001168 0 6 84 SMAD6 4091 broad.mit.edu 37 15 67073574 67073574 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:67073574G>A uc002aqf.2 + 4 2115 c.1192G>A c.(1192-1194)GAC>AAC p.D398N SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.D137N NM_005585 NP_005576 O43541 SMAD6_HUMAN SMAD family member 6 isoform 1 398 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding skin(1) 1 CAAGGAGCCCGACGGCGTGTG 0.711 NaN 0 0 0 0.00308 0 5 36 UACA 55075 broad.mit.edu 37 15 70959792 70959792 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:70959792C>G uc002asr.2 - 16 3335 c.3231G>C c.(3229-3231)CAG>CAC p.Q1077H UACA_uc010uke.1_Missense_Mutation_p.Q968H|UACA_uc002asq.2_Missense_Mutation_p.Q1064H|UACA_uc010bin.1_Missense_Mutation_p.Q1052H NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 1077 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 CCGTGTATTTCTGTGACAAGT 0.358 NaN 0 0 0 0.001984 0 7 51 AGBL1 123624 broad.mit.edu 37 15 86814885 86814885 + Missense_Mutation SNP C C G rs147544569 by1000genomes TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:86814885C>G uc002blz.1 + 14 1965 c.1885C>G c.(1885-1887)CTT>GTT p.L629V AGBL1_uc002bma.1_Missense_Mutation_p.L360V|AGBL1_uc002bmb.1_Missense_Mutation_p.L323V NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 629 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GAAGGAGGCTCTTCTTGGCAA 0.388 NaN 0 0 0 0.003163 0 10 125 ACAN 176 broad.mit.edu 37 15 89403660 89403660 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:89403660C>T uc010upo.1 + 13 7310 c.6936C>T c.(6934-6936)CAC>CAT p.H2312H ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2312 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGGCGAGCACTGTAACATAG 0.627 NaN 0 0 0 0.000602 0 3 31 MFGE8 4240 broad.mit.edu 37 15 89442994 89442994 + Missense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:89442994C>A uc002bng.3 - 7 1032 c.919G>T c.(919-921)GCC>TCC p.A307S MFGE8_uc002bnf.3_Missense_Mutation_p.A195S|MFGE8_uc002bnh.3_Intron|MFGE8_uc010bnn.2_Missense_Mutation_p.A299S|MFGE8_uc010upq.1_Missense_Mutation_p.A263S|MFGE8_uc010upr.1_Missense_Mutation_p.A307S NM_005928 NP_005919 Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein isoform a 307 F5/8 type C 2. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization ovary(1) 1 Lung NSC(78;0.0392)|all_lung(78;0.077) AAGTTACGGGCCCCCTGGGTG 0.542 NaN 1 0 8.12818e-05 0.001984 8.50307e-05 7 50 KIF7 374654 broad.mit.edu 37 15 90189215 90189215 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:90189215C>T uc002bof.2 - 8 1908 c.1831G>A c.(1831-1833)GAG>AAG p.E611K KIF7_uc010upw.1_Missense_Mutation_p.E98K NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN kinesin family member 7 611 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding ovary(2)|lung(1) 3 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CTGTTCACCTCAGTCAGCAAC 0.517 NaN 0 0 0 0.00499 0 13 160 BLM 641 broad.mit.edu 37 15 91333991 91333991 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:91333991G>C uc002bpr.2 + 15 3033 c.2936G>C c.(2935-2937)AGA>ACA p.R979T BLM_uc010uqh.1_Missense_Mutation_p.R979T|BLM_uc010uqi.1_Missense_Mutation_p.R604T|BLM_uc010bnx.2_Missense_Mutation_p.R979T|BLM_uc002bps.1_Missense_Mutation_p.R541T NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 979 Helicase C-terminal. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GAATCTGGCAGAGCTGGAAGA 0.438 NaN Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 0 0 0 0.004482 0 9 105 SV2B 9899 broad.mit.edu 37 15 91769716 91769716 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:91769716C>T uc002bqv.2 + 1 614 c.223C>T c.(223-225)CGG>TGG p.R75W SV2B_uc002bqt.2_Missense_Mutation_p.R75W|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 75 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GGACAGCCTTCGGGGCCAGAC 0.587 NaN 0 0 0 0.001168 0 4 32 ITFG3 83986 broad.mit.edu 37 16 312519 312520 + Missense_Mutation DNP TC TC CT TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:312519_312520TC>CT uc002cgf.2 + 8 1133_1134 c.938_939TC>CT c.(937-939)CTC>CCT p.L313P ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Missense_Mutation_p.L313P|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.L313P NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 313 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GAGAGCATGCTCAATGCCACCA 0.649 NaN 0 0 0 0.004672 0 11 88 UNKL 64718 broad.mit.edu 37 16 1417786 1417786 + Silent SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:1417786C>G uc010brn.1 - 7 798 c.780G>C c.(778-780)CTG>CTC p.L260L UNKL_uc002cln.2_Silent_p.L52L|UNKL_uc002clo.2_Silent_p.L49L|UNKL_uc002clp.2_Silent_p.L52L Q9H9P5 UNKL_HUMAN SubName: Full=Putative ubiquitin-protein ligase; EC=6.3.2.19; Flags: Fragment; 550 Ser-rich. cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding 0 Hepatocellular(780;0.0893) GGCCGGCACTCAGGATGGGGG 0.642 NaN 0 0 0 0.004672 0 3 9 TBC1D24 57465 broad.mit.edu 37 16 2546157 2546157 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:2546157C>G uc002cql.2 + 2 148 c.8C>G c.(7-9)TCT>TGT p.S3C TBC1D24_uc002cqk.2_Missense_Mutation_p.S3C|TBC1D24_uc002cqm.2_Missense_Mutation_p.S3C|TBC1D24_uc010bsm.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 3 neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 GCTATGGACTCTCCAGGATAC 0.597 NaN 0 0 0 0.004656 0 16 109 NMRAL1 57407 broad.mit.edu 37 16 4511851 4511851 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:4511851C>T uc002cwm.2 - 6 986 c.830G>A c.(829-831)AGA>AAA p.R277K NMRAL1_uc002cwn.2_Missense_Mutation_p.R277K|NMRAL1_uc002cwo.2_Missense_Mutation_p.R277K|NMRAL1_uc002cwp.2_Missense_Mutation_p.R313K NM_020677 NP_065728 Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 277 nucleus|perinuclear region of cytoplasm binding kidney(1) 1 GGGGTTGAGTCTCAGGGTCAG 0.617 NaN 0 0 0 0.001855 0 12 232 CLEC16A 23274 broad.mit.edu 37 16 11137897 11137897 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:11137897G>A uc002dao.2 + 16 2013 c.1783G>A c.(1783-1785)GAA>AAA p.E595K CLEC16A_uc002dan.3_Missense_Mutation_p.E577K NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 595 p.0?(1) ovary(1)|central_nervous_system(1) 2 TGCGAGAGAAGAAAGTGTTCA 0.443 NaN 0 0 0 0.001368 0 10 73 TXNDC11 51061 broad.mit.edu 37 16 11824584 11824584 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:11824584C>G uc010buu.1 - 4 678 c.616G>C c.(616-618)GAG>CAG p.E206Q TXNDC11_uc002dbg.1_Missense_Mutation_p.E206Q NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 206 Thioredoxin 1. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 ACAAACTTCTCAATGTAAACA 0.343 NaN 0 0 0 0.000602 0 5 115 ABCC1 4363 broad.mit.edu 37 16 16219752 16219752 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:16219752C>T uc010bvi.2 + 26 3978 c.3803C>T c.(3802-3804)TCA>TTA p.S1268L ABCC1_uc010bvj.2_Missense_Mutation_p.S1209L|ABCC1_uc010bvk.2_Missense_Mutation_p.S1212L|ABCC1_uc010bvl.2_Missense_Mutation_p.S1268L|ABCC1_uc010bvm.2_Missense_Mutation_p.S1153L|ABCC1_uc002del.3_Missense_Mutation_p.S1162L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1268 Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AAGGAGTATTCAGAGACTGAG 0.537 NaN 0 0 0 0.00308 0 6 54 MAPK3 5595 broad.mit.edu 37 16 30134420 30134420 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:30134420G>A uc002dws.2 - 1 211 c.111C>T c.(109-111)GAC>GAT p.D37D uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_5'Flank|MAPK3_uc002dwv.3_Silent_p.D37D|MAPK3_uc002dwt.2_Silent_p.D37D|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA NM_002746 NP_002737 P27361 MK03_HUMAN mitogen-activated protein kinase 3 isoform 1 37 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding 0 Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GCGGGCCCACGTCGAACGGCT 0.627 NaN 0 0 0 0.001168 0 4 42 SRCAP 10847 broad.mit.edu 37 16 30735318 30735318 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:30735318C>G uc002dze.1 + 25 4958 c.4573C>G c.(4573-4575)CTG>GTG p.L1525V SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L1320V|SRCAP_uc010bzz.1_Missense_Mutation_p.L1095V NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1525 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TGGTCACCCTCTGTTGTTGGC 0.587 NaN 0 0 0 0.001168 0 5 41 CHD9 80205 broad.mit.edu 37 16 53338213 53338213 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:53338213G>A uc002ehb.2 + 30 6459 c.6295G>A c.(6295-6297)GAA>AAA p.E2099K CHD9_uc002egy.2_Missense_Mutation_p.E2099K|CHD9_uc002ehc.2_Missense_Mutation_p.E2099K|CHD9_uc002ehf.2_Missense_Mutation_p.E1213K|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Missense_Mutation_p.E105K NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2099 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TGGAAAATGTGAAACAGACAG 0.448 NaN 0 0 0 0.004672 0 3 23 FUK 197258 broad.mit.edu 37 16 70500855 70500855 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:70500855C>T uc002eyy.2 + 6 540 c.482C>T c.(481-483)CCT>CTT p.P161L FUK_uc010vmb.1_Missense_Mutation_p.P144L|FUK_uc010cft.2_Missense_Mutation_p.P193L|FUK_uc002eyz.2_Intron NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 161 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) CCTGCAAATCCTGGTGAGCCT 0.647 NaN 0 0 0 0.008291 0 9 77 PLCG2 5336 broad.mit.edu 37 16 81929432 81929432 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr16:81929432G>C uc002fgt.2 + 13 1245 c.1093G>C c.(1093-1095)GAT>CAT p.D365H PLCG2_uc010chg.1_Missense_Mutation_p.D365H NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 365 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 GGACGGGCCCGATGGGAAGCC 0.607 NaN 0 0 0 0.00308 0 6 87 OR1D2 4991 broad.mit.edu 37 17 2995465 2995465 + Missense_Mutation SNP T T A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:2995465T>A uc010vrb.1 - 1 826 c.826A>T c.(826-828)ATG>TTG p.M276L NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 276 Helical; Name=7; (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 ACAGCATACATCACTGTGGCT 0.483 NaN 0 0 0 0.000978 0 9 113 ASGR2 433 broad.mit.edu 37 17 7017471 7017471 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:7017471C>T uc002gep.3 - 2 354 c.89G>A c.(88-90)AGG>AAG p.R30K ASGR2_uc002gem.1_5'UTR|ASGR2_uc002gen.1_Intron|ASGR2_uc002geo.1_Missense_Mutation_p.R30K|ASGR2_uc002ger.3_Missense_Mutation_p.R30K|ASGR2_uc002geq.3_Intron|ASGR2_uc010clw.2_Intron|ASGR2_uc010vtl.1_Intron NM_001181 NP_001172 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 isoform a 30 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding ovary(1) 1 Antihemophilic Factor(DB00025) GGGATTCAGCCTGCGAGTGCC 0.493 NaN 0 0 0 0.001855 0 11 115 DVL2 1856 broad.mit.edu 37 17 7131015 7131015 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:7131015G>A uc002gez.1 - 11 1472 c.1190C>T c.(1189-1191)TCC>TTC p.S397F DVL2_uc010vtr.1_Missense_Mutation_p.S391F NM_004422 NP_004413 O14641 DVL2_HUMAN dishevelled 2 397 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity lung(1)|kidney(1) 2 GCTCATGGAGGAGGAACCTGG 0.597 NaN 0 0 0 0.004672 0 3 37 SAT2 112483 broad.mit.edu 37 17 7530510 7530510 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:7530510G>C uc002gic.2 - 3 394 c.153C>G c.(151-153)TTC>TTG p.F51L SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SHBG_uc010cmu.2_Intron|SAT2_uc002gib.1_RNA|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank NM_133491 NP_597998 Q96F10 SAT2_HUMAN diamine N-acetyltransferase 2 51 N-acetyltransferase. cytoplasm diamine N-acetyltransferase activity p.?(1) 0 READ - Rectum adenocarcinoma(115;0.166) Spermine(DB00127) AACAGTGATAGAAAGGATTGT 0.547 NaN 0 0 0 0.00308 0 7 80 DNAH2 146754 broad.mit.edu 37 17 7643790 7643790 + Missense_Mutation SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:7643790T>C uc002giu.1 + 9 1443 c.1429T>C c.(1429-1431)TCA>CCA p.S477P DNAH2_uc002git.2_Missense_Mutation_p.S559P|DNAH2_uc010vuk.1_Missense_Mutation_p.S477P NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 477 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTGATCACCTCAGCCTTCGA 0.667 NaN 0 0 0 0.004007 0 13 219 DNAH2 146754 broad.mit.edu 37 17 7674653 7674653 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:7674653C>T uc002giu.1 + 27 4382 c.4368C>T c.(4366-4368)ATC>ATT p.I1456I NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1456 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTCAGAATATCTTCCTAGGAG 0.512 NaN 0 0 0 0.00632 0 20 152 SPDYE4 388333 broad.mit.edu 37 17 8659711 8659711 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:8659711C>T uc010cnz.1 - 3 561 c.384G>A c.(382-384)CTG>CTA p.L128L NM_001128076 NP_001121548 A6NLX3 SPDE4_HUMAN speedy homolog E4 128 0 CTGACACCCTCAGGTCTTTGT 0.527 NaN 0 0 0 0.004007 0 14 156 TOM1L2 146691 broad.mit.edu 37 17 17754256 17754256 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:17754256G>A uc002grz.3 - 13 1446 c.1289C>T c.(1288-1290)GCG>GTG p.A430V TOM1L2_uc002gry.3_Missense_Mutation_p.A380V|TOM1L2_uc010vwy.1_Missense_Mutation_p.A406V|TOM1L2_uc010cpr.2_Missense_Mutation_p.A385V|TOM1L2_uc010vwz.1_Missense_Mutation_p.A311V|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.A163V NM_001082968 NP_001076437 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 isoform 3 430 intracellular protein transport intracellular 0 all_neural(463;0.228) AGATGGCTGCGCAACGGGGAT 0.587 NaN 0 0 0 0.004007 0 14 121 EPN2 22905 broad.mit.edu 37 17 19186762 19186762 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:19186762G>C uc002gvd.3 + 3 778 c.330G>C c.(328-330)CAG>CAC p.Q110H EPN2_uc002gvc.2_Missense_Mutation_p.Q110H|EPN2_uc010vyn.1_Missense_Mutation_p.Q110H|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.Q110H|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.Q110H|EPN2_uc010vyp.1_Missense_Mutation_p.Q110H|EPN2_uc010vyq.1_Missense_Mutation_p.Q110H|EPN2_uc002gvh.1_Missense_Mutation_p.Q110H NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 110 ENTH. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) AGGACTTCCAGTACATTGACC 0.567 NaN 0 0 0 0.004482 0 7 87 ULK2 9706 broad.mit.edu 37 17 19689285 19689285 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:19689285C>G uc002gwm.3 - 21 2725 c.2216G>C c.(2215-2217)TGT>TCT p.C739S ULK2_uc002gwn.2_Missense_Mutation_p.C739S NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 739 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) CATGTGGGTACAAGTGGGGGC 0.478 NaN 0 0 0 0.001984 0 7 62 NLK 51701 broad.mit.edu 37 17 26449721 26449721 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:26449721G>A uc010crj.2 + 2 763 c.551G>A c.(550-552)CGG>CAG p.R184Q NLK_uc010cri.1_RNA NM_016231 NP_057315 Q9UBE8 NLK_HUMAN nemo like kinase 184 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGGGTCTTCCGGGAATTGAAG 0.393 NaN 0 0 0 0.00308 0 7 90 ATAD5 79915 broad.mit.edu 37 17 29220310 29220310 + Splice_Site SNP A A T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:29220310A>T uc002hfs.1 + 21 4787 c.4441_splice c.e21-2 p.H1481_splice NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ATTGTTTTTCAGCACAAAATC 0.294 NaN 0 0 0 0.00361 0 61 253 RAB11FIP4 84440 broad.mit.edu 37 17 29857477 29857477 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:29857477C>T uc002hgn.1 + 14 2016 c.1787C>T c.(1786-1788)TCG>TTG p.S596L RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S494L NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 596 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GACACCGCCTCGCGCGATGAG 0.582 NaN 0 0 0 0.001855 0 11 146 CCT6B 10693 broad.mit.edu 37 17 33285634 33285634 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:33285634G>A uc002hig.2 - 3 375 c.281C>T c.(280-282)TCA>TTA p.S94L CCT6B_uc010ctg.2_Missense_Mutation_p.S94L|CCT6B_uc010wcc.1_Intron|ZNF830_uc002hih.3_5'Flank NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 94 S -> T (in Ref. 1; BAA11347). chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) TAGAACATTTGAAGTAGTACC 0.353 NaN 0 0 0 0.000602 0 4 62 KRT13 3860 broad.mit.edu 37 17 39659272 39659272 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:39659272G>A uc002hwu.1 - 4 877 c.814C>T c.(814-816)CGC>TGC p.R272C KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc002hww.2_Missense_Mutation_p.R165C|KRT13_uc010wfr.1_Missense_Mutation_p.R165C|KRT13_uc010cxo.2_Missense_Mutation_p.R272C|KRT13_uc002hwx.1_Missense_Mutation_p.R260C NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 272 Linker 12.