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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter GABRD 2563 broad.mit.edu 37 1 1961080 1961080 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:1961080A>T uc001aip.2 + 8 1033 c.938A>T c.(937-939)TAC>TTC p.Y313F NM_000815 NP_000806 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 313 Helical; (Probable). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CTGGACGTCTACTTCTGGATC 0.587 6 39 --- --- --- --- PASS MMEL1 79258 broad.mit.edu 37 1 2529710 2529710 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:2529710A>T uc001ajy.2 - 13 1422 c.1208T>A c.(1207-1209)CTG>CAG p.L403Q MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 403 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GTCCAGCACCAGGCGCCAGAC 0.592 7 65 --- --- --- --- PASS ACTRT2 140625 broad.mit.edu 37 1 2938634 2938634 + Missense_Mutation SNP C G G rs137995220 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:2938634C>G uc001ajz.2 + 1 589 c.384C>G c.(382-384)TTC>TTG p.F128L NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 128 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) AAGTCATGTTCGAGAACTTCG 0.632 18 31 --- --- --- --- PASS CHD5 26038 broad.mit.edu 37 1 6170001 6170001 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:6170001T>C uc001amb.1 - 38 5532 c.5432A>G c.(5431-5433)TAC>TGC p.Y1811C CHD5_uc001alz.1_Missense_Mutation_p.Y668C|CHD5_uc001ama.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1811 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CATGTTCAGGTACGCGGCCCT 0.701 5 28 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10328302 10328302 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:10328302C>A uc001aqx.3 + 7 903 c.701C>A c.(700-702)ACC>AAC p.T234N KIF1B_uc001aqv.3_Missense_Mutation_p.T234N|KIF1B_uc001aqw.3_Missense_Mutation_p.T234N|KIF1B_uc001aqy.2_Missense_Mutation_p.T234N|KIF1B_uc001aqz.2_Missense_Mutation_p.T234N|KIF1B_uc001ara.2_Missense_Mutation_p.T234N|KIF1B_uc001arb.2_Missense_Mutation_p.T234N|KIF1B_uc009vmt.2_RNA NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 234 Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GATAATGAGACCAACCTTTCC 0.433 13 10 --- --- --- --- PASS KIAA2013 90231 broad.mit.edu 37 1 11983449 11983449 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:11983449C>T uc001atk.2 - 2 1325 c.1131G>A c.(1129-1131)CTG>CTA p.L377L KIAA2013_uc001atl.1_Silent_p.L377L NM_138346 NP_612355 Q8IYS2 K2013_HUMAN hypothetical protein LOC90231 precursor 377 Extracellular (Potential). integral to membrane ovary(1) 1 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGGGGCTGAGCAGTGGGGCTG 0.597 5 58 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12567003 12567003 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:12567003C>T uc001atv.2 + 69 13032 c.12891C>T c.(12889-12891)GCC>GCT p.A4297A VPS13D_uc001atw.2_Silent_p.A4272A|VPS13D_uc001atx.2_Silent_p.A3484A|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Silent_p.A295A|SNORA59B_uc001atz.1_5'Flank NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 4296 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATCGAGAAGCCATTTTCCTAG 0.493 15 82 --- --- --- --- PASS PRAMEF8 391002 broad.mit.edu 37 1 12979852 12979852 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:12979852C>A uc001aup.2 + 4 1127 c.1044C>A c.(1042-1044)GCC>GCA p.A348A NM_001012276 NP_001012276 Q5VWM4 PRAM8_HUMAN PRAME family member 8 348 LRR 2. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAGTTGTGGCCACCCTGCAGA 0.602 22 56 --- --- --- --- PASS SPATA21 374955 broad.mit.edu 37 1 16727236 16727236 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:16727236G>T uc001ayn.2 - 11 1636 c.1153C>A c.(1153-1155)CGG>AGG p.R385R SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Silent_p.R362R NM_198546 NP_940948 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 385 calcium ion binding ovary(2)|breast(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TGCTTCAGCCGGCTCAGGATA 0.597 82 59 --- --- --- --- PASS PADI1 29943 broad.mit.edu 37 1 17552641 17552641 + Missense_Mutation SNP T G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:17552641T>G uc001bah.1 + 6 732 c.640T>G c.(640-642)TTC>GTC p.F214V NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 214 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) AGTGAGGGTCTTCTGTGCCAG 0.512 16 35 --- --- --- --- PASS PADI1 29943 broad.mit.edu 37 1 17555289 17555289 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:17555289G>T uc001bah.1 + 7 914 c.822G>T c.(820-822)CCG>CCT p.P274P NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 274 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGGTGGACCCGGGGGTGTGTA 0.657 54 31 --- --- --- --- PASS TCEB3 6924 broad.mit.edu 37 1 24078941 24078941 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:24078941G>A uc001bho.2 + 5 1608 c.1548G>A c.(1546-1548)GCG>GCA p.A516A NM_003198 NP_003189 Q14241 ELOA1_HUMAN elongin A 516 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CGTTACCCGCGATACAGGCCA 0.507 10 8 --- --- --- --- PASS C1orf201 90529 broad.mit.edu 37 1 24706237 24706237 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:24706237T>C uc001bjc.2 - 5 503 c.368A>G c.(367-369)AAG>AGG p.K123R C1orf201_uc001bja.2_Missense_Mutation_p.K76R|C1orf201_uc001bjb.2_Missense_Mutation_p.K31R|C1orf201_uc001bjd.2_Missense_Mutation_p.K123R|C1orf201_uc001bje.1_Missense_Mutation_p.K76R|C1orf201_uc001bjf.2_5'UTR Q5TH74 CA201_HUMAN RecName: Full=UPF0490 protein C1orf201; 123 ovary(1)|breast(1) 2 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) AAAGTCTCTCTTGGAAATAAA 0.413 33 37 --- --- --- --- PASS PTAFR 5724 broad.mit.edu 37 1 28477001 28477001 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:28477001C>T uc001bpl.2 - 2 659 c.532G>A c.(532-534)GAG>AAG p.E178K PTAFR_uc001bpm.3_Missense_Mutation_p.E178K|PTAFR_uc009vte.2_Missense_Mutation_p.E178K NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 178 Extracellular (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CTGCCCTTCTCGTAATGCTCA 0.542 12 26 --- --- --- --- PASS YTHDF2 51441 broad.mit.edu 37 1 29070237 29070237 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:29070237G>T uc001brc.2 + 4 1952 c.1455G>T c.(1453-1455)GTG>GTT p.V485V YTHDF2_uc001brd.2_Silent_p.V482V|YTHDF2_uc010ofx.1_Silent_p.V435V|YTHDF2_uc001bre.2_Silent_p.V435V NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 485 YTH. humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GTGCAGGTGTGTGGTCCCAGG 0.493 23 39 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34102088 34102088 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:34102088A>T uc001bxn.1 - 30 4750 c.4721T>A c.(4720-4722)CTG>CAG p.L1574Q CSMD2_uc001bxm.1_Missense_Mutation_p.L1614Q|CSMD2_uc001bxo.1_Missense_Mutation_p.L487Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1574 Extracellular (Potential).|Sushi 9. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCCCAGCTTCAGGTCGGACCC 0.582 15 9 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34191097 34191097 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:34191097C>A uc001bxn.1 - 17 2457 c.2428G>T c.(2428-2430)GAT>TAT p.D810Y CSMD2_uc001bxm.1_Missense_Mutation_p.D850Y NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 810 CUB 5.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCCGCCCATCGCGTACTTCC 0.493 19 33 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35365738 35365738 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:35365738G>C uc001byc.2 - 2 1244 c.1244C>G c.(1243-1245)ACA>AGA p.T415R NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 415 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) TTTGGGAGATGTCTTGGGGCT 0.662 10 48 --- --- --- --- PASS KIAA0319L 79932 broad.mit.edu 37 1 35921739 35921739 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:35921739G>A uc001byx.2 - 10 1789 c.1531C>T c.(1531-1533)CAA>TAA p.Q511* KIAA0319L_uc001byw.2_5'Flank|KIAA0319L_uc010ohv.1_Nonsense_Mutation_p.Q153* NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 511 PKD 3.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTGATCACTTGGTTGGGGCCT 0.532 69 46 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37325587 37325587 + Missense_Mutation SNP C A A rs114188187 by1000genomes TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:37325587C>A uc001caz.2 - 6 953 c.818G>T c.(817-819)CGC>CTC p.R273L GRIK3_uc001cba.1_Missense_Mutation_p.R273L NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 273 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GCCTGAGTAGCGGTAGGGCTC 0.567 35 34 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39715746 39715746 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:39715746C>G uc010ois.1 + 5 548 c.343C>G c.(343-345)CTG>GTG p.L115V MACF1_uc001cda.1_Missense_Mutation_p.L23V|MACF1_uc010oit.1_Missense_Mutation_p.L78V NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 115 Actin-binding.|CH 1. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCTGATCTCTCTGTTGGAGGT 0.433 69 41 --- --- --- --- PASS KIAA0754 643314 broad.mit.edu 37 1 39876940 39876940 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:39876940G>C uc009vvt.1 + 1 1765 c.1003G>C c.(1003-1005)GAG>CAG p.E335Q MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 199 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCTGAGGGAGAGTGGGAGGA 0.448 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 53 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39945559 39945559 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:39945559C>T uc010oiu.1 + 62 17439 c.17308C>T c.(17308-17310)CGA>TGA p.R5770* MACF1_uc010ois.1_Nonsense_Mutation_p.R5262*|MACF1_uc001cde.1_Nonsense_Mutation_p.R139*|MACF1_uc001cdf.1_Nonsense_Mutation_p.R145*|MACF1_uc001cdg.2_Nonsense_Mutation_p.R53*|MACF1_uc001cdh.2_Nonsense_Mutation_p.R53* NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 7220 C-terminal tail (By similarity). cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTCACGGGGTCGAAGGTCCAA 0.522 11 37 --- --- --- --- PASS CTPS 1503 broad.mit.edu 37 1 41474386 41474386 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:41474386G>T uc001cgk.3 + 15 1957 c.1449G>T c.(1447-1449)GAG>GAT p.E483D CTPS_uc010ojo.1_Missense_Mutation_p.E252D|CTPS_uc001cgl.3_Missense_Mutation_p.E483D|CTPS_uc010ojq.1_Missense_Mutation_p.E327D|CTPS_uc009vwe.2_Intron NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 483 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) ACCGATTTGAGGTGAGGATTC 0.468 25 40 --- --- --- --- PASS CLDN19 149461 broad.mit.edu 37 1 43204186 43204186 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:43204186G>C uc001cht.1 - 2 485 c.294C>G c.(292-294)AGC>AGG p.S98R CLDN19_uc001chu.2_Missense_Mutation_p.S98R|CLDN19_uc010ojv.1_Missense_Mutation_p.S98R NM_148960 NP_683763 Q8N6F1 CLD19_HUMAN claudin 19 isoform a 98 Helical; (Potential). calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCCAACTACGCTGAGGACCA 0.642 4 27 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43777783 43777783 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:43777783C>T uc001ciu.2 + 11 1690 c.1611C>T c.(1609-1611)CTC>CTT p.L537L TIE1_uc010okd.1_Silent_p.L537L|TIE1_uc010oke.1_Silent_p.L492L|TIE1_uc009vwq.2_Silent_p.L493L|TIE1_uc010okf.1_Silent_p.L182L|TIE1_uc010okg.1_Silent_p.L182L NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 537 Extracellular (Potential).|Fibronectin type-III 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCCCACCCTCATGACCACAG 0.612 17 9 --- --- --- --- PASS KIF2C 11004 broad.mit.edu 37 1 45223802 45223802 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:45223802A>G uc001cmg.3 + 13 1329 c.1214A>G c.(1213-1215)TAC>TGC p.Y405C KIF2C_uc010olb.1_Missense_Mutation_p.Y364C|KIF2C_uc010olc.1_Missense_Mutation_p.Y292C|KIF2C_uc001cmh.3_Missense_Mutation_p.Y351C NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 405 Kinesin-motor. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TTCGAGATCTACAATGGGAAG 0.507 20 62 --- --- --- --- PASS HECTD3 79654 broad.mit.edu 37 1 45469374 45469374 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:45469374C>T uc009vxk.2 - 20 2566 c.2468G>A c.(2467-2469)TGC>TAC p.C823Y HECTD3_uc001cmx.3_Missense_Mutation_p.C172Y|HECTD3_uc001cmy.3_Missense_Mutation_p.C433Y|HECTD3_uc010olh.1_Missense_Mutation_p.C539Y NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 823 HECT. Glycyl thioester intermediate. C->A: Loss of ubiquitin-ligase activity. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) GGTGCTGGAGCAAGTGGAAGA 0.597 20 19 --- --- --- --- PASS CYP4B1 1580 broad.mit.edu 37 1 47283849 47283849 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:47283849A>G uc001cqm.3 + 11 1400 c.1316A>G c.(1315-1317)CAT>CGT p.H439R CYP4B1_uc001cqn.3_Missense_Mutation_p.H440R|CYP4B1_uc009vym.2_Missense_Mutation_p.H425R|CYP4B1_uc010omk.1_Missense_Mutation_p.H276R NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 439 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) TCCAAACGCCATCCCTTTGCC 0.562 43 26 --- --- --- --- PASS ELAVL4 1996 broad.mit.edu 37 1 50642799 50642799 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:50642799C>G uc001csb.2 + 3 557 c.289C>G c.(289-291)CCA>GCA p.P97A ELAVL4_uc001cry.3_Missense_Mutation_p.P100A|ELAVL4_uc001crz.3_Missense_Mutation_p.P97A|ELAVL4_uc001csa.3_Missense_Mutation_p.P114A|ELAVL4_uc001csc.3_Missense_Mutation_p.P97A|ELAVL4_uc009vyu.2_Missense_Mutation_p.P102A|ELAVL4_uc010omz.1_Missense_Mutation_p.P102A NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 97 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 CTATATTGATCCAAAGGATGC 0.313 10 49 --- --- --- --- PASS C1orf168 199920 broad.mit.edu 37 1 57216842 57216842 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:57216842T>A uc001cym.3 - 9 1668 c.1262A>T c.(1261-1263)CAG>CTG p.Q421L C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 421 ovary(3)|skin(2) 5 GTTGGTCATCTGAATTTTTTC 0.458 6 33 --- --- --- --- PASS EFCAB7 84455 broad.mit.edu 37 1 64034182 64034182 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:64034182G>A uc001dbf.2 + 12 1993 c.1699G>A c.(1699-1701)GAA>AAA p.E567K NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 567 calcium ion binding 0 GTCAGTTATTGAAAACAAGGT 0.333 10 17 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67205146 67205146 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:67205146C>A uc001dcr.2 + 22 2377 c.2160C>A c.(2158-2160)CTC>CTA p.L720L SGIP1_uc010opd.1_Silent_p.L320L|SGIP1_uc001dcs.2_Silent_p.L320L|SGIP1_uc001dct.2_Silent_p.L322L|SGIP1_uc009wat.2_Silent_p.L514L|SGIP1_uc001dcu.2_Silent_p.L225L NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 720 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 CTGTGGCCCTCAACAATGTGC 0.527 23 34 --- --- --- --- PASS WDR78 79819 broad.mit.edu 37 1 67390477 67390477 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:67390477G>C uc001dcx.2 - 1 94 c.38C>G c.(37-39)GCC>GGC p.A13G WDR78_uc001dcy.2_Missense_Mutation_p.A13G|WDR78_uc001dcz.2_Missense_Mutation_p.A13G|MIER1_uc001dda.3_5'Flank|MIER1_uc010opf.1_5'Flank|MIER1_uc009way.2_5'Flank|MIER1_uc001ddc.2_5'Flank|MIER1_uc001ddh.2_5'Flank|MIER1_uc001ddf.2_5'Flank|MIER1_uc001ddg.2_5'Flank|MIER1_uc010opg.1_5'Flank|MIER1_uc001dde.2_5'Flank NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 13 ovary(2) 2 TCCGTTAGCGGCTCGGGCCGA 0.682 38 39 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70477575 70477575 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:70477575T>C uc001dep.2 + 10 1016 c.986T>C c.(985-987)GTT>GCT p.V329A LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 329 LRR 14. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ACATTAGCAGTTGATGAGAAT 0.318 16 15 --- --- --- --- PASS NEGR1 257194 broad.mit.edu 37 1 72241934 72241934 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:72241934T>A uc001dfw.2 - 3 556 c.456A>T c.(454-456)GAA>GAT p.E152D NEGR1_uc001dfv.2_Missense_Mutation_p.E24D|NEGR1_uc010oqs.1_Missense_Mutation_p.E152D NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 152 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CGTTGGTTCCTTCATTGACGG 0.383 17 20 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74507259 74507259 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:74507259T>C uc001dfy.3 - 7 1548 c.1356A>G c.(1354-1356)AGA>AGG p.R452R LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 452 ovary(2) 2 CTACTCTAACTCTTTCTCGAG 0.318 19 81 --- --- --- --- PASS FPGT 8790 broad.mit.edu 37 1 74671168 74671168 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:74671168G>C uc001dgb.1 + 4 1474 c.1437G>C c.(1435-1437)AAG>AAC p.K479N TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.K104N|FPGT_uc010oqu.1_Missense_Mutation_p.K225N|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 479 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 ACTTGAAAAAGAGTGTGAAAA 0.363 4 46 --- --- --- --- PASS MCOLN3 55283 broad.mit.edu 37 1 85486931 85486931 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:85486931C>A uc001dkp.2 - 12 1442 c.1349G>T c.(1348-1350)TGC>TTC p.C450F MCOLN3_uc001dko.2_Missense_Mutation_p.C69F|MCOLN3_uc001dkq.2_Missense_Mutation_p.C394F NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 450 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) AGAGAAAAGGCACTCAGAGAC 0.373 30 43 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86590593 86590593 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:86590593C>T uc001dlj.2 - 3 1468 c.1426G>A c.(1426-1428)GAG>AAG p.E476K COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.E476K NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 476 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TTTAGATCCTCATAATAATAA 0.338 23 19 --- --- --- --- PASS GBP4 115361 broad.mit.edu 37 1 89654377 89654377 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:89654377G>A uc001dnb.2 - 8 1414 c.1298C>T c.(1297-1299)ACA>ATA p.T433I NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 433 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) AATGCTTTCTGTCAGGTGCTC 0.448 88 191 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94502704 94502704 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:94502704T>A uc001dqh.2 - 25 3914 c.3810A>T c.(3808-3810)GAA>GAT p.E1270D NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1270 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ACTTTACCTCTTCCAGGGGAG 0.453 72 81 --- --- --- --- PASS LPPR4 9890 broad.mit.edu 37 1 99771402 99771402 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:99771402C>T uc001dse.2 + 7 1234 c.1128C>T c.(1126-1128)CTC>CTT p.L376L LPPR4_uc010oue.1_Silent_p.L318L NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 376 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AAGGCATCCTCAACCGAAACC 0.468 8 103 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102270177 102270177 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:102270177C>T uc001duf.2 - 6 1125 c.1054G>A c.(1054-1056)GAT>AAT p.D352N OLFM3_uc001dug.2_Missense_Mutation_p.D332N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.D257N|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 352 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CCGATTTCATCAGCCATTAGG 0.478 24 29 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102302551 102302551 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:102302551C>A uc001duf.2 - 2 231 c.160G>T c.(160-162)GTG>TTG p.V54L OLFM3_uc001dug.2_Missense_Mutation_p.V34L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 54 extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GAGCTGTACACCTGCCACCCT 0.473 4 46 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103352543 103352543 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:103352543C>A uc001dul.2 - 63 4996 c.4678G>T c.(4678-4680)GGC>TGC p.G1560C COL11A1_uc001duk.2_Missense_Mutation_p.G756C|COL11A1_uc001dum.2_Missense_Mutation_p.G1572C|COL11A1_uc001dun.2_Missense_Mutation_p.G1521C|COL11A1_uc009weh.2_Missense_Mutation_p.G1444C NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1560 Nonhelical region (C-terminal). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTTGCATGCCTTCAGTATGT 0.393 15 86 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103428220 103428220 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:103428220C>T uc001dul.2 - 39 3331 c.3013G>A c.(3013-3015)GAA>AAA p.E1005K COL11A1_uc001duk.2_Missense_Mutation_p.E201K|COL11A1_uc001dum.2_Missense_Mutation_p.E1017K|COL11A1_uc001dun.2_Missense_Mutation_p.E966K|COL11A1_uc009weh.2_Missense_Mutation_p.E889K NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1005 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTGCACCTTCTTTTCCTGCA 0.468 7 29 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103453221 103453221 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:103453221C>A uc001dul.2 - 30 2788 c.2470G>T c.(2470-2472)GAC>TAC p.D824Y COL11A1_uc001duk.2_Missense_Mutation_p.E14D|COL11A1_uc001dum.2_Missense_Mutation_p.D836Y|COL11A1_uc001dun.2_Missense_Mutation_p.D785Y|COL11A1_uc009weh.2_Missense_Mutation_p.D708Y NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 824 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGACCTGGGTCTCCAGTTGGG 0.453 14 52 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109803812 109803812 + Silent SNP G T T rs148583272 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:109803812G>T uc001dxa.3 + 3 4168 c.4107G>T c.(4105-4107)ACG>ACT p.T1369T NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1369 Extracellular (Potential).|Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) AGGTGACCACGCGCAGCTTCC 0.632 13 52 --- --- --- --- PASS KCNA3 3738 broad.mit.edu 37 1 111216168 111216168 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:111216168C>T uc001dzv.1 - 1 1488 c.1264G>A c.(1264-1266)GAC>AAC p.D422N NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 422 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGGGTCGTCTGCCTCGGCA 0.557 24 39 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114308797 114308797 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:114308797C>A uc001edq.2 - 7 2250 c.2214G>T c.(2212-2214)AGG>AGT p.R738S RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 738 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGTTTTTATCCTCACACATT 0.413 26 57 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114310948 114310948 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:114310948G>C uc001edq.2 - 5 1758 c.1722C>G c.(1720-1722)CTC>CTG p.L574L RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 574 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TATCTTCAAAGAGAACTTCGC 0.438 13 76 --- --- --- --- PASS TRIM33 51592 broad.mit.edu 37 1 114970445 114970445 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:114970445C>T uc001eew.2 - 7 1311 c.1227G>A c.(1225-1227)GTG>GTA p.V409V TRIM33_uc010owr.1_Silent_p.V17V|TRIM33_uc010ows.1_Silent_p.V17V|TRIM33_uc001eex.2_Silent_p.V409V NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 409 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TAACATGCTTCACCTGCCGGG 0.433 T RET papillary thyroid 19 23 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120509091 120509091 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:120509091T>C uc001eik.2 - 9 1731 c.1475A>G c.(1474-1476)GAA>GGA p.E492G NOTCH2_uc001eil.2_Missense_Mutation_p.E492G|NOTCH2_uc001eim.3_Missense_Mutation_p.E409G NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 492 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TATTTCTAATTCACAATGCAC 0.418 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 28 59 --- --- --- --- PASS HFE2 148738 broad.mit.edu 37 1 145415320 145415320 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:145415320G>C uc001eni.2 + 3 464 c.139G>C c.(139-141)GTA>CTA p.V47L NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron NM_213653 NP_998818 Q6ZVN8 RGMC_HUMAN hemojuvelin isoform a precursor 47 axon guidance anchored to membrane ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGCTGAGTACGTATCGTCCAC 0.582 7 69 --- --- --- --- PASS BCL9 607 broad.mit.edu 37 1 147084987 147084987 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:147084987C>G uc001epq.2 + 5 1099 c.359C>G c.(358-360)TCT>TGT p.S120C BCL9_uc010ozr.1_Intron NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 120 Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) AACGATGACTCTGACATTAAA 0.498 T IGH@|IGL@ B-ALL 10 35 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152058373 152058373 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:152058373C>T uc001ezo.1 - 3 1850 c.1785G>A c.(1783-1785)CAG>CAA p.Q595Q NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 595 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTCCCTGCCTCTGGGTATCTG 0.547 30 75 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152129161 152129161 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:152129161C>T uc001ezs.1 - 3 479 c.414G>A c.(412-414)GAG>GAA p.E138E NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 138 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 CGTCTTGTCTCTCAGGCTGAC 0.522 64 170 --- --- --- --- PASS SYT11 23208 broad.mit.edu 37 1 155838213 155838213 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:155838213A>G uc001fmg.2 + 2 755 c.492A>G c.(490-492)TCA>TCG p.S164S SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 164 Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TCACCTTCTCAGTGGACTATA 0.542 14 79 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157665335 157665335 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:157665335G>A uc001frb.2 - 8 1487 c.1195C>T c.(1195-1197)CTG>TTG p.L399L FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L399L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.L125L|FCRL3_uc001frc.1_Silent_p.L399L NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 399 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) AGCTCCAGCAGGTCCCCCACC 0.587 20 47 --- --- --- --- PASS OR10Z1 128368 broad.mit.edu 37 1 158576522 158576522 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:158576522T>C uc010pio.1 + 1 294 c.294T>C c.(292-294)GCT>GCC p.A98A NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TGGGCTGTGCTGCCCAGATGT 0.547 27 87 --- --- --- --- PASS OR10Z1 128368 broad.mit.edu 37 1 158576523 158576523 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:158576523G>T uc010pio.1 + 1 295 c.295G>T c.(295-297)GCC>TCC p.A99S NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) GGGCTGTGCTGCCCAGATGTT 0.547 27 85 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158592826 158592826 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:158592826C>G uc001fst.1 - 43 6266 c.6067G>C c.(6067-6069)GCC>CCC p.A2023P NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2023 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACTGCCGAGGCTTCCAGCAAC 0.458 42 155 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158615329 158615329 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:158615329C>A uc001fst.1 - 28 4151 c.3952G>T c.(3952-3954)GCC>TCC p.A1318S NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1318 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AAGTCTTCGGCCAGCTCCTGT 0.433 16 109 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158624460 158624460 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:158624460G>T uc001fst.1 - 21 3176 c.2977C>A c.