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) GCCAGCACGCGGGTCAGGTCA 0.602 NaN 0 0 0 0.00361 0 45 701 KRT17 3872 broad.mit.edu 37 17 39777261 39777261 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:39777261G>C uc002hxh.2 - 5 1038 c.917C>G c.(916-918)ACC>AGC p.T306S JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 306 Coil 2.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) GGCCTGCATGGTGCGCCGGAG 0.602 NaN Steatocystoma_Multiplex 0 0 0 0.00245 0 11 99 SLC25A39 51629 broad.mit.edu 37 17 42397441 42397441 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:42397441G>A uc002ign.2 - 12 1162 c.1008C>T c.(1006-1008)ATC>ATT p.I336I SLC25A39_uc002igm.2_Silent_p.I328I|SLC25A39_uc002igo.2_Silent_p.I328I|SLC25A39_uc010wiw.1_Silent_p.I313I|SLC25A39_uc010czu.2_Silent_p.I204I NM_001143780 NP_001137252 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 isoform a 336 Solcar 3.|Helical; Name=6; (Potential). heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane upper_aerodigestive_tract(1) 1 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TGCTGATCATGATGGCACAGG 0.617 NaN 0 0 0 0.007413 0 15 130 SPAG9 9043 broad.mit.edu 37 17 49043730 49043730 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:49043730G>A uc002itc.2 - 30 4078 c.3869C>T c.(3868-3870)TCA>TTA p.S1290L SPAG9_uc002itb.2_Missense_Mutation_p.S1276L|SPAG9_uc002itd.2_Missense_Mutation_p.S1280L|SPAG9_uc002ita.2_Missense_Mutation_p.S1146L NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 1290 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) AAGAAGTTCTGATTCTCCACC 0.418 NaN 0 0 0 0.003163 0 12 160 NOG 9241 broad.mit.edu 37 17 54672146 54672146 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:54672146G>A uc002iup.2 + 1 1087 c.562G>A c.(562-564)GAG>AAG p.E188K NM_005450 NP_005441 Q13253 NOGG_HUMAN noggin precursor 188 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity 0 Breast(9;5.24e-08) CTCCGTGCCCGAGGGCATGGT 0.687 NaN 0 0 0 0.000602 0 3 33 MED13 9969 broad.mit.edu 37 17 60032756 60032756 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:60032756G>C uc002izo.2 - 26 6032 c.5955C>G c.(5953-5955)TTC>TTG p.F1985L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1985 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TGTTGGGATTGAAAGCTAAAT 0.244 NaN 0 0 0 0.008291 0 9 53 MED13 9969 broad.mit.edu 37 17 60059762 60059762 + Nonsense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:60059762G>T uc002izo.2 - 16 3679 c.3602C>A c.(3601-3603)TCA>TAA p.S1201* NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1201 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TCCAAAGGGTGAAAATAAATT 0.388 NaN 1 0 1.06961e-07 0.00308 1.1503e-07 8 134 MED13 9969 broad.mit.edu 37 17 60059866 60059866 + Silent SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:60059866G>T uc002izo.2 - 16 3575 c.3498C>A c.(3496-3498)CTC>CTA p.L1166L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1166 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 AGGTAGCCCTGAGAGCTTCAA 0.348 NaN 1 0 2.27111e-07 0.001368 2.43194e-07 13 134 CD300LB 124599 broad.mit.edu 37 17 72518922 72518922 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:72518922G>C uc002jkx.2 - 4 685 c.672C>G c.(670-672)ATC>ATG p.I224M NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 187 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 AGTTCATGTAGATAGGCTGTT 0.537 NaN 0 0 0 0.000978 0 9 116 TMC8 147138 broad.mit.edu 37 17 76136966 76136966 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:76136966G>C uc002jup.2 + 16 2336 c.1954G>C c.(1954-1956)GAG>CAG p.E652Q TMC8_uc002juq.2_Missense_Mutation_p.E429Q NM_152468 NP_689681 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 652 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) ACTGCTGCCGGAGCCAGGCCC 0.682 NaN Epidermodysplasia_Verruciformis_Familial_Clustering_of 0 0 0 0.009096 0 3 34 DNAH17 8632 broad.mit.edu 37 17 76548800 76548800 + Missense_Mutation SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:76548800T>C uc002jvv.1 - 11 1478 c.1372A>G c.(1372-1374)ACA>GCA p.T458A RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGAATAATGTCGTTTCAGCG 0.428 NaN 0 0 0 0.000978 0 11 279 ABHD3 171586 broad.mit.edu 37 18 19239256 19239256 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr18:19239256C>T uc002ktl.2 - 6 857 c.717G>A c.(715-717)TTG>TTA p.L239L ABHD3_uc002ktm.2_Silent_p.L186L|ABHD3_uc010xao.1_RNA|ABHD3_uc002ktk.2_Silent_p.L44L|ABHD3_uc002ktn.2_Silent_p.L16L NM_138340 NP_612213 Q8WU67 ABHD3_HUMAN alpha/beta hydrolase domain containing protein 239 integral to membrane carboxylesterase activity central_nervous_system(1) 1 CAGCTGCCATCAAAGGCGTTT 0.393 NaN 0 0 0 0.001984 0 7 108 SLC39A6 25800 broad.mit.edu 37 18 33706705 33706705 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr18:33706705C>G uc010dmy.2 - 2 556 c.266G>C c.(265-267)AGA>ACA p.R89T SLC39A6_uc002kzj.2_Intron NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 89 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 TATATGGATTCTTTTAATCTT 0.169 NaN 0 0 0 0.009096 0 4 27 SYT4 6860 broad.mit.edu 37 18 40850420 40850420 + Silent SNP G G A rs117568424 byFrequency TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr18:40850420G>A uc002law.2 - 4 1533 c.1164C>T c.(1162-1164)ATC>ATT p.I388I SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.I370I|SYT4_uc010dnh.2_RNA NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 388 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 CTAACTGCCCGATTACCTCAT 0.473 NaN 0 0 0 0.001168 0 6 145 ACAA2 10449 broad.mit.edu 37 18 47320775 47320775 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr18:47320775G>A uc002ldw.3 - 5 849 c.452C>T c.(451-453)TCA>TTA p.S151L ACAA2_uc002ldx.3_Missense_Mutation_p.S148L NM_006111 NP_006102 P42765 THIM_HUMAN acetyl-coenzyme A acyltransferase 2 151 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 ATCTGTTAATGATACCCATAA 0.328 NaN 0 0 0 0.009096 0 3 44 ZNF407 55628 broad.mit.edu 37 18 72343115 72343115 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr18:72343115C>T uc002llw.2 + 1 197 c.140C>T c.(139-141)TCT>TTT p.S47F ZNF407_uc010xfc.1_Missense_Mutation_p.S47F|ZNF407_uc010dqu.1_Missense_Mutation_p.S47F|ZNF407_uc002llu.2_Missense_Mutation_p.S46F NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CCTGAGAATTCTATGGGCAAA 0.388 NaN 0 0 0 0.004672 0 3 33 ZNF407 55628 broad.mit.edu 37 18 72343658 72343658 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr18:72343658C>T uc002llw.2 + 1 740 c.683C>T c.(682-684)TCA>TTA p.S228L ZNF407_uc010xfc.1_Missense_Mutation_p.S228L|ZNF407_uc010dqu.1_Missense_Mutation_p.S228L|ZNF407_uc002llu.2_Missense_Mutation_p.S227L NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 228 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAGAGCAGCTCAGCACTACAT 0.438 NaN 0 0 0 0.004007 0 17 151 ZNF407 55628 broad.mit.edu 37 18 72343946 72343946 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr18:72343946G>A uc002llw.2 + 1 1028 c.971G>A c.(970-972)GGA>GAA p.G324E ZNF407_uc010xfc.1_Missense_Mutation_p.G324E|ZNF407_uc010dqu.1_Missense_Mutation_p.G324E|ZNF407_uc002llu.2_Missense_Mutation_p.G323E NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CGAAATGTGGGAAGCACGTTT 0.343 NaN 0 0 0 0.001368 0 10 114 ELAVL1 1994 broad.mit.edu 37 19 8056716 8056716 + Splice_Site SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:8056716C>G uc002mjb.2 - 2 152 c.-15_splice c.e2-1 NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 TTTCAAAAATCTGCCAAGAGA 0.373 NaN 0 0 0 0.001984 0 6 30 CC2D1A 54862 broad.mit.edu 37 19 14028882 14028882 + Splice_Site SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:14028882G>A uc002mxo.2 + 7 1048 c.749_splice c.e7-1 p.G250_splice CC2D1A_uc002mxn.2_Splice_Site_p.G149_splice|CC2D1A_uc002mxp.2_Splice_Site_p.G250_splice|CC2D1A_uc010dzh.2_Splice_Site|CC2D1A_uc002mxq.1_5'Flank NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CTCCCTTCCAGGTCCCTGCAG 0.517 NaN 0 0 0 0.006214 0 7 42 OR7C1 26664 broad.mit.edu 37 19 14910386 14910386 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:14910386G>A uc010xnz.1 - 1 563 c.563C>T c.(562-564)GCC>GTC p.A188V NM_198944 NP_945182 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, 188 Extracellular (Potential). sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 GTCAGAACAGGCGAGCTTCAG 0.423 NaN 0 0 0 0.000978 0 8 113 OR7C1 26664 broad.mit.edu 37 19 14910475 14910475 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:14910475G>C uc010xnz.1 - 1 474 c.474C>G c.(472-474)CTC>CTG p.L158L NM_198944 NP_945182 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, 158 Helical; Name=4; (Potential). sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TCAAGGTCTCGAGCAGGGAAC 0.522 NaN 0 0 0 0.004482 0 8 157 OR7C1 26664 broad.mit.edu 37 19 14910879 14910879 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:14910879G>T uc010xnz.1 - 1 70 c.70C>A c.(70-72)CAG>AAG p.Q24K NM_198944 NP_945182 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, 24 Extracellular (Potential). sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 AGAATGAACTGAATCTCTGAC 0.468 NaN 1 0 3.59834e-05 0.001168 3.78812e-05 6 159 OR7A17 26333 broad.mit.edu 37 19 14992003 14992003 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:14992003G>C uc010xob.1 - 1 165 c.165C>G c.(163-165)CTC>CTG p.L55L NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) TGGGGGTGTGGAGGTGGGAGT 0.498 NaN 0 0 0 0.00308 0 6 81 AKAP8L 26993 broad.mit.edu 37 19 15508413 15508413 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:15508413C>T uc002naw.1 - 11 1422 c.1323G>A c.(1321-1323)AAG>AAA p.K441K AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Silent_p.K380K NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 441 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 CCTCTGTCTTCTTGGTCTTGT 0.502 NaN 0 0 0 0.001984 0 5 38 CRLF1 9244 broad.mit.edu 37 19 18709341 18709341 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:18709341C>T uc010ebt.1 - 4 792 c.598G>A c.(598-600)GAC>AAC p.D200N NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 200 Fibronectin type-III 1. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 AGAGCCAGGTCCTTGGGGATG 0.622 NaN 0 0 0 0.007413 0 13 148 CRLF1 9244 broad.mit.edu 37 19 18709383 18709383 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:18709383C>T uc010ebt.1 - 4 750 c.556G>A c.(556-558)GAG>AAG p.E186K NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 186 Fibronectin type-III 1. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 GTGTGGTACTCCTCACATGTG 0.632 NaN 0 0 0 0.001882 0 20 150 CRLF1 9244 broad.mit.edu 37 19 18709656 18709656 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:18709656C>G uc010ebt.1 - 3 647 c.453G>C c.(451-453)TTG>TTC p.L151F NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 151 Fibronectin type-III 1. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 AGCGGCAGGTCAAGTCCTTCA 0.607 NaN 0 0 0 0.000978 0 8 90 C19orf12 83636 broad.mit.edu 37 19 30199175 30199175 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:30199175G>A uc002nsk.2 - 2 577 c.146C>T c.(145-147)CCG>CTG p.P49L C19orf12_uc002nsj.2_Missense_Mutation_p.P60L|C19orf12_uc002nsl.2_Intron|C19orf12_uc002nsm.2_RNA NM_031448 NP_113636 Q9NSK7 CS012_HUMAN hypothetical protein LOC83636 isoform 2 49 Helical; (Potential). integral to membrane 0 Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) GGCGAGTCCCGGTGGGCCGCC 0.572 NaN 0 0 0 0.002836 0 23 106 RGS9BP 388531 broad.mit.edu 37 19 33167295 33167295 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:33167295G>C uc002ntp.1 + 1 983 c.126G>C c.(124-126)AAG>AAC p.K42N ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank NM_207391 NP_997274 Q6ZS82 R9BP_HUMAN RGS9 anchor protein 42 Potential.|Cytoplasmic (Potential). negative regulation of signal transduction integral to membrane central_nervous_system(1) 1 Esophageal squamous(110;0.137) AGCTGCAAAAGACGCGCCAGA 0.701 NaN 0 0 0 0.004672 0 3 27 ZFP30 22835 broad.mit.edu 37 19 38126715 38126715 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:38126715C>T uc002ogv.1 - 6 1243 c.727G>A c.(727-729)GAA>AAA p.E243K ZFP30_uc002ogw.1_Missense_Mutation_p.E243K|ZFP30_uc002ogx.1_Missense_Mutation_p.E243K|ZFP30_uc010xtt.1_Missense_Mutation_p.E242K NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 243 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTTTACATTCATACGGCTTC 0.388 NaN 0 0 0 0.010504 0 19 52 KCNK6 9424 broad.mit.edu 37 19 38817601 38817601 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:38817601C>T uc002oic.2 + 2 801 c.691C>T c.(691-693)CGG>TGG p.R231W KCNK6_uc002oid.2_Missense_Mutation_p.R97W NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 231 voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1) 1 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CCAGCCCTACCGGGCCCTCTA 0.627 NaN 0 0 0 0.00499 0 16 125 PLEKHG2 64857 broad.mit.edu 37 19 39915786 39915786 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:39915786C>T uc010xuz.1 + 19 4338 c.4013C>T c.(4012-4014)ACG>ATG p.T1338M PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.T1116M NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 1338 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TATGCCACGACGGTTAACATC 0.692 NaN 0 0 0 0.000602 0 4 40 ATP1A3 478 broad.mit.edu 37 19 42490310 42490310 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:42490310C>T uc002osg.2 - 5 583 c.429G>A c.(427-429)AAG>AAA p.K143K ATP1A3_uc010xwf.1_Silent_p.K154K|ATP1A3_uc010xwg.1_Silent_p.K113K|ATP1A3_uc010xwh.1_Silent_p.K156K|ATP1A3_uc002osh.2_Silent_p.K143K NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 143 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 TCTTGGAGCTCTTGGCCTCCT 0.607 NaN 0 0 0 0.006122 0 15 155 PSG8 440533 broad.mit.edu 37 19 43259327 43259327 + Missense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:43259327C>A uc002ouo.2 - 4 899 c.801G>T c.(799-801)GAG>GAT p.E267D PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.E106D|PSG8_uc002ouh.2_Missense_Mutation_p.E267D|PSG8_uc010ein.2_Missense_Mutation_p.E145D|PSG8_uc002ouj.3_Missense_Mutation_p.E49D|PSG8_uc002ouk.3_Missense_Mutation_p.E106D|PSG8_uc002oul.3_Missense_Mutation_p.E267D|PSG8_uc002oum.3_Missense_Mutation_p.E174D|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.E174D NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 267 Ig-like C2-type 2. extracellular region 0 Prostate(69;0.00899) AGGTGTAGTTCTCACTCTTAG 0.483 NaN 1 0 4.59853e-10 0.005443 5.02115e-10 17 253 ZNF285 26974 broad.mit.edu 37 19 44891132 44891132 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:44891132C>T uc002ozd.3 - 4 1362 c.1275G>A c.(1273-1275)GAG>GAA p.E425E ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.E432E NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 TATATGGTTTCTCCCCTGTGT 0.493 NaN 0 0 0 0.006214 0 8 67 SFRS16 11129 broad.mit.edu 37 19 45563675 45563675 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:45563675G>A uc002pak.2 + 9 837 c.739G>A c.(739-741)GAG>AAG p.E247K SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.E185K|SFRS16_uc002pam.2_Missense_Mutation_p.E247K|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 247 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGAGGAGGCAGAGGCCATCAA 0.587 NaN 0 0 0 0.008291 0 8 105 PPFIA3 8541 broad.mit.edu 37 19 49643260 49643260 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:49643260G>A uc002pmr.2 + 18 2615 c.2283G>A c.(2281-2283)AAG>AAA p.K761K PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.K629K|PPFIA3_uc002pmt.2_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 761 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CCAAGAAGAAGAGCATCAAGT 0.557 NaN 0 0 0 0.004482 0 8 161 DKKL1 27120 broad.mit.edu 37 19 49867919 49867919 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:49867919G>A uc002pnk.2 + 2 305 c.91G>A c.(91-93)GCT>ACT p.A31T TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank NM_014419 NP_055234 Q9UK85 DKKL1_HUMAN dickkopf-like 1 precursor 31 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity 0 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) CTCCGCTGCAGCTCCTATCCA 0.622 NaN 0 0 0 0.008291 0 8 89 VRK3 51231 broad.mit.edu 37 19 50510925 50510925 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:50510925C>T uc002prg.2 - 5 546 c.448G>A c.(448-450)GAA>AAA p.E150K VRK3_uc002prh.1_Missense_Mutation_p.E150K|VRK3_uc002pri.1_Missense_Mutation_p.E100K|VRK3_uc010ens.2_Missense_Mutation_p.E150K|VRK3_uc010ybl.1_Missense_Mutation_p.E100K|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Missense_Mutation_p.E100K|VRK3_uc002prk.1_Missense_Mutation_p.E150K|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Missense_Mutation_p.E150K|VRK3_uc010ybn.1_Missense_Mutation_p.E150K NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 150 nucleus ATP binding|protein kinase activity stomach(1)|skin(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GGCAAAGCTTCAAGTGAGGTG 0.582 NaN 0 0 0 0.00308 0 7 152 C19orf41 126123 broad.mit.edu 37 19 50666221 50666221 + Silent SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:50666221C>A uc002prp.1 - 1 318 c.231G>T c.(229-231)GTG>GTT p.V77V NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 77 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) AACACGCACCCACTTTCCCCA 0.682 NaN 1 0 0.000157383 0.00308 0.000163955 5 69 ZNF347 84671 broad.mit.edu 37 19 53644299 53644299 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:53644299C>T uc002qbb.1 - 5 1851 c.1782G>A c.(1780-1782)GAG>GAA p.E594E ZNF347_uc010eql.1_Silent_p.E595E|ZNF347_uc002qbc.1_Silent_p.E595E NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TATAAGGTTTCTCTCCAGTAT 0.388 NaN 0 0 0 0.010504 0 17 151 PRKCG 5582 broad.mit.edu 37 19 54410095 54410095 + Missense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:54410095C>A uc002qcq.1 + 18 2322 c.2040C>A c.(2038-2040)TTC>TTA p.F680L PRKCG_uc010yeg.1_Missense_Mutation_p.F680L|PRKCG_uc010yeh.1_Missense_Mutation_p.F531L NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 680 AGC-kinase C-terminal. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACCCCGACTTCGTGCACCCGG 0.687 NaN OREG0025667 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.80697e-09 0.000978 3.05159e-09 10 139 ZNF582 147948 broad.mit.edu 37 19 56896256 56896256 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:56896256C>G uc002qmz.1 - 5 689 c.530G>C c.(529-531)AGA>ACA p.R177T ZNF582_uc002qmy.2_Missense_Mutation_p.R208T NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 177 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) GAAGTCTTTTCTACATTTATT 0.328 NaN 0 0 0 0.004672 0 3 41 SLC27A5 10998 broad.mit.edu 37 19 59022230 59022230 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr19:59022230G>A uc002qtc.2 - 2 866 c.756C>T c.(754-756)CTC>CTT p.L252L NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 252 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AGGTATGGCTGAGGTAGAAGC 0.632 NaN 0 0 0 0.004672 0 3 37 UBXN2A 165324 broad.mit.edu 37 2 24194153 24194153 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:24194153G>A uc010exy.2 + 4 517 c.49G>A c.(49-51)GAA>AAA p.E17K UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.E17K|UBXN2A_uc010ykj.1_Missense_Mutation_p.E17K NM_181713 NP_859064 P68543 UBX2A_HUMAN UBX domain containing 4 17 0 TAGGGTTTGTGAAACAGGATC 0.308 NaN 0 0 0 0.004482 0 7 100 MAPRE3 22924 broad.mit.edu 37 2 27248831 27248831 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:27248831C>G uc002rhw.2 + 6 861 c.708C>G c.(706-708)ATC>ATG p.I236M MAPRE3_uc002rhx.2_Missense_Mutation_p.I221M NM_012326 NP_036458 Q9UPY8 MARE3_HUMAN microtubule-associated protein, RP/EB family, 236 APC-binding.|EB1 C-terminal.|DCTN1-binding. cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGAGCTCATCTGCCAGGAGC 0.537 NaN 0 0 0 0.003163 0 12 90 C2orf16 84226 broad.mit.edu 37 2 27805353 27805353 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:27805353C>T uc002rkz.3 + 1 5965 c.5914C>T c.(5914-5916)CCC>TCC p.P1972S ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1972 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ACATAAAAATCCCAAAGCAGG 0.507 NaN 0 0 0 0.003954 0 19 188 CCDC121 79635 broad.mit.edu 37 2 27850025 27850025 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:27850025C>G uc002rle.2 - 2 823 c.642G>C c.(640-642)CAG>CAC p.Q214H ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.Q378H|CCDC121_uc002rld.2_Missense_Mutation_p.Q376H|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank NM_024584 NP_078860 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 isoform 3 214 Potential. 0 Acute lymphoblastic leukemia(172;0.155) CCGTTAGTTTCTGGGCTTGCT 0.478 NaN 0 0 0 0.004482 0 9 38 SLC4A1AP 22950 broad.mit.edu 37 2 27900720 27900720 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:27900720G>A uc002rlk.3 + 8 1974 c.1692G>A c.(1690-1692)CTG>CTA p.L564L NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 564 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) CTTTTGAACTGAGGAAAGAAC 0.358 NaN 0 0 0 0.000978 0 10 68 NLRC4 58484 broad.mit.edu 37 2 32475775 32475775 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:32475775G>C uc002roi.2 - 4 1404 c.1158C>G c.(1156-1158)TTC>TTG p.F386L NLRC4_uc002roj.1_Missense_Mutation_p.F386L|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 386 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGCTCCGAATGAAGTCACTTG 0.468 NaN 0 0 0 0.008291 0 9 56 BIRC6 57448 broad.mit.edu 37 2 32668572 32668572 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:32668572G>T uc010ezu.2 + 20 4386 c.4252G>T c.(4252-4254)GAC>TAC p.D1418Y NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1418 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGGCAAATGTGACCCATGTCA 0.333 NaN 1 0 0.004672 0.004672 0.00477731 3 19 BIRC6 57448 broad.mit.edu 37 2 32670646 32670646 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:32670646G>A uc010ezu.2 + 21 4528 c.4394G>A c.(4393-4395)GGA>GAA p.G1465E NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1465 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GATCTGGCTGGATGCAGTACA 0.378 NaN 0 0 0 0.00499 0 13 39 BIRC6 57448 broad.mit.edu 37 2 32673888 32673888 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:32673888G>A uc010ezu.2 + 22 4644 c.4510G>A c.(4510-4512)GAT>AAT p.D1504N NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1504 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTCACCATTTGATCCAGTCCT 0.313 NaN 0 0 0 0.006122 0 14 54 ATL2 64225 broad.mit.edu 37 2 38570616 38570616 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:38570616C>G uc002rqq.2 - 2 187 c.157G>C c.(157-159)GAG>CAG p.E53Q ATL2_uc010ynm.1_Missense_Mutation_p.E35Q|ATL2_uc010ynn.1_Missense_Mutation_p.E35Q|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Missense_Mutation_p.E53Q|ATL2_uc002rqr.2_Intron NM_001135673 NP_001129145 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 isoform 2 53 Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding ovary(1)|kidney(1)|skin(1) 3 TTCATAACCTCATCAGAATTT 0.338 NaN 0 0 0 0.006214 0 7 65 NRXN1 9378 broad.mit.edu 37 2 50850623 50850623 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:50850623C>T uc010fbq.2 - 6 2539 c.1062G>A c.(1060-1062)ATG>ATA p.M354I NRXN1_uc002rxb.3_Missense_Mutation_p.M1I|NRXN1_uc002rxe.3_Missense_Mutation_p.M321I|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CAGTGTGAAGCATCAGTCCAT 0.433 NaN 0 0 0 0.00632 0 22 181 GPR75 10936 broad.mit.edu 37 2 54081274 54081274 + Missense_Mutation SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:54081274T>C uc002rxo.3 - 2 891 c.620A>G c.(619-621)TAT>TGT p.Y207C ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 207 Helical; Name=5; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTCGACCACATAGAGAGACAA 0.507 NaN 0 0 0 0.00308 0 7 117 GPR75 10936 broad.mit.edu 37 2 54081280 54081280 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:54081280G>C uc002rxo.3 - 2 885 c.614C>G c.(613-615)TCT>TGT p.S205C ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 205 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CACATAGAGAGACAAAATGGC 0.493 NaN 0 0 0 0.004482 0 8 114 SERTAD2 9792 broad.mit.edu 37 2 64863402 64863402 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:64863402C>T uc002sde.1 - 2 901 c.604G>A c.(604-606)GAG>AAG p.E202K NM_014755 NP_055570 Q14140 SRTD2_HUMAN SERTA domain containing 2 202 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus 0 GTGCCAGCCTCGCTGGAGGTC 0.567 NaN 0 0 0 0.005443 0 24 77 C2orf68 388969 broad.mit.edu 37 2 85836116 85836116 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:85836116G>C uc002sqc.2 - 4 525 c.453C>G c.(451-453)CTC>CTG p.L151L USP39_uc002sqb.2_Intron NM_001013649 NP_001013671 Q2NKX9 CB068_HUMAN hypothetical protein LOC388969 151 central_nervous_system(1) 1 TACGCAACTTGAGGGCTTCTC 0.552 NaN 0 0 0 0.006214 0 7 115 TEKT4 150483 broad.mit.edu 37 2 95537570 95537570 + Silent SNP C C T rs66467545 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:95537570C>T uc002stw.1 + 1 339 c.246C>T c.(244-246)CGC>CGT p.R82R uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 82 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 TGGCGCAGCGCACGCAGCAAG 0.692 NaN 0 0 0 0.001984 0 4 24 C2orf55 343990 broad.mit.edu 37 2 99413948 99413948 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:99413948C>T uc002szf.1 - 8 2763 c.2469G>A c.(2467-2469)GCG>GCA p.A823A NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 823 Pro-rich. 0 TCCAGGGTGGCGCAGGCTGCC 0.587 NaN 0 0 0 0.004007 0 12 101 NEB 4703 broad.mit.edu 37 2 152553184 152553184 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:152553184T>C uc010fnx.2 - 17 1727 c.1536A>G c.(1534-1536)CTA>CTG p.L512L NEB_uc010fny.1_Silent_p.L66L NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 512 Nebulin 12. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CTTGGGCTTGTAGCAGAACAG 0.403 NaN 0 0 0 0.001168 0 5 59 TTN 7273 broad.mit.edu 37 2 179482573 179482573 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:179482573G>A uc010zfg.1 - 202 40025 c.39801C>T c.(39799-39801)GCC>GCT p.A13267A TTN_uc010zfh.1_Silent_p.A6962A|TTN_uc010zfi.1_Silent_p.A6895A|TTN_uc010zfj.1_Silent_p.A6770A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14194 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCGATTTTGGGCTCTCACTC 0.463 NaN 0 0 0 0.004482 0 9 96 TTN 7273 broad.mit.edu 37 2 179497319 179497319 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:179497319C>G uc010zfg.1 - 184 35934 c.35710G>C c.(35710-35712)GAA>CAA p.E11904Q TTN_uc010zfh.1_Missense_Mutation_p.E5599Q|TTN_uc010zfi.1_Missense_Mutation_p.E5532Q|TTN_uc010zfj.1_Missense_Mutation_p.E5407Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12831 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTCATCTTCAAAAGCAGCT 0.388 NaN 0 0 0 0.001855 0 14 113 TTN 7273 broad.mit.edu 37 2 179575936 179575936 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:179575936C>G uc010zfg.1 - 94 24519 c.24295G>C c.(24295-24297)GAC>CAC p.D8099H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D4760H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9026 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGGGCTGTCTTTCAATGGC 0.423 NaN 0 0 0 0.00333 0 17 227 TTN 7273 broad.mit.edu 37 2 179577067 179577067 + Silent SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:179577067G>T uc010zfg.1 - 92 24074 c.23850C>A c.(23848-23850)TCC>TCA p.S7950S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S4611S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8877 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGCTGAACAGGAATCTTTTC 0.388 NaN 1 0 4.47668e-21 0.003954 4.9752e-21 20 243 CCDC141 285025 broad.mit.edu 37 2 179720159 179720159 + Missense_Mutation SNP T T A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:179720159T>A uc002unf.1 - 9 1307 c.1250A>T c.(1249-1251)AAA>ATA p.K417I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 417 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) ATCCACATGTTTTTGCAAATC 0.343 NaN 0 0 0 0.000602 0 4 73 NEUROD1 4760 broad.mit.edu 37 2 182543034 182543034 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:182543034G>A uc002uof.2 - 2 790 c.554C>T c.(553-555)GCG>GTG p.A185V CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 185 A -> G (in Ref. 2; BAA11558 and 5; BAA87605). amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) CAGGCAGCCCGCAACCAGGTT 0.612 NaN 0 0 0 0.001168 0 6 59 NUP35 129401 broad.mit.edu 37 2 183993048 183993048 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:183993048C>T uc002upf.2 + 2 177 c.74C>T c.(73-75)TCT>TTT p.S25F NUP35_uc010zfs.1_Missense_Mutation_p.S7F|NUP35_uc010zft.1_5'UTR|NUP35_uc002upg.2_RNA NM_138285 NP_612142 Q8NFH5 NUP53_HUMAN nucleoporin 35kDa 25 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane 0 TCACCCACATCTCCAAAGCCA 0.418 NaN 0 0 0 0.000602 0 5 55 WDR75 84128 broad.mit.edu 37 2 190333285 190333285 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:190333285G>A uc002uql.1 + 15 1773 c.1713G>A c.(1711-1713)CTG>CTA p.L571L WDR75_uc002uqm.1_Silent_p.L507L|WDR75_uc002uqn.1_Silent_p.L349L|WDR75_uc002uqo.1_Silent_p.L349L NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 571 WD 9. nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) GGAATCTGCTGAGCTGTGCAT 0.388 NaN 0 0 0 0.008291 0 8 130 FAM126B 285172 broad.mit.edu 37 2 201853102 201853102 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:201853102C>T uc002uws.3 - 11 1062 c.874G>A c.(874-876)GAT>AAT p.D292N FAM126B_uc002uwu.2_Missense_Mutation_p.D210N|FAM126B_uc002uwv.2_Missense_Mutation_p.D292N NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 292 intracellular ovary(1) 1 TGTGTAGAATCAGGAGCATCA 0.378 NaN 0 0 0 0.000978 0 9 89 MAP2 4133 broad.mit.edu 37 2 210560669 210560669 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:210560669G>A uc002vde.1 + 7 4023 c.3775G>A c.(3775-3777)GAC>AAC p.D1259N MAP2_uc002vdc.1_Missense_Mutation_p.D1259N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D1255N NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1259 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TCAGATAACTGACCTGGGTGT 0.483 NaN 0 0 0 0.003163 0 14 84 TMEM169 92691 broad.mit.edu 37 2 216965210 216965210 + Nonsense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:216965210C>G uc010zjr.1 + 4 1165 c.839C>G c.(838-840)TCA>TGA p.S280* TMEM169_uc010zjs.1_Nonsense_Mutation_p.S280*|TMEM169_uc002vfw.2_Nonsense_Mutation_p.S280*|TMEM169_uc002vfv.3_Nonsense_Mutation_p.S280* NM_001142310 NP_001135782 Q96HH4 TM169_HUMAN transmembrane protein 169 280 Extracellular (Potential). integral to membrane ovary(1) 1 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACAATATCTCAAGCACTCTC 0.512 NaN 0 0 0 0.00308 0 7 84 IHH 3549 broad.mit.edu 37 2 219925066 219925066 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:219925066G>A uc002vjo.1 - 1 124 c.124C>T c.(124-126)CGC>TGC p.R42C hsa-mir-3131|MI0014151_5'Flank NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 42 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACGAGTTTGCGTGGCGGTCGC 0.692 NaN 0 0 0 0.004672 0 3 47 ABCB6 10058 broad.mit.edu 37 2 220077977 220077977 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr2:220077977G>A uc002vkc.1 - 12 2068 c.1791C>T c.(1789-1791)TTC>TTT p.F597F ABCB6_uc010fwe.1_Silent_p.F551F NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 597 ABC transporter. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGCATAGCTGAAGTGCACGT 0.537 NaN 0 0 0 0.001984 0 6 45 FASTKD5 60493 broad.mit.edu 37 20 3128235 3128235 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:3128235G>C uc002whz.2 - 2 1793 c.1482C>G c.(1480-1482)CTC>CTG p.L494L uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 494 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 ACCCTGGACTGAGAGCGAAAT 0.473 NaN 0 0 0 0.001168 0 6 74 ATRN 8455 broad.mit.edu 37 20 3562848 3562848 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:3562848G>A uc002wim.2 + 16 2701 c.2611G>A c.(2611-2613)GAT>AAT p.D871N ATRN_uc002wil.2_Missense_Mutation_p.D871N NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 871 Extracellular (Potential).|C-type lectin. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 GTGCTGGGAAGATATGTCCCC 0.468 NaN 0 0 0 0.00245 0 12 94 ATRN 8455 broad.mit.edu 37 20 3562949 3562949 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:3562949G>A uc002wim.2 + 16 2802 c.2712G>A c.(2710-2712)CTG>CTA p.L904L ATRN_uc002wil.2_Silent_p.L904L NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 904 Extracellular (Potential).|C-type lectin. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 CTCGGGGACTGAAGGCTGCAA 0.453 NaN 0 0 0 0.006214 0 10 176 ABHD12 26090 broad.mit.edu 37 20 25275652 25275652 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:25275652G>A uc002wuq.2 - 13 1310 c.1172C>T c.