(2977-2979)CCC>ACC p.P993T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 993 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACTTCTCGGGGGCTGCGGGCC 0.473 9 31 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158648259 158648259 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:158648259G>T uc001fst.1 - 6 943 c.744C>A c.(742-744)CGC>CGA p.R248R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 248 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AACCACGAAGGCGCTCCCAGG 0.448 23 51 --- --- --- --- PASS OR6N2 81442 broad.mit.edu 37 1 158747070 158747070 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:158747070G>T uc010pir.1 - 1 356 c.356C>A c.(355-357)GCC>GAC p.A119D NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TCTATCATAGGCCATGGCTGT 0.498 17 84 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158813875 158813875 + Missense_Mutation SNP C A A rs148142374 byFrequency TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:158813875C>A uc001fsz.1 + 4 733 c.533C>A c.(532-534)ACC>AAC p.T178N NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 178 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) CTACCCCAGACCTCATCATCA 0.507 24 159 --- --- --- --- PASS ITLN2 142683 broad.mit.edu 37 1 160920953 160920953 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:160920953C>A uc001fxd.2 - 4 379 c.321G>T c.(319-321)ACG>ACT p.T107T ITLN2_uc009wts.2_Silent_p.T106T|ITLN2_uc010pju.1_Silent_p.T24T NM_080878 NP_543154 Q8WWU7 ITLN2_HUMAN intelectin 2 precursor 107 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding ovary(1) 1 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GATCACCCACCGTGCACTTCC 0.592 36 52 --- --- --- --- PASS OLFML2B 25903 broad.mit.edu 37 1 161967803 161967803 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:161967803G>A uc001gbu.2 - 6 1710 c.1286C>T c.(1285-1287)CCA>CTA p.P429L OLFML2B_uc010pkq.1_Missense_Mutation_p.P430L NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 429 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TGGGGCTGCTGGTTGCTGGGT 0.607 14 30 --- --- --- --- PASS PBX1 5087 broad.mit.edu 37 1 164776878 164776878 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:164776878G>T uc001gct.2 + 5 1059 c.801G>T c.(799-801)GAG>GAT p.E267D PBX1_uc010pku.1_Missense_Mutation_p.E267D|PBX1_uc010pkv.1_Missense_Mutation_p.E184D|PBX1_uc001gcs.2_Missense_Mutation_p.E267D|PBX1_uc010pkw.1_Missense_Mutation_p.E157D NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 267 Homeobox; TALE-type. negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 AAGCCAAAGAGGAGTTAGCCA 0.542 T TCF3|EWSR1 pre B-ALL|myoepithelioma 24 146 --- --- --- --- PASS ILDR2 387597 broad.mit.edu 37 1 166891994 166891994 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:166891994G>A uc001gdx.1 - 8 1103 c.1047C>T c.(1045-1047)TTC>TTT p.F349F NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 349 Cytoplasmic (Potential). integral to membrane ovary(1) 1 AAGACTGGCGGAAATTGCTGT 0.488 32 99 --- --- --- --- PASS C1orf9 51430 broad.mit.edu 37 1 172520690 172520690 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:172520690C>T uc001giq.3 + 2 417 c.101C>T c.(100-102)TCA>TTA p.S34L C1orf9_uc010pmm.1_Missense_Mutation_p.S34L|C1orf9_uc009wwd.2_Missense_Mutation_p.S34L|C1orf9_uc010pmn.1_Missense_Mutation_p.S34L|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 34 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) GAGAGTTCTTCAGCTTCAGCG 0.383 10 30 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173503744 173503744 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:173503744A>C uc001giz.2 - 16 2276 c.1853T>G c.(1852-1854)TTG>TGG p.L618W SLC9A11_uc009wwe.2_Missense_Mutation_p.L176W|SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 618 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 AATATATATCAAATTTATAAT 0.254 6 11 --- --- --- --- PASS SERPINC1 462 broad.mit.edu 37 1 173881102 173881102 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:173881102G>C uc001gjt.2 - 3 578 c.459C>G c.(457-459)TTC>TTG p.F153L NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 153 Missing (in AT3D; type-I).|Missing (in AT3D; type-I). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) TGGCAAAGAAGAAGTGGATCT 0.408 26 56 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175372675 175372675 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:175372675C>A uc001gkp.1 - 2 658 c.577G>T c.(577-579)GGC>TGC p.G193C TNR_uc009wwu.1_Missense_Mutation_p.G193C|TNR_uc010pmz.1_Missense_Mutation_p.G193C NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 193 EGF-like 1.|Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCAAACCAGCCTTCGTTGCAG 0.572 13 92 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175375662 175375662 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:175375662C>A uc001gkp.1 - 1 270 c.189G>T c.(187-189)GTG>GTT p.V63V TNR_uc009wwu.1_Silent_p.V63V|TNR_uc010pmz.1_Silent_p.V63V NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 63 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GGTTGAAGACCACAGGCTGCT 0.552 17 71 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176760590 176760590 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:176760590G>T uc001gkz.2 + 19 6156 c.4992G>T c.(4990-4992)GAG>GAT p.E1664D PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1664 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ATTCTGTGGAGTACAAATGTG 0.418 19 49 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180062650 180062650 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:180062650C>T uc001gnt.2 + 34 7793 c.7410C>T c.(7408-7410)CGC>CGT p.R2470R CEP350_uc009wxl.2_Silent_p.R2469R|CEP350_uc001gnv.2_Silent_p.R605R|CEP350_uc001gnw.1_Silent_p.R227R|CEP350_uc001gnx.1_Silent_p.R227R NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2470 centrosome|nucleus|spindle ovary(4) 4 GTAAGGAGCGCAGTGATGTGG 0.453 9 24 --- --- --- --- PASS QSOX1 5768 broad.mit.edu 37 1 180163490 180163490 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:180163490C>T uc001gnz.2 + 11 1506 c.1431C>T c.(1429-1431)CTC>CTT p.L477L QSOX1_uc001gny.2_Silent_p.L477L|QSOX1_uc001goa.2_Silent_p.L477L|QSOX1_uc001goc.2_Silent_p.L19L NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 477 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 TCCTCTGGCTCTGGTCTAGCC 0.612 7 20 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181549846 181549846 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:181549846C>A uc001gow.2 + 6 1050 c.885C>A c.(883-885)ATC>ATA p.I295I CACNA1E_uc009wxr.2_Silent_p.I202I|CACNA1E_uc009wxs.2_Silent_p.I202I NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 295 I.|Extracellular (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TTGATAACATCCTTTTTGCTG 0.547 12 62 --- --- --- --- PASS GLT25D2 23127 broad.mit.edu 37 1 183907946 183907946 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:183907946G>A uc001gqr.2 - 12 2202 c.1830C>T c.(1828-1830)GCC>GCT p.A610A GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Silent_p.A218A|GLT25D2_uc001gqq.2_Silent_p.A347A|GLT25D2_uc001gqs.2_Silent_p.A490A NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 610 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 GCGGTGGCAGGGCCTCTGTGT 0.562 17 38 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186010270 186010270 + Splice_Site SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:186010270T>C uc001grq.1 + 40 6533 c.6304_splice c.e40+2 p.V2102_splice NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAGTATATGGTGAGACATTTT 0.408 13 58 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186099657 186099657 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:186099657G>T uc001grq.1 + 85 13287 c.13058G>T c.(13057-13059)GGT>GTT p.G4353V HMCN1_uc001grs.1_5'UTR NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4353 Ig-like C2-type 43. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTCTTCAAAGGTGATTATCCT 0.403 28 58 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186326588 186326588 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:186326588C>A uc001grv.2 - 14 1962 c.1665G>T c.(1663-1665)GTG>GTT p.V555V TPR_uc010pop.1_Silent_p.V631V NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 555 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTCTAAGGGCCACTAAGAGAC 0.383 T NTRK1 papillary thyroid 14 30 --- --- --- --- PASS PLA2G4A 5321 broad.mit.edu 37 1 186925289 186925289 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:186925289G>T uc001gsc.2 + 14 1597 c.1392G>T c.(1390-1392)TGG>TGT p.W464C PLA2G4A_uc010pos.1_Missense_Mutation_p.W404C NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 464 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) AAGCAAGTTGGATTCATCGTA 0.408 5 34 --- --- --- --- PASS TROVE2 6738 broad.mit.edu 37 1 193038214 193038214 + Silent SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:193038214A>T uc001gss.2 + 2 205 c.30A>T c.(28-30)CCA>CCT p.P10P TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Silent_p.P10P|TROVE2_uc001gsw.2_Silent_p.P10P|TROVE2_uc009wyp.2_Silent_p.P10P|TROVE2_uc009wyq.2_Silent_p.P10P|TROVE2_uc001gsx.1_Silent_p.P10P NM_004600 NP_004591 P10155 RO60_HUMAN TROVE domain family, member 2 isoform 2 10 transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 AAATGCAGCCACTGAATGAGA 0.378 7 31 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197112698 197112698 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:197112698G>A uc001gtu.2 - 3 941 c.684C>T c.(682-684)TTC>TTT p.F228F ASPM_uc001gtv.2_Silent_p.F228F|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 228 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GGCATTCATTGAAAGCAGGGC 0.393 19 53 --- --- --- --- PASS ZC3H11A 9877 broad.mit.edu 37 1 203798581 203798581 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:203798581G>T uc001hac.2 + 8 917 c.301G>T c.(301-303)GTG>TTG p.V101L ZC3H11A_uc001had.2_Missense_Mutation_p.V101L|ZC3H11A_uc001hae.2_Missense_Mutation_p.V101L|ZC3H11A_uc001haf.2_Missense_Mutation_p.V101L|ZC3H11A_uc010pqm.1_Missense_Mutation_p.V47L|ZC3H11A_uc001hag.1_Missense_Mutation_p.V101L NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 101 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GCGTTTAGCTGTGTTGCCCAC 0.418 13 57 --- --- --- --- PASS PPP1R15B 84919 broad.mit.edu 37 1 204380249 204380249 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:204380249T>C uc001hav.3 - 1 696 c.291A>G c.(289-291)CTA>CTG p.L97L NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 97 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CAGCAAAATCTAGCCATCTGG 0.567 32 68 --- --- --- --- PASS LPGAT1 9926 broad.mit.edu 37 1 211952259 211952259 + Splice_Site SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:211952259C>G uc001hiu.2 - 6 1667 c.854_splice c.e6+1 p.R285_splice LPGAT1_uc001hiv.2_Splice_Site_p.R285_splice NM_014873 NP_055688 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) AGAATTCTTACCTGTAATGTA 0.318 10 76 --- --- --- --- PASS CENPF 1063 broad.mit.edu 37 1 214805946 214805946 + Splice_Site SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:214805946G>T uc001hkm.2 + 10 1620 c.1446_splice c.e10+1 p.E482_splice NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGCATGGAGGTAAGGGAGGA 0.438 8 19 --- --- --- --- PASS CENPF 1063 broad.mit.edu 37 1 214816281 214816281 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:214816281G>T uc001hkm.2 + 12 4774 c.4600G>T c.(4600-4602)GAG>TAG p.E1534* NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1630 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TCTGCAGGAGGAGAATCTGAC 0.498 8 52 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215823956 215823956 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:215823956C>T uc001hku.1 - 65 14708 c.14321G>A c.(14320-14322)AGC>AAC p.S4774N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4774 Fibronectin type-III 33.|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) CCCATGGGCGCTGCTGGAGAA 0.483 HNSCC(13;0.011) 9 83 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215901539 215901539 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:215901539C>G uc001hku.1 - 61 12286 c.11899G>C c.(11899-11901)GAT>CAT p.D3967H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3967 Fibronectin type-III 25.|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) GCTGGAAAATCTTGAGGTGGA 0.483 HNSCC(13;0.011) 19 36 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215990448 215990448 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:215990448G>C uc001hku.1 - 48 9848 c.9461C>G c.(9460-9462)GCT>GGT p.A3154G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3154 Extracellular (Potential).|Fibronectin type-III 18. 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) TTGAGTTTTAGCGCATGGATA 0.428 HNSCC(13;0.011) 25 41 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216052200 216052200 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:216052200G>C uc001hku.1 - 42 8851 c.8464C>G c.(8464-8466)CAG>GAG p.Q2822E NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2822 Extracellular (Potential).|Fibronectin type-III 15. 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) CCAACATTCTGAGGTACGGTG 0.458 HNSCC(13;0.011) 23 67 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216052283 216052283 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:216052283A>T uc001hku.1 - 42 8768 c.8381T>A c.(8380-8382)GTT>GAT p.V2794D NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2794 Fibronectin type-III 14.|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) TGAGCAAGCAACAATGGTGAC 0.458 HNSCC(13;0.011) 24 122 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216363668 216363668 + Silent SNP T A A rs142068313 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:216363668T>A uc001hku.1 - 20 4680 c.4293A>T c.(4291-4293)GTA>GTT p.V1431V USH2A_uc001hkv.2_Silent_p.V1431V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1431 Extracellular (Potential).|Fibronectin type-III 4. 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) TCAGTCCTTCTACAGTGTAAG 0.348 HNSCC(13;0.011) 14 42 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216595351 216595351 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:216595351T>C uc001hku.1 - 2 715 c.328A>G c.(328-330)ACA>GCA p.T110A USH2A_uc001hkv.2_Missense_Mutation_p.T110A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 110 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) TTGTCTGGTGTGATGCAGCTA 0.453 HNSCC(13;0.011) 10 40 --- --- --- --- PASS RRP15 51018 broad.mit.edu 37 1 218458684 218458684 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:218458684G>T uc001hlj.2 + 1 56 c.26G>T c.(25-27)CGT>CTT p.R9L NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog 9 mitochondrion|nucleolus protein binding 0 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) CCGGACTCACGTGTGAGTGAG 0.547 3 20 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220152881 220152881 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:220152881C>A uc001hly.1 - 27 4058 c.3788G>T c.(3787-3789)GGA>GTA p.G1263V NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1263 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTGCTTCTCTCCTGGTATCTT 0.388 11 63 --- --- --- --- PASS DUSP10 11221 broad.mit.edu 37 1 221912899 221912899 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:221912899G>A uc001hmy.1 - 2 370 c.188C>T c.(187-189)TCA>TTA p.S63L DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 63 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) GCCGCTGGATGAGGGCATATA 0.587 10 51 --- --- --- --- PASS DUSP10 11221 broad.mit.edu 37 1 221912900 221912900 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:221912900A>T uc001hmy.1 - 2 369 c.187T>A c.(187-189)TCA>ACA p.S63T DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 63 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) CCGCTGGATGAGGGCATATAC 0.582 10 51 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229568800 229568800 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:229568800G>C uc001htm.2 - 2 168 c.63C>G c.(61-63)GCC>GCG p.A21A NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 21 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CGGCGAAGCCGGCTTTCACCA 0.672 6 31 --- --- --- --- PASS DISC1 27185 broad.mit.edu 37 1 231885718 231885718 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:231885718C>A uc001huz.2 + 4 1217 c.1164C>A c.(1162-1164)ATC>ATA p.I388I TSNAX-DISC1_uc010pwf.1_3'UTR|TSNAX-DISC1_uc010pwg.1_Silent_p.I377I|TSNAX-DISC1_uc010pwh.1_Silent_p.I343I|TSNAX-DISC1_uc010pwi.1_Silent_p.I343I|TSNAX-DISC1_uc010pwj.1_Silent_p.I377I|TSNAX-DISC1_uc010pwk.1_Silent_p.I377I|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_3'UTR|DISC1_uc010pwp.1_Silent_p.I388I|DISC1_uc010pwq.1_Silent_p.I388I|DISC1_uc010pwr.1_Silent_p.I388I|DISC1_uc010pws.1_Silent_p.I388I|DISC1_uc010pwt.1_Silent_p.I388I|DISC1_uc010pwu.1_Silent_p.I38I|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.I388I|DISC1_uc010pwx.1_Intron|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.I388I|DISC1_uc010pxb.1_Silent_p.I388I|DISC1_uc010pxc.1_Silent_p.I388I|DISC1_uc010pxd.1_Silent_p.I33I|DISC1_uc010pxe.1_Silent_p.I388I|DISC1_uc009xfr.2_Silent_p.I343I|DISC1_uc010pxf.1_Silent_p.I388I|DISC1_uc010pxg.1_Silent_p.I388I|DISC1_uc010pxh.1_Silent_p.I420I|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Silent_p.I33I|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Silent_p.I388I|DISC1_uc010pxn.1_Silent_p.I33I|DISC1_uc001hva.2_Silent_p.I388I NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 388 Interaction with TRAF3IP1.|Potential. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) AAGAGAAAATCAGCCTGCACT 0.483 32 53 --- --- --- --- PASS SLC35F3 148641 broad.mit.edu 37 1 234041325 234041325 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:234041325G>T uc001hvy.1 + 2 249 c.104G>T c.(103-105)AGC>ATC p.S35I NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 Error:Variant_position_missing_in_Q8IY50_after_alignment transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TCCGACATCAGCCCCCAGCTC 0.667 23 30 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234565935 234565935 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:234565935C>A uc001hwd.2 - 15 2507 c.2507G>T c.(2506-2508)GGG>GTG p.G836V NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 836 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TTCCAGGGGCCCAGCATGGAG 0.572 22 102 --- --- --- --- PASS LGALS8 3964 broad.mit.edu 37 1 236702237 236702237 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:236702237C>A uc001hxz.1 + 5 574 c.193C>A c.(193-195)CAT>AAT p.H65N LGALS8_uc001hxw.1_Missense_Mutation_p.H65N|LGALS8_uc001hxy.1_Missense_Mutation_p.H65N|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.H65N|LGALS8_uc001hyb.1_Missense_Mutation_p.H65N|LGALS8_uc001hyc.1_Missense_Mutation_p.H65N NM_201543 NP_963837 O00214 LEG8_HUMAN galectin-8 isoform b 65 Galectin 1. cytoplasm|extracellular space sugar binding ovary(1) 1 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGTGGCCTTTCATTTCAATCC 0.478 12 31 --- --- --- --- PASS LGALS8 3964 broad.mit.edu 37 1 236711372 236711372 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:236711372G>C uc001hxz.1 + 11 1246 c.865G>C c.(865-867)GAG>CAG p.E289Q LGALS8_uc001hxw.1_Missense_Mutation_p.E331Q|LGALS8_uc001hxy.1_Missense_Mutation_p.E331Q|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.E289Q|LGALS8_uc001hyb.1_Missense_Mutation_p.E289Q|LGALS8_uc001hyc.1_Missense_Mutation_p.E272Q NM_201543 NP_963837 O00214 LEG8_HUMAN galectin-8 isoform b 289 Galectin 2. cytoplasm|extracellular space sugar binding ovary(1) 1 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ACACAGCCTGGAGTACAAACA 0.418 23 50 --- --- --- --- PASS HEATR1 55127 broad.mit.edu 37 1 236751300 236751300 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:236751300C>A uc001hyd.1 - 13 1699 c.1574G>T c.(1573-1575)CGA>CTA p.R525L NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 525 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATCACCTAATCGGGCTAAAAC 0.328 8 38 --- --- --- --- PASS HEATR1 55127 broad.mit.edu 37 1 236751301 236751301 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:236751301G>A uc001hyd.1 - 13 1698 c.1573C>T c.(1573-1575)CGA>TGA p.R525* NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 525 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TCACCTAATCGGGCTAAAACA 0.333 9 38 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236911049 236911049 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:236911049A>G uc001hyf.2 + 13 1693 c.1489A>G c.(1489-1491)ACT>GCT p.T497A ACTN2_uc001hyg.2_Missense_Mutation_p.T289A|ACTN2_uc009xgi.1_Missense_Mutation_p.T497A|ACTN2_uc010pxu.1_Missense_Mutation_p.T186A|ACTN2_uc001hyh.2_Missense_Mutation_p.T185A NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 497 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GGGAACGCTTACTCAGAAGAG 0.398 13 35 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237617764 237617764 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:237617764C>A uc001hyl.1 + 15 1486 c.1366C>A c.(1366-1368)CTG>ATG p.L456M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 456 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGCCTAAGTCTGCAGGATCT 0.453 10 125 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237619941 237619941 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:237619941C>G uc001hyl.1 + 16 1638 c.1518C>G c.(1516-1518)CAC>CAG p.H506Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 506 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACCGTTTGCACGTCTACAGCA 0.433 62 112 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237632437 237632437 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:237632437G>T uc001hyl.1 + 17 1778 c.1658G>T c.(1657-1659)GGC>GTC p.G553V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 553 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAATTTTCTGGCTCCCTCGAC 0.373 10 77 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237730076 237730076 + Splice_Site SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:237730076G>T uc001hyl.1 + 28 3543 c.3423_splice c.e28+1 p.K1141_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGCTTCAAGGTGAGTGGACT 0.537 50 191 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237778138 237778138 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:237778138T>C uc001hyl.1 + 37 5830 c.5710T>C c.(5710-5712)TTG>CTG p.L1904L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1904 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCAGTTAAATTGCAGGTAAT 0.458 9 45 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237948232 237948232 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:237948232G>C uc001hyl.1 + 90 13340 c.13220G>C c.(13219-13221)AGC>ACC p.S4407T RYR2_uc010pya.1_Missense_Mutation_p.S822T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4407 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACCTCATGAGCAACCCAGTC 0.458 7 34 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237955581 237955581 + Silent SNP G C C rs115854664 by1000genomes TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:237955581G>C uc001hyl.1 + 94 13860 c.13740G>C c.(13738-13740)ACG>ACC p.T4580T RYR2_uc010pyb.1_Silent_p.T13T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4580 Helical; Name=M6; (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCTGCACACGGTCATTTCTT 0.393 9 95 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237982461 237982461 + Missense_Mutation SNP T G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:237982461T>G uc001hyl.1 + 101 14679 c.14559T>G c.(14557-14559)TTT>TTG p.F4853L RYR2_uc010pyb.1_Missense_Mutation_p.F286L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4853 Helical; Name=M10; (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTTCTTCTTTGTTATTGTCA 0.408 27 140 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238050774 238050774 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:238050774C>A uc001hym.2 - 5 641 c.641G>T c.(640-642)CGC>CTC p.R214L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 214 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) AAGGGCCAAGCGCACAGAATC 0.507 38 154 --- --- --- --- PASS CEP170 9859 broad.mit.edu 37 1 243349566 243349566 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:243349566C>A uc001hzs.2 - 9 1675 c.1267G>T c.(1267-1269)GCT>TCT p.A423S CEP170_uc001hzt.2_Missense_Mutation_p.A423S|CEP170_uc001hzu.2_Missense_Mutation_p.A423S NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 423 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CTTACAACAGCTTGGTCTTGA 0.413 31 172 --- --- --- --- PASS SDCCAG8 10806 broad.mit.edu 37 1 243480191 243480191 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:243480191C>A uc001hzw.2 + 9 1220 c.1064C>A c.(1063-1065)ACC>AAC p.T355N SDCCAG8_uc010pyk.1_Missense_Mutation_p.T210N|SDCCAG8_uc010pyl.1_Missense_Mutation_p.T167N|SDCCAG8_uc001hzx.2_Missense_Mutation_p.T167N NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 355 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TTTGAAAAAACCAAGGCAAGT 0.328 34 32 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247419484 247419484 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:247419484C>G uc010pyu.1 + 1 111 c.111C>G c.(109-111)ATC>ATG p.I37M NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 37 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CTAAGATGATCAAACTTCCTG 0.343 23 104 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247582273 247582273 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:247582273C>A uc001icr.2 + 3 315 c.177C>A c.(175-177)ATC>ATA p.I59I NLRP3_uc001ics.2_Silent_p.I59I|NLRP3_uc001icu.2_Silent_p.I59I|NLRP3_uc001icw.2_Silent_p.I59I|NLRP3_uc001icv.2_Silent_p.I59I|NLRP3_uc010pyw.1_Silent_p.I57I|NLRP3_uc001ict.1_Silent_p.I57I NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 59 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.I59M(1) lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CGCTAATGATCGACTTCAATG 0.547 11 35 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875361 247875361 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:247875361C>A uc001idj.1 - 1 697 c.697G>T c.(697-699)GGC>TGC p.G233C NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 233 Cytoplasmic (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) TTGCTCCGGCCACTGGCAGAG 0.517 32 120 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247920865 247920865 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:247920865C>G uc010pza.1 - 1 844 c.844G>C c.(844-846)GCT>CCT p.A282P NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGCATCGGAGCCACCATTGAA 0.478 24 115 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248263520 248263520 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248263520C>A uc001ids.2 + 3 1180 c.843C>A c.(841-843)ACC>ACA p.T281T NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCATCCTTACCCCCATGCTCA 0.463 15 82 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525735 248525735 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248525735G>T uc001ieh.1 + 1 853 c.853G>T c.(853-855)GGG>TGG p.G285W NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 285 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTCTTCTATGGGGCTGCCAT 0.547 110 81 --- --- --- --- PASS OR2T2 401992 broad.mit.edu 37 1 248616135 248616135 + Missense_Mutation SNP T G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248616135T>G uc001iek.1 + 1 37 c.37T>G c.