(1171-1173)CCA>CTA p.P391L ABHD12_uc002wur.2_Missense_Mutation_p.P390L|PYGB_uc002wup.2_Intron NM_015600 NP_056415 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 isoform b Error:Variant_position_missing_in_Q8N2K0_after_alignment integral to membrane acylglycerol lipase activity skin(1) 1 GCTGGAACCTGGGCCCTGCTG 0.473 NaN OREG0025844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 9 211 PIGU 128869 broad.mit.edu 37 20 33222438 33222438 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:33222438G>C uc002xas.2 - 6 710 c.510C>G c.(508-510)TTC>TTG p.F170L PIGU_uc010zul.1_Missense_Mutation_p.F170L|PIGU_uc002xat.2_Missense_Mutation_p.F150L|PIGU_uc010gev.1_RNA NM_080476 NP_536724 Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, 170 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane 0 TAGTCAAAATGAAGAAAGCAA 0.403 NaN 0 0 0 0.008291 0 7 91 NCOA6 23054 broad.mit.edu 37 20 33356291 33356291 + Nonsense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:33356291C>A uc002xav.2 - 6 3061 c.490G>T c.(490-492)GGA>TGA p.G164* NCOA6_uc002xaw.2_Nonsense_Mutation_p.G164*|NCOA6_uc010gew.1_Nonsense_Mutation_p.G164* NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 164 TBP/GTF2A-binding region.|NCOA1-binding region.|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 ATAGGAAATCCCGCCTCCATC 0.458 NaN 1 0 3.52763e-06 0.00499 3.7613e-06 14 125 SRC 6714 broad.mit.edu 37 20 36022668 36022668 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:36022668G>A uc002xgx.2 + 7 990 c.541G>A c.(541-543)GAG>AAG p.E181K SRC_uc002xgy.2_Missense_Mutation_p.E181K NM_005417 NP_005408 P12931 SRC_HUMAN proto-oncogene tyrosine-protein kinase SRC 181 SH2. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1) 13 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) GCGAGAAAGTGAGACCACGAA 0.448 NaN 0 0 0 0.006214 0 8 85 L3MBTL 26013 broad.mit.edu 37 20 42161536 42161536 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:42161536G>C uc010zwh.1 + 12 1388 c.1342G>C c.(1342-1344)GAC>CAC p.D448H L3MBTL_uc002xkl.2_Missense_Mutation_p.D380H|L3MBTL_uc002xkm.2_Missense_Mutation_p.D380H|L3MBTL_uc010ggl.2_Missense_Mutation_p.D380H|L3MBTL_uc002xkn.1_Missense_Mutation_p.D139H|L3MBTL_uc002xko.2_Missense_Mutation_p.D32H NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 380 MBT 2.|Interaction with monomethylated and dimethylated peptides. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGTGCACTTTGACAACTGGGA 0.582 NaN 0 0 0 0.004482 0 9 93 L3MBTL 26013 broad.mit.edu 37 20 42162962 42162962 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:42162962G>A uc010zwh.1 + 15 1618 c.1572G>A c.(1570-1572)GAG>GAA p.E524E L3MBTL_uc002xkl.2_Silent_p.E456E|L3MBTL_uc002xkm.2_Silent_p.E456E|L3MBTL_uc010ggl.2_Silent_p.E456E|L3MBTL_uc002xkn.1_Silent_p.E215E|L3MBTL_uc002xko.2_Silent_p.E108E NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 456 MBT 3. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGAAGCTGGAGGCTGTGGACC 0.632 NaN 0 0 0 0.004482 0 6 101 NCOA3 8202 broad.mit.edu 37 20 46255875 46255875 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:46255875G>A uc002xtk.2 + 6 692 c.487G>A c.(487-489)GAA>AAA p.E163K NCOA3_uc010ght.1_Missense_Mutation_p.E163K|NCOA3_uc002xtl.2_Missense_Mutation_p.E163K|NCOA3_uc002xtm.2_Missense_Mutation_p.E163K|NCOA3_uc002xtn.2_Missense_Mutation_p.E163K|NCOA3_uc010zyc.1_5'UTR NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 163 PAS. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 TATCTTACATGAAGAAGACAG 0.313 NaN 0 0 0 0.001168 0 4 67 NCOA3 8202 broad.mit.edu 37 20 46255881 46255881 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:46255881G>A uc002xtk.2 + 6 698 c.493G>A c.(493-495)GAC>AAC p.D165N NCOA3_uc010ght.1_Missense_Mutation_p.D165N|NCOA3_uc002xtl.2_Missense_Mutation_p.D165N|NCOA3_uc002xtm.2_Missense_Mutation_p.D165N|NCOA3_uc002xtn.2_Missense_Mutation_p.D165N|NCOA3_uc010zyc.1_5'UTR NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 165 PAS. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 ACATGAAGAAGACAGAAAGGA 0.308 NaN 0 0 0 0.009096 0 4 63 CSE1L 1434 broad.mit.edu 37 20 47706239 47706239 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:47706239G>A uc002xty.2 + 19 2271 c.2137G>A c.(2137-2139)GAA>AAA p.E713K CSE1L_uc010zyg.1_Missense_Mutation_p.E496K|CSE1L_uc010ghx.2_Missense_Mutation_p.E657K|CSE1L_uc010ghy.2_Missense_Mutation_p.E334K|CSE1L_uc010zyh.1_Missense_Mutation_p.E362K NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 713 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AGCATTCTTAGAACGCGGTTC 0.418 NaN 0 0 0 0.006214 0 7 108 STAU1 6780 broad.mit.edu 37 20 47734330 47734330 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:47734330C>T uc002xud.2 - 11 1904 c.1493G>A c.(1492-1494)AGA>AAA p.R498K STAU1_uc002xua.2_Missense_Mutation_p.R417K|STAU1_uc002xub.2_Missense_Mutation_p.R423K|STAU1_uc002xuc.2_Missense_Mutation_p.R417K|STAU1_uc002xue.2_Missense_Mutation_p.R417K|STAU1_uc002xuf.2_Missense_Mutation_p.R423K|STAU1_uc002xug.2_Missense_Mutation_p.R498K NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 498 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TCCCTGGACTCTGGAAAGATA 0.498 NaN 0 0 0 0.006214 0 9 68 APCDD1L 164284 broad.mit.edu 37 20 57042196 57042196 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:57042196G>T uc002xze.1 - 3 893 c.707C>A c.(706-708)CCC>CAC p.P236H APCDD1L_uc010zzp.1_Missense_Mutation_p.P247H NM_153360 NP_699191 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 236 integral to membrane ovary(1) 1 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) GTAGCCCGTGGGCCGGTAGTG 0.731 NaN 1 0 3.32936e-07 0.006122 3.5575e-07 14 81 TIAM1 7074 broad.mit.edu 37 21 32617916 32617916 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr21:32617916G>T uc002yow.1 - 7 1944 c.1472C>A c.(1471-1473)CCC>CAC p.P491H TIAM1_uc011adk.1_Missense_Mutation_p.P491H|TIAM1_uc011adl.1_Missense_Mutation_p.P491H|TIAM1_uc002yox.1_Missense_Mutation_p.P99H NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 491 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GGCGTGTTTGGGGATGCTGTT 0.552 NaN 1 0 4.096e-09 0.001168 4.44327e-09 5 56 UMODL1 89766 broad.mit.edu 37 21 43496222 43496222 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr21:43496222G>A uc002zaf.1 + 2 185 c.185G>A c.(184-186)GGC>GAC p.G62D UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Missense_Mutation_p.G62D|uc002zah.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 62 Extracellular (Potential).|EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 GTGTCCTGCGGCGGCTGGATC 0.607 NaN 0 0 0 0.001168 0 5 77 ABCG1 9619 broad.mit.edu 37 21 43691217 43691217 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr21:43691217C>G uc002zaq.2 + 3 430 c.324C>G c.(322-324)TTC>TTG p.F108L ABCG1_uc002zan.2_Missense_Mutation_p.F110L|ABCG1_uc002zam.2_Missense_Mutation_p.F86L|ABCG1_uc002zao.2_Missense_Mutation_p.F105L|ABCG1_uc002zap.2_Missense_Mutation_p.F108L|ABCG1_uc002zar.2_Missense_Mutation_p.F119L|ABCG1_uc011aev.1_Missense_Mutation_p.F119L NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 108 Cytoplasmic (Potential).|ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) CCGGGAAGTTCAATAGTGGTG 0.473 NaN 0 0 0 0.003163 0 12 125 CRYBB3 1417 broad.mit.edu 37 22 25599847 25599847 + Silent SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr22:25599847C>G uc003abo.1 + 4 384 c.312C>G c.(310-312)CTC>CTG p.L104L NM_004076 NP_004067 P26998 CRBB3_HUMAN crystallin, beta B3 104 Beta/gamma crystallin 'Greek key' 2. visual perception protein binding|structural constituent of eye lens 0 TTCTGTCCCTCCGGCCTCTGA 0.582 NaN 0 0 0 0.002836 0 27 260 PLA2G3 50487 broad.mit.edu 37 22 31533774 31533774 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr22:31533774G>A uc003aka.2 - 4 1117 c.988C>T c.(988-990)CAG>TAG p.Q330* NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 330 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 ATAGGGTCCTGGAGGGCTGTG 0.627 NaN 0 0 0 0.003163 0 12 176 MYH9 4627 broad.mit.edu 37 22 36712697 36712697 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr22:36712697C>T uc003apg.2 - 12 1476 c.1245G>A c.(1243-1245)GAG>GAA p.E415E MYH9_uc003aph.1_Silent_p.E279E NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 415 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TGGCCAAGGCCTCGATGGCAA 0.478 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.001168 0 5 59 ADSL 158 broad.mit.edu 37 22 40755278 40755278 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr22:40755278C>G uc003ayp.3 + 6 728 c.669C>G c.(667-669)GAC>GAG p.D223E ADSL_uc003ays.3_Missense_Mutation_p.D223E|ADSL_uc003ayq.3_Missense_Mutation_p.D223E|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.D208E|ADSL_uc010gyb.1_RNA NM_000026 NP_000017 P30566 PUR8_HUMAN adenylosuccinate lyase isoform a 223 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity ovary(1) 1 AGCAGCTTGACAAGATGGTGA 0.443 NaN 0 0 0 0.00499 0 13 186 SCUBE1 80274 broad.mit.edu 37 22 43619192 43619192 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr22:43619192G>A uc003bdt.1 - 11 1326 c.1238C>T c.(1237-1239)ACC>ATC p.T413I NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 413 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) CCGGGGGGAGGTCTTGGCGCG 0.642 NaN 0 0 0 0.008871 0 15 205 HRH1 3269 broad.mit.edu 37 3 11301168 11301168 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:11301168C>T uc010hdr.2 + 2 787 c.445C>T c.(445-447)CTG>TTG p.L149L HRH1_uc010hds.2_Silent_p.L149L|HRH1_uc010hdt.2_Silent_p.L149L|HRH1_uc003bwb.3_Silent_p.L149L NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 149 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GGCCACCATTCTGGGGGCCTG 0.542 NaN 0 0 0 0.001168 0 6 97 NUP210 23225 broad.mit.edu 37 3 13401814 13401814 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:13401814G>T uc003bxv.1 - 15 2193 c.2110C>A c.(2110-2112)CAG>AAG p.Q704K NUP210_uc003bxx.2_Missense_Mutation_p.Q376K NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 704 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CAGTGTTGCTGATAATTCCGG 0.567 NaN 1 0 1.96292e-10 0.010504 2.14802e-10 18 79 ARPP21 10777 broad.mit.edu 37 3 35729240 35729240 + Missense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:35729240C>A uc003cgb.2 + 6 535 c.271C>A c.(271-273)CAT>AAT p.H91N ARPP21_uc003cga.2_Missense_Mutation_p.H91N|ARPP21_uc011axy.1_Missense_Mutation_p.H91N|ARPP21_uc003cgf.2_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 91 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GGAATCAATTCATTTACAGCT 0.338 NaN 1 0 1.15088e-07 0.004007 1.23503e-07 11 92 TRANK1 9881 broad.mit.edu 37 3 36896768 36896768 + Missense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:36896768C>A uc003cgj.2 - 3 2965 c.2663G>T c.(2662-2664)CGC>CTC p.R888L NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1438 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GAACAGAGAGCGCAGATCGCT 0.542 NaN 1 0 9.95505e-16 0.002299 1.1039e-15 21 133 VILL 50853 broad.mit.edu 37 3 38048129 38048129 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:38048129G>A uc003chj.2 + 19 2681 c.2395G>A c.(2395-2397)GAA>AAA p.E799K VILL_uc003chl.2_Missense_Mutation_p.E799K NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 799 HP. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CCTGCGCCGGGAACAACTGAT 0.657 NaN 0 0 0 0.00278 0 21 74 DLEC1 9940 broad.mit.edu 37 3 38163892 38163892 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:38163892C>G uc003cho.1 + 37 5278 c.5257C>G c.(5257-5259)CAC>GAC p.H1753D DLEC1_uc003chp.1_Silent_p.L1711L|DLEC1_uc010hgv.1_Missense_Mutation_p.H1756D|DLEC1_uc003chr.1_Missense_Mutation_p.H824D|DLEC1_uc003chs.1_Silent_p.L268L NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1753 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CATGTTGCCTCACCAGCCCTG 0.602 NaN 0 0 0 0.006214 0 7 121 TRAK1 22906 broad.mit.edu 37 3 42226217 42226217 + Nonsense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:42226217C>A uc003cky.2 + 4 620 c.404C>A c.(403-405)TCG>TAG p.S135* TRAK1_uc011azh.1_Nonsense_Mutation_p.S135*|TRAK1_uc011azi.1_Nonsense_Mutation_p.S135*|TRAK1_uc003ckz.3_Nonsense_Mutation_p.S61*|TRAK1_uc011azj.1_Nonsense_Mutation_p.S61*|TRAK1_uc003cla.2_Nonsense_Mutation_p.S77* NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 135 Potential.|HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 ATCGGCCAGTCGTTGTTGAAG 0.507 NaN 1 0 1.36491e-13 0.001855 1.50684e-13 12 180 TRAK1 22906 broad.mit.edu 37 3 42226284 42226284 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:42226284C>T uc003cky.2 + 4 687 c.471C>T c.(469-471)ATC>ATT p.I157I TRAK1_uc011azh.1_Silent_p.I157I|TRAK1_uc011azi.1_Silent_p.I157I|TRAK1_uc003ckz.3_Silent_p.I83I|TRAK1_uc011azj.1_Silent_p.I83I|TRAK1_uc003cla.2_Silent_p.I99I NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 157 Potential.|HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 TGGAACACATCAGGGAGGAGG 0.582 NaN 0 0 0 0.000978 0 10 165 PTH1R 5745 broad.mit.edu 37 3 46942574 46942574 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:46942574G>A uc003cqm.2 + 11 1251 c.1048G>A c.(1048-1050)GGG>AGG p.G350R PTH1R_uc003cqn.2_Missense_Mutation_p.G350R NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 350 Extracellular (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 GGCCAACACCGGGTAGGTCCA 0.627 NaN Ollier_disease_/_Maffuci_syndrome 0 0 0 0.004672 0 3 15 QARS 5859 broad.mit.edu 37 3 49137079 49137079 + Missense_Mutation SNP G G A rs141072684 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:49137079G>A uc003cvx.2 - 16 1395 c.1390C>T c.(1390-1392)CGC>TGC p.R464C QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.R319C|QARS_uc003cvy.2_Missense_Mutation_p.R319C|QARS_uc011bce.1_Missense_Mutation_p.R453C NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 464 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) TAGGAAGAGCGTCTGGGGTGG 0.572 NaN 0 0 0 0.00499 0 16 44 ITIH3 3699 broad.mit.edu 37 3 52836749 52836749 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:52836749C>T uc003dfv.2 + 13 1672 c.1636C>T c.(1636-1638)CGG>TGG p.R546W ITIH3_uc011bek.1_Intron NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 546 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CCTGCAGGAGCGGGACTACAT 0.602 NaN 0 0 0 0.006214 0 8 97 SLMAP 7871 broad.mit.edu 37 3 57908654 57908654 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:57908654G>A uc003dje.1 + 21 2503 c.2298G>A c.(2296-2298)TTG>TTA p.L766L SLMAP_uc003djd.1_Silent_p.L749L|SLMAP_uc003djf.1_Silent_p.L728L|SLMAP_uc003djg.1_Silent_p.L360L|SLMAP_uc011bez.1_Silent_p.L234L|SLMAP_uc011bfa.1_Silent_p.L300L|SLMAP_uc003dji.1_Silent_p.L300L|SLMAP_uc011bfb.1_Silent_p.L300L|SLMAP_uc011bfc.1_Silent_p.L259L NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 766 Cytoplasmic (Potential).|Potential. muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) AACTGAAGTTGAAGTTTGAAA 0.368 NaN 0 0 0 0.009096 0 4 77 CNTN3 5067 broad.mit.edu 37 3 74535680 74535680 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:74535680T>C uc003dpm.1 - 3 365 c.285A>G c.(283-285)ACA>ACG p.T95T NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 95 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GGTAAGTTCCTGTATCCCAAT 0.373 NaN 0 0 0 0.001984 0 5 88 GBE1 2632 broad.mit.edu 37 3 81586104 81586104 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:81586104C>T uc003dqg.2 - 14 2044 c.1761G>A c.(1759-1761)ATG>ATA p.M587I GBE1_uc011bgm.1_Missense_Mutation_p.M546I NM_000158 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 587 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(3) 3 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CCAATCTATTCATATCCCTGT 0.413 NaN Glycogen_Storage_Disease_type_IV 0 0 0 0.001168 0 5 88 OR5H2 79310 broad.mit.edu 37 3 98002337 98002337 + Silent SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:98002337A>G uc003dsj.1 + 1 606 c.606A>G c.(604-606)CTA>CTG p.L202L NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 TTAATTTTCTAATGGTTTTTA 0.308 NaN 0 0 0 0.003163 0 13 42 OR5K2 402135 broad.mit.edu 37 3 98217064 98217064 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:98217064T>C uc011bgx.1 + 1 540 c.540T>C c.(538-540)GAT>GAC p.D180D NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TTTACTGTGATACTCTTCCCT 0.403 NaN 0 0 0 0.004007 0 13 272 CLDND1 56650 broad.mit.edu 37 3 98235645 98235645 + Missense_Mutation SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:98235645T>C uc003dsp.2 - 5 1500 c.620A>G c.