(37-39)TTC>GTC p.F13V NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCACTAACTTCGTCCTCAC 0.502 14 149 --- --- --- --- PASS OR2T3 343173 broad.mit.edu 37 1 248637586 248637586 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248637586C>A uc001iel.1 + 1 935 c.935C>A c.(934-936)TCA>TAA p.S312* NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGATGCAGTCAAGAATGAAC 0.478 35 297 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685105 248685105 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248685105C>A uc001ien.1 + 1 158 c.158C>A c.(157-159)TCC>TAC p.S53Y NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 53 Cytoplasmic (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) TGTCTGGACTCCAGACTCCAC 0.483 5 75 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685106 248685106 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248685106C>A uc001ien.1 + 1 159 c.159C>A c.(157-159)TCC>TCA p.S53S NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 53 Cytoplasmic (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) GTCTGGACTCCAGACTCCACA 0.478 7 75 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685110 248685110 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248685110C>G uc001ien.1 + 1 163 c.163C>G c.(163-165)CTC>GTC p.L55V NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 55 Cytoplasmic (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) GGACTCCAGACTCCACACTCC 0.468 42 38 --- --- --- --- PASS OR2T10 127069 broad.mit.edu 37 1 248756222 248756222 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248756222G>A uc010pzn.1 - 1 848 c.848C>T c.(847-849)CCT>CTT p.P283L NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATTCAAGACAGGTGTAAGGAT 0.398 8 43 --- --- --- --- PASS OR2T10 127069 broad.mit.edu 37 1 248756589 248756589 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248756589G>T uc010pzn.1 - 1 481 c.481C>A c.(481-483)CCC>ACC p.P161T NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGGCGATGGGAGTGAGCATG 0.537 14 150 --- --- --- --- PASS OR2T11 127077 broad.mit.edu 37 1 248790288 248790288 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:248790288C>T uc001ier.1 - 1 142 c.142G>A c.(142-144)GTG>ATG p.V48M NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 48 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGAGAGTCCACCTGAATCAAG 0.498 19 87 --- --- --- --- PASS TMEM18 129787 broad.mit.edu 37 2 675608 675608 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:675608C>A uc002qwl.2 - 2 174 c.80G>T c.(79-81)TGG>TTG p.W27L TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 27 Helical; (Potential). cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) CCCCATGAGCCAGGGCTCAGT 0.612 4 25 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1926494 1926494 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:1926494C>T uc002qxe.2 - 10 1874 c.1047G>A c.(1045-1047)AGG>AGA p.R349R MYT1L_uc002qxd.2_Silent_p.R349R|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 349 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCTGCGGATTCCTCTCCTGCG 0.567 8 33 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1927027 1927027 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:1927027G>A uc002qxe.2 - 10 1341 c.514C>T c.(514-516)CAA>TAA p.Q172* MYT1L_uc002qxd.2_Nonsense_Mutation_p.Q172*|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 172 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CAATTCATTTGATGGTCTTCT 0.313 4 12 --- --- --- --- PASS KCNS3 3790 broad.mit.edu 37 2 18113462 18113462 + Nonsense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:18113462T>A uc002rcv.2 + 3 1638 c.1187T>A c.(1186-1188)TTG>TAG p.L396* KCNS3_uc002rcw.2_Nonsense_Mutation_p.L396* NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 396 Helical; Name=Segment S6; (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TGTGGCATCTTGGTGGTGGCC 0.532 7 48 --- --- --- --- PASS NT5C1B 93034 broad.mit.edu 37 2 18765908 18765908 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:18765908G>A uc002rcz.2 - 5 879 c.775C>T c.(775-777)CTG>TTG p.L259L NT5C1B_uc002rcy.2_Silent_p.L259L|NT5C1B_uc010exr.2_Silent_p.L201L|NT5C1B_uc010yju.1_Silent_p.L199L|NT5C1B_uc002rda.2_Silent_p.L199L|NT5C1B_uc010yjv.1_Silent_p.L276L|NT5C1B_uc010yjw.1_Silent_p.L242L|NT5C1B_uc010exs.2_Silent_p.L261L|NT5C1B_uc002rdb.1_Silent_p.L51L NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 259 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TTGCGGTCCAGCTGGGTGGAG 0.652 4 7 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21234330 21234330 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:21234330T>C uc002red.2 - 26 5538 c.5410A>G c.(5410-5412)AAT>GAT p.N1804D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1804 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCAGAGCATTGTATTTCAGG 0.393 19 104 --- --- --- --- PASS ADCY3 109 broad.mit.edu 37 2 25061456 25061456 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:25061456A>T uc002rfs.3 - 7 1590 c.1391T>A c.(1390-1392)CTG>CAG p.L464Q ADCY3_uc002rfr.3_Missense_Mutation_p.L97Q|ADCY3_uc010ykm.1_Missense_Mutation_p.L464Q NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 464 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CTCCCCTTTCAGGCAGTCCAT 0.597 21 114 --- --- --- --- PASS HADHA 3030 broad.mit.edu 37 2 26424190 26424190 + Splice_Site SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:26424190C>G uc002rgy.2 - 13 1351 c.1221_splice c.e13-1 p.G407_splice HADHA_uc010yks.1_Splice_Site_p.G320_splice NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) GTCATTCAATCTAGAAAAAAC 0.259 8 33 --- --- --- --- PASS DPYSL5 56896 broad.mit.edu 37 2 27167686 27167686 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:27167686C>A uc002rhu.3 + 12 1761 c.1603C>A c.(1603-1605)CTC>ATC p.L535I DPYSL5_uc002rhv.3_Missense_Mutation_p.L535I NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 535 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCTTCAGCCTCTCTGGTAA 0.607 11 28 --- --- --- --- PASS GTF3C2 2976 broad.mit.edu 37 2 27552333 27552333 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:27552333G>C uc002rjv.1 - 14 2153 c.1790C>G c.(1789-1791)TCT>TGT p.S597C GTF3C2_uc010eyy.1_Missense_Mutation_p.S52C|GTF3C2_uc002rju.1_Missense_Mutation_p.S608C|GTF3C2_uc002rjw.1_Missense_Mutation_p.S597C NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 597 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGCCATCAGAGAGCCGTAT 0.493 29 139 --- --- --- --- PASS IFT172 26160 broad.mit.edu 37 2 27684180 27684180 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:27684180C>G uc002rku.2 - 22 2449 c.2398G>C c.(2398-2400)GAA>CAA p.E800Q NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 800 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) GTGATGTGTTCTACCAGCTCT 0.557 25 65 --- --- --- --- PASS CAPN13 92291 broad.mit.edu 37 2 30998812 30998812 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:30998812C>G uc002rnn.2 - 4 547 c.371G>C c.(370-372)GGC>GCC p.G124A CAPN13_uc002rnp.1_Missense_Mutation_p.G124A NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 124 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) ACGGAAAATGCCAGCATACTG 0.512 11 60 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33500942 33500942 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:33500942G>T uc002ros.2 + 18 2947 c.2947G>T c.(2947-2949)GAA>TAA p.E983* LTBP1_uc002rot.2_Nonsense_Mutation_p.E657*|LTBP1_uc002rou.2_Nonsense_Mutation_p.E656*|LTBP1_uc002rov.2_Nonsense_Mutation_p.E603*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.E656*|LTBP1_uc010yna.1_Nonsense_Mutation_p.E603* NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 982 EGF-like 6; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTTCCGGTGTGAATACTGTGA 0.557 9 63 --- --- --- --- PASS VIT 5212 broad.mit.edu 37 2 37002155 37002155 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:37002155G>A uc002rpl.2 + 9 968 c.747G>A c.(745-747)AGG>AGA p.R249R VIT_uc002rpm.2_Silent_p.R242R|VIT_uc010ezv.2_Intron|VIT_uc010ezw.2_Silent_p.R242R NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 249 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) GTATCCAAAGGCAAGATCCTT 0.507 5 44 --- --- --- --- PASS DHX57 90957 broad.mit.edu 37 2 39089399 39089399 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:39089399C>A uc002rrf.2 - 4 559 c.460G>T c.(460-462)GAA>TAA p.E154* DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Nonsense_Mutation_p.E154* NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 154 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) AGGGAAGGTTCCTGTCCAGCT 0.498 6 39 --- --- --- --- PASS SRBD1 55133 broad.mit.edu 37 2 45832512 45832512 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:45832512T>A uc002rus.2 - 2 145 c.69A>T c.(67-69)TCA>TCT p.S23S NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 23 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) ACTCAGAGAATGAAGAAAATT 0.358 11 66 --- --- --- --- PASS KLRAQ1 129285 broad.mit.edu 37 2 48713811 48713811 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:48713811G>C uc002rwm.2 + 14 1545 c.1360G>C c.(1360-1362)GAA>CAA p.E454Q KLRAQ1_uc002rwj.2_Missense_Mutation_p.E454Q|KLRAQ1_uc002rwl.2_Missense_Mutation_p.E408Q|KLRAQ1_uc002rwk.2_Missense_Mutation_p.E454Q|KLRAQ1_uc010yok.1_Missense_Mutation_p.E454Q NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 454 ovary(1) 1 AATAGAGCATGAACTTCCAAC 0.323 3 46 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49190184 49190184 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:49190184G>T uc002rww.2 - 10 1850 c.1776C>A c.(1774-1776)GCC>GCA p.A592A FSHR_uc002rwx.2_Silent_p.A530A|FSHR_uc010fbn.2_Silent_p.A566A NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 592 Helical; Name=6; (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGGCAGAAATGGCAAAGAAAG 0.527 Gonadal_Dysgenesis_46_XX 8 31 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50699459 50699459 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:50699459C>A uc010fbq.2 - 16 4818 c.3341G>T c.(3340-3342)GGA>GTA p.G1114V NRXN1_uc002rxb.3_Missense_Mutation_p.G746V|NRXN1_uc002rxe.3_Missense_Mutation_p.G1074V|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_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) CTCGATCTGTCCGTTGCAGAA 0.438 9 34 --- --- --- --- PASS GPR75 10936 broad.mit.edu 37 2 54080608 54080608 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:54080608G>A uc002rxo.3 - 2 1557 c.1286C>T c.(1285-1287)TCT>TTT p.S429F ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 429 Cytoplasmic (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) CATGTAGGCAGAGTTTGTTTC 0.448 41 60 --- --- --- --- PASS PAPOLG 64895 broad.mit.edu 37 2 61002258 61002258 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:61002258C>T uc002sai.2 + 8 925 c.694C>T c.(694-696)CGA>TGA p.R232* PAPOLG_uc002saj.2_Translation_Start_Site|PAPOLG_uc002sak.2_Translation_Start_Site NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 232 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1)|central_nervous_system(1) 2 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) ATGGGCAAAACGTAAGTATCC 0.318 6 21 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63176204 63176204 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:63176204G>A uc002sby.2 + 14 2810 c.2328G>A c.(2326-2328)AAG>AAA p.K776K EHBP1_uc010fcp.2_Silent_p.K741K|EHBP1_uc002sbz.2_Silent_p.K741K|EHBP1_uc002scb.2_Silent_p.K741K NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 776 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) ACCTTGCTAAGAAAAAACATG 0.378 Hereditary_Prostate_Cancer 13 39 --- --- --- --- PASS ARHGAP25 9938 broad.mit.edu 37 2 69046400 69046400 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:69046400G>T uc002seu.2 + 9 1510 c.1146G>T c.(1144-1146)TGG>TGT p.W382C ARHGAP25_uc010fdg.2_Missense_Mutation_p.W383C|ARHGAP25_uc010yql.1_Missense_Mutation_p.W343C|ARHGAP25_uc002sev.2_Missense_Mutation_p.W376C|ARHGAP25_uc002sew.2_Missense_Mutation_p.W375C|ARHGAP25_uc002sex.2_Missense_Mutation_p.W376C|ARHGAP25_uc002sey.2_Missense_Mutation_p.W109C NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 382 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 CTGTAGGCTGGGATGCCACTG 0.522 16 98 --- --- --- --- PASS ANTXR1 84168 broad.mit.edu 37 2 69409643 69409643 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:69409643G>T uc002sfg.2 + 16 1560 c.1204G>T c.(1204-1206)GGC>TGC p.G402C NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 402 Cytoplasmic (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 GGGAGAAAAGGGCTCCACAGA 0.413 Familial_Infantile_Hemangioma 27 45 --- --- --- --- PASS ASPRV1 151516 broad.mit.edu 37 2 70187820 70187820 + Nonsense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:70187820G>C uc002sfz.3 - 1 1578 c.1001C>G c.(1000-1002)TCA>TGA p.S334* NM_152792 NP_690005 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 precursor 334 Extracellular (Potential). protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity ovary(1) 1 CCCTTCTTCTGAGGAGGGGTC 0.552 17 97 --- --- --- --- PASS MCEE 84693 broad.mit.edu 37 2 71351516 71351516 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:71351516C>A uc002shs.2 - 2 243 c.198G>T c.(196-198)AAG>AAT p.K66N NM_032601 NP_115990 Q96PE7 MCEE_HUMAN methylmalonyl CoA epimerase precursor 66 fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process mitochondrial matrix methylmalonyl-CoA epimerase activity ovary(1) 1 CCAGAATATTCTTATAAAATG 0.478 16 119 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71838380 71838380 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:71838380G>T uc002sie.2 + 37 4285 c.3909G>T c.(3907-3909)GAG>GAT p.E1303D DYSF_uc010feg.2_Missense_Mutation_p.E1334D|DYSF_uc010feh.2_Missense_Mutation_p.E1289D|DYSF_uc002sig.3_Missense_Mutation_p.E1289D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1303D|DYSF_uc010fef.2_Missense_Mutation_p.E1320D|DYSF_uc010fei.2_Missense_Mutation_p.E1320D|DYSF_uc010fek.2_Missense_Mutation_p.E1321D|DYSF_uc010fej.2_Missense_Mutation_p.E1290D|DYSF_uc010fel.2_Missense_Mutation_p.E1290D|DYSF_uc010feo.2_Missense_Mutation_p.E1335D|DYSF_uc010fem.2_Missense_Mutation_p.E1304D|DYSF_uc010fen.2_Missense_Mutation_p.E1321D|DYSF_uc002sif.2_Missense_Mutation_p.E1304D|DYSF_uc010yqy.1_Missense_Mutation_p.E184D|DYSF_uc010yqz.1_Missense_Mutation_p.E43D NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1303 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TGCAGTCTGAGGACACAGACC 0.403 7 26 --- --- --- --- PASS CCT7 10574 broad.mit.edu 37 2 73476157 73476157 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:73476157C>G uc002siz.2 + 8 924 c.822C>G c.(820-822)CTC>CTG p.L274L CCT7_uc002sja.2_Silent_p.L70L|CCT7_uc010yrf.1_Silent_p.L230L|CCT7_uc010feu.2_Silent_p.L232L|CCT7_uc010yrg.1_Silent_p.L174L|CCT7_uc010yrh.1_Silent_p.L146L|CCT7_uc010yri.1_Silent_p.L187L NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 274 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 GGAACATTCTCTATGACAAGT 0.468 20 35 --- --- --- --- PASS ACTG2 72 broad.mit.edu 37 2 74141957 74141957 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:74141957G>T uc002sjw.2 + 7 886 c.764G>T c.(763-765)CGC>CTC p.R255L ACTG2_uc010fey.2_Missense_Mutation_p.R255L|ACTG2_uc010yrn.1_Missense_Mutation_p.R212L NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 255 muscle contraction cytoskeleton|cytosol ATP binding 0 GGCAATGAGCGCTTCCGCTGC 0.567 5 37 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77745792 77745792 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:77745792T>A uc002snr.2 - 3 1618 c.1203A>T c.(1201-1203)ACA>ACT p.T401T LRRTM4_uc002snq.2_Silent_p.T401T|LRRTM4_uc002sns.2_Silent_p.T401T|LRRTM4_uc002snt.2_Silent_p.T402T NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 401 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) AAGGGCTTGGTGTTTCAAAGG 0.488 24 31 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79347993 79347993 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:79347993T>A uc002snz.2 + 2 109 c.6T>A c.(4-6)GCT>GCA p.A2A REG1A_uc010ffx.1_Silent_p.A2A|REG1A_uc010ysd.1_Silent_p.A2A NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 2 positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TCAGCATGGCTCAGACCAGCT 0.463 8 25 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90121911 90121911 + RNA SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:90121911C>A uc010fhm.2 + 16 c.1780C>A Parts of antibodies, mostly variable regions. GAGTCACCATCACTTGTCGGG 0.478 54 158 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90249214 90249214 + RNA SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:90249214G>A uc010fhm.2 + 28 c.3757G>A Parts of antibodies, mostly variable regions. TATTTAGCCTGGTATCAGCAA 0.507 24 189 --- --- --- --- PASS ZAP70 7535 broad.mit.edu 37 2 98351741 98351741 + Missense_Mutation SNP C A A rs56202620 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:98351741C>A uc002syd.1 + 10 1318 c.1111C>A c.(1111-1113)CTG>ATG p.L371M ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.L261M|ZAP70_uc002syf.1_Missense_Mutation_p.L64M NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 371 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 CATCAAGGTGCTGAAGCAGGG 0.672 8 62 --- --- --- --- PASS MRPL30 51263 broad.mit.edu 37 2 99812039 99812039 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:99812039C>G uc002szu.2 + 6 519 c.357C>G c.(355-357)ATC>ATG p.I119M MRPL30_uc002szl.1_RNA|MRPL30_uc002szt.1_RNA|MRPL30_uc002szv.2_Missense_Mutation_p.I119M NM_145213 NP_660214 Q8TCC3 RM30_HUMAN RecName: Full=39S ribosomal protein L30, mitochondrial; Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor; 119 translation mitochondrion|ribosome structural constituent of ribosome ovary(1) 1 GTCACAGAATCAAGCCCTTGA 0.299 81 133 --- --- --- --- PASS NPAS2 4862 broad.mit.edu 37 2 101592003 101592003 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:101592003G>T uc002tap.1 + 14 1652 c.1366G>T c.(1366-1368)GGG>TGG p.G456W NPAS2_uc010yvt.1_Missense_Mutation_p.G521W|NPAS2_uc010fit.1_Missense_Mutation_p.G34W NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 456 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 ACCTGTCCCCGGGCTCAGCCA 0.617 15 36 --- --- --- --- PASS SLC5A7 60482 broad.mit.edu 37 2 108618456 108618456 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:108618456C>T uc002tdv.2 + 6 977 c.701C>T c.(700-702)TCA>TTA p.S234L SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.S234L|SLC5A7_uc010ywn.1_Missense_Mutation_p.S121L NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 234 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) ACTGTTGACTCATCTGAAGTC 0.428 17 40 --- --- --- --- PASS SLC5A7 60482 broad.mit.edu 37 2 108626752 108626752 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:108626752C>A uc002tdv.2 + 9 1454 c.1178C>A c.(1177-1179)ACA>AAA p.T393K SLC5A7_uc010ywm.1_Missense_Mutation_p.T146K|SLC5A7_uc010fjj.2_Missense_Mutation_p.T393K|SLC5A7_uc010ywn.1_Missense_Mutation_p.T280K NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 393 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GCATCTGCAACAGCCATGGCC 0.458 16 33 --- --- --- --- PASS SH3RF3 344558 broad.mit.edu 37 2 110049062 110049062 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:110049062G>C uc010ywt.1 + 6 1509 c.1509G>C c.(1507-1509)AAG>AAC p.K503N NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 503 SH3 3. zinc ion binding ovary(1) 1 GCTGGTTCAAGGGGGCGTCTC 0.617 10 20 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 124999952 124999952 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:124999952A>T uc002tno.2 + 3 727 c.363A>T c.(361-363)AAA>AAT p.K121N CNTNAP5_uc010flu.2_Missense_Mutation_p.K121N NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 121 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AACAGTACAAACAAGAAGACA 0.443 19 32 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125281886 125281886 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:125281886A>C uc002tno.2 + 9 1695 c.1331A>C c.(1330-1332)AAC>ACC p.N444T CNTNAP5_uc010flu.2_Missense_Mutation_p.N445T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 444 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCAGGCAGCAACTTGAATGAT 0.557 21 23 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125530503 125530503 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:125530503C>A uc002tno.2 + 17 3022 c.2658C>A c.(2656-2658)ACC>ACA p.T886T CNTNAP5_uc010flu.2_Silent_p.T887T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 886 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TCAAGGAGACCTCCCTGCAGG 0.547 34 35 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125669111 125669111 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:125669111C>T uc002tno.2 + 23 4084 c.3720C>T c.(3718-3720)ATC>ATT p.I1240I CNTNAP5_uc010flu.2_Silent_p.I1241I NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1240 Helical; (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CGGCAGTCATCGGAGGTAAAC 0.413 5 7 --- --- --- --- PASS GPR148 344561 broad.mit.edu 37 2 131487661 131487661 + Missense_Mutation SNP C T T rs147627830 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:131487661C>T uc002trv.1 + 1 939 c.937C>T c.(937-939)CGT>TGT p.R313C NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 313 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) GATGCTTCCCCGTGCCATGCT 0.587 33 23 --- --- --- --- PASS R3HDM1 23518 broad.mit.edu 37 2 136467716 136467716 + Missense_Mutation SNP C T T rs145608320 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:136467716C>T uc002tuo.2 + 22 2916 c.2546C>T c.(2545-2547)CCG>CTG p.P849L R3HDM1_uc010fni.2_Missense_Mutation_p.P848L|R3HDM1_uc002tup.2_Missense_Mutation_p.P794L|R3HDM1_uc010zbh.1_Missense_Mutation_p.P597L NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 849 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) CACTCACCCCCGCAGTGGAAA 0.468 OREG0014997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 47 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 142004852 142004852 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:142004852T>A uc002tvj.1 - 5 1507 c.535A>T c.(535-537)AGT>TGT p.S179C LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 179 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCCACACAACTGCAAGTGTAG 0.388 TSP Lung(27;0.18) 34 33 --- --- --- --- PASS EPC2 26122 broad.mit.edu 37 2 149539297 149539297 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:149539297A>T uc010zbt.1 + 11 1832 c.1805A>T c.(1804-1806)CAG>CTG p.Q602L NM_015630 NP_056445 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 602 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1)|breast(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0516) GCCCAGCTTCAGCAGAAACAG 0.433 8 124 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152374923 152374923 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:152374923T>C uc010fnx.2 - 128 17797 c.17606A>G c.(17605-17607)AAG>AGG p.K5869R NEB_uc002txr.2_Missense_Mutation_p.K2292R|NEB_uc002txt.3_Missense_Mutation_p.K374R NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5869 Nebulin 160. 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) CTCATACTTCTTCTTGTACTG 0.438 8 125 --- --- --- --- PASS TANC1 85461 broad.mit.edu 37 2 160031569 160031569 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:160031569G>T uc002uag.2 + 12 1883 c.1609G>T c.(1609-1611)GCC>TCC p.A537S TANC1_uc010fol.1_Missense_Mutation_p.A431S|TANC1_uc010zcm.1_Missense_Mutation_p.A529S|TANC1_uc010fom.1_Missense_Mutation_p.A343S|TANC1_uc002uai.1_5'Flank NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 537 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TCAGCTGGCCGCCTACAGAGA 0.592 5 130 --- --- --- --- PASS TANC1 85461 broad.mit.edu 37 2 160076237 160076237 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:160076237G>A uc002uag.2 + 22 3811 c.3537G>A c.(3535-3537)CTG>CTA p.L1179L TANC1_uc010zcm.1_Silent_p.L1171L|TANC1_uc010fom.1_Silent_p.L985L|TANC1_uc010fon.2_Silent_p.L23L NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1179 ANK 9. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AAGAGGGTCTGTCAGCATTAA 0.468 26 17 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162760565 162760565 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:162760565G>T uc002ubx.3 + 13 1678 c.1494G>T c.(1492-1494)TGG>TGT p.W498C SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.W468C|SLC4A10_uc010zcs.1_Missense_Mutation_p.W479C NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 498 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 CATACTTCTGGAGTGACTTCA 0.418 8 7 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162873370 162873370 + Missense_Mutation SNP C G G rs17848907 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:162873370C>G uc002ubz.2 - 18 2036 c.1475G>C c.(1474-1476)AGA>ACA p.R492T DPP4_uc010fpb.2_Missense_Mutation_p.R168T NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 492 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) TTCCAGGACTCTCAGCCCTAA 0.368 5 34 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168101798 168101798 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:168101798C>T uc002udx.2 + 8 3914 c.3896C>T c.(3895-3897)ACA>ATA p.T1299I XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T1124I|XIRP2_uc010fpq.2_Missense_Mutation_p.T1077I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1124 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACCAAGAAAACAATTACTGAA 0.378 15 59 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168102608 168102608 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:168102608G>T uc002udx.2 + 8 4724 c.4706G>T c.(4705-4707)GGA>GTA p.G1569V XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1394V|XIRP2_uc010fpq.2_Missense_Mutation_p.G1347V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1394 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAGGCTCCTGGAATCATCATT 0.353 6 48 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106535 168106535 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:168106535A>G uc002udx.2 + 8 8651 c.8633A>G c.(8632-8634)GAA>GGA p.E2878G XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2703G|XIRP2_uc010fpq.2_Missense_Mutation_p.E2656G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E224G NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2703 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAGACCGCTGAAAGTAAAGCT 0.388 8 106 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106537 168106537 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:168106537A>T uc002udx.2 + 8 8653 c.8635A>T c.(8635-8637)AGT>TGT p.S2879C XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2704C|XIRP2_uc010fpq.2_Missense_Mutation_p.S2657C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.S225C NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2704 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GACCGCTGAAAGTAAAGCTGA 0.388 8 104 --- --- --- --- PASS ABCB11 8647 broad.mit.edu 37 2 169814626 169814626 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:169814626G>T uc002ueo.1 - 19 2317 c.2191C>A c.(2191-2193)CCT>ACT p.P731T ABCB11_uc010zda.1_Missense_Mutation_p.P173T|ABCB11_uc010zdb.1_Missense_Mutation_p.P207T NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 731 Cytoplasmic (Potential). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TCCTGCACAGGAATGTCCTTG 0.383 28 33 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170062925 170062925 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:170062925G>A uc002ues.2 - 39 7518 c.7305C>T c.(7303-7305)TTC>TTT p.F2435F NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2435 LDL-receptor class B 25.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATTTTGTGTGAAGTAGATTC 0.433 6 42 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170062926 170062926 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:170062926A>T uc002ues.2 - 39 7517 c.7304T>A c.(7303-7305)TTC>TAC p.F2435Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2435 LDL-receptor class B 25.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATTTTGTGTGAAGTAGATTCT 0.433 6 43 --- --- --- --- PASS GAD1 2571 broad.mit.edu 37 2 171709293 171709293 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:171709293C>A uc002ugi.2 + 13 1676 c.1254C>A c.(1252-1254)GTC>GTA p.V418V GAD1_uc010fqc.2_Silent_p.V37V NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 418 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCATTCTCGTCAAGGAAAAGG 0.507 21 37 --- --- --- --- PASS SLC25A12 8604 broad.mit.edu 37 2 172712451 172712451 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:172712451G>C uc002uhh.2 - 4 307 c.218C>G c.(217-219)TCC>TGC p.S73C SLC25A12_uc010fqh.2_Intron|SLC25A12_uc010zdv.1_RNA NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 73 1.|EF-hand 1. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CTCTTGATAGGAGATCAACCT 0.259 26 107 --- --- --- --- PASS CHN1 1123 broad.mit.edu 37 2 175665003 175665003 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:175665003G>T uc002uji.2 - 13 1751 c.1221C>A c.(1219-1221)CAC>CAA p.H407Q CHN1_uc010zeq.1_Missense_Mutation_p.H381Q|CHN1_uc002ujj.2_Missense_Mutation_p.H182Q|CHN1_uc002ujg.2_Missense_Mutation_p.H282Q NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 407 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) TCTCCTTTTCGTGGAGGGTCA 0.403 T TAF15 extraskeletal myxoid chondrosarcoma 5 122 --- --- --- --- PASS HOXD10 3236 broad.mit.edu 37 2 176982280 176982280 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:176982280C>A uc002ukj.2 + 1 789 c.719C>A c.(718-720)CCC>CAC p.P240H NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 240 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GTGTCCAGTCCCGAAGTGCAG 0.672 7 31 --- --- --- --- PASS HOXD3 3232 broad.mit.edu 37 2 177034272 177034272 + Nonsense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:177034272A>T uc002ukt.1 + 2 606 c.430A>T c.(430-432)AAA>TAA p.K144* NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 144 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) CAAGAAGCCCAAAGGTGGGCC 0.418 30 63 --- --- --- --- PASS MTX2 10651 broad.mit.edu 37 2 177202252 177202252 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:177202252C>T uc002ukx.2 + 10 887 c.652C>T c.(652-654)CAT>TAT p.H218Y MTX2_uc002ukw.2_Missense_Mutation_p.H208Y NM_006554 NP_006545 O75431 MTX2_HUMAN metaxin 2 218 protein targeting to mitochondrion mitochondrial outer membrane ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) GGTATTTGGCCATCTATACAC 0.343 34 93 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179412919 179412919 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179412919A>T uc010zfg.1 - 288 85954 c.85730T>A c.(85729-85731)ATC>AAC p.I28577N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I22272N|TTN_uc010zfi.1_Missense_Mutation_p.I22205N|TTN_uc010zfj.1_Missense_Mutation_p.I22080N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29504 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) GTAGCCAGTGATCCGGCTGCC 0.493 38 124 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179443892 179443892 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179443892G>T uc010zfg.1 - 269 60385 c.60161C>A c.(60160-60162)ACA>AAA p.T20054K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13749K|TTN_uc010zfi.1_Missense_Mutation_p.T13682K|TTN_uc010zfj.1_Missense_Mutation_p.T13557K|uc002umv.1_Missense_Mutation_p.V40L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20981 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) AAGTGTGATTGTGTATTTTCC 0.428 37 82 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179452854 179452854 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179452854C>A uc010zfg.1 - 254 55800 c.55576G>T c.(55576-55578)GCA>TCA p.A18526S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A12221S|TTN_uc010zfi.1_Missense_Mutation_p.A12154S|TTN_uc010zfj.1_Missense_Mutation_p.A12029S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19453 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) ATGATCGGTGCACCACCATCA 0.468 15 32 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179455492 179455492 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179455492G>T uc010zfg.1 - 253 53480 c.53256C>A c.(53254-53256)GTC>GTA p.V17752V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V11447V|TTN_uc010zfi.1_Silent_p.V11380V|TTN_uc010zfj.1_Silent_p.V11255V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18679 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) GTGTTTTGTTGACCCTCACCC 0.438 28 89 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179460333 179460333 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179460333G>A uc010zfg.1 - 244 50268 c.50044C>T c.(50044-50046)CAA>TAA p.Q16682* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.Q10377*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q10310*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q10185* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17609 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) GCTTTTCCTTGAATGAGACCC 0.443 7 9 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179475959 179475959 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179475959A>T uc010zfg.1 - 219 43417 c.43193T>A c.(43192-43194)GTT>GAT p.V14398D uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V8093D|TTN_uc010zfi.1_Missense_Mutation_p.V8026D|TTN_uc010zfj.1_Missense_Mutation_p.V7901D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15325 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) ACCTTCAATAACAATAATGTC 0.373 14 36 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179482066 179482066 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179482066C>T uc010zfg.1 - 203 40266 c.40042G>A c.(40042-40044)GAA>AAA p.E13348K TTN_uc010zfh.1_Missense_Mutation_p.E7043K|TTN_uc010zfi.1_Missense_Mutation_p.E6976K|TTN_uc010zfj.1_Missense_Mutation_p.E6851K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14275 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) TAAGTCAGTTCAGGGACAAGT 0.333 4 8 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179575619 179575619 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179575619C>A uc010zfg.1 - 95 24697 c.24473G>T c.(24472-24474)CGT>CTT p.R8158L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4819L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9085 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) AGGGGCAAGACGGATGTCAAA 0.493 31 67 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179595510 179595510 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179595510A>T uc010zfg.1 - 58 14242 c.14018T>A c.(14017-14019)ATA>AAA p.I4673K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I1334K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5600 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) TGAAGGAGGTATGATAAGATC 0.318 4 85 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179610930 179610930 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:179610930G>C uc002unb.2 - 46 16421 c.16197C>G c.(16195-16197)TTC>TTG p.F5399L TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTGAACATTTGAATACAGCAT 0.328 34 38 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185803014 185803014 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:185803014C>A uc002uph.2 + 4 3485 c.2891C>A c.(2890-2892)TCA>TAA p.S964* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 964 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TTTAGACAGTCACAGCCTAAA 0.388 20 63 --- --- --- --- PASS WDR75 84128 broad.mit.edu 37 2 190331241 190331241 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:190331241C>G uc002uql.1 + 13 1440 c.1380C>G c.(1378-1380)ACC>ACG p.T460T WDR75_uc002uqm.1_Silent_p.T396T|WDR75_uc002uqn.1_Silent_p.T238T|WDR75_uc002uqo.1_Silent_p.T238T NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 460 WD 7. nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) AACAGCCCACCTTGGTTACAG 0.353 20 57 --- --- --- --- PASS MSTN 2660 broad.mit.edu 37 2 190924989 190924989 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:190924989G>A uc002urp.2 - 2 679 c.546C>T c.(544-546)GAC>GAT p.D182D NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 182 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) ACCTTGTACCGTCTTTCATAG 0.428 17 93 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209190082 209190082 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:209190082G>C uc002vcz.2 + 20 2705 c.2547G>C c.(2545-2547)CTG>CTC p.L849L PIKFYVE_uc010fun.1_Silent_p.L530L|PIKFYVE_uc002vcy.1_Silent_p.L793L NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 849 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 ATTATGAGCTGGCTCGAGTTA 0.393 22 17 --- --- --- --- PASS TTLL4 9654 broad.mit.edu 37 2 219602602 219602602 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:219602602G>T uc002viy.2 + 3 573 c.203G>T c.(202-204)GGC>GTC p.G68V TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Missense_Mutation_p.G68V NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 68 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GCAGGGTTGGGCCCAGGCCTC 0.577 37 31 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220354143 220354143 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:220354143C>A uc010fwg.2 + 36 8403 c.8403C>A c.(8401-8403)ACC>ACA p.T2801T NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2801 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACTCTCCTACCTCACTGGCCC 0.642 9 18 --- --- --- --- PASS EFHD1 80303 broad.mit.edu 37 2 233527618 233527618 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:233527618G>T uc002vtc.2 + 2 617 c.409G>T c.(409-411)GAG>TAG p.E137* EFHD1_uc010fyf.2_Nonsense_Mutation_p.E41*|EFHD1_uc002vtd.2_Nonsense_Mutation_p.E25* NM_025202 NP_079478 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 137 EF-hand 2. calcium ion binding|protein binding 0 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) CATGATCAAGGAGGTGGATGA 0.632 15 21 --- --- --- --- PASS INPP5D 3635 broad.mit.edu 37 2 233986827 233986827 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:233986827G>T uc010zmo.1 + 3 362 c.209G>T c.(208-210)GGC>GTC p.G70V INPP5D_uc010zmp.1_Missense_Mutation_p.G70V NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 70 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCATCCGAAGGCGTCTCCATG 0.522 34 40 --- --- --- --- PASS UGT1A7 54577 broad.mit.edu 37 2 234591121 234591121 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:234591121G>T uc002vut.2 + 1 538 c.538G>T c.(538-540)GGT>TGT p.G180C UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.G180C NM_019077 NP_061950 Q9HAW7 UD17_HUMAN UDP glycosyltransferase 1 family, polypeptide A7 180 drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) TCTTGAAGAAGGTGCACAGTG 0.483 73 66 --- --- --- --- PASS HDAC4 9759 broad.mit.edu 37 2 240016748 240016748 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:240016748C>T uc002vyk.3 - 17 3015 c.2223G>A c.(2221-2223)TCG>TCA p.S741S HDAC4_uc010fyz.1_Silent_p.S736S|HDAC4_uc010zoa.1_Silent_p.S741S|HDAC4_uc010fza.2_Silent_p.S746S|HDAC4_uc010fyy.2_Silent_p.S698S|HDAC4_uc010znz.1_Silent_p.S624S NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 741 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CGGAGGCGAGCGAGCCTGTGG 0.612 26 13 --- --- --- --- PASS KIF1A 547 broad.mit.edu 37 2 241658612 241658612 + Silent SNP C A A rs148176695 by1000genomes TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:241658612C>A uc002vzy.2 - 45 4868 c.4722G>T c.(4720-4722)CCG>CCT p.P1574P KIF1A_uc010fzk.2_Silent_p.P1675P|KIF1A_uc002vzw.2_Silent_p.P235P|KIF1A_uc002vzx.2_Silent_p.P301P NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1574 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGGAAACGATCGGGCTGAAGG 0.652 29 39 --- --- --- --- PASS HDLBP 3069 broad.mit.edu 37 2 242192394 242192394 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr2:242192394G>C uc002waz.2 - 11 1578 c.1350C>G c.(1348-1350)CTC>CTG p.L450L HDLBP_uc002wba.2_Silent_p.L450L|HDLBP_uc002wbb.2_Silent_p.L402L NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 450 KH 5. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TCTTCCCAATGAGGTGCCTGT 0.567 36 42 --- --- --- --- PASS IL5RA 3568 broad.mit.edu 37 3 3139615 3139615 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:3139615G>T uc011ask.1 - 8 1292 c.648C>A c.(646-648)AAC>AAA p.N216K IL5RA_uc010hbq.2_Missense_Mutation_p.N216K|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.N216K|IL5RA_uc011asl.1_Missense_Mutation_p.N216K|IL5RA_uc011asm.1_Missense_Mutation_p.N216K|IL5RA_uc010hbt.2_Missense_Mutation_p.N216K|IL5RA_uc011asn.1_Missense_Mutation_p.N216K|IL5RA_uc010hbu.2_Missense_Mutation_p.N216K NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 216 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TGCTGGAGCCGTTAACAAGCA 0.478 10 32 --- --- --- --- PASS BRPF1 7862 broad.mit.edu 37 3 9782562 9782562 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:9782562G>T uc003bse.2 + 4 2058 c.1659G>T c.(1657-1659)GGG>GGT p.G553G BRPF1_uc003bsf.2_Silent_p.G553G|BRPF1_uc003bsg.2_Silent_p.G553G|BRPF1_uc011ati.1_Silent_p.G553G NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 553 Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) CACGGAATGGGGTCCCATTGC 0.552 16 28 --- --- --- --- PASS SLC6A11 6538 broad.mit.edu 37 3 10861482 10861482 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:10861482C>A uc003bvz.2 + 3 511 c.477C>A c.(475-477)AGC>AGA p.S159R SLC6A11_uc003bvy.1_Missense_Mutation_p.S159R NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 159 Extracellular (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) TTTACCTGAGCAACTGCTTCA 0.527 14 36 --- --- --- --- PASS ATG7 10533 broad.mit.edu 37 3 11383696 11383696 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:11383696C>G uc003bwc.2 + 11 1185 c.1068C>G c.(1066-1068)GTC>GTG p.V356V ATG7_uc003bwd.2_Silent_p.V356V|ATG7_uc011aum.1_Silent_p.V317V NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 356 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 TTGTGTCTGTCAAATGTCTGC 0.473 36 57 --- --- --- --- PASS GALNTL2 117248 broad.mit.edu 37 3 16254180 16254180 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:16254180G>A uc003car.3 + 6 1777 c.1302G>A c.(1300-1302)CTG>CTA p.L434L GALNTL2_uc003caq.3_Silent_p.L167L NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 434 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 AGGCCACCCTGAGGAACAGGG 0.547 52 27 --- --- --- --- PASS NEK10 152110 broad.mit.edu 37 3 27244048 27244048 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:27244048G>A uc010hfk.2 - 3 256 c.27C>T c.(25-27)CCC>CCT p.P9P NEK10_uc003cds.1_Silent_p.C94C|NEK10_uc010hfj.2_Silent_p.P9P Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; Error:Variant_position_missing_in_Q6ZWH5_after_alignment ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GTACCTCGGGGCTGAAGTAAA 0.443 16 13 --- --- --- --- PASS STAC 6769 broad.mit.edu 37 3 36422172 36422172 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:36422172G>T uc003cgh.1 + 1 76 c.37G>T c.(37-39)GAC>TAC p.D13Y STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.D13Y NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 13 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 GGACGGCGTGGACGGGCTGCC 0.706 6 5 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38770299 38770299 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:38770299T>C uc003ciq.2 - 15 2374 c.2374A>G c.(2374-2376)ATC>GTC p.I792V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 792 Helical; Name=S5 of repeat II; (Potential).|II. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCAGGATGATGGTGAGGTTC 0.517 14 74 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38781048 38781048 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:38781048C>A uc003ciq.2 - 14 2238 c.2238G>T c.(2236-2238)GTG>GTT p.V746V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 746 Helical; Name=S3 of repeat II; (Potential).|II. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCTTCTTGGCCACGCCCAGCT 0.483 28 14 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38968411 38968411 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:38968411G>A uc011ays.1 - 4 699 c.500C>T c.(499-501)ACT>ATT p.T167I NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 167 Helical; Name=S2 of repeat I; (By similarity).|I. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATAAATCCCAGTGAAGACACA 0.363 20 43 --- --- --- --- PASS CX3CR1 1524 broad.mit.edu 37 3 39307072 39307072 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:39307072T>A uc003cjl.2 - 2 1021 c.929A>T c.(928-930)AAA>ATA p.K310I NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 310 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) AGCCAGGCATTTCCCATACAG 0.478 25 96 --- --- --- --- PASS ZNF621 285268 broad.mit.edu 37 3 40571728 40571728 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:40571728G>A uc003ckm.2 + 4 396 c.180G>A c.(178-180)CTG>CTA p.L60L ZNF621_uc003ckn.2_Silent_p.L60L|ZNF621_uc003cko.2_Silent_p.L25L|ZNF621_uc011aze.1_Silent_p.L52L NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) AACCTGCTCTGATCTCCCACC 0.522 23 30 --- --- --- --- PASS RTP3 83597 broad.mit.edu 37 3 46541960 46541960 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:46541960C>A uc003cps.1 + 2 338 c.270C>A c.(268-270)ACC>ACA p.T90T NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 90 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) GGGTGTTTACCCAGAGATGTA 0.512 23 109 --- --- --- --- PASS PTH1R 5745 broad.mit.edu 37 3 46945048 46945048 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:46945048G>A uc003cqm.2 + 16 1887 c.1684G>A c.(1684-1686)GGG>AGG p.G562R PTH1R_uc003cqn.2_Missense_Mutation_p.G562R NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 562 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 CAAGGACGATGGGTTCCTCAA 0.662 Ollier_disease_/_Maffuci_syndrome 11 27 --- --- --- --- PASS CCDC51 79714 broad.mit.edu 37 3 48473987 48473987 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:48473987G>T uc003csz.2 - 4 1188 c.1067C>A c.(1066-1068)GCT>GAT p.A356D PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.A247D|CCDC51_uc003ctb.2_Missense_Mutation_p.A247D|CCDC51_uc003ctc.2_Missense_Mutation_p.A356D|CCDC51_uc003ctd.2_Missense_Mutation_p.A247D NM_024661 NP_078937 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 356 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCTGGGCATAGCCCCGTCTGC 0.547 7 33 --- --- --- --- PASS PRICKLE2 166336 broad.mit.edu 37 3 64142967 64142967 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:64142967C>A uc003dmf.2 - 5 1057 c.471G>T c.(469-471)CCG>CCT p.P157P NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 157 LIM zinc-binding 1. cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CGAAGCACGGCGGGTGCCAGC 0.547 5 15 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64547256 64547256 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:64547256C>T uc003dmg.2 - 30 4728 c.4696G>A c.(4696-4698)GAA>AAA p.E1566K ADAMTS9_uc011bfo.1_Missense_Mutation_p.E1538K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E1395K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E477K|uc003dmi.1_5'Flank NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1566 TSP type-1 13. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTACTTACTTCTTGCCATTCC 0.567 23 42 --- --- --- --- PASS LRIG1 26018 broad.mit.edu 37 3 66502051 66502051 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:66502051G>C uc003dmx.2 - 3 311 c.297C>G c.(295-297)CTC>CTG p.L99L LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Silent_p.L99L NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 99 Extracellular (Potential).|LRR 2. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CATTATTATTGAGGTACCTGT 0.428 28 58 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 97356890 97356890 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:97356890G>C uc010how.1 + 14 2791 c.2748G>C c.(2746-2748)GTG>GTC p.V916V EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Silent_p.V308V|EPHA6_uc003drr.3_Silent_p.V308V|EPHA6_uc003drt.2_Silent_p.V308V|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 821 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TCTCCAGAGTGCTGGAAGATG 0.368 14 44 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983218 97983218 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:97983218C>T uc003dsi.1 + 1 90 c.90C>T c.(88-90)CTC>CTT p.L30L NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 30 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 AGTTTGTTCTCACAGGATTTT 0.398 38 119 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983944 97983944 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:97983944C>A uc003dsi.1 + 1 816 c.816C>A c.(814-816)ACC>ACA p.T272T NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 272 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 GCCCCCTCACCTTCAAATATC 0.408 17 50 --- --- --- --- PASS TMEM45A 55076 broad.mit.edu 37 3 100287758 100287758 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:100287758G>T uc003dtz.1 + 5 994 c.681G>T c.(679-681)TGG>TGT p.W227C TMEM45A_uc003dua.1_Missense_Mutation_p.W243C|TMEM45A_uc003dub.1_RNA NM_018004 NP_060474 Q9NWC5 TM45A_HUMAN transmembrane protein 45A 227 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 GCTTTTGTTGGCATTATGCAG 0.393 51 96 --- --- --- --- PASS RG9MTD1 54931 broad.mit.edu 37 3 101283908 101283908 + Nonsense_Mutation SNP A T T rs71684018 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:101283908A>T uc003duz.2 + 2 431 c.283A>T c.(283-285)AGA>TGA p.R95* NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 95 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 AGCTGCCACCAGAGAGTTCAT 0.418 23 66 --- --- --- --- PASS ALCAM 214 broad.mit.edu 37 3 105252517 105252517 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:105252517T>A uc003dvx.2 + 5 1070 c.530T>A c.(529-531)CTA>CAA p.L177Q ALCAM_uc003dvw.1_Missense_Mutation_p.L177Q|ALCAM_uc003dvy.2_Missense_Mutation_p.L177Q|ALCAM_uc011bhh.1_Missense_Mutation_p.L126Q|ALCAM_uc010hpp.2_5'UTR NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 177 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 GGAAAAGTGCTACATCCCCTT 0.423 20 57 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109047846 109047846 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:109047846C>A uc003dxq.3 - 6 824 c.769G>T c.(769-771)GTT>TTT p.V257F DPPA4_uc011bho.1_Missense_Mutation_p.G158V NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 257 nucleus protein binding upper_aerodigestive_tract(1) 1 TTTTCTGGAACCCAGGCTTGA 0.527 5 13 --- --- --- --- PASS SIDT1 54847 broad.mit.edu 37 3 113329854 113329854 + Splice_Site SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:113329854G>C uc003eak.2 + 18 2372 c.1721_splice c.e18-1 p.D574_splice SIDT1_uc011bif.1_Splice_Site|SIDT1_uc003eaj.1_Splice_Site_p.D574_splice|SIDT1_uc011big.1_Splice_Site_p.D327_splice|SIDT1_uc011bih.1_Splice_Site|SIDT1_uc011bii.1_Splice_Site_p.D27_splice NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor integral to membrane ovary(3)|pancreas(1)|skin(1) 5 TGGGTCCTCAGACACCTCCTT 0.502 31 65 --- --- --- --- PASS LSAMP 4045 broad.mit.edu 37 3 115571360 115571360 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:115571360C>T uc003ebt.2 - 4 1119 c.619G>A c.(619-621)GAT>AAT p.D207N LSAMP_uc011bis.1_Missense_Mutation_p.D207N NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 207 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TGTTTGACATCCGCCGAGGAG 0.527 5 37 --- --- --- --- PASS STXBP5L 9515 broad.mit.edu 37 3 120977893 120977893 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:120977893G>T uc003eec.3 + 18 1976 c.1836G>T c.(1834-1836)GTG>GTT p.V612V STXBP5L_uc011bji.1_Silent_p.V612V NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 612 WD 9. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) CTTAAAGTGTGAAGACACGGC 0.363 23 42 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121230774 121230774 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:121230774C>G uc003eee.3 - 10 1700 c.1571G>C c.(1570-1572)GGA>GCA p.G524A NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 524 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TACTTCTTCTCCTTCTCGTCT 0.383 DNA_polymerases_(catalytic_subunits) 13 66 --- --- --- --- PASS FBXO40 51725 broad.mit.edu 37 3 121340752 121340752 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:121340752C>A uc003eeg.2 + 3 686 c.476C>A c.(475-477)ACT>AAT p.T159N NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 159 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) GAGGAACCAACTATGAATGGT 0.507 8 25 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121445853 121445853 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:121445853T>C uc003eei.3 - 5 564 c.438A>G c.(436-438)ATA>ATG p.I146M GOLGB1_uc010hrc.2_Missense_Mutation_p.I146M|GOLGB1_uc003eej.3_Missense_Mutation_p.I107M|GOLGB1_uc011bjm.1_Missense_Mutation_p.I107M|GOLGB1_uc010hrd.1_Missense_Mutation_p.I146M NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 146 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTATCTTTTCTATTTCCATCT 0.378 14 36 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124114075 124114075 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:124114075C>A uc003ehg.2 + 12 2177 c.2050C>A c.(2050-2052)CAG>AAG p.Q684K KALRN_uc010hrv.1_Missense_Mutation_p.Q684K|KALRN_uc003ehf.1_Missense_Mutation_p.Q684K|KALRN_uc011bjy.1_Missense_Mutation_p.Q684K|KALRN_uc003ehh.1_Missense_Mutation_p.Q43K NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 684 Poly-Gln. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CAAGCAGTTCCAGCAGCAGCA 0.537 9 14 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124431863 124431863 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:124431863G>A uc003ehg.2 + 58 8284 c.8157G>A c.(8155-8157)ATG>ATA p.M2719I KALRN_uc003ehk.2_Missense_Mutation_p.M1022I NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2718 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GCAAAAAAATGAAGAAGAAAG 0.473 4 42 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126749203 126749203 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:126749203G>C uc003ejg.2 + 28 5114 c.5110G>C c.(5110-5112)GAC>CAC p.D1704H PLXNA1_uc003ejh.2_Missense_Mutation_p.D372H NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1727 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) TGAGCAGGCCGACAAGCACCA 0.622 22 60 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130188024 130188024 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:130188024G>A uc010htj.1 + 38 7670 c.7176G>A c.(7174-7176)TGG>TGA p.W2392* COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Nonsense_Mutation_p.W431* NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2392 VWFA 10.