(619-621)AAT>AGT p.N207S CLDND1_uc003dso.2_Intron|CLDND1_uc003dsq.2_Missense_Mutation_p.N207S|CLDND1_uc003dss.2_Missense_Mutation_p.N207S|CLDND1_uc003dsr.2_Missense_Mutation_p.N112S|CLDND1_uc003dst.2_Missense_Mutation_p.N230S|CLDND1_uc003dsu.2_Missense_Mutation_p.N207S|CLDND1_uc003dsv.2_Missense_Mutation_p.N207S NM_019895 NP_063948 Q9NY35 CLDN1_HUMAN claudin domain containing 1 protein isoform a 207 integral to membrane ovary(1) 1 ACCGGATACATTGTCAGGGAG 0.478 NaN 0 0 0 0.00499 0 14 69 RG9MTD1 54931 broad.mit.edu 37 3 101283942 101283942 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:101283942G>C uc003duz.2 + 2 465 c.317G>C c.(316-318)AGA>ACA p.R106T NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 106 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 TTGCTTGGCAGAGAAGTACCA 0.373 NaN 0 0 0 0.001368 0 9 116 KIAA1524 57650 broad.mit.edu 37 3 108273331 108273331 + Missense_Mutation SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:108273331T>C uc003dxb.3 - 18 2485 c.2216A>G c.(2215-2217)GAA>GGA p.E739G NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 739 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 TTCAGTACTTTCATTTCTGAA 0.323 NaN 0 0 0 0.004672 0 2 8 SLC35A5 55032 broad.mit.edu 37 3 112299549 112299549 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:112299549C>T uc003dze.2 + 6 830 c.585C>T c.(583-585)TTC>TTT p.F195F NM_017945 NP_060415 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 195 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 GCCTTCTTTTCAGAAGTGAGT 0.463 NaN 0 0 0 0.000978 0 10 70 ZXDC 79364 broad.mit.edu 37 3 126157291 126157291 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:126157291G>A uc003eiv.2 - 10 2558 c.2504C>T c.(2503-2505)TCA>TTA p.S835L ZXDC_uc010hsh.2_RNA NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 835 Interaction with CIITA. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) GCCTCCAGATGAGGGGAGCAC 0.627 NaN 0 0 0 0.000602 0 4 33 NPHP3 27031 broad.mit.edu 37 3 132418250 132418250 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:132418250C>T uc003epe.1 - 13 2009 c.1932G>A c.(1930-1932)GTG>GTA p.V644V NPHP3_uc003epd.1_5'UTR NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 644 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CTCTTACATTCACTGGCAGTG 0.323 NaN 0 0 0 0.00308 0 6 58 SLCO2A1 6578 broad.mit.edu 37 3 133661560 133661560 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:133661560C>T uc003eqa.3 - 11 1788 c.1514G>A c.(1513-1515)GGA>GAA p.G505E SLCO2A1_uc003eqb.3_Missense_Mutation_p.G429E|SLCO2A1_uc011blv.1_Missense_Mutation_p.G324E NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 505 Extracellular (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 AGGGCACGATCCTGTCTTTGC 0.532 NaN 0 0 0 0.008361 0 22 122 TIPARP 25976 broad.mit.edu 37 3 156395594 156395594 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:156395594G>A uc003fav.2 + 2 356 c.108G>A c.(106-108)TTG>TTA p.L36L LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Silent_p.L36L NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 36 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|breast(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TCACTCCATTGAAGACTTGTT 0.448 NaN 0 0 0 0.006214 0 8 76 PIK3CA 5290 broad.mit.edu 37 3 178927486 178927486 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:178927486G>A uc003fjk.2 + 7 1406 c.1249G>A c.(1249-1251)GAG>AAG p.E417K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 417 C2 PI3K-type. 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 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) GGGTGCTAAAGAGGTAAAGTA 0.343 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.003163 0 14 91 MFN1 55669 broad.mit.edu 37 3 179080190 179080190 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:179080190G>A uc003fjs.2 + 5 582 c.456G>A c.(454-456)TTG>TTA p.L152L MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.L180L|MFN1_uc010hxc.2_Silent_p.L5L NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 152 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ACAAAGATTTGAAAGCTGGCT 0.383 NaN 0 0 0 0.006214 0 7 94 MCCC1 56922 broad.mit.edu 37 3 182769981 182769981 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:182769981G>A uc003fle.2 - 9 1058 c.921C>T c.(919-921)GTC>GTT p.V307V MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.V190V|MCCC1_uc003flg.2_Silent_p.V198V|MCCC1_uc011bqp.1_Silent_p.V260V|MCCC1_uc011bqq.1_Silent_p.V198V NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 307 Biotin carboxylation.|ATP-grasp. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) TAGCAGCTCTGACTGCAGCTT 0.348 NaN 0 0 0 0.008291 0 7 81 TNK2 10188 broad.mit.edu 37 3 195608974 195608974 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:195608974G>A uc003fvu.1 - 6 1378 c.835C>T c.(835-837)CAG>TAG p.Q279* TNK2_uc003fvs.1_Nonsense_Mutation_p.Q311*|TNK2_uc003fvt.1_Nonsense_Mutation_p.Q342*|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Nonsense_Mutation_p.Q109*|TNK2_uc010hzx.1_Intron NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 279 Protein kinase. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TCGTCATTCTGAGGTAGTGCT 0.602 NaN 0 0 0 0.00308 0 6 77 GAK 2580 broad.mit.edu 37 4 844870 844870 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:844870G>A uc003gbm.3 - 26 3710 c.3511C>T c.(3511-3513)CAA>TAA p.Q1171* GAK_uc003gbn.3_Nonsense_Mutation_p.Q1092*|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Nonsense_Mutation_p.Q396*|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Nonsense_Mutation_p.Q1024* NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 1171 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) TTTGGCTTTTGAGCTAGAAAA 0.264 NaN 0 0 0 0.000602 0 5 64 HTT 3064 broad.mit.edu 37 4 3214330 3214330 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:3214330G>A uc011bvq.1 + 50 6819 c.6674G>A c.(6673-6675)CGG>CAG p.R2225Q NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2223 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ACTCTGGCCCGGGCCCTGGCA 0.552 NaN 0 0 0 0.008871 0 17 235 C4orf50 389197 broad.mit.edu 37 4 5961300 5961300 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:5961300G>A uc003git.1 - 7 723 c.633C>T c.(631-633)GTC>GTT p.V211V NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 211 pancreas(2)|breast(1) 3 GTTCCACAGTGACCGCTGCCA 0.577 NaN 0 0 0 0.001984 0 5 44 KIAA0232 9778 broad.mit.edu 37 4 6843853 6843853 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:6843853G>A uc003gjr.3 + 4 754 c.291G>A c.(289-291)AAG>AAA p.K97K KIAA0232_uc003gjq.3_Silent_p.K97K NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 97 ATP binding ovary(2) 2 GAAAGAGTAAGAAAAAATGTT 0.388 NaN 0 0 0 0.000978 0 10 104 BOD1L 259282 broad.mit.edu 37 4 13605601 13605601 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:13605601C>G uc003gmz.1 - 10 3040 c.2923G>C c.(2923-2925)GAG>CAG p.E975Q BOD1L_uc010idr.1_Missense_Mutation_p.E312Q NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 975 Lys-rich. DNA binding ovary(5)|breast(1) 6 GAAGCAGTCTCTAATACAGGT 0.378 NaN 0 0 0 0.00499 0 12 177 BOD1L 259282 broad.mit.edu 37 4 13605643 13605643 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:13605643C>T uc003gmz.1 - 10 2998 c.2881G>A c.(2881-2883)GAA>AAA p.E961K BOD1L_uc010idr.1_Missense_Mutation_p.E298K NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 961 Lys-rich. DNA binding ovary(5)|breast(1) 6 GGTTTGTCTTCAACTTTAGAC 0.398 NaN 0 0 0 0.006214 0 9 143 UGDH 7358 broad.mit.edu 37 4 39512009 39512009 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:39512009G>C uc003guk.1 - 5 943 c.627C>G c.(625-627)CTC>CTG p.L209L UGDH_uc011byp.1_Silent_p.L112L|UGDH_uc003gul.1_Silent_p.L142L NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 209 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) TATTAGTGGTGAGGATCTTTT 0.423 NaN 0 0 0 0.008291 0 7 119 DCAF4L1 285429 broad.mit.edu 37 4 41984112 41984112 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:41984112C>G uc003gwk.2 + 1 400 c.303C>G c.(301-303)ATC>ATG p.I101M NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 101 skin(1) 1 AGTACGGCATCATCAGCCTGC 0.557 NaN 0 0 0 0.001984 0 6 62 GABRA2 2555 broad.mit.edu 37 4 46334652 46334652 + Missense_Mutation SNP G G T rs76519302 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:46334652G>T uc003gxc.3 - 3 908 c.235C>A c.(235-237)CCT>ACT p.P79T GABRA2_uc010igc.2_Missense_Mutation_p.P79T|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Missense_Mutation_p.P79T NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 79 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTGAGACAGGGCCAAAACTG 0.328 NaN 1 0 1.33987e-11 0.008291 1.47268e-11 7 123 TEC 7006 broad.mit.edu 37 4 48169865 48169865 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:48169865C>T uc003gxz.2 - 7 692 c.601G>A c.(601-603)GAG>AAG p.E201K NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 201 SH3. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 TGGCCTCTCTCTAATCTGAGA 0.403 NaN 0 0 0 0.008291 0 10 141 KDR 3791 broad.mit.edu 37 4 55958791 55958791 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:55958791G>A uc003has.2 - 22 3364 c.3062C>T c.(3061-3063)TCG>TTG p.S1021L KDR_uc003hat.1_Missense_Mutation_p.S1021L NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1021 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TACCTTTCGCGATGCCAAGAA 0.458 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 0.00308 0 7 59 CEP135 9662 broad.mit.edu 37 4 56819371 56819371 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:56819371G>C uc003hbi.2 + 3 468 c.234G>C c.(232-234)TTG>TTC p.L78F CEP135_uc003hbh.1_Missense_Mutation_p.L78F|CEP135_uc010igz.1_5'Flank NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 78 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) ATGCAAGATTGAGTAGAGAAA 0.308 NaN 0 0 0 0.000602 0 5 67 AMBN 258 broad.mit.edu 37 4 71468378 71468378 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:71468378C>T uc003hfl.2 + 7 644 c.569C>T c.(568-570)TCA>TTA p.S190L NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 190 1. bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) CAAGGTCCATCAGTAAGTACA 0.219 NaN 0 0 0 0.004482 0 5 95 GC 2638 broad.mit.edu 37 4 72634130 72634130 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:72634130C>G uc003hge.2 - 3 302 c.149G>C c.(148-150)AGA>ACA p.R50T GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.R50T|GC_uc010iif.2_Missense_Mutation_p.R69T NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 50 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GGGAAATTTTCTACTGTACAG 0.388 NaN 0 0 0 0.000602 0 4 59 MEPE 56955 broad.mit.edu 37 4 88766951 88766951 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:88766951G>A uc003hqy.2 + 4 970 c.931G>A c.(931-933)GAA>AAA p.E311K MEPE_uc010ikn.2_Missense_Mutation_p.E198K NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 311 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGAGAGAGAAGAAAATGGTGG 0.448 NaN 0 0 0 0.004482 0 8 41 INTS12 57117 broad.mit.edu 37 4 106614625 106614625 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:106614625C>T uc003hxw.2 - 5 586 c.328G>A c.(328-330)GAA>AAA p.E110K INTS12_uc010ilr.2_Missense_Mutation_p.E110K NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 110 snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TCAACTCCTTCAGTGATGTCT 0.378 NaN 0 0 0 0.008291 0 9 158 HADH 3033 broad.mit.edu 37 4 108911132 108911132 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:108911132C>T uc003hyq.2 + 1 193 c.44C>T c.(43-45)TCG>TTG p.S15L HADH_uc010ilx.2_Missense_Mutation_p.S15L|HADH_uc010ily.2_5'UTR NM_005327 NP_005318 Q16836 HCDH_HUMAN L-3-hydroxyacyl-Coenzyme A dehydrogenase 15 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) GTGTCCTCCTCGTCCACCGCC 0.687 NaN 0 0 0 0.004672 0 3 37 SPATA5 166378 broad.mit.edu 37 4 123977578 123977578 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:123977578G>C uc003iez.3 + 12 2189 c.2116G>C c.(2116-2118)GAA>CAA p.E706Q NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 706 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 TGGTGAATCTGAAAGAGCAGT 0.378 NaN 0 0 0 0.00308 0 5 55 TRIM2 23321 broad.mit.edu 37 4 154237060 154237060 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:154237060C>T uc003ing.2 + 8 1811 c.1610C>T c.(1609-1611)ACA>ATA p.T537I TRIM2_uc003inh.2_Missense_Mutation_p.T564I NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 537 NHL 2. cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) CAGCGGCCCACAGGAGTGGCT 0.448 NaN 0 0 0 0.006214 0 7 89 NPY5R 4889 broad.mit.edu 37 4 164271709 164271709 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:164271709C>T uc003iqn.2 + 4 466 c.284C>T c.(283-285)TCA>TTA p.S95L NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 95 Helical; Name=2; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) CTGTTTTGCTCACCTTTCACA 0.408 NaN 0 0 0 0.007413 0 18 286 TKTL2 84076 broad.mit.edu 37 4 164393349 164393349 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:164393349C>T uc003iqp.3 - 1 1699 c.1538G>A c.(1537-1539)GGA>GAA p.G513E NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 513 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGAGTAACTCCAGCTCCAAT 0.458 NaN 0 0 0 0.006122 0 17 140 ODZ3 55714 broad.mit.edu 37 4 183673159 183673159 + Missense_Mutation SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr4:183673159T>C uc003ivd.1 + 19 3873 c.3836T>C c.(3835-3837)GTG>GCG p.V1279A ODZ3_uc003ive.1_Missense_Mutation_p.V692A NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1279 NHL 2.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGGAAGGCCGTGGAAGCCACA 0.463 NaN 0 0 0 0.001168 0 5 23 TRIO 7204 broad.mit.edu 37 5 14399069 14399069 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:14399069C>T uc003jff.2 + 30 4510 c.4504C>T c.(4504-4506)CGA>TGA p.R1502* TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Nonsense_Mutation_p.R1453*|TRIO_uc003jfh.1_Nonsense_Mutation_p.R1151* NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1502 PH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AACCTTAATTCGAAAGGGTCG 0.398 NaN 0 0 0 0.001855 0 11 137 DAB2 1601 broad.mit.edu 37 5 39392476 39392476 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:39392476C>G uc003jlx.2 - 4 852 c.321G>C c.(319-321)GAG>GAC p.E107D DAB2_uc003jlw.2_Missense_Mutation_p.E107D NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 107 PID. cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) CCCCAGTTTTCTCATCAATTA 0.458 NaN 0 0 0 0.009096 0 3 48 HCN1 348980 broad.mit.edu 37 5 45303797 45303797 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:45303797C>T uc003jok.2 - 6 1547 c.1522G>A c.(1522-1524)GTG>ATG p.V508M NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 508 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTTTTACCCACGGCTCCTTCT 0.393 NaN 0 0 0 0.004007 0 14 92 GZMA 3001 broad.mit.edu 37 5 54404206 54404206 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:54404206G>A uc003jpm.2 + 4 648 c.611G>A c.(610-612)GGA>GAA p.G204E NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 204 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CTCCGAGGTGGAAGAGACTCG 0.378 NaN 0 0 0 0.006214 0 7 87 GZMA 3001 broad.mit.edu 37 5 54404209 54404209 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:54404209G>A uc003jpm.2 + 4 651 c.614G>A c.(613-615)AGA>AAA p.R205K NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 205 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CGAGGTGGAAGAGACTCGTGC 0.383 NaN 0 0 0 0.008291 0 8 89 CD180 4064 broad.mit.edu 37 5 66479570 66479570 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:66479570C>G uc003juy.2 - 3 1249 c.1101G>C c.(1099-1101)GAG>GAC p.E367D NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 367 Extracellular (Potential). inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity ovary(1) 1 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TTCCTAGTTTCTCCAAGCAGC 0.453 NaN 0 0 0 0.004007 0 14 123 ARSB 411 broad.mit.edu 37 5 78260315 78260315 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:78260315C>T uc003kfq.2 - 3 1900 c.614G>A c.