|Nonhelical region. axon guidance|cell adhesion collagen 0 CCTTGCAGTGGACAATTGACA 0.383 8 62 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132203456 132203456 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:132203456G>T uc003eor.2 + 29 3272 c.3207G>T c.(3205-3207)CGG>CGT p.R1069R NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1069 heat shock protein binding ovary(1)|breast(1) 2 CCATCATTCGGCCTCTACCCA 0.358 9 79 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098820 133098820 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:133098820G>C uc003eph.2 + 4 539 c.265G>C c.(265-267)GAG>CAG p.E89Q TMEM108_uc003epi.2_Missense_Mutation_p.E89Q|TMEM108_uc003epj.1_Missense_Mutation_p.E89Q|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.E40Q NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 89 Pro-rich.|Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 ACCCCGTGCAGAGGGGCACCC 0.627 13 59 --- --- --- --- PASS SRPRB 58477 broad.mit.edu 37 3 133526599 133526599 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:133526599G>T uc003epx.1 + 3 275 c.259G>T c.(259-261)GGC>TGC p.G87C NM_021203 NP_067026 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, beta 87 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity ovary(1) 1 GTTGTTAACAGGCCTTTATAG 0.368 17 39 --- --- --- --- PASS CEP63 80254 broad.mit.edu 37 3 134269059 134269059 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:134269059G>C uc003eqo.1 + 12 1786 c.1337G>C c.(1336-1338)AGA>ACA p.R446T CEP63_uc003eql.1_Missense_Mutation_p.R400T|CEP63_uc003eqm.2_Missense_Mutation_p.R400T|CEP63_uc003eqn.1_Missense_Mutation_p.R446T|CEP63_uc003eqp.1_Missense_Mutation_p.R75T NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 446 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 AAGCGACTCAGAGCAGAGATG 0.393 29 76 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138738743 138738743 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:138738743G>A uc003esy.1 - 1 1026 c.761C>T c.(760-762)CCT>CTT p.P254L NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 254 Pro-rich. breast(1) 1 CTTGCACGGAGGGCGTTCCGG 0.672 8 15 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140140019 140140019 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:140140019G>C uc003etn.2 + 5 880 c.690G>C c.(688-690)GAG>GAC p.E230D CLSTN2_uc003etm.2_Missense_Mutation_p.E230D NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 230 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 ACCAGTATGAGATCCTGGTGA 0.517 HNSCC(16;0.037) 17 99 --- --- --- --- PASS GRK7 131890 broad.mit.edu 37 3 141526697 141526697 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:141526697G>C uc011bnd.1 + 3 1345 c.1261G>C c.(1261-1263)GAG>CAG p.E421Q NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 421 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 TAACTTCACAGAGGAAGCAAA 0.428 11 41 --- --- --- --- PASS TRPC1 7220 broad.mit.edu 37 3 142455268 142455268 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:142455268G>C uc003evc.2 + 2 356 c.220G>C c.(220-222)GAC>CAC p.D74H TRPC1_uc003evb.2_Missense_Mutation_p.D74H NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 74 Cytoplasmic (Potential).|ANK 1. axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 CAGTTCAGGTGACTTGAACAT 0.333 19 50 --- --- --- --- PASS IGSF10 285313 broad.mit.edu 37 3 151171201 151171201 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:151171201C>T uc011bod.1 - 3 686 c.686G>A c.(685-687)TGG>TAG p.W229* NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 229 LRRCT. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTCAGACAACCACTTTAAATG 0.433 14 62 --- --- --- --- PASS GPR149 344758 broad.mit.edu 37 3 154147144 154147144 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:154147144G>T uc003faa.2 - 1 361 c.261C>A c.(259-261)ATC>ATA p.I87I NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 87 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AAAACATGAAGATGGTCACCG 0.488 14 87 --- --- --- --- PASS MLF1 4291 broad.mit.edu 37 3 158317862 158317862 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:158317862T>A uc003fcb.2 + 5 605 c.468T>A c.(466-468)ATT>ATA p.I156I MLF1_uc003fbz.2_Silent_p.I131I|MLF1_uc003fca.2_Silent_p.I131I|MLF1_uc003fbx.2_Silent_p.I146I|MLF1_uc003fcc.2_Silent_p.I187I|MLF1_uc003fby.2_Silent_p.I82I|MLF1_uc010hvx.2_Silent_p.I88I NM_022443 NP_071888 P58340 MLF1_HUMAN myeloid leukemia factor 1 isoform 1 156 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding 0 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) AAATGGCTATTGGTCATCATA 0.313 T NPM1 AML 21 56 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164712057 164712057 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:164712057G>T uc003fei.2 - 41 4891 c.4829C>A c.(4828-4830)CCC>CAC p.P1610H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1610 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATGCAAAAGGGGTCGGATAAC 0.318 HNSCC(35;0.089) 8 39 --- --- --- --- PASS ARPM1 84517 broad.mit.edu 37 3 169485440 169485440 + Nonsense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:169485440G>C uc003ffs.1 - 2 1274 c.899C>G c.(898-900)TCA>TGA p.S300* TERC_uc003ffr.1_5'Flank NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 300 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GAAAGAGGTTGATCCCCCGGC 0.463 30 133 --- --- --- --- PASS TBL1XR1 79718 broad.mit.edu 37 3 176769497 176769497 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:176769497A>G uc003fiw.3 - 5 482 c.222T>C c.(220-222)GAT>GAC p.D74D TBL1XR1_uc003fix.3_Silent_p.D74D|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Silent_p.D74D NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 74 F-box-like. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) TTGGTCGACCATCAAACAAGG 0.358 7 42 --- --- --- --- PASS GNB4 59345 broad.mit.edu 37 3 179131506 179131506 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:179131506G>A uc003fjv.3 - 7 774 c.494C>T c.(493-495)ACT>ATT p.T165I GNB4_uc003fju.3_Missense_Mutation_p.T76I NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 165 WD 3. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) AACTTACCAAGTTGTATCTCC 0.358 9 42 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180377513 180377513 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:180377513C>G uc010hxe.2 - 5 676 c.561G>C c.(559-561)CAG>CAC p.Q187H CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 187 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCTTTCTTTTCTGATTACATT 0.289 11 44 --- --- --- --- PASS FXR1 8087 broad.mit.edu 37 3 180685922 180685922 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:180685922G>A uc003fkq.2 + 14 1304 c.1282G>A c.(1282-1284)GAT>AAT p.D428N FXR1_uc003fkp.2_Missense_Mutation_p.D343N|FXR1_uc003fkr.2_Missense_Mutation_p.D428N|FXR1_uc011bqj.1_Missense_Mutation_p.D342N|FXR1_uc003fks.2_Missense_Mutation_p.D371N|FXR1_uc011bqk.1_Missense_Mutation_p.D379N|FXR1_uc011bql.1_Missense_Mutation_p.D415N NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 428 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GGCAGGAGAAGATGATCGAGA 0.527 7 53 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183907720 183907720 + Splice_Site SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:183907720G>A uc003fmz.2 + 14 1524 c.1391_splice c.e14+1 p.L464_splice ABCF3_uc003fna.2_Splice_Site_p.L458_splice|ABCF3_uc003fnb.2_Splice_Site_p.L145_splice NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGGAGAAGCTGTGAGTACAGC 0.547 13 37 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184040983 184040983 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:184040983G>A uc003fnp.2 + 14 2240 c.2042G>A c.(2041-2043)CGT>CAT p.R681H EIF4G1_uc003fno.1_Missense_Mutation_p.R622H|EIF4G1_uc010hxw.1_Missense_Mutation_p.R517H|EIF4G1_uc003fnt.2_Missense_Mutation_p.R392H|EIF4G1_uc003fnq.2_Missense_Mutation_p.R594H|EIF4G1_uc003fnr.2_Missense_Mutation_p.R517H|EIF4G1_uc010hxx.2_Missense_Mutation_p.R688H|EIF4G1_uc003fns.2_Missense_Mutation_p.R641H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R688H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R681H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R681H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R688H|EIF4G1_uc003fnx.2_Missense_Mutation_p.R485H|EIF4G1_uc003fny.3_Missense_Mutation_p.R485H|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 681 MIF4G. Cleavage; by enterovirus/rhinovirus protease 2A. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTTAGCACCCGTGGGCCCCCA 0.627 18 88 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184041675 184041675 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:184041675C>G uc003fnp.2 + 16 2580 c.2382C>G c.(2380-2382)CTC>CTG p.L794L EIF4G1_uc003fno.1_Silent_p.L735L|EIF4G1_uc010hxw.1_Silent_p.L630L|EIF4G1_uc003fnt.2_Silent_p.L505L|EIF4G1_uc003fnq.2_Silent_p.L707L|EIF4G1_uc003fnr.2_Silent_p.L630L|EIF4G1_uc010hxx.2_Silent_p.L801L|EIF4G1_uc003fns.2_Silent_p.L754L|EIF4G1_uc010hxy.2_Silent_p.L801L|EIF4G1_uc003fnv.3_Silent_p.L795L|EIF4G1_uc003fnu.3_Silent_p.L794L|EIF4G1_uc003fnw.2_Silent_p.L801L|EIF4G1_uc003fnx.2_Silent_p.L599L|EIF4G1_uc003fny.3_Silent_p.L598L|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 794 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGAACGCCTCAAAGGGGTCA 0.547 5 84 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184042714 184042714 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:184042714A>G uc003fnp.2 + 18 2866 c.2668A>G c.(2668-2670)ATA>GTA p.I890V EIF4G1_uc003fno.1_Missense_Mutation_p.I831V|EIF4G1_uc010hxw.1_Missense_Mutation_p.I726V|EIF4G1_uc003fnt.2_Missense_Mutation_p.I601V|EIF4G1_uc003fnq.2_Missense_Mutation_p.I803V|EIF4G1_uc003fnr.2_Missense_Mutation_p.I726V|EIF4G1_uc010hxx.2_Missense_Mutation_p.I897V|EIF4G1_uc003fns.2_Missense_Mutation_p.I850V|EIF4G1_uc010hxy.2_Missense_Mutation_p.I897V|EIF4G1_uc003fnv.3_Missense_Mutation_p.I891V|EIF4G1_uc003fnu.3_Missense_Mutation_p.I890V|EIF4G1_uc003fnw.2_Missense_Mutation_p.I897V|EIF4G1_uc003fnx.2_Missense_Mutation_p.I695V|EIF4G1_uc003fny.3_Missense_Mutation_p.I694V|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 890 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCTCGGGACATAGCCCGGCG 0.493 12 62 --- --- --- --- PASS EPHB3 2049 broad.mit.edu 37 3 184294689 184294689 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:184294689G>A uc003foz.2 + 5 1509 c.1072G>A c.(1072-1074)GAG>AAG p.E358K NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 358 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) ACTGATCCTCGAGTGGAGTGA 0.597 13 78 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186940980 186940980 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:186940980C>T uc003frh.1 - 14 2076 c.1744G>A c.(1744-1746)GCC>ACC p.A582T NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 582 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ATGACCATGGCTCCTGGAGGA 0.522 15 29 --- --- --- --- PASS SST 6750 broad.mit.edu 37 3 187386958 187386958 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:187386958C>T uc003frn.2 - 2 368 c.246G>A c.(244-246)ATG>ATA p.M82I NM_001048 NP_001039 P61278 SMS_HUMAN somatostatin preproprotein 82 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity pancreas(1) 1 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) GCTCAAGCCTCATTTCATCCT 0.522 75 201 --- --- --- --- PASS CPN2 1370 broad.mit.edu 37 3 194062502 194062502 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:194062502G>T uc003fts.2 - 2 1020 c.930C>A c.(928-930)GCC>GCA p.A310A NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 310 LRR 9. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGGACAGGTGGGCAAAGGTGC 0.592 11 33 --- --- --- --- PASS LSG1 55341 broad.mit.edu 37 3 194373677 194373677 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:194373677C>A uc003fui.2 - 8 1269 c.954G>T c.(952-954)TGG>TGT p.W318C NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 318 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) AGCACGTCTGCCAGTCGTCTT 0.527 25 66 --- --- --- --- PASS BDH1 622 broad.mit.edu 37 3 197239159 197239159 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:197239159G>T uc003fxr.2 - 8 1041 c.639C>A c.(637-639)TTC>TTA p.F213L BDH1_uc003fxs.2_Missense_Mutation_p.F213L|BDH1_uc003fxt.2_Missense_Mutation_p.F126L|BDH1_uc003fxu.2_Missense_Mutation_p.F213L NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 213 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) CCTCTACCCCGAACTTGGTGA 0.632 15 22 --- --- --- --- PASS LMLN 89782 broad.mit.edu 37 3 197707242 197707242 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr3:197707242G>T uc011buo.1 + 6 617 c.595G>T c.(595-597)GGT>TGT p.G199C LMLN_uc003fyt.2_Missense_Mutation_p.G147C|LMLN_uc010iar.2_Missense_Mutation_p.G199C|LMLN_uc010ias.2_Missense_Mutation_p.G147C|LMLN_uc003fyu.2_5'UTR NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 199 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TGGAGCAGTGGGTGTGCCAGA 0.527 27 71 --- --- --- --- PASS CTBP1 1487 broad.mit.edu 37 4 1207352 1207352 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:1207352C>A uc003gcv.1 - 7 1100 c.935G>T c.(934-936)TGC>TTC p.C312F uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.C293F|CTBP1_uc003gcu.1_Missense_Mutation_p.C301F|CTBP1_uc003gcw.2_5'UTR NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 312 Interaction with GLIS2 2 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) ATGGGGGGTGCAGATGAGGTT 0.642 14 19 --- --- --- --- PASS OTOP1 133060 broad.mit.edu 37 4 4199533 4199533 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:4199533C>A uc003ghp.1 - 5 1058 c.1028G>T c.(1027-1029)AGC>ATC p.S343I NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 343 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGCCGACTCGCTCTTGGTCTT 0.587 14 33 --- --- --- --- PASS KIAA0232 9778 broad.mit.edu 37 4 6862821 6862821 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:6862821G>C uc003gjr.3 + 7 1175 c.712G>C c.(712-714)GAA>CAA p.E238Q KIAA0232_uc003gjq.3_Missense_Mutation_p.E238Q NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 238 ATP binding ovary(2) 2 AAGAAGCAGTGAAGTACCCAC 0.438 26 88 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8609035 8609035 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:8609035C>A uc003glm.2 + 7 1236 c.1110C>A c.(1108-1110)ACC>ACA p.T370T CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.T233T|CPZ_uc003glo.2_Silent_p.T359T|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 370 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GGATGCAGACCATACCCTTTG 0.612 OREG0016100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 42 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13602546 13602546 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:13602546T>A uc003gmz.1 - 10 6095 c.5978A>T c.(5977-5979)AAA>ATA p.K1993I BOD1L_uc010idr.1_Missense_Mutation_p.K1330I NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1993 DNA binding ovary(5)|breast(1) 6 ATCTTCAACTTTTTCGAGCTG 0.478 8 64 --- --- --- --- PASS STIM2 57620 broad.mit.edu 37 4 27000893 27000893 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:27000893G>A uc003gsh.3 + 5 1026 c.810G>A c.(808-810)TTG>TTA p.L270L STIM2_uc003gsg.3_Silent_p.L270L|STIM2_uc010iex.2_Silent_p.L270L NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 183 SAM.|Extracellular (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) TCTCCCAGTTGAAAATCAGTG 0.343 21 24 --- --- --- --- PASS GNPDA2 132789 broad.mit.edu 37 4 44713028 44713028 + Nonsense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:44713028G>C uc003gwy.2 - 5 693 c.536C>G c.(535-537)TCA>TGA p.S179* GNPDA2_uc010iga.2_Nonsense_Mutation_p.S145*|GNPDA2_uc011bzb.1_Nonsense_Mutation_p.S109*|GNPDA2_uc003gwz.1_Nonsense_Mutation_p.S179* NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 179 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 TGGCACTTTTGATAAATCTCC 0.378 12 75 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46305529 46305529 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:46305529G>T uc003gxc.3 - 7 1477 c.804C>A c.(802-804)TCC>TCA p.S268S GABRA2_uc010igc.2_Silent_p.S268S|GABRA2_uc011bzc.1_Silent_p.S213S|GABRA2_uc003gxe.2_Silent_p.S268S NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 268 Helical; (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) ATGAAACTTGGGAGAGAATGA 0.318 36 57 --- --- --- --- PASS CNGA1 1259 broad.mit.edu 37 4 47939827 47939827 + Silent SNP C G G rs149504668 by1000genomes TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:47939827C>G uc003gxt.3 - 11 950 c.684G>C c.(682-684)CTG>CTC p.L228L uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.L297L NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 228 Cytoplasmic (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 CCTTTACCAGCAGTCCTTGTT 0.284 17 69 --- --- --- --- PASS TXK 7294 broad.mit.edu 37 4 48115301 48115301 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:48115301T>A uc003gxx.3 - 3 183 c.97A>T c.(97-99)AGC>TGC p.S33C TXK_uc003gxy.1_Missense_Mutation_p.S33C NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 33 cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TCATCTGTGCTCAGGCTTATC 0.378 14 73 --- --- --- --- PASS CHIC2 26511 broad.mit.edu 37 4 54930367 54930367 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:54930367C>A uc003haj.1 - 1 422 c.101G>T c.(100-102)GGC>GTC p.G34V PDGFRA_uc003haa.2_Intron NM_012110 NP_036242 Q9UKJ5 CHIC2_HUMAN cysteine-rich hydrophobic domain 2 34 plasma membrane protein binding central_nervous_system(1) 1 all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08) LUSC - Lung squamous cell carcinoma(32;0.00216) GTGACCGGAGCCGCGGACGAC 0.682 T ETV6 AML 5 5 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55156543 55156543 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:55156543G>T uc003han.3 + 22 3275 c.2944G>T c.(2944-2946)GTG>TTG p.V982L PDGFRA_uc003haa.2_Missense_Mutation_p.V742L NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 982 Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ACGCATGCGTGTGGACTCAGA 0.448 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 25 266 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55592146 55592146 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:55592146A>T uc010igr.2 + 9 1557 c.1470A>T c.(1468-1470)GAA>GAT p.E490D KIT_uc010igs.2_Missense_Mutation_p.E490D|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 490 Extracellular (Potential).|Ig-like C2-type 5. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.E490_F504>DHIVVSLTF(1) soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCACGGTTGAATGTAAGGCTT 0.398 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 178 48 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55599352 55599352 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:55599352A>C uc010igr.2 + 17 2565 c.2478A>C c.(2476-2478)AAA>AAC p.K826N KIT_uc010igs.2_Missense_Mutation_p.K822N NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 826 Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ATGTGGTTAAAGGAAACGTGA 0.368 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 23 368 --- --- --- --- PASS REST 5978 broad.mit.edu 37 4 57798239 57798239 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:57798239G>A uc003hch.2 + 4 3562 c.3215G>A c.(3214-3216)GGA>GAA p.G1072E REST_uc003hci.2_Missense_Mutation_p.G1072E|REST_uc010ihf.2_Missense_Mutation_p.G746E NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 1072 C2H2-type 9.|Interaction with RCOR1. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) TTCAGAAAGGGAAAAGATTAC 0.408 55 32 --- --- --- --- PASS UGT2B11 10720 broad.mit.edu 37 4 70066419 70066419 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:70066419C>A uc003heh.2 - 6 1338 c.1329G>T c.(1327-1329)ATG>ATT p.M443I uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 443 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 TTGATAATTTCATAATATTCT 0.358 35 46 --- --- --- --- PASS UGT2B28 54490 broad.mit.edu 37 4 70146511 70146511 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:70146511C>T uc003hej.2 + 1 295 c.293C>T c.(292-294)TCA>TTA p.S98L UGT2B28_uc010ihr.2_Missense_Mutation_p.S98L NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 98 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) AAGAGATGGTCAGACATTCAA 0.323 20 84 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73434420 73434420 + Silent SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:73434420A>T uc003hgk.1 - 1 97 c.60T>A c.(58-60)GCT>GCA p.A20A NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 20 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTTGTCCATCAGCTGAAGTCC 0.443 19 14 --- --- --- --- PASS ALB 213 broad.mit.edu 37 4 74275097 74275097 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:74275097C>T uc003hgs.3 + 5 581 c.508C>T c.(508-510)CAT>TAT p.H170Y ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.H170Y|ALB_uc010iii.2_Missense_Mutation_p.H55Y|ALB_uc003hgu.3_Missense_Mutation_p.H20Y|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.H60Y|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 170 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGCCAGAAGACATCCTTACTT 0.343 10 56 --- --- --- --- PASS G3BP2 9908 broad.mit.edu 37 4 76570810 76570810 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:76570810C>G uc003hir.2 - 12 1418 c.1253G>C c.(1252-1254)AGA>ACA p.R418T G3BP2_uc003his.2_Missense_Mutation_p.R418T|G3BP2_uc003hit.2_Missense_Mutation_p.R385T NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 418 cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ACCACCACCTCTGGTTTCTCG 0.458 36 25 --- --- --- --- PASS STBD1 8987 broad.mit.edu 37 4 77230773 77230773 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:77230773G>T uc003hka.2 + 2 943 c.697G>T c.(697-699)GAC>TAC p.D233Y STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Missense_Mutation_p.D84Y NM_003943 NP_003934 O95210 STBD1_HUMAN starch binding domain 1 233 Cytoplasmic (Potential). carbohydrate metabolic process|muscle contraction integral to plasma membrane|membrane fraction carbohydrate binding|catalytic activity|protein binding ovary(1) 1 Lung(101;0.196) CCAGGGAATGGACAATGGAAG 0.517 15 16 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79353585 79353585 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:79353585G>C uc003hlb.2 + 38 5484 c.5044G>C c.(5044-5046)GAC>CAC p.D1682H FRAS1_uc003hkw.2_Missense_Mutation_p.D1682H|FRAS1_uc010ijj.1_Missense_Mutation_p.D102H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1681 CSPG 5.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TACCCGGGAAGACAGCATGGA 0.478 12 7 --- --- --- --- PASS MEPE 56955 broad.mit.edu 37 4 88766732 88766732 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:88766732G>T uc003hqy.2 + 4 751 c.712G>T c.(712-714)GGC>TGC p.G238C MEPE_uc010ikn.2_Missense_Mutation_p.G125C NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 238 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) TGATTTTGAAGGCAGCGGTTA 0.413 21 36 --- --- --- --- PASS PKD2 5311 broad.mit.edu 37 4 88989210 88989210 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:88989210A>C uc003hre.2 + 13 2585 c.2519A>C c.(2518-2520)CAA>CCA p.Q840P PKD2_uc011cdf.1_Missense_Mutation_p.Q258P|PKD2_uc011cdg.1_Missense_Mutation_p.Q166P|PKD2_uc011cdh.1_Missense_Mutation_p.Q63P NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 840 Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GAAGAGTTTCAAGTGTAAGTA 0.458 28 38 --- --- --- --- PASS C4orf37 285555 broad.mit.edu 37 4 98893523 98893523 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:98893523G>A uc003htt.1 - 7 931 c.841C>T c.(841-843)CAG>TAG p.Q281* NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 281 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) CTTTTCTTCTGTTTCTTTGAG 0.353 34 26 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100515905 100515905 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:100515905G>C uc003hvc.3 + 8 1030 c.774G>C c.(772-774)CTG>CTC p.L258L MTTP_uc011cej.1_Silent_p.L285L NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 258 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AATTAGAGCTGAAGACAACCG 0.418 28 34 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104054854 104054854 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:104054854C>A uc003hxb.1 - 41 6808 c.6718G>T c.(6718-6720)GAG>TAG p.E2240* CENPE_uc003hxc.1_Nonsense_Mutation_p.E2119* NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2240 Kinetochore-binding domain.|Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AATTATACCTCAATATGTAGA 0.303 6 16 --- --- --- --- PASS ALPK1 80216 broad.mit.edu 37 4 113348773 113348773 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:113348773G>C uc003iap.3 + 9 1026 c.747G>C c.(745-747)ATG>ATC p.M249I ALPK1_uc003ian.3_Missense_Mutation_p.M249I|ALPK1_uc011cfx.1_Missense_Mutation_p.M171I|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.M77I NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 249 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTGTTTCCATGAGCAAGAACG 0.388 5 10 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114282011 114282011 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:114282011A>T uc003ibe.3 + 39 10814 c.10714A>T c.(10714-10716)AGG>TGG p.R3572W ANK2_uc003ibd.3_Missense_Mutation_p.R1478W|ANK2_uc003ibf.3_Missense_Mutation_p.R1487W|ANK2_uc011cgc.1_Missense_Mutation_p.R663W|ANK2_uc003ibg.3_Missense_Mutation_p.R471W|ANK2_uc003ibh.3_Missense_Mutation_p.R161W|ANK2_uc011cgd.1_Missense_Mutation_p.R874W NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3539 Death. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GATCGAGGAAAGGCTGGCTTA 0.463 5 2 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115891700 115891700 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:115891700C>A uc003ibu.2 - 4 1786 c.1107G>T c.(1105-1107)CGG>CGT p.R369R NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 369 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CATCCACAGACCGAAGTAAAA 0.393 11 26 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123207785 123207785 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:123207785C>A uc003ieh.2 + 51 9172 c.9127C>A c.(9127-9129)CCT>ACT p.P3043T KIAA1109_uc003iel.1_Missense_Mutation_p.P978T NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3043 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AACCATTCCTCCTTCTGCCAG 0.398 22 51 --- --- --- --- PASS ADAD1 132612 broad.mit.edu 37 4 123333783 123333783 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:123333783C>G uc003ieo.2 + 10 1300 c.1068C>G c.(1066-1068)CTC>CTG p.L356L ADAD1_uc003iep.2_Silent_p.L345L|ADAD1_uc003ieq.2_Silent_p.L338L NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 356 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 ATGAAGAACTCTGTCTCCACG 0.358 48 30 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125599908 125599908 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:125599908T>C uc003ifg.3 - 2 931 c.665A>G c.(664-666)CAT>CGT p.H222R ANKRD50_uc011cgo.1_Missense_Mutation_p.H43R|ANKRD50_uc010inw.2_Missense_Mutation_p.H222R NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 222 central_nervous_system(1) 1 AAAGAACTCATGGTGACCAGC 0.428 53 93 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126412468 126412468 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:126412468G>C uc003ifj.3 + 17 14491 c.14491G>C c.