(613-615)GGA>GAA p.G205E ARSB_uc003kfr.3_Missense_Mutation_p.G205E NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 205 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) ATTTTTATATCCTGTTGCAAC 0.373 NaN 0 0 0 0.004482 0 9 60 CHD1 1105 broad.mit.edu 37 5 98209411 98209411 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:98209411G>A uc003knf.2 - 25 3605 c.3457C>T c.(3457-3459)CGA>TGA p.R1153* CHD1_uc010jbn.2_5'UTR NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1153 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCAGCATCTCGAGCAATTGCA 0.338 NaN 0 0 0 0.008291 0 10 90 TNFAIP8 25816 broad.mit.edu 37 5 118728967 118728967 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:118728967C>T uc003ksh.2 + 3 1176 c.488C>T c.(487-489)TCA>TTA p.S163L TNFAIP8_uc003ksf.1_3'UTR|TNFAIP8_uc003ksg.2_Missense_Mutation_p.S153L|TNFAIP8_uc011cwf.1_Missense_Mutation_p.S157L|TNFAIP8_uc003ksi.2_Missense_Mutation_p.S163L NM_014350 NP_055165 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 163 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) GATCATTTTTCAGATTGTGAA 0.388 NaN 0 0 0 0.001984 0 7 122 PCDHB7 56129 broad.mit.edu 37 5 140552992 140552992 + Silent SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:140552992C>G uc003lit.2 + 1 750 c.576C>G c.(574-576)CCC>CCG p.P192P NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 192 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATATCTATCCCGAATTGGTGC 0.493 NaN 0 0 0 0.001984 0 6 84 PCDHB7 56129 broad.mit.edu 37 5 140553379 140553379 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:140553379C>T uc003lit.2 + 1 1137 c.963C>T c.(961-963)GCC>GCT p.A321A NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 321 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATTCAGGCCAAAGACGGCG 0.428 NaN 0 0 0 0.00308 0 6 78 PCDHB9 56127 broad.mit.edu 37 5 140567301 140567301 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:140567301G>C uc003liw.1 + 1 409 c.409G>C c.(409-411)GAG>CAG p.E137Q NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 137 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGCACAAAGAGATGGTCTT 0.403 NaN 0 0 0 0.001168 0 4 73 PCDHGB3 56102 broad.mit.edu 37 5 140751513 140751513 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:140751513C>T uc003ljw.1 + 1 1552 c.1552C>T c.(1552-1554)CGA>TGA p.R518* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.R518*|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 518 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCGCGCAGCGAGCCTTCGA 0.677 NaN 0 0 0 0.001168 0 5 73 HTR4 3360 broad.mit.edu 37 5 147928367 147928367 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:147928367C>T uc003lpn.2 - 4 381 c.217G>A c.(217-219)GTG>ATG p.V73M HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.V73M|HTR4_uc003lpj.1_Missense_Mutation_p.V73M|HTR4_uc003lpk.2_Missense_Mutation_p.V73M|HTR4_uc011dby.1_Missense_Mutation_p.V73M|HTR4_uc003lpl.2_Missense_Mutation_p.V73M|HTR4_uc003lpm.2_Missense_Mutation_p.V73M|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.V73M NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 73 Helical; Name=2; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) AAGGGCATCACCAGCACCGAA 0.408 NaN 0 0 0 0.001984 0 5 66 ARSI 340075 broad.mit.edu 37 5 149677553 149677553 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:149677553G>A uc003lrv.2 - 2 1523 c.934C>T c.(934-936)CGA>TGA p.R312* NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 312 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGCGTCCTCGGAGCGGCCAG 0.592 NaN 0 0 0 0.004482 0 9 78 DOCK2 1794 broad.mit.edu 37 5 169494582 169494582 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:169494582G>T uc003maf.2 + 45 4616 c.4536G>T c.(4534-4536)ATG>ATT p.M1512I DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.M1004I|DOCK2_uc003mah.2_Missense_Mutation_p.M68I NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1512 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTGATGATGATAAACCAGT 0.498 NaN 1 0 5.18039e-06 0.00308 5.50003e-06 7 103 SH3PXD2B 285590 broad.mit.edu 37 5 171765985 171765985 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:171765985G>A uc003mbr.2 - 13 2295 c.2124C>T c.(2122-2124)CGC>CGT p.R708R NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 708 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGTCCTGGGCGCGGCCAGGCC 0.627 NaN 0 0 0 0.001984 0 6 40 UIMC1 51720 broad.mit.edu 37 5 176370462 176370462 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:176370462C>T uc011dfp.1 - 10 1638 c.1471G>A c.(1471-1473)GAA>AAA p.E491K UIMC1_uc003mfc.1_Missense_Mutation_p.E368K|UIMC1_uc003mfd.1_Missense_Mutation_p.E121K|UIMC1_uc003mfg.1_Missense_Mutation_p.E210K|UIMC1_uc003mfe.1_RNA|UIMC1_uc003mff.1_Missense_Mutation_p.E121K NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 491 Necessary for interaction with NR6A1 C- terminus. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding ovary(3)|skin(1) 4 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATAGCTACTTCCTTCTCAGCA 0.433 NaN 0 0 0 0.004482 0 8 100 ADAMTS2 9509 broad.mit.edu 37 5 178541064 178541064 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr5:178541064G>T uc003mjw.2 - 22 3440 c.3440C>A c.(3439-3441)TCC>TAC p.S1147Y uc003mjv.3_5'Flank NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 1147 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATTGGTGCTGGAGGCATTGAG 0.557 NaN 1 0 2.62699e-14 0.003163 2.90658e-14 12 135 MYLK4 340156 broad.mit.edu 37 6 2683270 2683270 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:2683270G>C uc003mty.3 - 7 969 c.672C>G c.(670-672)CTC>CTG p.L224L NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 224 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(3)|ovary(1) 4 Ovarian(93;0.0412) all_hematologic(90;0.0897) GGTCCAAGTGGAGAATGTACA 0.488 NaN 0 0 0 0.003954 0 21 124 HIST1H2AD 3013 broad.mit.edu 37 6 26199108 26199108 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:26199108C>G uc003ngw.2 - 1 364 c.364G>C c.(364-366)GAG>CAG p.E122Q HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank NM_021065 NP_066409 P20671 H2A1D_HUMAN histone cluster 1, H2ad 122 nucleosome assembly nucleosome|nucleus DNA binding 0 all_hematologic(11;0.196) TGGTGACTCTCAGTCTTCTTG 0.488 NaN 0 0 0 0.003163 0 14 83 HIST1H2AG 8969 broad.mit.edu 37 6 27101102 27101102 + Silent SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:27101102C>A uc003niw.2 + 1 286 c.252C>A c.(250-252)CTC>CTA p.L84L HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 84 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 CGCGTCATCTCCAACTGGCCA 0.627 NaN 1 0 1.10923e-09 0.00278 1.20853e-09 18 144 HIST1H3H 8357 broad.mit.edu 37 6 27777942 27777942 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:27777942C>T uc003njm.2 + 1 101 c.91C>T c.(91-93)CCG>TCG p.P31S HIST1H2BL_uc003njl.2_5'Flank NM_003536 NP_003527 P68431 H31_HUMAN histone cluster 1, H3h 31 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GAAGAGCGCTCCGGCCACCGG 0.657 NaN 0 0 0 0.001168 0 5 67 HLA-G 3135 broad.mit.edu 37 6 29797699 29797699 + Silent SNP G G A rs139184078 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:29797699G>A uc003nnw.2 + 6 1180 c.1002G>A c.(1000-1002)AAG>AAA p.K334K HLA-G_uc011dmb.1_Silent_p.K306K|HLA-G_uc003raj.3_Silent_p.K339K|HLA-G_uc003nnz.3_Silent_p.K242K|HLA-G_uc010jrn.2_Silent_p.K150K|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_RNA NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 334 Cytoplasmic (Potential). antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 TGTGGAGAAAGAAGAGCTCAG 0.572 NaN 0 0 0 0.00245 0 13 89 APOM 55937 broad.mit.edu 37 6 31625244 31625244 + Missense_Mutation SNP T T G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:31625244T>G uc003nvl.2 + 4 504 c.431T>G c.(430-432)TTT>TGT p.F144C APOM_uc003nvk.2_Missense_Mutation_p.F72C NM_019101 NP_061974 O95445 APOM_HUMAN apolipoprotein M 144 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity 0 TACCAGCGCTTTCTCCTCTAC 0.562 NaN 0 0 0 0.001168 0 5 75 HSPA1A 3303 broad.mit.edu 37 6 31785445 31785445 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:31785445G>A uc003nxj.2 + 1 2155 c.1912G>A c.(1912-1914)GAG>AAG p.E638K HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc003nxi.1_Missense_Mutation_p.E473K|uc011dok.1_RNA NM_005345 NP_005336 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 638 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding ovary(1) 1 CCCCACCATTGAGGAGGTAGA 0.547 NaN 0 0 0 0.00308 0 6 83 CUL7 9820 broad.mit.edu 37 6 43012542 43012542 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:43012542C>G uc003otq.2 - 16 3423 c.3120G>C c.(3118-3120)AAG>AAC p.K1040N CUL7_uc010jyg.2_Missense_Mutation_p.K319N|CUL7_uc011dvb.1_Missense_Mutation_p.K1124N|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1040 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCCAGCAGGTCTTGCCCAGAG 0.597 NaN 0 0 0 0.00308 0 7 97 MED23 9439 broad.mit.edu 37 6 131923477 131923477 + Nonsense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:131923477G>T uc003qcs.1 - 17 2150 c.1976C>A c.(1975-1977)TCA>TAA p.S659* MED23_uc003qcq.2_Nonsense_Mutation_p.S665*|MED23_uc011eca.1_Nonsense_Mutation_p.S300*|MED23_uc003qct.1_Nonsense_Mutation_p.S665*|MED23_uc011ecb.1_RNA NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 659 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TTGTACCTCTGAGCTACCTAA 0.403 NaN 1 0 5.18039e-06 0.00308 5.50003e-06 6 70 VIP 7432 broad.mit.edu 37 6 153073417 153073417 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:153073417C>T uc003qpe.2 + 2 277 c.105C>T c.(103-105)CTC>CTT p.L35L VIP_uc003qpf.2_Silent_p.L35L|VIP_uc010kjd.2_Silent_p.L35L NM_003381 NP_003372 P01282 VIP_HUMAN vasoactive intestinal peptide isoform 1 35 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity 0 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) CTTCTGCTCTCAGGTAAGTTC 0.423 NaN 0 0 0 0.001168 0 6 41 SLC22A2 6582 broad.mit.edu 37 6 160663435 160663435 + Splice_Site SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:160663435C>G uc003qtf.2 - 8 1450 c.1280_splice c.e8-1 p.D427_splice SLC22A2_uc003qte.1_Splice_Site_p.D427_splice NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CATTGTAGATCTAAGAGGGAA 0.448 NaN 0 0 0 0.004482 0 8 65 RNASET2 8635 broad.mit.edu 37 6 167352457 167352457 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr6:167352457C>T uc003qve.2 - 6 779 c.372G>A c.(370-372)CAG>CAA p.Q124Q RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Silent_p.Q32Q|RNASET2_uc003qvg.2_Silent_p.Q61Q|RNASET2_uc003qvi.1_Missense_Mutation_p.R12K NM_003730 NP_003721 O00584 RNT2_HUMAN ribonuclease T2 precursor 124 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) GCGCATCCACCTGGGCGGCGC 0.498 NaN 0 0 0 0.001368 0 9 110 EIF2AK1 27102 broad.mit.edu 37 7 6080762 6080762 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:6080762C>T uc003spp.2 - 9 1026 c.880G>A c.(880-882)GAA>AAA p.E294K EIF2AK1_uc003spq.2_Missense_Mutation_p.E293K|EIF2AK1_uc011jwm.1_Missense_Mutation_p.E170K|EIF2AK1_uc003spr.1_Missense_Mutation_p.E86K NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 294 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) GTGTCAGATTCTCCAAAGCGT 0.408 NaN 0 0 0 0.003163 0 15 125 RAC1 5879 broad.mit.edu 37 7 6431604 6431604 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:6431604C>G uc003spx.2 + 3 398 c.157C>G c.(157-159)CTG>GTG p.L53V RAC1_uc003spw.2_Missense_Mutation_p.L53V NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 53 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) ACCGGTGAATCTGGGCTTATG 0.413 NaN 0 0 0 0.006214 0 9 129 MEOX2 4223 broad.mit.edu 37 7 15652020 15652020 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:15652020G>A uc003stc.2 - 3 1188 c.907C>T c.(907-909)CAC>TAC p.H303Y MEOX2_uc011jxw.1_Missense_Mutation_p.H303Y NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 303 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TATCATAAGTGCGCATGCTCT 0.478 NaN 0 0 0 0.004482 0 8 64 AHR 196 broad.mit.edu 37 7 17382605 17382605 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:17382605C>T uc011jxz.1 + 11 3077 c.2464C>T c.(2464-2466)CAG>TAG p.Q822* AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 822 LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) AAATAACACTCAGACTACCAC 0.368 NaN 0 0 0 0.00278 0 20 135 PDE1C 5137 broad.mit.edu 37 7 31862716 31862716 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:31862716C>T uc003tcm.1 - 14 2022 c.1553G>A c.(1552-1554)CGG>CAG p.R518Q PDE1C_uc003tcn.1_Missense_Mutation_p.R518Q|PDE1C_uc003tco.1_Missense_Mutation_p.R578Q|PDE1C_uc003tcr.2_Missense_Mutation_p.R518Q|PDE1C_uc003tcs.2_Missense_Mutation_p.R518Q NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 518 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CCATCTCTCCCGATTGATGTG 0.473 NaN 0 0 0 0.000978 0 11 185 MYO1G 64005 broad.mit.edu 37 7 45016619 45016619 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:45016619C>T uc003tmh.2 - 2 291 c.147G>A c.(145-147)GTG>GTA p.V49V MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 49 Myosin head-like. V -> M (in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes). myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 GGTAGGGGTTCACGGACACCA 0.627 NaN 0 0 0 0.004007 0 13 94 WBSCR17 64409 broad.mit.edu 37 7 71036334 71036334 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:71036334C>G uc003tvy.2 + 6 1027 c.1027C>G c.(1027-1029)CTG>GTG p.L343V WBSCR17_uc003tvz.2_Missense_Mutation_p.L42V NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 343 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AATTGGTCTTCTGGATCCTGG 0.498 NaN 0 0 0 0.008291 0 9 154 CALCR 799 broad.mit.edu 37 7 93108727 93108727 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:93108727C>T uc003umv.1 - 4 459 c.198G>A c.(196-198)ATG>ATA p.M66I CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.M48I|CALCR_uc003umw.2_Missense_Mutation_p.M48I NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 48 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GTGCATCCATCATCTTCTTTC 0.413 NaN 0 0 0 0.002299 0 16 209 STAG3 10734 broad.mit.edu 37 7 99796487 99796487 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:99796487G>A uc003utx.1 + 14 1529 c.1374G>A c.(1372-1374)GAG>GAA p.E458E STAG3_uc010lgs.1_Silent_p.E246E|STAG3_uc011kjk.1_Silent_p.E400E|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 458 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGAGTGCGAGATAAGAATGA 0.547 NaN 0 0 0 0.000978 0 9 125 CTTNBP2 83992 broad.mit.edu 37 7 117431578 117431578 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:117431578G>A uc003vjf.2 - 4 1764 c.1672C>T c.(1672-1674)CCA>TCA p.P558S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 558 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGGTGTGGTGGAGAAGGAGTT 0.502 NaN 0 0 0 0.008291 0 9 140 CADPS2 93664 broad.mit.edu 37 7 122130198 122130198 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:122130198G>A uc010lkp.2 - 11 1952 c.1789C>T c.(1789-1791)CCT>TCT p.P597S CADPS2_uc003vkg.3_Missense_Mutation_p.P297S|CADPS2_uc010lkq.2_Missense_Mutation_p.P597S NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 597 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TGAATTGCAGGAACTGGTTTA 0.368 NaN 0 0 0 0.001168 0 5 83 POT1 25913 broad.mit.edu 37 7 124503433 124503433 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:124503433C>T uc003vlm.2 - 8 1118 c.517G>A c.(517-519)GAA>AAA p.E173K POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.E42K|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 173 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 CCGTCCACTTCTGCTTTGCCC 0.388 NaN 0 0 0 0.006122 0 14 96 SMO 6608 broad.mit.edu 37 7 128845541 128845541 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:128845541G>T uc003vor.2 + 4 1118 c.838G>T c.(838-840)GGC>TGC p.G280C SMO_uc003vos.2_5'Flank NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 280 Helical; Name=2; (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 GGGCAGCATTGGCTGGCTGGC 0.582 NaN Mis skin basal cell 1 0 4.26978e-12 0.00333 4.70335e-12 19 79 LUC7L2 51631 broad.mit.edu 37 7 139026236 139026236 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:139026236C>G uc011kqt.1 + 1 340 c.106C>G c.(106-108)CGG>GGG p.R36G LUC7L2_uc011kqs.1_Intron|C7orf55_uc003vuw.3_Missense_Mutation_p.R36G NM_016019 NP_057103 Q9Y383 LC7L2_HUMAN LUC7-like 2 Error:Variant_position_missing_in_Q9Y383_after_alignment enzyme binding|metal ion binding 0 Melanoma(164;0.242) CGCGGCCTATCGGTACCTTGT 0.657 NaN OREG0018357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 8 76 SLC37A3 84255 broad.mit.edu 37 7 140051177 140051177 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:140051177C>T uc003vvo.2 - 9 944 c.778G>A c.(778-780)GAA>AAA p.E260K SLC37A3_uc003vvp.2_Missense_Mutation_p.E260K|SLC37A3_uc010lnh.2_Missense_Mutation_p.E260K|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 260 carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) TATTCGTCTTCATTTTCACCA 0.378 NaN 0 0 0 0.00245 0 10 127 SLC37A3 84255 broad.mit.edu 37 7 140051237 140051237 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:140051237C>G uc003vvo.2 - 9 884 c.718G>C c.(718-720)GAG>CAG p.E240Q SLC37A3_uc003vvp.2_Missense_Mutation_p.E240Q|SLC37A3_uc010lnh.2_Missense_Mutation_p.E240Q|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 240 carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) TCTTCTGCCTCAATACCCGAG 0.229 NaN 0 0 0 0.009096 0 4 82 BRAF 673 broad.mit.edu 37 7 140494157 140494157 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:140494157G>A uc003vwc.3 - 8 1152 c.1091C>T c.(1090-1092)TCA>TTA p.S364L NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 364 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) GGGAGCTGATGAGGATCGGTC 0.408 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 0 0 0 0.004007 0 13 123 C7orf34 135927 broad.mit.edu 37 7 142636653 142636653 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:142636653G>A uc003wca.2 + 1 51 c.10G>A c.(10-12)GAG>AAG p.E4K NM_178829 NP_849151 Q96L11 CG034_HUMAN hypothetical protein LOC135927 Error:Variant_position_missing_in_Q96L11_after_alignment extracellular region 0 Melanoma(164;0.059) AATGGGGCAGGAGGTGCACGG 0.627 NaN 0 0 0 0.001984 0 5 36 FASTK 10922 broad.mit.edu 37 7 150777000 150777000 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:150777000G>A uc003wix.1 - 2 190 c.92C>T c.(91-93)TCA>TTA p.S31L FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Missense_Mutation_p.S31L|FASTK_uc003wja.1_5'UTR NM_006712 NP_006703 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase isoform 1 31 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(2)|stomach(2) 4 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGAGTTGGGTGATGGAGACCC 0.582 NaN 0 0 0 0.001168 0 5 9 RHEB 6009 broad.mit.edu 37 7 151188091 151188091 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:151188091G>A uc003wkh.1 - 2 475 c.62C>T c.(61-63)TCA>TTA p.S21L NM_005614 NP_005605 Q15382 RHEB_HUMAN Ras homolog enriched in brain precursor 21 GTP. cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding large_intestine(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) AATCGTCAATGAGGATTTCCC 0.323 NaN 0 0 0 0.009096 0 4 69 LZTS1 11178 broad.mit.edu 37 8 20110556 20110556 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:20110556C>T uc003wzr.2 - 2 997 c.886G>A c.(886-888)GAG>AAG p.E296K LZTS1_uc010ltg.1_Missense_Mutation_p.E296K NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 296 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GGCCGCTCCTCGTAGGCCAGG 0.677 NaN 0 0 0 0.001984 0 5 47 NEFM 4741 broad.mit.edu 37 8 24776021 24776021 + Missense_Mutation SNP G G A rs150229714 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:24776021G>A uc003xed.3 + 3 2686 c.2653G>A c.(2653-2655)GAG>AAG p.E885K NEFM_uc011lac.1_Missense_Mutation_p.E667K|NEFM_uc010lue.2_Missense_Mutation_p.E509K NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 885 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAAGGTTGAAGAGCATGAAGA 0.428 NaN 0 0 0 0.006214 0 7 140 GNRH1 2796 broad.mit.edu 37 8 25280738 25280738 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:25280738C>T uc003xem.3 - 2 950 c.109G>A c.(109-111)GAT>AAT p.D37N PPP2R2A_uc003xek.2_Intron|GNRH1_uc003xen.3_Missense_Mutation_p.D37N NM_001083111 NP_001076580 P01148 GON1_HUMAN gonadotropin-releasing hormone 1 precursor 37 cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction soluble fraction gonadotropin hormone-releasing hormone activity large_intestine(1) 1 all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385) TTTTCGGCATCTCTCTTTCCT 0.408 NaN 0 0 0 0.001855 0 11 142 KIF13B 23303 broad.mit.edu 37 8 28974498 28974498 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:28974498G>A uc003xhh.3 - 31 3746 c.3687C>T c.(3685-3687)TCC>TCT p.S1229S uc003xhi.1_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1229 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CATGCACCGCGGAGTCCCAGG 0.577 NaN 0 0 0 0.001168 0 5 101 CHD7 55636 broad.mit.edu 37 8 61735145 61735145 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:61735145G>A uc003xue.2 + 12 3518 c.3041G>A c.(3040-3042)GGA>GAA p.G1014E CHD7_uc003xuf.2_Missense_Mutation_p.G127E NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1014 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TATTTGAAAGGAATCCATGGC 0.408 NaN 0 0 0 0.006122 0 15 223 CHD7 55636 broad.mit.edu 37 8 61749458 61749458 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:61749458G>A uc003xue.2 + 17 4549 c.4072G>A c.(4072-4074)GAT>AAT p.D1358N NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1358 Helicase C-terminal. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACCTGATTCTGATAGGTTTGT 0.483 NaN 0 0 0 0.00361 0 53 198 TRIM55 84675 broad.mit.edu 37 8 67040613 67040613 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:67040613T>C uc003xvv.2 + 2 469 c.243T>C c.(241-243)TGT>TGC p.C81C TRIM55_uc003xvu.2_Silent_p.C81C|TRIM55_uc003xvw.2_Silent_p.C81C|TRIM55_uc003xvx.2_Silent_p.C81C NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 81 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GCCCATCCTGTAGACATGAAG 0.498 NaN 0 0 0 0.00361 0 61 197 SLCO5A1 81796 broad.mit.edu 37 8 70744345 70744345 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:70744345G>A uc003xyl.2 - 2 1271 c.564C>T c.(562-564)TTC>TTT p.F188F SLCO5A1_uc010lzb.2_Silent_p.F188F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.F188F|SLCO5A1_uc010lzc.2_Silent_p.F188F NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 188 Helical; Name=2; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCCGGCCGCCGAAGTAGCTGA 0.642 NaN 0 0 0 0.001168 0 4 76 NBN 4683 broad.mit.edu 37 8 90990452 90990452 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:90990452C>T uc003yej.1 - 5 690 c.580G>A c.(580-582)GAA>AAA p.E194K NBN_uc003yei.1_Missense_Mutation_p.E112K|NBN_uc011lgb.1_Missense_Mutation_p.E194K NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 194 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) ATATACCTTTCAATTTGTGGA 0.323 NaN Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 0 0 0 0.000602 0 5 71 NBN 4683 broad.mit.edu 37 8 90993657 90993657 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:90993657C>T uc003yej.1 - 3 376 c.266G>A c.(265-267)CGA>CAA p.R89Q NBN_uc003yei.1_Missense_Mutation_p.R7Q|NBN_uc011lgb.1_Missense_Mutation_p.R89Q NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 89 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) CTTCAAAGTTCGGGAAAAGCC 0.333 NaN Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 0 0 0 0.004482 0 8 173 SLC26A7 115111 broad.mit.edu 37 8 92374633 92374633 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:92374633G>C uc003yex.2 + 13 1645 c.1367G>C c.(1366-1368)GGA>GCA p.G456A SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.G456A|SLC26A7_uc003yfa.2_Missense_Mutation_p.G456A NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 456 Helical; (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) GCCAATGTGGGACTGCTGTTT 0.393 NaN 0 0 0 0.003755 0 27 302 ESRP1 54845 broad.mit.edu 37 8 95658419 95658419 + Missense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:95658419C>A uc003ygq.3 + 4 582 c.399C>A c.(397-399)TTC>TTA p.F133L ESRP1_uc003ygr.3_Missense_Mutation_p.F133L|ESRP1_uc003ygs.3_Missense_Mutation_p.F133L|ESRP1_uc003ygt.3_Missense_Mutation_p.F133L|ESRP1_uc003ygu.3_Missense_Mutation_p.F133L|ESRP1_uc003ygv.2_5'UTR|ESRP1_uc003ygw.2_5'UTR NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 133 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 CTGAATGCTTCTATTCCTTTT 0.363 NaN 1 0 0.000157383 0.00308 0.000163955 7 119 MTDH 92140 broad.mit.edu 37 8 98718973 98718973 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:98718973C>T uc003yhz.2 + 8 1595 c.1267C>T c.(1267-1269)CAA>TAA p.Q423* MTDH_uc010mbf.2_RNA NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 423 Lung-homing for mammary tumors (By similarity).|Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TCCTGATGATCAAAAGGTGAG 0.323 NaN 0 0 0 0.004482 0 8 209 LRP12 29967 broad.mit.edu 37 8 105511661 105511661 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:105511661C>T uc003yma.2 - 4 454 c.359G>A c.(358-360)AGA>AAA p.R120K LRP12_uc003ymb.2_Missense_Mutation_p.R101K NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 120 Extracellular (Potential).|CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ACCACAAGCTCTGTAACTTTC 0.373 NaN 0 0 0 0.001984 0 7 102 PKHD1L1 93035 broad.mit.edu 37 8 110487424 110487424 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:110487424C>T uc003yne.2 + 51 8787 c.8683C>T c.(8683-8685)CAC>TAC p.H2895Y NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2895 Extracellular (Potential). 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) AAATGCAAATCACATTAACTG 0.338 NaN HNSCC(38;0.096) 0 0 0 0.004656 0 23 35 PKHD1L1 93035 broad.mit.edu 37 8 110495274 110495274 + Silent SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:110495274C>G uc003yne.2 + 57 9620 c.9516C>G c.(9514-9516)CTC>CTG p.L3172L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3172 Extracellular (Potential).|G8 2. 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) AAACTAAGCTCTCAGAAACTG 0.388 NaN HNSCC(38;0.096) 0 0 0 0.001984 0 5 38 CSMD3 114788 broad.mit.edu 37 8 114326926 114326926 + Missense_Mutation SNP G G T rs111400281 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:114326926G>T uc003ynu.2 - 2 434 c.275C>A c.(274-276)ACA>AAA p.T92K CSMD3_uc003ynt.2_Missense_Mutation_p.T52K|CSMD3_uc011lhx.1_Missense_Mutation_p.T92K|CSMD3_uc010mcx.1_Missense_Mutation_p.T92K|CSMD3_uc003ynx.3_Missense_Mutation_p.T92K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 92 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TATTACCCATGTGCAGTTTGC 0.343 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 1 0 4.68919e-08 0.008291 5.06473e-08 11 150 EIF2C2 27161 broad.mit.edu 37 8 141549523 141549523 + Nonsense_Mutation SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:141549523C>A uc003yvn.2 - 16 2105 c.2065G>T c.(2065-2067)GAG>TAG p.E689* EIF2C2_uc010men.2_Nonsense_Mutation_p.E612*|EIF2C2_uc010meo.2_Nonsense_Mutation_p.E689* NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 689 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) ATACAGGCCTCACGGATGGCC 0.567 NaN 1 0 2.17888e-05 0.006214 2.30841e-05 6 111 C9orf46 55848 broad.mit.edu 37 9 5358254 5358254 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:5358254G>C uc003zjc.2 - 6 633 c.429C>G c.(427-429)TTC>TTG p.F143L C9orf46_uc003zjd.2_Missense_Mutation_p.F143L NM_018465 NP_060935 Q9HBL7 CI046_HUMAN hypothetical protein LOC55848 143 integral to membrane ovary(1) 1 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125) TGTCTATGAAGAATCTACTCT 0.338 NaN 0 0 0 0.004482 0 6 112 CNTLN 54875 broad.mit.edu 37 9 17457539 17457539 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:17457539G>A uc003zmz.2 + 19 3155 c.3129G>A c.(3127-3129)TTG>TTA p.L1043L CNTLN_uc003zmy.2_Silent_p.L1044L|CNTLN_uc010mio.2_Silent_p.L723L NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1044 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) ATTTGGATTTGGCTGGGCTTC 0.254 NaN 0 0 0 0.000602 0 4 62 ADAMTSL1 92949 broad.mit.edu 37 9 18776929 18776929 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:18776929C>T uc003zne.3 + 19 2829 c.2702C>T c.(2701-2703)GCG>GTG p.A901V NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 901 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CGCTGCCCGGCGCGCAGGGTC 0.652 NaN 0 0 0 0.009096 0 4 39 DDX58 23586 broad.mit.edu 37 9 32500809 32500809 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:32500809G>A uc003zra.2 - 2 393 c.235C>T c.(235-237)CAT>TAT p.H79Y DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_5'UTR NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 79 CARD 1. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TAACCTGCATGGTCTAGGGCA 0.418 NaN 0 0 0 0.001984 0 6 114 FRMD3 257019 broad.mit.edu 37 9 86004545 86004545 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:86004545G>A uc004ams.1 - 2 428 c.226C>T c.(226-228)CGC>TGC p.R76C FRMD3_uc004amr.1_Missense_Mutation_p.R62C NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 76 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 TCCACATAGCGAATGCCAAAG 0.498 NaN 0 0 0 0.00308 0 5 95 NTRK2 4915 broad.mit.edu 37 9 87338522 87338522 + Silent SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:87338522C>T uc004aoa.1 + 9 1556 c.618C>T c.(616-618)CTC>CTT p.L206L NTRK2_uc004anv.1_Silent_p.L206L|NTRK2_uc004any.1_Silent_p.L206L|NTRK2_uc004anz.1_Silent_p.L206L|NTRK2_uc011lsz.1_Silent_p.L206L|NTRK2_uc011lta.1_Silent_p.L206L|NTRK2_uc004aob.1_Silent_p.L206L|NTRK2_uc011ltb.1_Silent_p.L50L NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 206 Extracellular (Potential).|Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 CACCTAACCTCACTGTGGAGG 0.408 NaN TSP Lung(25;0.17) 0 0 0 0.004482 0 7 73 TMEFF1 8577 broad.mit.edu 37 9 103312381 103312381 + Silent SNP A A T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:103312381A>T uc004baz.1 + 7 824 c.714A>T c.(712-714)ACA>ACT p.T238T TMEFF1_uc004bay.1_Silent_p.T312T NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two 238 Extracellular (Potential). multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) TTACAGATACAGATGACACTA 0.343 NaN 0 0 0 0.001168 0 6 75 SMC2 10592 broad.mit.edu 37 9 106894344 106894344 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:106894344C>T uc004bbv.2 + 22 3334 c.3046C>T c.(3046-3048)CTT>TTT p.L1016F SMC2_uc004bbw.2_Missense_Mutation_p.L1016F|SMC2_uc011lvl.1_Missense_Mutation_p.L1016F|SMC2_uc004bbx.2_Missense_Mutation_p.L1016F|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 1016 Potential. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 ATCCAAAATTCTTACAACTAT 0.308 NaN 0 0 0 0.009096 0 4 34 GAPVD1 26130 broad.mit.edu 37 9 128088742 128088742 + Missense_Mutation SNP C C T rs144122272 by1000genomes TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:128088742C>T uc010mwx.2 + 12 2232 c.1906C>T c.(1906-1908)CGT>TGT p.R636C GAPVD1_uc011lzs.1_Missense_Mutation_p.R636C|GAPVD1_uc004bpp.2_Missense_Mutation_p.R636C|GAPVD1_uc004bpq.2_Missense_Mutation_p.R636C|GAPVD1_uc004bpr.2_Missense_Mutation_p.R615C|GAPVD1_uc004bps.2_Missense_Mutation_p.R636C|GAPVD1_uc010mwy.1_Missense_Mutation_p.R495C NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 636 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GTTTGAAATTCGTGACATGAT 0.368 NaN 0 0 0 0.001168 0 5 89 DOLPP1 57171 broad.mit.edu 37 9 131843433 131843433 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:131843433C>G uc004bxc.2 + 1 51 c.23C>G c.(22-24)TCG>TGG p.S8W DOLPP1_uc004bxd.2_Missense_Mutation_p.S8W|DOLPP1_uc004bxe.2_RNA NM_020438 NP_065171 Q86YN1 DOPP1_HUMAN dolichyl pyrophosphate phosphatase 1 isoform a 8 dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity skin(1) 1 GGACAGTGCTCGCTCCCCGCT 0.672 NaN 0 0 0 0.00499 0 11 91 ABL1 25 broad.mit.edu 37 9 133759972 133759972 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:133759972G>A uc004bzw.2 + 11 2298 c.2295G>A c.(2293-2295)AAG>AAA p.K765K ABL1_uc004bzv.2_Silent_p.K784K NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 765 Nuclear localization signal 3 (Potential). actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TGCCTCGGAAGAGGGCAGGGG 0.582 NaN T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 0 0 0 0.00308 0 5 60 BAT2L1 84726 broad.mit.edu 37 9 134351676 134351676 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:134351676G>A uc004can.3 + 15 4215 c.4160G>A c.(4159-4161)CGG>CAG p.R1387Q BAT2L1_uc010mzj.1_Missense_Mutation_p.R970Q|BAT2L1_uc004cao.3_Missense_Mutation_p.R745Q NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1387 protein binding 0 AGCGAGCGGCGGGAGCGGCGG 0.667 NaN OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 2 2 FRMPD4 9758 broad.mit.edu 37 X 12724949 12724949 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:12724949C>G uc004cuz.1 + 12 1708 c.1202C>G c.