(14491-14493)GAT>CAT p.D4831H FAT4_uc011cgp.1_Missense_Mutation_p.D3072H|FAT4_uc003ifi.1_Missense_Mutation_p.D2308H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4831 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GAATCCAGCGGATGGCATTCC 0.488 9 43 --- --- --- --- PASS GAB1 2549 broad.mit.edu 37 4 144390295 144390295 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:144390295G>T uc003ije.2 + 10 2397 c.2038G>T c.(2038-2040)GGG>TGG p.G680W GAB1_uc003ijd.2_Missense_Mutation_p.G710W|GAB1_uc011chq.1_Missense_Mutation_p.G577W NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 680 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) CTGGACAGATGGGAGACAGTC 0.438 22 28 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155254549 155254549 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:155254549G>T uc003inw.2 - 9 1314 c.1314C>A c.(1312-1314)CCC>CCA p.P438P DCHS2_uc003inx.2_Silent_p.P937P NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 438 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CGTGATCCAGGGGCTTCCGGG 0.597 12 21 --- --- --- --- PASS PLRG1 5356 broad.mit.edu 37 4 155459240 155459240 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:155459240G>C uc003iny.2 - 13 1235 c.1172C>G c.(1171-1173)TCT>TGT p.S391C PLRG1_uc003inz.2_Missense_Mutation_p.S382C NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 391 WD 5. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) GTTATCTGGAGAACCAGATGC 0.303 4 23 --- --- --- --- PASS TLL1 7092 broad.mit.edu 37 4 167020663 167020663 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:167020663G>C uc003irh.1 + 20 3538 c.2891G>C c.(2890-2892)CGA>CCA p.R964P TLL1_uc011cjn.1_Missense_Mutation_p.R987P|TLL1_uc011cjo.1_Missense_Mutation_p.R788P NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 964 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GGGCTTGGTCGATTCTGTGGA 0.423 47 44 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169337864 169337864 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:169337864C>G uc003irq.3 - 20 2916 c.2695G>C c.(2695-2697)GCT>CCT p.A899P DDX60L_uc003irr.1_Missense_Mutation_p.A899P|DDX60L_uc003irs.1_Missense_Mutation_p.A594P NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 899 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TTTATGGTAGCTGAAAGAACC 0.358 18 41 --- --- --- --- PASS GALNTL6 442117 broad.mit.edu 37 4 173150831 173150831 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:173150831G>T uc003isv.2 + 3 899 c.163G>T c.(163-165)GGG>TGG p.G55W NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 55 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 CCTGGGAGATGGGCAATTCTA 0.398 15 18 --- --- --- --- PASS LOC285501 285501 broad.mit.edu 37 4 178897011 178897011 + RNA SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:178897011G>T uc010iru.2 + 5 c.680G>T NR_028342 Homo sapiens cDNA clone IMAGE:4828874. 0 all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236) all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884) CTGGGGCACGGGAAAGGGGTT 0.408 8 77 --- --- --- --- PASS ING2 3622 broad.mit.edu 37 4 184431872 184431872 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:184431872G>C uc003ivs.1 + 2 739 c.610G>C c.(610-612)GAG>CAG p.E204Q ING2_uc011ckk.1_Missense_Mutation_p.E164Q NM_001564 NP_001555 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 204 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding ovary(1) 1 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TTCACCTGTTGAGTTTGCAAT 0.418 18 11 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187549470 187549470 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:187549470C>T uc003izf.2 - 9 4836 c.4648G>A c.(4648-4650)GTC>ATC p.V1550I NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1550 Extracellular (Potential).|Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTGACATTGACCACAATCCTT 0.468 HNSCC(5;0.00058) 11 13 --- --- --- --- PASS ZFP42 132625 broad.mit.edu 37 4 188924664 188924664 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr4:188924664C>A uc003izg.1 + 3 948 c.703C>A c.(703-705)CAT>AAT p.H235N ZFP42_uc003izh.1_Missense_Mutation_p.H235N|ZFP42_uc003izi.1_Missense_Mutation_p.H235N NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 235 C2H2-type 2. female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) ACTAAAGAGACATTTCCTGGT 0.507 5 44 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5182170 5182170 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:5182170G>T uc003jdl.2 + 4 653 c.515G>T c.(514-516)CGA>CTA p.R172L ADAMTS16_uc003jdk.1_Missense_Mutation_p.R172L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R172L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 172 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GGCATGATACGAACAGAAGAG 0.463 52 105 --- --- --- --- PASS SRD5A1 6715 broad.mit.edu 37 5 6651984 6651984 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:6651984G>C uc003jdw.2 + 2 513 c.323G>C c.(322-324)GGA>GCA p.G108A SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Intron NM_001047 NP_001038 P18405 S5A1_HUMAN steroid-5-alpha-reductase 1 108 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity 0 Dutasteride(DB01126)|Finasteride(DB01216) CTGATGCGAGGAGGAAAGCCT 0.373 31 71 --- --- --- --- PASS SRD5A1 6715 broad.mit.edu 37 5 6668313 6668313 + Splice_Site SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:6668313A>T uc003jdw.2 + 5 904 c.714_splice c.e5-2 p.E238_splice SRD5A1_uc011cml.1_Splice_Site|SRD5A1_uc011cmm.1_Splice_Site_p.E191_splice NM_001047 NP_001038 P18405 S5A1_HUMAN steroid-5-alpha-reductase 1 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity 0 Dutasteride(DB01126)|Finasteride(DB01216) TTTTTTTCTTAGGTGGTACCT 0.279 20 45 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7709423 7709423 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:7709423T>A uc003jdz.1 + 10 1568 c.1501T>A c.(1501-1503)TGG>AGG p.W501R ADCY2_uc011cmo.1_Missense_Mutation_p.W321R NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 501 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CTTGGAGTCCTGGGGGGCAGC 0.607 13 25 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7826896 7826896 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:7826896T>A uc003jdz.1 + 25 3255 c.3188T>A c.(3187-3189)ATC>AAC p.I1063N ADCY2_uc011cmo.1_Missense_Mutation_p.I883N|ADCY2_uc010itm.1_Missense_Mutation_p.I259N NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 1063 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CGAGGAATAATCAACGTGAAA 0.522 36 100 --- --- --- --- PASS TAS2R1 50834 broad.mit.edu 37 5 9629796 9629796 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:9629796A>T uc003jem.1 - 1 668 c.349T>A c.(349-351)TGG>AGG p.W117R NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 117 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 ATCTTCAACCAGATGAAGAGT 0.438 15 30 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16689976 16689976 + Missense_Mutation SNP C A A rs145872653 by1000genomes TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:16689976C>A uc003jft.3 - 28 4321 c.3853G>T c.(3853-3855)GAT>TAT p.D1285Y MYO10_uc011cnc.1_Missense_Mutation_p.D164Y|MYO10_uc011cnd.1_Missense_Mutation_p.D642Y|MYO10_uc011cne.1_Missense_Mutation_p.D642Y|MYO10_uc010itx.2_Missense_Mutation_p.D908Y NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1285 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 AAAGTCCTATCGGCCATAATG 0.483 33 71 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21975227 21975227 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:21975227C>A uc010iuc.2 - 3 957 c.499G>T c.(499-501)GCT>TCT p.A167S CDH12_uc011cno.1_Missense_Mutation_p.A167S|CDH12_uc003jgk.2_Missense_Mutation_p.A167S NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 167 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GGAACAGTAGCAACATAAGGT 0.398 HNSCC(59;0.17) 38 95 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35867468 35867468 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:35867468C>T uc003jjs.2 + 3 371 c.282C>T c.(280-282)ATC>ATT p.I94I IL7R_uc011coo.1_Silent_p.I94I|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 94 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TATATTTCATCGAGACAAAGA 0.388 31 68 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 37000524 37000524 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:37000524A>G uc003jkl.3 + 12 3853 c.3354A>G c.(3352-3354)GAA>GAG p.E1118E NIPBL_uc003jkk.3_Silent_p.E1118E NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1118 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGGAATATGAAGAGCGTGACA 0.418 65 16 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41057273 41057273 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:41057273C>T uc003jmj.3 - 9 1347 c.857G>A c.(856-858)AGA>AAA p.R286K HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 286 HEAT 3. binding ovary(6)|central_nervous_system(2) 8 CTCTGGAGCTCTGCAGATCTG 0.413 31 17 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45303823 45303823 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:45303823C>A uc003jok.2 - 6 1521 c.1496G>T c.(1495-1497)GGA>GTA p.G499V NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 499 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GATATAATCTCCAGGTTGAAA 0.408 40 69 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45303824 45303824 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:45303824C>G uc003jok.2 - 6 1520 c.1495G>C c.(1495-1497)GGA>CGA p.G499R NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 499 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ATATAATCTCCAGGTTGAAAC 0.408 41 70 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45462083 45462083 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:45462083G>A uc003jok.2 - 3 901 c.876C>T c.(874-876)GCC>GCT p.A292A NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 292 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CCACTGCACTGGCGAGATCAT 0.388 15 40 --- --- --- --- PASS FST 10468 broad.mit.edu 37 5 52780903 52780903 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:52780903G>T uc003jpd.2 + 5 825 c.798G>T c.(796-798)CGG>CGT p.R266R FST_uc003jpc.2_Silent_p.R266R NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 266 Kazal-like 3.|Follistatin-like 3. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) GGAGAGGCCGGTGTTCCCTCT 0.488 24 36 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70837292 70837292 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:70837292A>T uc003kbp.1 + 29 6297 c.6034A>T c.(6034-6036)ATA>TTA p.I2012L BDP1_uc003kbo.2_Missense_Mutation_p.I2012L|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2012 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGGAGTATGTATAATTCCTCA 0.279 9 37 --- --- --- --- PASS MAP1B 4131 broad.mit.edu 37 5 71493547 71493547 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:71493547A>T uc003kbw.3 + 5 4606 c.4365A>T c.(4363-4365)CAA>CAT p.Q1455H MAP1B_uc010iyw.1_Missense_Mutation_p.Q1472H|MAP1B_uc010iyx.1_Missense_Mutation_p.Q1329H|MAP1B_uc010iyy.1_Missense_Mutation_p.Q1329H NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1455 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GTCTTTACCAAGACAAACAGG 0.418 19 31 --- --- --- --- PASS ZNF366 167465 broad.mit.edu 37 5 71756484 71756484 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:71756484C>T uc003kce.1 - 2 1026 c.840G>A c.(838-840)CCG>CCA p.P280P NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGCACGCGTGCGGCTTGATCC 0.642 13 59 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79026607 79026607 + Silent SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:79026607A>C uc003kgc.2 + 2 2091 c.2019A>C c.(2017-2019)ACA>ACC p.T673T NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 673 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAACAGTTACACCAGAATACA 0.483 5 24 --- --- --- --- PASS CKMT2 1160 broad.mit.edu 37 5 80559433 80559433 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:80559433G>T uc003khc.3 + 10 1380 c.1138G>T c.(1138-1140)GAG>TAG p.E380* RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Nonsense_Mutation_p.E380*|CKMT2_uc003khd.3_Nonsense_Mutation_p.E380*|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron NM_001825 NP_001816 P17540 KCRS_HUMAN sarcomeric mitochondrial creatine kinase 380 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) TGGTCGATCAGAGGTAACGTC 0.453 4 59 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89924618 89924618 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:89924618G>A uc003kju.2 + 8 1574 c.1478G>A c.(1477-1479)CGA>CAA p.R493Q GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 493 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CATACAATACGAGGAGGTGCA 0.428 23 19 --- --- --- --- PASS MCTP1 79772 broad.mit.edu 37 5 94050558 94050558 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:94050558A>G uc003kkx.2 - 20 2644 c.2644T>C c.(2644-2646)TAT>CAT p.Y882H MCTP1_uc003kkv.2_Missense_Mutation_p.Y661H|MCTP1_uc003kkw.2_Missense_Mutation_p.Y575H|MCTP1_uc003kku.2_Missense_Mutation_p.Y398H NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 882 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TGGATGGCATAGATTTTATTT 0.378 18 83 --- --- --- --- PASS PAM 5066 broad.mit.edu 37 5 102363902 102363902 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:102363902A>T uc003knw.2 + 24 3076 c.2703A>T c.(2701-2703)AAA>AAT p.K901N PAM_uc003kns.2_Missense_Mutation_p.K794N|PAM_uc003knt.2_Missense_Mutation_p.K902N|PAM_uc003knu.2_Missense_Mutation_p.K833N|PAM_uc003knv.2_Intron|PAM_uc011cuz.1_Missense_Mutation_p.K803N|PAM_uc003knz.2_Intron NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 901 Cytoplasmic (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CTGAACACAAACTCGAGACGA 0.398 27 25 --- --- --- --- PASS TNFAIP8 25816 broad.mit.edu 37 5 118728655 118728655 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:118728655G>T uc003ksh.2 + 3 864 c.176G>T c.(175-177)AGG>ATG p.R59M TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.2_Missense_Mutation_p.R49M|TNFAIP8_uc011cwf.1_Missense_Mutation_p.R53M|TNFAIP8_uc003ksi.2_Missense_Mutation_p.R59M NM_014350 NP_055165 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 59 Potential. 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) AGAGTGACCAGGGAGTACACC 0.433 21 12 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127681162 127681162 + Missense_Mutation SNP G T T rs145565243 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:127681162G>T uc003kuu.2 - 24 3543 c.3104C>A c.(3103-3105)ACC>AAC p.T1035N FBN2_uc003kuv.2_Missense_Mutation_p.T1002N NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1035 TB 5. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTCACACTCGGTGCCCCAAGC 0.602 15 13 --- --- --- --- PASS SHROOM1 134549 broad.mit.edu 37 5 132158542 132158542 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:132158542C>A uc003kxx.2 - 10 3310 c.2505G>T c.(2503-2505)CGG>CGT p.R835R SHROOM1_uc003kxy.1_Silent_p.R830R NM_133456 NP_597713 Q2M3G4 SHRM1_HUMAN shroom family member 1 835 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding pancreas(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCCCTGGGGGCCGCGCCGGGC 0.647 3 3 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140215673 140215673 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:140215673C>T uc003lhq.2 + 1 1705 c.1705C>T c.(1705-1707)CGG>TGG p.R569W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R569W NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 569 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGCGCCTCGGGTGGGTGG 0.692 37 41 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140552867 140552867 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:140552867G>T uc003lit.2 + 1 625 c.451G>T c.(451-453)GCA>TCA p.A151S NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 151 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) TCCAGGGGCGGCATTTCTCCT 0.448 28 22 --- --- --- --- PASS PCDHGB1 56104 broad.mit.edu 37 5 140731747 140731747 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:140731747C>A uc003ljo.1 + 1 1920 c.1920C>A c.(1918-1920)GTC>GTA p.V640V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.V640V NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 640 Extracellular (Potential).|Cadherin 6. 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) GCCTGCTGGTCGCTGTGCGTG 0.692 12 13 --- --- --- --- PASS PCDH1 5097 broad.mit.edu 37 5 141236853 141236853 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:141236853C>G uc003llp.2 - 4 3400 c.3283G>C c.(3283-3285)GAT>CAT p.D1095H NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) ATGCTGCCATCAGGGGTGGTG 0.622 12 10 --- --- --- --- PASS ABLIM3 22885 broad.mit.edu 37 5 148627474 148627474 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:148627474G>C uc003lpy.2 + 18 1932 c.1681G>C c.(1681-1683)GAG>CAG p.E561Q ABLIM3_uc003lpz.1_Missense_Mutation_p.E561Q|ABLIM3_uc003lqa.1_Missense_Mutation_p.E458Q|ABLIM3_uc003lqb.2_Missense_Mutation_p.E450Q|ABLIM3_uc003lqc.1_Missense_Mutation_p.E528Q|ABLIM3_uc003lqd.1_Missense_Mutation_p.E466Q|ABLIM3_uc003lqf.2_Missense_Mutation_p.E450Q|ABLIM3_uc003lqe.1_Missense_Mutation_p.E450Q NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 561 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGGCTATGAGATGTCCCT 0.602 14 11 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158204441 158204441 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:158204441G>T uc010jip.2 - 10 1318 c.1016C>A c.(1015-1017)CCA>CAA p.P339Q EBF1_uc011ddw.1_Missense_Mutation_p.P207Q|EBF1_uc011ddx.1_Missense_Mutation_p.P340Q|EBF1_uc003lxl.3_Missense_Mutation_p.P308Q NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 339 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAATCTGCCTGGTGTTCCTTT 0.498 T HMGA2 lipoma 4 72 --- --- --- --- PASS GABRA6 2559 broad.mit.edu 37 5 161116112 161116112 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:161116112A>G uc003lyu.2 + 4 721 c.383A>G c.(382-384)AAC>AGC p.N128S GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 128 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTGCTCACAACATGACAACT 0.403 TCGA Ovarian(5;0.080) 16 14 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161324409 161324409 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:161324409C>T uc010jiw.2 + 11 1820 c.1352C>T c.(1351-1353)GCC>GTC p.A451V GABRA1_uc010jix.2_Missense_Mutation_p.A451V|GABRA1_uc010jiy.2_Missense_Mutation_p.A451V|GABRA1_uc003lyx.3_Missense_Mutation_p.A451V|GABRA1_uc010jiz.2_Missense_Mutation_p.A451V|GABRA1_uc010jja.2_Missense_Mutation_p.A451V|GABRA1_uc010jjb.2_Missense_Mutation_p.A451V NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 451 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CAGCTAAAAGCCCCCACACCA 0.413 38 56 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167643784 167643784 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:167643784G>A uc010jjd.2 + 22 4063 c.4063G>A c.(4063-4065)GAC>AAC p.D1355N ODZ2_uc003lzr.3_Missense_Mutation_p.D1125N|ODZ2_uc003lzt.3_Missense_Mutation_p.D728N|ODZ2_uc010jje.2_Missense_Mutation_p.D619N NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TATTGCAGTAGACAAGAATGG 0.517 5 49 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168216618 168216618 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:168216618C>T uc003mab.2 - 11 1446 c.1026G>A c.(1024-1026)CAG>CAA p.Q342Q SLIT3_uc010jjg.2_Silent_p.Q342Q|SLIT3_uc010jji.2_Silent_p.Q342Q|SLIT3_uc003mac.1_Silent_p.Q139Q NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 342 LRR 8. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TATCCGATATCTGATTCTTGC 0.517 8 14 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169116285 169116285 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:169116285G>T uc003maf.2 + 9 871 c.791G>T c.(790-792)CGG>CTG p.R264L DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 264 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) TGGGGCAGCCGGGGCTTCCCT 0.478 20 14 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169506093 169506093 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:169506093G>C uc003maf.2 + 49 5189 c.5109G>C c.(5107-5109)AAG>AAC p.K1703N DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.K1195N|DOCK2_uc003mah.2_Missense_Mutation_p.K259N NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1703 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) AGAGGACAAAGAGAAGCAGCG 0.587 17 35 --- --- --- --- PASS BTNL3 10917 broad.mit.edu 37 5 180419834 180419834 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:180419834C>A uc003mmr.2 + 2 199 c.71C>A c.(70-72)CCG>CAG p.P24Q NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 24 Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GTCACTGGACCGGGCAAGTTT 0.552 11 15 --- --- --- --- PASS TRIM7 81786 broad.mit.edu 37 5 180622557 180622557 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:180622557G>T uc003mmz.1 - 7 1212 c.1145C>A c.(1144-1146)ACC>AAC p.T382N TRIM7_uc003mmv.1_Missense_Mutation_p.T200N|TRIM7_uc003mmw.1_Missense_Mutation_p.T174N|TRIM7_uc003mmx.1_Missense_Mutation_p.T174N|TRIM7_uc003mmy.1_Missense_Mutation_p.T174N NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 382 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) GCGGGTGTTGGTGTCGAAGCG 0.701 6 11 --- --- --- --- PASS F13A1 2162 broad.mit.edu 37 6 6182372 6182372 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:6182372G>T uc003mwv.2 - 11 1431 c.1308C>A c.(1306-1308)GTC>GTA p.V436V F13A1_uc011dib.1_Silent_p.V373V NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 436 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGTCGCTGTTGACCTGGAAAC 0.448 8 14 --- --- --- --- PASS RREB1 6239 broad.mit.edu 37 6 7232080 7232080 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:7232080C>T uc003mxc.2 + 10 4138 c.3748C>T c.(3748-3750)CAC>TAC p.H1250Y RREB1_uc003mxb.2_Missense_Mutation_p.H1250Y|RREB1_uc010jnx.2_Missense_Mutation_p.H1250Y NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1250 C2H2-type 12. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CACCTGTCCCCACTGTCCCCG 0.607 10 15 --- --- --- --- PASS TMEM14C 51522 broad.mit.edu 37 6 10725208 10725208 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:10725208G>A uc003mzh.2 + 3 216 c.35G>A c.(34-36)TGG>TAG p.W12* TMEM14C_uc010joq.1_Nonsense_Mutation_p.W12*|TMEM14C_uc003mzi.2_Nonsense_Mutation_p.W12* NM_016462 NP_057546 Q9P0S9 TM14C_HUMAN transmembrane protein 14C 12 Helical; (Potential). heme biosynthetic process integral to membrane|mitochondrial membrane 0 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) Epithelial(50;0.246) CCTTTGCATTGGTTTGGCTTT 0.433 43 70 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12161767 12161767 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:12161767G>A uc003nac.2 + 8 6762 c.6583G>A c.(6583-6585)GAG>AAG p.E2195K HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2195 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGACGATGATGAGGACAGCCA 0.473 17 22 --- --- --- --- PASS NUP153 9972 broad.mit.edu 37 6 17637456 17637456 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:17637456C>A uc003ncd.1 - 16 2592 c.2392G>T c.(2392-2394)GAG>TAG p.E798* NUP153_uc011dje.1_Nonsense_Mutation_p.E829*|NUP153_uc010jpl.1_Nonsense_Mutation_p.E756* NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 798 RanBP2-type 3. carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) ACTGAACACTCCCAAGATCCA 0.408 56 76 --- --- --- --- PASS CDKAL1 54901 broad.mit.edu 37 6 21201499 21201499 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:21201499G>A uc003ndc.1 + 15 1716 c.1542G>A c.(1540-1542)TTG>TTA p.L514L CDKAL1_uc003ndd.1_Silent_p.L514L|CDKAL1_uc003nde.1_Silent_p.L423L|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 514 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TCTCGGGTTTGACAAAGGTAA 0.453 42 59 --- --- --- --- PASS LRRC16A 55604 broad.mit.edu 37 6 25554286 25554286 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:25554286G>A uc011djw.1 + 28 2930 c.2554G>A c.(2554-2556)GAA>AAA p.E852K LRRC16A_uc010jpx.2_Missense_Mutation_p.E852K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E852K|LRRC16A_uc003nfa.1_Missense_Mutation_p.E206K NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 852 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 AATTGTGGATGAAATCCTGGA 0.448 10 17 --- --- --- --- PASS SLC17A1 6568 broad.mit.edu 37 6 25811931 25811931 + Nonsense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:25811931G>C uc003nfh.3 - 9 1081 c.965C>G c.(964-966)TCA>TGA p.S322* SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.S320*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.S266* NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 322 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 GAAGAAGTCTGATAACTGACC 0.448 5 90 --- --- --- --- PASS HIST1H3D 8351 broad.mit.edu 37 6 26197084 26197084 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:26197084C>A uc003ngv.2 - 2 792 c.395G>T c.(394-396)CGT>CTT p.R132L HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 132 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) CCTCTCCCCACGAATGCGGCG 0.507 25 86 --- --- --- --- PASS HIST1H1D 3007 broad.mit.edu 37 6 26234618 26234618 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:26234618G>A uc003nhd.2 - 1 599 c.544C>T c.(544-546)CAG>TAG p.Q182* NM_005320 NP_005311 P16402 H13_HUMAN histone cluster 1, H1d 182 nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TTTTTTGGCTGAGGTGTTTTC 0.502 40 57 --- --- --- --- PASS BTN2A2 10385 broad.mit.edu 37 6 26393166 26393166 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:26393166C>T uc003nhq.2 + 8 1629 c.1543C>T c.(1543-1545)CAC>TAC p.H515Y BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.H399Y|BTN2A2_uc011dkh.1_Missense_Mutation_p.H305Y|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.H515Y|BTN2A2_uc011dki.1_3'UTR NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 515 Cytoplasmic (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 CCTGAAACTTCACAGAGTGGG 0.572 52 49 --- --- --- --- PASS BTN3A3 10384 broad.mit.edu 37 6 26444514 26444514 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:26444514G>T uc003nhz.2 + 4 595 c.415G>T c.(415-417)GTG>TTG p.V139L BTN3A3_uc003nia.2_Missense_Mutation_p.V97L|BTN3A3_uc011dkn.1_Missense_Mutation_p.V97L NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 139 Extracellular (Potential).|Ig-like V-type 1. integral to membrane 0 AAAAGCCCTGGTGGAGCTGAA 0.488 23 118 --- --- --- --- PASS BTN3A3 10384 broad.mit.edu 37 6 26445991 26445991 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:26445991G>T uc003nhz.2 + 5 673 c.493G>T c.(493-495)GAG>TAG p.E165* BTN3A3_uc003nia.2_Nonsense_Mutation_p.E123*|BTN3A3_uc011dkn.1_Nonsense_Mutation_p.E123* NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 165 Extracellular (Potential).|Ig-like V-type 2. integral to membrane 0 GATCCATCTGGAGTGCAGGTC 0.507 7 77 --- --- --- --- PASS HIST1H1B 3009 broad.mit.edu 37 6 27834802 27834802 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:27834802T>A uc003njx.2 - 1 558 c.506A>T c.(505-507)AAG>ATG p.K169M NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 169 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CTTCGCCACCTTTTTGACGCC 0.597 53 37 --- --- --- --- PASS HIST1H4L 8368 broad.mit.edu 37 6 27841265 27841265 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:27841265C>G uc003njz.2 - 1 25 c.24G>C c.