(1201-1203)TCT>TGT p.S401C FRMPD4_uc011mij.1_Missense_Mutation_p.S393C NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 401 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CCTCAGCTCTCTGCACTACAA 0.428 NaN 0 0 0 0.004007 0 10 138 ZRSR2 8233 broad.mit.edu 37 X 15818001 15818001 + Nonsense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:15818001C>G uc004cxg.3 + 3 173 c.128C>G c.(127-129)TCA>TGA p.S43* NM_005089 NP_005080 Q15696 U2AFM_HUMAN U2 small nuclear RNA auxiliary factor 1-like 2 43 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3) 3 Hepatocellular(33;0.183) CTAGGACTCTCACAGAAGGAG 0.328 NaN 0 0 0 0.000602 0 5 66 CTPS2 56474 broad.mit.edu 37 X 16707722 16707722 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:16707722G>A uc004cxk.2 - 8 1467 c.723C>T c.(721-723)GTC>GTT p.V241V CTPS2_uc004cxl.2_Silent_p.V241V|CTPS2_uc004cxm.2_Silent_p.V241V NM_001144002 NP_001137474 Q9NRF8 PYRG2_HUMAN cytidine triphosphate synthase II 241 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity ovary(1) 1 Hepatocellular(33;0.0997) GGATACATATGACCTAAGTGG 0.388 NaN 0 0 0 0.004482 0 8 123 PPEF1 5475 broad.mit.edu 37 X 18822166 18822166 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:18822166G>A uc004cyq.2 + 14 1703 c.1222G>A c.(1222-1224)GAA>AAA p.E408K PPEF1_uc004cyp.2_Missense_Mutation_p.E380K|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Missense_Mutation_p.E408K|PPEF1_uc011mja.1_Missense_Mutation_p.E343K|PPEF1_uc011mjb.1_Missense_Mutation_p.E352K NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 408 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) ATGTAAGCCCGAAGGGTATGA 0.433 NaN 0 0 0 0.000978 0 8 99 SH3KBP1 30011 broad.mit.edu 37 X 19764521 19764521 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:19764521G>A uc004czm.2 - 3 517 c.201C>T c.(199-201)AAC>AAT p.N67N SH3KBP1_uc004czl.2_Silent_p.N30N NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 67 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 CTGGAGCTTTGTTGGTGAGAG 0.398 NaN 0 0 0 0.008871 0 16 139 DMD 1756 broad.mit.edu 37 X 32328262 32328262 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:32328262G>C uc004dda.1 - 42 6298 c.6054C>G c.(6052-6054)CTC>CTG p.L2018L DMD_uc004dcw.2_Silent_p.L674L|DMD_uc004dcx.2_Silent_p.L677L|DMD_uc004dcz.2_Silent_p.L1895L|DMD_uc004dcy.1_Silent_p.L2014L|DMD_uc004ddb.1_Silent_p.L2010L|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2018 Spectrin 14. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAGGAGCATTGAGAAGTTGTT 0.393 NaN 0 0 0 0.001984 0 5 83 SSX3 10214 broad.mit.edu 37 X 48214125 48214125 + Silent SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:48214125G>C uc004djd.1 - 3 220 c.126C>G c.(124-126)GTC>GTG p.V42V SSX3_uc004dje.2_Silent_p.V42V|SSX3_uc010nic.2_Silent_p.V42V NM_021014 NP_066294 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 isoform a 42 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 TTTTCTCCGAGACTTTCATCT 0.398 NaN 0 0 0 0.006214 0 9 127 GRIPAP1 56850 broad.mit.edu 37 X 48855860 48855860 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:48855860C>G uc004dly.1 - 2 134 c.99G>C c.(97-99)AAG>AAC p.K33N GRIPAP1_uc004dma.2_Missense_Mutation_p.K33N NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 33 Potential. early endosome breast(2)|kidney(1) 3 CAACACCATTCTTGCGTAGTT 0.552 NaN 0 0 0 0.001984 0 4 67 ITIH5L 347365 broad.mit.edu 37 X 54784222 54784222 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:54784222G>A uc004dtj.2 - 8 2315 c.2285C>T c.(2284-2286)CCT>CTT p.P762L NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 762 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 AGGTTTCACAGGTGGGACTTG 0.532 NaN 0 0 0 0.00308 0 7 97 VSIG4 11326 broad.mit.edu 37 X 65253645 65253645 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:65253645C>G uc004dwh.2 - 2 210 c.83G>C c.(82-84)AGT>ACT p.S28T VSIG4_uc004dwi.2_Missense_Mutation_p.S28T|VSIG4_uc010nkq.1_Missense_Mutation_p.S28T|VSIG4_uc004dwj.2_Missense_Mutation_p.S28T|VSIG4_uc011moy.1_Missense_Mutation_p.S28T|VSIG4_uc004dwk.2_Missense_Mutation_p.S28T|VSIG4_uc004dwl.2_5'UTR NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 28 Ig-like 1.|Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 TCCTGTTACACTCTCTGGCAC 0.532 NaN 0 0 0 0.006214 0 7 96 MAGEE2 139599 broad.mit.edu 37 X 75004685 75004685 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:75004685G>T uc004ecj.1 - 1 387 c.202C>A c.(202-204)CTG>ATG p.L68M NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 68 ovary(1)|skin(1) 2 AGGACCTCCAGGTCATTCGGG 0.567 NaN 1 0 0.00024832 0.009096 0.000257078 4 71 LPAR4 2846 broad.mit.edu 37 X 78010591 78010591 + Silent SNP T T A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:78010591T>A uc010nme.2 + 2 630 c.225T>A c.(223-225)GCT>GCA p.A75A NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 75 Helical; Name=2; (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 GTGAGACTGCTATTTTTATCA 0.393 NaN 0 0 0 0.008291 0 10 209 LPAR4 2846 broad.mit.edu 37 X 78010794 78010794 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:78010794C>G uc010nme.2 + 2 833 c.428C>G c.(427-429)CCT>CGT p.P143R NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 143 Cytoplasmic (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 ATTGTCTATCCTTTTCGATCT 0.463 NaN 0 0 0 0.001168 0 5 122 XKRX 402415 broad.mit.edu 37 X 100169786 100169786 + Missense_Mutation SNP A A T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:100169786A>T uc004egn.2 - 3 1496 c.891T>A c.(889-891)AAT>AAA p.N297K XKRX_uc011mre.1_Missense_Mutation_p.N93K NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 297 integral to membrane|plasma membrane breast(1) 1 TCTCAATGTTATTGGGCATCT 0.493 NaN 0 0 0 0.008291 0 9 162 BTK 695 broad.mit.edu 37 X 100617172 100617172 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:100617172C>T uc004ehg.2 - 7 770 c.577G>A c.(577-579)GAG>AAG p.E193K BTK_uc010nnn.2_Missense_Mutation_p.E193K|BTK_uc010nno.2_Missense_Mutation_p.E227K|BTK_uc004ehi.2_Missense_Mutation_p.E193K NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 193 calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TGGTCCTCCTCAGGCGTTGGG 0.468 NaN Agammaglobulinemia_X-linked 0 0 0 0.004482 0 7 116 RNF128 79589 broad.mit.edu 37 X 105970542 105970542 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:105970542T>C uc004eml.2 + 1 649 c.399T>C c.(397-399)CAT>CAC p.H133H RNF128_uc004emk.2_Intron NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 133 PA. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 ACAAGATCCATCTGGCTTATG 0.597 NaN 0 0 0 0.00308 0 6 78 ALG13 79868 broad.mit.edu 37 X 110970869 110970869 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:110970869G>A uc011msy.1 + 18 2152 c.2118G>A c.(2116-2118)ATG>ATA p.M706I ALG13_uc011msx.1_Missense_Mutation_p.M602I|ALG13_uc011msz.1_Missense_Mutation_p.M628I|ALG13_uc011mta.1_Missense_Mutation_p.M602I|ALG13_uc011mtb.1_Missense_Mutation_p.M602I Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 706 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 ACCGCCAGATGAGTTGTGTGA 0.358 NaN 0 0 0 0.009096 0 3 25 KIAA1210 57481 broad.mit.edu 37 X 118284333 118284333 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:118284333T>C uc004era.3 - 1 210 c.210A>G c.(208-210)GCA>GCG p.A70A NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 70 ovary(4)|skin(1) 5 GGTCAGTCACTGCAGCTGGGC 0.547 NaN 0 0 0 0.009096 0 3 20 UPF3B 65109 broad.mit.edu 37 X 118977197 118977197 + Missense_Mutation SNP C C G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:118977197C>G uc004erz.1 - 5 614 c.537G>C c.(535-537)GAG>GAC p.E179D UPF3B_uc004esa.1_Missense_Mutation_p.E179D NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 179 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 CTAGCAGTGTCTCTGGAGTAG 0.328 NaN 0 0 0 0.008291 0 7 154 CUL4B 8450 broad.mit.edu 37 X 119670883 119670883 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:119670883G>A uc004esw.2 - 17 2436 c.1999C>T c.(1999-2001)CAG>TAG p.Q667* CUL4B_uc010nqq.2_Nonsense_Mutation_p.Q368*|CUL4B_uc004esv.2_Nonsense_Mutation_p.Q649* NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 667 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 TTCTGATTCTGCATATACTAT 0.348 NaN 0 0 0 0.001855 0 11 105 DCAF12L2 340578 broad.mit.edu 37 X 125299261 125299261 + Missense_Mutation SNP G G T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:125299261G>T uc004euk.1 - 1 674 c.647C>A c.(646-648)ACC>AAC p.T216N NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 216 WD 2. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CAGAGCCACGGTGCCGTCGCG 0.637 NaN 1 0 7.07596e-05 0.006122 7.41786e-05 15 76 ATP2B3 492 broad.mit.edu 37 X 152821836 152821836 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:152821836G>A uc004fht.1 + 13 2412 c.2286G>A c.(2284-2286)CTG>CTA p.L762L ATP2B3_uc004fhs.1_Silent_p.L762L NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 762 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGAGGGTGCTGGCCCGGTCGT 0.652 NaN 0 0 0 0.004672 0 3 24 HCFC1 3054 broad.mit.edu 37 X 153224215 153224215 + Silent SNP C C A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:153224215C>A uc004fjp.2 - 10 2136 c.1608G>T c.(1606-1608)GTG>GTT p.V536V NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 536 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) TACTGCCAATCACCTGCAGCA 0.677 NaN 1 0 0.00909568 0.009096 0.00928169 3 23 FLNA 2316 broad.mit.edu 37 X 153596245 153596245 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:153596245C>T uc004fkk.2 - 3 836 c.587G>A c.(586-588)CGG>CAG p.R196Q FLNA_uc010nuu.1_Missense_Mutation_p.R196Q NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 196 CH 2.|Actin-binding. R -> W (in OPD1).|R -> G (in OPD2). actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCAGGGCCCGGCCGCTCTG 0.692 NaN 0 0 0 0.006214 0 7 54 ELF3 1999 broad.mit.edu 37 1 201980309 201980309 + Frame_Shift_Del DEL C C - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr1:201980309delC uc001gxg.3 + 1 3237 c.45delC c.(43-45)TTCfs p.F15fs ELF3_uc001gxi.3_Frame_Shift_Del_p.F15fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.F15fs NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 15 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 GCAACTACTTCAGTGCGATGT 0.577 NaN NaN NaN NaN NaN NaN 54 249 --- --- CCDC83 220047 broad.mit.edu 37 11 85627263 85627265 + In_Frame_Del DEL AGA AGA - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:85627263_85627265delAGA uc001pbh.1 + 10 1579_1581 c.1067_1069delAGA c.(1066-1071)GAGAAG>GAG p.K357del CCDC83_uc001pbg.1_In_Frame_Del_p.K388del|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_In_Frame_Del_p.K257del NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 357 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TATGAGGATGAGAAGGATTTCAA 0.335 NaN NaN NaN NaN NaN NaN 12 127 --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr11:89106662_89106663insA uc001pct.2 - 12 1314 c.1075_splice c.e12-1 p.C359_splice NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 NaN NaN NaN NaN NaN NaN 9 180 --- --- LINS1 55180 broad.mit.edu 37 15 101109865 101109866 + Frame_Shift_Del DEL AC AC - rs146405261 byFrequency TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr15:101109865_101109866delAC uc002bwe.2 - 8 2142_2143 c.1851_1852delGT c.(1849-1854)CTGTCTfs p.L617fs LINS1_uc002bwd.2_Frame_Shift_Del_p.L204fs|LINS1_uc002bwf.2_Frame_Shift_Del_p.L617fs|LINS1_uc002bwg.2_Frame_Shift_Del_p.L617fs|LINS1_uc002bwh.2_Frame_Shift_Del_p.L617fs NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 617_618 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) CGGGGGGAAGACAGACTAGAAG 0.53 NaN NaN NaN NaN NaN NaN 7 95 --- --- CCR7 1236 broad.mit.edu 37 17 38711926 38711927 + Frame_Shift_Del DEL AA AA - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:38711926_38711927delAA uc002huw.2 - 3 267_268 c.204_205delTT c.(202-207)ATTTGTfs p.I68fs NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 68_69 Helical; Name=1; (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) CCCACGAAACAAATGATGGAGT 0.495 NaN NaN NaN NaN NaN NaN 10 105 --- --- TOB1 10140 broad.mit.edu 37 17 48941203 48941206 + Frame_Shift_Del DEL TGTA TGTA - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr17:48941203_48941206delTGTA uc002isw.2 - 1 208_211 c.173_176delTACA c.(172-177)ATACACfs p.I58fs TOB1_uc010wmy.1_Frame_Shift_Del_p.I58fs|TOB1_uc010wmz.1_Frame_Shift_Del_p.I58fs|uc002isy.2_5'Flank NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 58_59 negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTCCCCTATGTGTATACATCTAAA 0.417 NaN NaN NaN NaN NaN NaN 24 322 --- --- SNRPB 6628 broad.mit.edu 37 20 2443773 2443773 + Frame_Shift_Del DEL C C - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr20:2443773delC uc002wfz.1 - 5 684 c.521delG c.(520-522)GGTfs p.G174fs SNRPB_uc002wga.1_Frame_Shift_Del_p.G174fs|SNRPB_uc010zpv.1_Frame_Shift_Del_p.G95fs|SNRPB_uc002wgb.2_Frame_Shift_Del_p.G174fs|SNORD119_uc010gam.1_5'Flank NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 174 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 TGGGGGAGGACCCCCACGGCC 0.592 NaN NaN NaN NaN NaN NaN 12 252 --- --- DGCR8 54487 broad.mit.edu 37 22 20082278 20082279 + Frame_Shift_Del DEL AG AG - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr22:20082278_20082279delAG uc002zri.2 + 9 2098_2099 c.1748_1749delAG c.(1747-1749)CAGfs p.Q583fs DGCR8_uc010grz.2_Frame_Shift_Del_p.Q550fs|DGCR8_uc002zrj.2_Frame_Shift_Del_p.Q226fs NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 583 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) TTTGTTAAACAGACCTCTGAAG 0.55 NaN NaN NaN NaN NaN NaN 13 184 --- --- ALAS1 211 broad.mit.edu 37 3 52237973 52237978 + In_Frame_Del DEL GCAAAA GCAAAA - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr3:52237973_52237978delGCAAAA uc003dcy.1 + 5 859_864 c.522_527delGCAAAA c.(520-528)ATGCAAAAG>ATG p.QK175del ALAS1_uc003dcz.1_In_Frame_Del_p.QK175del|ALAS1_uc011bec.1_In_Frame_Del_p.QK192del NM_000688 NP_000679 P13196 HEM1_HUMAN 5-aminolevulinate synthase 1 precursor 175_176 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(2)|upper_aerodigestive_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGGACATCATGCAAAAGCAAAGACCA 0.422 NaN NaN NaN NaN NaN NaN 15 133 --- --- SUN1 23353 broad.mit.edu 37 7 896032 896032 + Frame_Shift_Del DEL C C - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr7:896032delC uc011jvp.1 + 13 1467 c.1388delC c.(1387-1389)ACAfs p.T463fs GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Frame_Shift_Del_p.T380fs|SUN1_uc011jvq.1_Frame_Shift_Del_p.T360fs|SUN1_uc003sjg.2_Frame_Shift_Del_p.T368fs|SUN1_uc011jvr.1_Frame_Shift_Del_p.T261fs|SUN1_uc003sji.2_Frame_Shift_Del_p.T301fs|SUN1_uc003sjk.2_Frame_Shift_Del_p.T102fs NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 490 Perinuclear space.|Potential. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 AAGCAAAAAACAATCAGGTAG 0.418 NaN NaN NaN NaN NaN NaN 11 121 --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr8:41166638_41166640delGCT uc003xnt.2 - 1 341_343 c.39_41delAGC c.(37-42)GCAGCC>GCC p.13_14AA>A NM_003012 NP_003003 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 precursor 13_14 Missing (in Ref. 1 and 3). brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 NaN NaN NaN NaN NaN NaN 7 3 --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chr9:94486026_94486028delTCC uc004arj.1 - 9 2947_2949 c.2748_2750delGGA c.(2746-2751)GAGGAA>GAA p.916_917EE>E ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916_917 Cytoplasmic (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GACAGAGCCTTCCTCCTCCTCCT 0.645 NaN NaN NaN NaN NaN NaN 8 145 --- --- POLA1 5422 broad.mit.edu 37 X 24755805 24755805 + Frame_Shift_Del DEL C C - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e02d723-691a-448c-85e2-4e39a3696ba5 1da60c80-b916-476e-b5f6-ed860171f568 g.chrX:24755805delC uc004dbl.2 + 19 1992 c.1969delC c.(1969-1971)CCTfs p.P657fs NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 657 Potential. cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) GTGCAAAGCTCCTCACTGGTC 0.338 NaN NaN NaN NaN NaN NaN 11 202 --- ---