(22-24)GGG>GGC p.G8G HIST1H3I_uc003njy.2_5'Flank NM_003546 NP_003537 P62805 H4_HUMAN histone cluster 1, H4l 8 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|breast(1) 2 CCAGACccttcccgcctttgc 0.448 7 46 --- --- --- --- PASS ZNF165 7718 broad.mit.edu 37 6 28053318 28053318 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:28053318G>A uc003nkg.2 + 3 1144 c.60G>A c.(58-60)CTG>CTA p.L20L ZNF165_uc003nkh.2_Silent_p.L20L|ZNF165_uc003nki.3_Silent_p.L20L NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 20 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AAGGACTTCTGATAGTGAAGA 0.448 56 163 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054912 29054912 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:29054912G>C uc003nlx.2 - 1 179 c.114C>G c.(112-114)ACC>ACG p.T38T NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 TGCCAAATATGGTGATTGTGT 0.408 16 59 --- --- --- --- PASS OR5V1 81696 broad.mit.edu 37 6 29323495 29323495 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:29323495T>C uc011dlo.1 - 1 560 c.478A>G c.(478-480)ACA>GCA p.T160A NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 GTCAACACTGTATGCACCACT 0.443 43 90 --- --- --- --- PASS OR11A1 26531 broad.mit.edu 37 6 29395013 29395013 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:29395013G>T uc003nmg.2 - 1 497 c.406C>A c.(406-408)CTG>ATG p.L136M NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGCCCCATCAGGAGTGGGTAG 0.562 38 12 --- --- --- --- PASS UBD 10537 broad.mit.edu 37 6 29524035 29524035 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:29524035C>G uc003nmo.2 - 2 344 c.120G>C c.(118-120)AAG>AAC p.K40N GABBR1_uc003nmp.3_3'UTR NM_006398 NP_006389 O15205 UBD_HUMAN ubiquitin D 40 Ubiquitin 1. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding 0 GAACCTTGGTCTTAGACCGGA 0.473 26 26 --- --- --- --- PASS GABBR1 2550 broad.mit.edu 37 6 29577154 29577154 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:29577154C>A uc003nmt.3 - 15 2047 c.1711G>T c.(1711-1713)GGG>TGG p.G571W GABBR1_uc003nmp.3_Missense_Mutation_p.G454W|GABBR1_uc003nms.3_Missense_Mutation_p.G454W|GABBR1_uc003nmu.3_Missense_Mutation_p.G509W|GABBR1_uc011dlr.1_Missense_Mutation_p.G394W|GABBR1_uc011dls.1_Intron NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 571 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) GGGGGGGACCCTCCTGCATGG 0.353 35 19 --- --- --- --- PASS MOG 4340 broad.mit.edu 37 6 29627135 29627135 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:29627135C>T uc003nnf.2 + 2 306 c.128C>T c.(127-129)GCT>GTT p.A43V MOG_uc003qzk.1_Missense_Mutation_p.A43V|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.A43V|MOG_uc003nmz.2_Missense_Mutation_p.A43V|MOG_uc011dlt.1_5'UTR|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.A43V|MOG_uc003nne.2_Missense_Mutation_p.A43V|MOG_uc003nng.2_Missense_Mutation_p.A43V|MOG_uc003nnh.2_Missense_Mutation_p.A43V|MOG_uc003nni.2_Missense_Mutation_p.A43V|MOG_uc003nnj.2_Missense_Mutation_p.A43V|MOG_uc003nnk.2_Missense_Mutation_p.A43V NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform 43 Ig-like V-type.|Extracellular (Potential). cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane ovary(1) 1 CCTATCCGGGCTCTGGTCGGG 0.557 55 168 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32017776 32017776 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:32017776C>G uc003nzl.2 - 27 9634 c.9432G>C c.(9430-9432)ACG>ACC p.T3144T NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3191 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TTCACTCACCCGTCACCCCAA 0.602 6 71 --- --- --- --- PASS HLA-DRB5 3127 broad.mit.edu 37 6 32497990 32497990 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:32497990C>G uc003obj.2 - 1 17 c.12G>C c.(10-12)CTG>CTC p.L4L HLA-DRB1_uc011dqa.1_Intron|HLA-DRB5_uc003obk.3_Intron NM_002125 NP_002116 Q30154 DRB5_HUMAN major histocompatibility complex, class II, DR 4 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 CAGGGAGCTTCAGACACACCA 0.567 13 142 --- --- --- --- PASS ZBTB22 9278 broad.mit.edu 37 6 33284035 33284035 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:33284035G>T uc003oeb.2 - 2 811 c.659C>A c.(658-660)TCC>TAC p.S220Y TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.S220Y NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTCTTGGGAGGAAGATGAGAA 0.617 8 53 --- --- --- --- PASS ITPR3 3710 broad.mit.edu 37 6 33641418 33641418 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:33641418C>G uc011drk.1 + 23 3198 c.2979C>G c.(2977-2979)GTC>GTG p.V993V NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 993 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TGCTGTCTGTCTTCAAGAAGG 0.552 86 74 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43403589 43403589 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:43403589G>A uc003ouy.1 + 5 1924 c.1709G>A c.(1708-1710)CGG>CAG p.R570Q ABCC10_uc003ouz.1_Missense_Mutation_p.R527Q|ABCC10_uc010jyo.1_5'UTR NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 570 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCCTTGGACCGGATCCAGCTT 0.567 13 71 --- --- --- --- PASS YIPF3 25844 broad.mit.edu 37 6 43480033 43480033 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:43480033C>A uc003ovl.1 - 9 1082 c.925G>T c.(925-927)GGC>TGC p.G309C C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.G274C|YIPF3_uc010jyr.1_Missense_Mutation_p.G315C|YIPF3_uc010jys.1_Missense_Mutation_p.G152C|YIPF3_uc003ovm.1_Missense_Mutation_p.G183C|YIPF3_uc010jyt.1_Missense_Mutation_p.G220C NM_015388 NP_056203 Q9GZM5 YIPF3_HUMAN natural killer cell-specific antigen KLIP1 309 cell differentiation integral to membrane|plasma membrane|transport vesicle 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) ATGTTGGGGCCCTCCAGTGTG 0.612 41 37 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46656656 46656656 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:46656656G>T uc003oyj.2 + 1 791 c.791G>T c.(790-792)CGC>CTC p.R264L TDRD6_uc010jze.2_Missense_Mutation_p.R258L NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 264 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CATCCCCACCGCATTCACTGC 0.622 5 27 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47846520 47846520 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:47846520C>G uc011dwm.1 - 3 2094 c.2009G>C c.(2008-2010)TGG>TCG p.W670S C6orf138_uc011dwn.1_Missense_Mutation_p.W434S NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 687 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 AAGAATTAGCCAGAAGTTTCC 0.458 13 131 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47847511 47847511 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:47847511G>T uc011dwm.1 - 3 1103 c.1018C>A c.(1018-1020)CCA>ACA p.P340T C6orf138_uc011dwn.1_Missense_Mutation_p.P104T NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 357 SSD. integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TTTGTGAATGGGCTGGCACCC 0.453 28 43 --- --- --- --- PASS DEFB110 245913 broad.mit.edu 37 6 49986761 49986761 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:49986761G>A uc003pac.2 - 2 179 c.133C>T c.(133-135)CAG>TAG p.Q45* DEFB110_uc011dwr.1_Intron NM_001037497 NP_001032586 Q30KQ9 DB110_HUMAN beta-defensin 110 isoform a 45 defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) TCATGACACTGATTTTTACAT 0.398 39 58 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51799118 51799118 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:51799118C>T uc003pah.1 - 37 6187 c.5911G>A c.(5911-5913)GGC>AGC p.G1971S PKHD1_uc010jzn.1_5'UTR|PKHD1_uc003pai.2_Missense_Mutation_p.G1971S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1971 Extracellular (Potential).|G8 1. G -> D (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ATCAGCTTGCCCCCTAATGGA 0.498 OREG0017491 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 71 --- --- --- --- PASS ELOVL5 60481 broad.mit.edu 37 6 53135398 53135398 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:53135398T>A uc003pbq.1 - 7 1197 c.749A>T c.(748-750)TAC>TTC p.Y250F ELOVL5_uc003pbr.1_Missense_Mutation_p.Y250F|ELOVL5_uc011dwx.1_Missense_Mutation_p.Y277F|ELOVL5_uc003pbs.1_Silent_p.L208L|ELOVL5_uc003pbt.3_RNA NM_021814 NP_068586 Q9NYP7 ELOV5_HUMAN elongation of very long chain fatty acids-like 250 YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(77;0.116) TACCTGAATGTAGAAGTTTGT 0.403 5 56 --- --- --- --- PASS ELOVL5 60481 broad.mit.edu 37 6 53160466 53160466 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:53160466T>C uc003pbq.1 - 2 480 c.32A>G c.(31-33)TAT>TGT p.Y11C ELOVL5_uc003pbr.1_Missense_Mutation_p.Y11C|ELOVL5_uc011dwx.1_Missense_Mutation_p.Y11C|ELOVL5_uc003pbs.1_Missense_Mutation_p.Y11C|ELOVL5_uc003pbu.2_Missense_Mutation_p.Y11C|ELOVL5_uc011dwy.1_RNA NM_021814 NP_068586 Q9NYP7 ELOV5_HUMAN elongation of very long chain fatty acids-like 11 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(77;0.116) TGCCTTGAAATAGGTACTAAG 0.353 6 39 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55196525 55196525 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:55196525G>T uc003pcm.1 + 2 121 c.35G>T c.(34-36)AGC>ATC p.S12I NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 12 integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATGGGGTTAAGCTTGGAAAAT 0.323 37 47 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55264069 55264069 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:55264069C>T uc003pcm.1 + 7 1130 c.1044C>T c.(1042-1044)TTC>TTT p.F348F NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 348 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATTCCCCCTTCAATGGTCAGT 0.299 10 12 --- --- --- --- PASS BMP5 653 broad.mit.edu 37 6 55623910 55623910 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:55623910A>G uc003pcq.2 - 6 1820 c.1108T>C c.(1108-1110)TGG>CGG p.W370R BMP5_uc011dxf.1_Intron NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 370 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GCTATAATCCAGTCCTGacac 0.249 6 63 --- --- --- --- PASS KIAA1586 57691 broad.mit.edu 37 6 56918885 56918885 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:56918885A>G uc003pdj.2 + 4 1758 c.1588A>G c.(1588-1590)ATT>GTT p.I530V KIAA1586_uc011dxm.1_Missense_Mutation_p.I503V NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 530 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGCTTTAATGATTGACATTCT 0.313 21 48 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66112499 66112499 + Splice_Site SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:66112499C>A uc011dxu.1 - 7 1595 c.1057_splice c.e7-1 p.D353_splice EYS_uc003peq.2_Splice_Site_p.D353_splice|EYS_uc003per.1_Splice_Site_p.D353_splice NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 ACATAACATCCTAGGAAAGAT 0.303 5 24 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70778345 70778345 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:70778345C>A uc003pfc.1 + 15 1318 c.1201C>A c.(1201-1203)CCA>ACA p.P401T COL19A1_uc010kam.1_Missense_Mutation_p.P297T NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 401 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CCCCCAAGGTCCACCTGGAAA 0.438 20 28 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75857502 75857502 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:75857502C>T uc003phs.2 - 23 4472 c.4306G>A c.(4306-4308)GAA>AAA p.E1436K COL12A1_uc003pht.2_Missense_Mutation_p.E272K NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1436 Fibronectin type-III 9. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GTGCTAGTTTCCATTCGACTC 0.373 43 52 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85448296 85448296 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:85448296C>T uc003pkl.1 - 7 1018 c.1018G>A c.(1018-1020)GCC>ACC p.A340T TBX18_uc010kbq.1_Missense_Mutation_p.A182T NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 340 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TCCACCAAGGCTTCCAAACCC 0.453 44 118 --- --- --- --- PASS C6orf165 154313 broad.mit.edu 37 6 88144698 88144698 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:88144698C>A uc003plv.2 + 11 1513 c.1421C>A c.(1420-1422)GCC>GAC p.A474D SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Missense_Mutation_p.A286D|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.A474D NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 474 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAGAAAAGGCCAAAAAAAAT 0.269 11 38 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90472117 90472117 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:90472117T>C uc003pnn.1 - 16 2393 c.2277A>G c.(2275-2277)AAA>AAG p.K759K MDN1_uc003pno.1_Silent_p.K177K NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 759 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CATGCCACCGTTTCTGTCTGT 0.453 32 78 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90482321 90482321 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:90482321G>C uc003pnn.1 - 14 2170 c.2054C>G c.(2053-2055)TCT>TGT p.S685C MDN1_uc003pno.1_Missense_Mutation_p.S103C NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 685 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTGGATGGTAGAGGTTTTGCC 0.473 36 74 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90482391 90482391 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:90482391G>A uc003pnn.1 - 14 2100 c.1984C>T c.(1984-1986)CAG>TAG p.Q662* MDN1_uc003pno.1_Nonsense_Mutation_p.Q80* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 662 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACTGCAAGCTGCTCGATGAGA 0.517 41 85 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90605460 90605460 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:90605460C>T uc011eaa.1 + 1 1273 c.1273C>T c.(1273-1275)CCA>TCA p.P425S NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 425 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CAGATCTCGCCCAGGCAGTCG 0.532 14 56 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 93964367 93964367 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:93964367C>G uc003poe.2 - 14 2771 c.2530G>C c.(2530-2532)GAT>CAT p.D844H EPHA7_uc003pof.2_Missense_Mutation_p.D839H|EPHA7_uc011eac.1_Missense_Mutation_p.D840H NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 844 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ACACCTACATCTTGATTTGAC 0.358 11 19 --- --- --- --- PASS KLHL32 114792 broad.mit.edu 37 6 97489367 97489367 + Splice_Site SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:97489367G>T uc010kcm.1 + 4 677 c.205_splice c.e4-1 p.A69_splice KLHL32_uc003poy.2_Splice_Site_p.A69_splice|KLHL32_uc011ead.1_Intron|KLHL32_uc003poz.2_Splice_Site|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_Splice_Site NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CCTCACCTCAGGCAATGTTCA 0.428 15 48 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100838631 100838631 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:100838631C>G uc003pqj.3 - 11 2114 c.1907G>C c.(1906-1908)AGA>ACA p.R636T SIM1_uc010kcu.2_Missense_Mutation_p.R636T NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 636 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTTTCCCTCTCTCTGCTGGAT 0.488 44 107 --- --- --- --- PASS LIN28B 389421 broad.mit.edu 37 6 105526586 105526586 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:105526586C>A uc003pqv.1 + 4 884 c.681C>A c.(679-681)TCC>TCA p.S227S LIN28B_uc010kda.1_3'UTR NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN lin-28 homolog B 227 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding 0 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) AAGCTTCCTCCACGAAGTCAT 0.483 10 48 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112451158 112451158 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:112451158C>G uc003pvu.2 - 30 4362 c.4053G>C c.(4051-4053)AAG>AAC p.K1351N LAMA4_uc003pvv.2_Missense_Mutation_p.K1344N|LAMA4_uc003pvt.2_Missense_Mutation_p.K1344N NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1351 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AGTAAAACTTCTTTTCACTTG 0.358 4 21 --- --- --- --- PASS RSPH4A 345895 broad.mit.edu 37 6 116948888 116948888 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:116948888G>A uc003pxe.2 + 3 1163 c.1018G>A c.(1018-1020)GCC>ACC p.A340T RSPH4A_uc010kee.2_Missense_Mutation_p.A340T NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 340 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 CATATTTCTTGCCCTCAAGCA 0.438 Kartagener_syndrome 30 67 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123892185 123892185 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:123892185C>A uc003pzj.1 - 2 137 c.115G>T c.(115-117)GAC>TAC p.D39Y TRDN_uc003pzk.1_Missense_Mutation_p.D39Y|TRDN_uc003pzl.1_Missense_Mutation_p.D39Y|TRDN_uc010ken.2_Missense_Mutation_p.D39Y|TRDN_uc010keo.1_Missense_Mutation_p.D39Y NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 39 Cytoplasmic. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) GTCACTATGTCTTCTGTGACT 0.473 20 45 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129674308 129674308 + Splice_Site SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:129674308G>T uc003qbn.2 + 32 4629 c.4524_splice c.e32-1 p.R1508_splice LAMA2_uc003qbo.2_Splice_Site_p.R1508_splice NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTTCAATTCAGGTGTGCCCCT 0.483 5 18 --- --- --- --- PASS SLC2A12 154091 broad.mit.edu 37 6 134350675 134350675 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:134350675G>T uc003qem.1 - 2 459 c.288C>A c.(286-288)ACC>ACA p.T96T NM_145176 NP_660159 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose 96 Helical; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity ovary(1) 1 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GGACCCCTCCGGTGAGTGAGG 0.507 34 46 --- --- --- --- PASS MAP3K5 4217 broad.mit.edu 37 6 136888770 136888770 + Nonsense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:136888770T>A uc003qhc.2 - 26 4121 c.3760A>T c.(3760-3762)AGA>TGA p.R1254* MAP3K5_uc011edj.1_Nonsense_Mutation_p.R501*|MAP3K5_uc011edk.1_Nonsense_Mutation_p.R1100* NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 1254 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AGGACTTACCTATTGGTTTCT 0.423 16 26 --- --- --- --- PASS TNFAIP3 7128 broad.mit.edu 37 6 138198379 138198379 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:138198379C>T uc003qhr.2 + 6 1038 c.972C>T c.(970-972)CTC>CTT p.L324L TNFAIP3_uc003qhs.2_Silent_p.L324L NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 324 2 X approximate repeats.|2. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22)|p.L324fs*7(1) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CAACTCATCTCATCAATGCCG 0.463 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 20 42 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144820427 144820427 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:144820427C>A uc003qkt.2 + 33 4720 c.4628C>A c.(4627-4629)TCA>TAA p.S1543* NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1543 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAAAGAGCATCACAGTTGGCC 0.463 14 46 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146720825 146720825 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:146720825G>C uc010khw.1 + 8 3120 c.2650G>C c.(2650-2652)GGG>CGG p.G884R GRM1_uc010khv.1_Missense_Mutation_p.G884R|GRM1_uc003qll.2_Missense_Mutation_p.G884R|GRM1_uc011edz.1_Missense_Mutation_p.G884R|GRM1_uc011eea.1_Missense_Mutation_p.G884R NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 884 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCAGGGGCAGGGAATGCCAA 0.353 5 26 --- --- --- --- PASS PLEKHG1 57480 broad.mit.edu 37 6 151107545 151107545 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:151107545G>T uc003qny.1 + 5 844 c.532G>T c.(532-534)GAA>TAA p.E178* PLEKHG1_uc011eel.1_Nonsense_Mutation_p.E218*|PLEKHG1_uc011eem.1_Nonsense_Mutation_p.E237*|PLEKHG1_uc003qnz.2_Nonsense_Mutation_p.E178* NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 178 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GCAAGATTTGGAAAACTGTGA 0.378 19 31 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152782735 152782735 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:152782735G>T uc010kiw.2 - 21 2993 c.2391C>A c.(2389-2391)ACC>ACA p.T797T SYNE1_uc003qot.3_Silent_p.T804T|SYNE1_uc003qou.3_Silent_p.T797T|SYNE1_uc010kjb.1_Silent_p.T780T|SYNE1_uc003qow.2_Silent_p.T92T|SYNE1_uc003qox.1_Silent_p.T313T|SYNE1_uc003qoz.2_Silent_p.T229T|SYNE1_uc003qoy.2_Silent_p.T364T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 797 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCGCACCTTGGTTAGCTGCT 0.433 HNSCC(10;0.0054) 4 69 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159687195 159687195 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:159687195G>T uc010kjv.2 + 21 5564 c.5364G>T c.(5362-5364)AAG>AAT p.K1788N NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1788 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AATATGTGAAGCGCACGTGGT 0.468 34 92 --- --- --- --- PASS AGPAT4 56895 broad.mit.edu 37 6 161574454 161574454 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:161574454C>A uc003qtr.1 - 5 815 c.588G>T c.(586-588)GGG>GGT p.G196G AGPAT4_uc003qts.1_Silent_p.G56G|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_3'UTR|AGPAT4_uc011egd.1_3'UTR|AGPAT4_uc011ege.1_3'UTR NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 196 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) GGCGAGGCAGCCCCTTGGCCC 0.587 4 9 --- --- --- --- PASS PACRG 135138 broad.mit.edu 37 6 163483209 163483209 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:163483209C>A uc003qua.2 + 4 543 c.319C>A c.(319-321)CAT>AAT p.H107N PACRG_uc003qub.2_Missense_Mutation_p.H107N|PACRG_uc003quc.2_Missense_Mutation_p.H107N NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 107 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) GGATTACCATCATTATCTGCC 0.453 16 41 --- --- --- --- PASS TTLL2 83887 broad.mit.edu 37 6 167753790 167753790 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:167753790A>G uc003qvs.1 + 3 490 c.402A>G c.(400-402)GAA>GAG p.E134E TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 134 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GAATGACCGAACACAACAGTG 0.527 13 24 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169646362 169646362 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:169646362G>A uc003qwt.2 - 5 872 c.624C>T c.(622-624)AAC>AAT p.N208N NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 208 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CTAGGTGGACGTTCTGAAGCA 0.388 10 53 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169649011 169649011 + Missense_Mutation SNP C T T rs150716666 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:169649011C>T uc003qwt.2 - 4 358 c.110G>A c.(109-111)CGC>CAC p.R37H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 37 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AATGGTCTTGCGGTTGATGTT 0.592 6 25 --- --- --- --- PASS NUDT1 4521 broad.mit.edu 37 7 2284214 2284214 + Missense_Mutation SNP G C C rs144573336 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:2284214G>C uc003slp.1 + 3 176 c.74G>C c.(73-75)GGC>GCC p.G25A FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Missense_Mutation_p.G2A|NUDT1_uc003slr.1_Missense_Mutation_p.G2A|NUDT1_uc003sls.1_Missense_Mutation_p.G25A|NUDT1_uc003slt.1_Missense_Mutation_p.G2A|NUDT1_uc003slu.1_Missense_Mutation_p.G25A|NUDT1_uc003slv.1_Missense_Mutation_p.G2A NM_198949 NP_945187 P36639 8ODP_HUMAN nudix-type motif 1 isoform p22 43 DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding 0 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) GGGACCATGGGCGCCTCCAGG 0.632 Direct_reversal_of_damage|Modulation_of_nucleotide_pools 8 62 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 3991404 3991404 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:3991404G>T uc003smx.2 + 7 1141 c.1002G>T c.(1000-1002)GTG>GTT p.V334V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 334 Ig-like C2-type 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGAATGGAGTGAGAATCACCA 0.607 11 53 --- --- --- --- PASS PMS2 5395 broad.mit.edu 37 7 6027050 6027050 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:6027050T>C uc003spl.2 - 11 1433 c.1346A>G c.(1345-1347)CAG>CGG p.Q449R PMS2_uc003spj.2_Missense_Mutation_p.Q343R|PMS2_uc003spk.2_Missense_Mutation_p.Q314R|PMS2_uc011jwl.1_Missense_Mutation_p.Q314R|PMS2_uc010ktg.2_Missense_Mutation_p.Q138R|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.Q449R NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 449 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) ACCCCTTTTCTGTCCTAGAGG 0.522 Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 25 63 --- --- --- --- PASS PMS2 5395 broad.mit.edu 37 7 6048643 6048643 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:6048643C>T uc003spl.2 - 1 95 c.8G>A c.(7-9)CGA>CAA p.R3Q PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_5'UTR|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Missense_Mutation_p.R3Q|PMS2_uc010ktf.1_Missense_Mutation_p.R3Q|AIMP2_uc003spo.2_5'Flank NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 3 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GCTCTCAGCTCGCTCCATGGA 0.647 Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 17 44 --- --- --- --- PASS ICA1 3382 broad.mit.edu 37 7 8167699 8167699 + Missense_Mutation SNP C G G rs144420664 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:8167699C>G uc003srm.2 - 13 1201 c.1134G>C c.(1132-1134)GAG>GAC p.E378D ICA1_uc010ktr.2_Missense_Mutation_p.E407D|ICA1_uc003srl.2_Missense_Mutation_p.E366D|ICA1_uc003srn.3_Missense_Mutation_p.E304D|ICA1_uc003srp.3_Missense_Mutation_p.E377D|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.E378D|ICA1_uc003srr.2_Missense_Mutation_p.E377D|ICA1_uc003sro.3_Missense_Mutation_p.E378D NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 378 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CATTGAAGATCTCACTCAACA 0.552 46 181 --- --- --- --- PASS PHF14 9678 broad.mit.edu 37 7 11022091 11022091 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:11022091G>T uc003sry.1 + 3 640 c.205G>T c.(205-207)GAA>TAA p.E69* PHF14_uc011jxi.1_Intron|PHF14_uc003srz.2_Nonsense_Mutation_p.E69*|PHF14_uc011jxj.1_Intron NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 69 Glu/Lys-rich. zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TTTAGAAGAAGAACTGAATGA 0.318 23 24 --- --- --- --- PASS PHF14 9678 broad.mit.edu 37 7 11078410 11078410 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:11078410A>G uc003sry.1 + 11 2439 c.2004A>G c.(2002-2004)CTA>CTG p.L668L PHF14_uc011jxi.1_Silent_p.L383L|PHF14_uc003srz.2_Silent_p.L668L|PHF14_uc011jxj.1_Silent_p.L383L NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 668 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TAGAAGAACTACAAAACCTGA 0.343 9 30 --- --- --- --- PASS SNX13 23161 broad.mit.edu 37 7 17930043 17930043 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:17930043G>C uc003stw.1 - 5 596 c.383C>G c.(382-384)TCT>TGT p.S128C SNX13_uc003stv.2_Missense_Mutation_p.S128C|SNX13_uc010kuc.2_Translation_Start_Site|SNX13_uc003stx.1_Missense_Mutation_p.S48C|SNX13_uc003sty.2_Missense_Mutation_p.S128C Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 128 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) AAGAAGAAAAGATTCATCATC 0.318 25 59 --- --- --- --- PASS PRPS1L1 221823 broad.mit.edu 37 7 18066588 18066588 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:18066588T>A uc003stz.2 - 1 899 c.818A>T c.(817-819)AAT>ATT p.N273I NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 273 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) AGGTATGGTATTGGTGACTAC 0.438 41 151 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18705919 18705919 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:18705919G>C uc003suh.2 + 11 1583 c.1542G>C c.(1540-1542)GCG>GCC p.A514A HDAC9_uc003sue.2_Silent_p.A514A|HDAC9_uc011jyd.1_Silent_p.A514A|HDAC9_uc003sui.2_Silent_p.A517A|HDAC9_uc003suj.2_Silent_p.A473A|HDAC9_uc011jya.1_Silent_p.A511A|HDAC9_uc003sua.1_Silent_p.A492A|HDAC9_uc011jyb.1_Silent_p.A470A|HDAC9_uc003sud.1_Silent_p.A514A|HDAC9_uc011jyc.1_Silent_p.A473A|HDAC9_uc003suf.1_Silent_p.A545A|HDAC9_uc010kud.1_Silent_p.A517A|HDAC9_uc011jye.1_Silent_p.A486A|HDAC9_uc011jyf.1_Silent_p.A437A|HDAC9_uc010kue.1_Intron NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 514 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GGGACCAGGCGATGCAGGAAG 0.532 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 102 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20691164 20691164 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:20691164G>T uc003suw.3 + 4 665 c.119G>T c.(118-120)GGA>GTA p.G40V ABCB5_uc010kuh.2_Missense_Mutation_p.G485V|ABCB5_uc003suv.3_Missense_Mutation_p.G40V|ABCB5_uc011jyi.1_Missense_Mutation_p.G40V NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 40 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 ATCAAGTATGGACGAGATGAT 0.433 9 164 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20784959 20784959 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:20784959G>A uc003suw.3 + 17 2538 c.1992G>A c.(1990-1992)GAG>GAA p.E664E ABCB5_uc010kuh.2_Silent_p.E1109E NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 664 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GCATTGCTGAGAACATCGCCT 0.458 20 91 --- --- --- --- PASS SP4 6671 broad.mit.edu 37 7 21468913 21468913 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:21468913C>T uc003sva.2 + 3 311 c.130C>T c.(130-132)CAG>TAG p.Q44* SP4_uc003svb.2_Intron NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 44 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 GTAGGACTCTCAGCCCTCTCC 0.483 13 25 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21639594 21639594 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:21639594C>T uc003svc.2 + 15 2888 c.2857C>T c.(2857-2859)CCT>TCT p.P953S NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 953 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTTGTTGCCTCCTGAGATTGT 0.398 Kartagener_syndrome 10 78 --- --- --- --- PASS TRA2A 29896 broad.mit.edu 37 7 23561452 23561452 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:23561452C>T uc003swi.2 - 2 258 c.44G>A c.(43-45)CGC>CAC p.R15H TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 15 nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 TGACTGAGAGCGAGACTCCTA 0.423 44 57 --- --- --- --- PASS HOXA3 3200 broad.mit.edu 37 7 27148264 27148264 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:27148264G>C uc011jzl.1 - 3 802 c.602C>G c.(601-603)GCG>GGG p.A201G HOXA3_uc011jzk.1_Missense_Mutation_p.A43G|HOXA3_uc003syk.2_Missense_Mutation_p.A201G NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 201 Homeobox. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 CACCAGCTGCGCGCTCGTGTA 0.667 10 53 --- --- --- --- PASS MIR196B 442920 broad.mit.edu 37 7 27209158 27209158 + RNA SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:27209158G>A hsa-mir-196b|MI0001150 - c.25G>A 0 CCAACAACAGGAAACTACCTA 0.473 OREG0003744 type=REGULATORY REGION|Gene=HOXA9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 23 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31864492 31864492 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:31864492C>A uc003tcm.1 - 13 1864 c.1395G>T c.(1393-1395)CAG>CAT p.Q465H PDE1C_uc003tcn.1_Missense_Mutation_p.Q465H|PDE1C_uc003tco.1_Missense_Mutation_p.Q525H|PDE1C_uc003tcr.2_Missense_Mutation_p.Q465H|PDE1C_uc003tcs.2_Missense_Mutation_p.Q465H NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 465 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) TCGAACGCCTCTGTCCTGTCC 0.507 31 102 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34097706 34097706 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:34097706C>A uc011kap.1 + 10 1077 c.963C>A c.(961-963)ATC>ATA p.I321I NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 321 VWFC 5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 ATTGTACCATCTGTGCTTGTG 0.502 13 39 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34182965 34182965 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:34182965T>C uc011kap.1 + 14 1983 c.1869T>C c.(1867-1869)AAT>AAC p.N623N NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 623 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CTCAGCAGAATTGTGCAGGTA 0.488 11 42 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38516551 38516551 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:38516551T>A uc003tgu.2 - 6 484 c.415A>T c.(415-417)AGC>TGC p.S139C AMPH_uc003tgv.2_Missense_Mutation_p.S139C NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 139 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 AGCTTCCTGCTGCGCTTGGCG 0.502 15 45 --- --- --- --- PASS POU6F2 11281 broad.mit.edu 37 7 39243867 39243867 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:39243867G>T uc003thb.1 + 3 266 c.224G>T c.(223-225)GGC>GTC p.G75V POU6F2_uc010kxo.2_Missense_Mutation_p.G67V NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 75 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 TCAGACCCAGGCACTCCTGAC 0.493 15 34 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42004165 42004165 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:42004165T>A uc011kbh.1 - 15 4597 c.4506A>T c.(4504-4506)GTA>GTT p.V1502V GLI3_uc011kbg.1_Silent_p.V1443V NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1502 Asp/Glu-rich (acidic). negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 AGTCAATCTGTACCCCTTCCA 0.542 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 9 33 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42063099 42063099 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:42063099T>A uc011kbh.1 - 10 1556 c.1465A>T c.(1465-1467)AGG>TGG p.R489W GLI3_uc011kbg.1_Missense_Mutation_p.R430W NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 489 C2H2-type 1. negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TCGAACTCCCTCGCGCAGCCT 0.527 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 8 41 --- --- --- --- PASS C7orf25 79020 broad.mit.edu 37 7 42950098 42950098 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:42950098C>A uc003thw.2 - 2 866 c.402G>T c.(400-402)AGG>AGT p.R134S C7orf25_uc010kxq.2_Missense_Mutation_p.R134S|C7orf25_uc003thx.3_Missense_Mutation_p.R192S|C7orf25_uc010kxr.2_Missense_Mutation_p.R192S NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 134 skin(1) 1 CATATTGGCCCCTGCCCAGCC 0.507 23 51 --- --- --- --- PASS MRPL32 64983 broad.mit.edu 37 7 42976962 42976962 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:42976962G>T uc003tia.2 + 3 401 c.354G>T c.(352-354)CAG>CAT p.Q118H MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.Q65H NM_031903 NP_114109 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 precursor 118 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome 0 ACCTGAAACAGAAACATGTCC 0.403 17 73 --- --- --- --- PASS GCK 2645 broad.mit.edu 37 7 44184789 44184789 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:44184789G>T uc003tkl.2 - 10 1814 c.1344C>A c.(1342-1344)GGC>GGA p.G448G GCK_uc003tkh.1_Silent_p.G121G|GCK_uc003tki.1_Silent_p.G126G|GCK_uc003tkj.1_Silent_p.G447G|GCK_uc003tkk.1_Silent_p.G449G NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 448 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 CCAGGGCCGCGCCCCGGCCAC 0.672 4 10 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48314472 48314472 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:48314472A>G uc003toq.2 + 17 5234 c.5209A>G c.(5209-5211)AAA>GAA p.K1737E ABCA13_uc010kyr.2_Missense_Mutation_p.K1240E NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1737 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCTGTTTCCTAAAGATGTTGT 0.438 19 55 --- --- --- --- PASS EGFR 1956 broad.mit.edu 37 7 55233016 55233016 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:55233016C>T uc003tqk.2 + 15 2012 c.1766C>T c.(1765-1767)CCC>CTC p.P589L EGFR_uc003tqi.2_Missense_Mutation_p.P589L|EGFR_uc003tqj.2_Missense_Mutation_p.P589L|EGFR_uc010kzg.1_Missense_Mutation_p.P544L|EGFR_uc011kco.1_Missense_Mutation_p.P536L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 589 Approximate.|Extracellular (Potential). DGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATTGACGGCCCCCACTGCGTC 0.532 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 18 214 --- --- --- --- PASS CHCHD2 51142 broad.mit.edu 37 7 56172045 56172045 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:56172045C>T uc003tsa.2 - 2 255 c.174G>A c.(172-174)CAG>CAA p.Q58Q PSPH_uc003trj.2_Intron NM_016139 NP_057223 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain 58 mitochondrion 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGGTTGCCATCTGGGCCATCA 0.647 24 53 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57188465 57188465 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:57188465G>T uc010kzo.2 - 5 928 c.657C>A c.(655-657)GGC>GGA p.G219G NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 219 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TAAAGGATTTGCCACATTCTT 0.363 9 14 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 70800691 70800691 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:70800691C>G uc003tvy.2 + 2 394 c.394C>G c.(394-396)CGT>GGT p.R132G WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 132 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) TTCACTGGACCGTTCCATTCC 0.488 19 23 --- --- --- --- PASS GNAI1 2770 broad.mit.edu 37 7 79846649 79846649 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:79846649A>G uc003uhb.1 + 8 1242 c.905A>G c.(904-906)TAT>TGT p.Y302C GNAI1_uc011kgt.1_Missense_Mutation_p.Y250C NM_002069 NP_002060 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), 302 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GCAGCTGCATATATTCAATGT 0.338 5 50 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82784244 82784244 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:82784244T>A uc003uhx.2 - 2 2002 c.1713A>T c.(1711-1713)ACA>ACT p.T571T PCLO_uc003uhv.2_Silent_p.T571T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 517 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATGGAGACACTGTTGGTGGCT 0.498 176 133 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82784705 82784705 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:82784705G>A uc003uhx.2 - 2 1541 c.1252C>T c.(1252-1254)CCA>TCA p.P418S PCLO_uc003uhv.2_Missense_Mutation_p.P418S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGGGGTTTTGGTGTCCCCACC 0.587 12 124 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87104757 87104757 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:87104757C>G uc003uiv.1 - 2 101 c.25G>C c.(25-27)GGA>CGA p.G9R ABCB4_uc003uiw.1_Missense_Mutation_p.G9R|ABCB4_uc003uix.1_Missense_Mutation_p.G9R|ABCB4_uc003uiy.2_Missense_Mutation_p.G9R NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 9 Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CAGGCTGTTCCGTTCTTTGCC 0.632 5 29 --- --- --- --- PASS PPP1R9A 55607 broad.mit.edu 37 7 94917904 94917904 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:94917904G>T uc003unp.2 + 15 3240 c.2958G>T c.(2956-2958)CAG>CAT p.Q986H PPP1R9A_uc010lfj.2_Missense_Mutation_p.Q1262H|PPP1R9A_uc011kif.1_Missense_Mutation_p.Q1184H|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Missense_Mutation_p.Q978H|PPP1R9A_uc003unr.2_Missense_Mutation_p.Q275H NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 986 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GGGCCGTTCAGGAATGGAGTG 0.453 HNSCC(28;0.073) 39 38 --- --- --- --- PASS ZKSCAN5 23660 broad.mit.edu 37 7 99129345 99129345 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:99129345G>T uc003uqv.2 + 7 2117 c.1993G>T c.(1993-1995)GAA>TAA p.E665* ZKSCAN5_uc010lfx.2_Nonsense_Mutation_p.E665*|ZKSCAN5_uc003uqw.2_Nonsense_Mutation_p.E665*|ZKSCAN5_uc003uqx.2_Nonsense_Mutation_p.E592*|ZKSCAN5_uc003uqy.2_Nonsense_Mutation_p.E401* NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 665 C2H2-type 9. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCAGTGTCGTGAATGTGGGGA 0.468 42 41 --- --- --- --- PASS MOSPD3 64598 broad.mit.edu 37 7 100210858 100210858 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:100210858G>C uc003uvq.2 + 3 449 c.247G>C c.(247-249)GAG>CAG p.E83Q MOSPD3_uc003uvr.2_Missense_Mutation_p.E83Q|MOSPD3_uc003uvs.2_Missense_Mutation_p.E83Q|MOSPD3_uc003uvt.2_Missense_Mutation_p.E83Q NM_001040097 NP_001035186 O75425 MSPD3_HUMAN motile sperm domain containing 3 isoform a 83 MSP. integral to membrane structural molecule activity ovary(2) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GTTTGACGCAGAGGGATATGT 0.567 86 124 --- --- --- --- PASS ORC5L 5001 broad.mit.edu 37 7 103808925 103808925 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:103808925C>T uc003vcb.2 - 9 984 c.873G>A c.(871-873)CTG>CTA p.L291L ORC5L_uc011klp.1_Silent_p.L159L|ORC5L_uc003vcc.2_Silent_p.L291L NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 291 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 TGATACCTTTCAGTTGCCCCG 0.333 32 22 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106509912 106509912 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:106509912T>C uc003vdv.3 + 2 1991 c.1906T>C c.(1906-1908)TCA>CCA p.S636P PIK3CG_uc003vdu.2_Missense_Mutation_p.S636P|PIK3CG_uc003vdw.2_Missense_Mutation_p.S636P NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 636 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CTGCAACTTCTCAGATGAAAA 0.338 9 62 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106524666 106524666 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:106524666G>T uc003vdv.3 + 9 2912 c.2827G>T c.(2827-2829)GGA>TGA p.G943* PIK3CG_uc003vdu.2_Nonsense_Mutation_p.G943*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.G943* NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 943 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CTTTGTTCTTGGAATAGGCGA 0.328 30 60 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106524667 106524667 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:106524667G>T uc003vdv.3 + 9 2913 c.2828G>T c.(2827-2829)GGA>GTA p.G943V PIK3CG_uc003vdu.2_Missense_Mutation_p.G943V|PIK3CG_uc003vdw.2_Missense_Mutation_p.G943V NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 943 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TTTGTTCTTGGAATAGGCGAC 0.323 29 62 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121726155 121726155 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:121726155C>A uc003vka.2 - 18 2191 c.2095G>T c.(2095-2097)GGC>TGC p.G699C AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.G699C|AASS_uc011knw.1_Missense_Mutation_p.G187C NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 699 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) TTAGGATAGCCTTCCAAATTT 0.438 23 34 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122111611 122111611 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:122111611C>A uc010lkp.2 - 13 2167 c.2004G>T c.(2002-2004)TGG>TGT p.W668C CADPS2_uc011knx.1_Missense_Mutation_p.W39C|CADPS2_uc003vkg.3_Missense_Mutation_p.W365C|CADPS2_uc010lkq.2_Missense_Mutation_p.W665C NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 668 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CAGGGCTAAACCATCCCTGCA 0.413 8 11 --- --- --- --- PASS SPAM1 6677 broad.mit.edu 37 7 123594272 123594272 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:123594272G>T uc003vld.2 + 4 1050 c.648G>T c.(646-648)TGG>TGT p.W216C SPAM1_uc003vle.2_Missense_Mutation_p.W216C|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.W216C|SPAM1_uc010lku.2_Missense_Mutation_p.W216C NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 216 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) ATCACTTGTGGGGTTATTATC 0.368 25 40 --- --- --- --- PASS IMPDH1 3614 broad.mit.edu 37 7 128038584 128038584 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:128038584G>A uc011kol.1 - 7 809 c.703C>T c.(703-705)CTG>TTG p.L235L IMPDH1_uc011kom.1_Silent_p.L230L|IMPDH1_uc003vmt.2_Silent_p.L210L|IMPDH1_uc003vmu.2_Silent_p.L320L|IMPDH1_uc003vmw.2_Silent_p.L310L|IMPDH1_uc011kon.1_Silent_p.L287L|IMPDH1_uc003vmv.2_Silent_p.L284L|IMPDH1_uc003vmx.2_Silent_p.L243L|IMPDH1_uc003vmy.2_Silent_p.L251L NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 235 CBS 2. GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) TTGGAGGCCAGAGGGTAGTCT 0.597 OREG0018292 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 35 --- --- --- --- PASS IMPDH1 3614 broad.mit.edu 37 7 128041089 128041089 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:128041089C>A uc011kol.1 - 3 335 c.229G>T c.(229-231)GAC>TAC p.D77Y IMPDH1_uc011kom.1_Missense_Mutation_p.D77Y|IMPDH1_uc003vmt.2_Missense_Mutation_p.D77Y|IMPDH1_uc003vmu.2_Missense_Mutation_p.D162Y|IMPDH1_uc003vmw.2_Missense_Mutation_p.D152Y|IMPDH1_uc011kon.1_Missense_Mutation_p.D129Y|IMPDH1_uc003vmv.2_Missense_Mutation_p.D126Y|IMPDH1_uc003vmx.2_Missense_Mutation_p.D85Y|IMPDH1_uc003vmy.2_Missense_Mutation_p.D93Y NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 77 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) ATGGCCATGTCAGCCTCTGTC 0.612 17 15 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131872353 131872353 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:131872353G>A uc003vra.3 - 15 3099 c.2870C>T c.(2869-2871)TCA>TTA p.S957L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 957 IPT/TIG 2.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CTTCAGATCTGAGAGAGTCAG 0.607 84 59 --- --- --- --- PASS CNOT4 4850 broad.mit.edu 37 7 135048770 135048770 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:135048770C>A uc011kpy.1 - 10 1768 c.1676G>T c.(1675-1677)GGG>GTG p.G559V CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_Missense_Mutation_p.G556V|CNOT4_uc003vst.2_Intron NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 TGCCCTTAGCCCGTCCTGCCA 0.423 12 133 --- --- --- --- PASS WEE2 494551 broad.mit.edu 37 7 141429329 141429329 + Splice_Site SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:141429329A>C uc003vwn.2 + 11 1942 c.1536_splice c.e11-2 p.R512_splice FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) CTCGCACTTCAGGGAACTGAG 0.448 14 81 --- --- --- --- PASS OR6V1 346517 broad.mit.edu 37 7 142750136 142750136 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:142750136G>T uc011ksv.1 + 1 699 c.699G>T c.(697-699)CAG>CAT p.Q233H NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) GCAGCTGCCAGAAGGCTTTCT 0.552 48 35 --- --- --- --- PASS TAS2R41 259287 broad.mit.edu 37 7 143175872 143175872 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:143175872G>T uc003wdc.1 + 1 907 c.907G>T c.(907-909)GGC>TGC p.G303C uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 303 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) GTTGGCAAGGGGCTTCTGGGT 0.522 16 10 --- --- --- --- PASS GIMAP1 170575 broad.mit.edu 37 7 150417175 150417175 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:150417175G>A uc003whq.2 + 3 170 c.83G>A c.(82-84)CGG>CAG p.R28Q GIMAP1_uc003whp.2_Missense_Mutation_p.R36Q NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 28 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGTCCACGCGGAGGCTCATC 0.557 83 101 --- --- --- --- PASS ABCF2 10061 broad.mit.edu 37 7 150921165 150921165 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:150921165C>T uc003wjp.2 - 4 514 c.403G>A c.(403-405)GAA>AAA p.E135K ABCF2_uc003wjo.1_Missense_Mutation_p.E135K NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 135 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATGGGCACTTCACGCTTCCCA 0.532 38 25 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154564582 154564582 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:154564582C>T uc003wlk.2 + 10 1195 c.1066C>T c.(1066-1068)CTA>TTA p.L356L DPP6_uc003wli.2_Silent_p.L292L|DPP6_uc003wlm.2_Silent_p.L294L|DPP6_uc011kvq.1_Silent_p.L249L NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 356 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CAGCATTTCCCTACACGTTAT 0.468 17 27 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154564583 154564583 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:154564583T>A uc003wlk.2 + 10 1196 c.1067T>A c.(1066-1068)CTA>CAA p.L356Q DPP6_uc003wli.2_Missense_Mutation_p.L292Q|DPP6_uc003wlm.2_Missense_Mutation_p.L294Q|DPP6_uc011kvq.1_Missense_Mutation_p.L249Q NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 356 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGCATTTCCCTACACGTTATT 0.468 17 27 --- --- --- --- PASS SHH 6469 broad.mit.edu 37 7 155598997 155598997 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:155598997C>T uc003wmk.1 - 2 706 c.555G>A c.(553-555)GTG>GTA p.V185V SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Silent_p.V98V|SHH_uc003wmj.1_Silent_p.V98V NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 185 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TACCTGCTTTCACCGAGCAGT 0.627 7 31 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157396693 157396693 + Splice_Site SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr7:157396693C>T uc003wno.2 - 16 2539 c.2418_splice c.e16+1 p.I806_splice PTPRN2_uc003wnp.2_Splice_Site_p.I789_splice|PTPRN2_uc003wnq.2_Splice_Site_p.I777_splice|PTPRN2_uc003wnr.2_Splice_Site_p.I768_splice|PTPRN2_uc011kwa.1_Splice_Site_p.I829_splice NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGTGCACTTACGATGGGGCTA 0.627 10 24 --- --- --- --- PASS DEFA5 1670 broad.mit.edu 37 8 6914138 6914138 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:6914138C>A uc003wra.1 - 1 122 c.82G>T c.(82-84)GAG>TAG p.E28* NM_021010 NP_066290 Q01523 DEF5_HUMAN defensin, alpha 5 preproprotein 28 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GTTGTAGCCTCATCAGCTCTT 0.567 22 22 --- --- --- --- PASS SORBS3 10174 broad.mit.edu 37 8 22421834 22421834 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:22421834G>C uc003xbv.2 + 9 1054 c.714G>C c.(712-714)ACG>ACC p.T238T SORBS3_uc011kzk.1_RNA|SORBS3_uc003xbw.3_5'Flank NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 238 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding 0 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) ATGTCTGGACGGAAGAGTCCT 0.582 7 9 --- --- --- --- PASS FZD3 7976 broad.mit.edu 37 8 28384825 28384825 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:28384825G>T uc003xgx.2 + 5 1026 c.548G>T c.(547-549)CGT>CTT p.R183L FZD3_uc010lvb.2_Missense_Mutation_p.R183L NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 183 Extracellular (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) CTGCATGTGCGTGATTGTTCA 0.438 28 37 --- --- --- --- PASS FZD3 7976 broad.mit.edu 37 8 28385267 28385267 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:28385267G>A uc003xgx.2 + 5 1468 c.990G>A c.(988-990)CTG>CTA p.L330L FZD3_uc010lvb.2_Silent_p.L330L NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 330 Helical; Name=4; (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) AAGCATTGCTGTTTCACGCCA 0.448 30 28 --- --- --- --- PASS XKR4 114786 broad.mit.edu 37 8 56436703 56436703 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:56436703G>C uc003xsf.2 + 3 1902 c.1870G>C c.(1870-1872)GAA>CAA p.E624Q NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 624 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TTTAGCTTTTGAATGTTCCCC 0.438 30 14 --- --- --- --- PASS TGS1 96764 broad.mit.edu 37 8 56699597 56699597 + Silent SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:56699597A>C uc003xsj.3 + 4 1527 c.1140A>C c.(1138-1140)ACA>ACC p.T380T TGS1_uc010lyh.2_Silent_p.T284T NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 380 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) CGGGGAATACAAACACAGACC 0.413 21 20 --- --- --- --- PASS CYP7A1 1581 broad.mit.edu 37 8 59409573 59409573 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:59409573C>A uc003xtm.3 - 3 561 c.498G>T c.(496-498)TGG>TGT p.W166C NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 166 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CTTCTGTCACCCAGGCAGCGG 0.483 Neonatal_Giant_Cell_Hepatitis 42 41 --- --- --- --- PASS SGK3 23678 broad.mit.edu 37 8 67726104 67726104 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:67726104A>G uc003xwr.2 + 5 569 c.270A>G c.(268-270)AGA>AGG p.R90R SGK3_uc003xwp.2_Silent_p.R84R|SGK3_uc003xwt.2_Silent_p.R90R|SGK3_uc003xwu.2_Silent_p.R90R NM_001033578 NP_001028750 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase 3 isoform 90 PX. R->A: Partially localized to the membrane. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity ovary(1)|large_intestine(1)|lung(1)|breast(1) 4 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTAAACAAAGACGAGCAGGAC 0.308 23 28 --- --- --- --- PASS CPA6 57094 broad.mit.edu 37 8 68423882 68423882 + Missense_Mutation SNP A G G rs151119622 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:68423882A>G uc003xxq.3 - 4 582 c.326T>C c.(325-327)ATA>ACA p.I109T CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.I109T NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 109 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) AAGATCTTCTATGAGGACCCT 0.378 55 42 --- --- --- --- PASS SULF1 23213 broad.mit.edu 37 8 70501234 70501234 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:70501234G>A uc010lza.1 + 8 1309 c.592G>A c.(592-594)GAG>AAG p.E198K SULF1_uc003xyd.2_Missense_Mutation_p.E198K|SULF1_uc003xye.2_Missense_Mutation_p.E198K|SULF1_uc003xyf.2_Missense_Mutation_p.E198K|SULF1_uc003xyg.2_Missense_Mutation_p.E198K NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 198 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AATCACTAACGAGAGCATTAA 0.428 14 15 --- --- --- --- PASS SULF1 23213 broad.mit.edu 37 8 70541837 70541837 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:70541837G>A uc010lza.1 + 19 2924 c.2207G>A c.(2206-2208)GGG>GAG p.G736E SULF1_uc003xyd.2_Missense_Mutation_p.G736E|SULF1_uc003xye.2_Missense_Mutation_p.G736E|SULF1_uc003xyf.2_Missense_Mutation_p.G736E|SULF1_uc003xyg.2_Missense_Mutation_p.G736E|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 736 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CAGAGGAAGGGGGAAGAGTGC 0.537 33 34 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77616923 77616923 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:77616923C>G uc003yav.2 + 2 987 c.600C>G c.(598-600)TCC>TCG p.S200S ZFHX4_uc003yat.1_Silent_p.S200S|ZFHX4_uc003yau.1_Silent_p.S200S|ZFHX4_uc003yaw.1_Silent_p.S200S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 200 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCGCTTCATCCCTCGGGAAAC 0.493 HNSCC(33;0.089) 8 60 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77766955 77766955 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:77766955G>A uc003yav.2 + 10 8050 c.7663G>A c.(7663-7665)GAA>AAA p.E2555K ZFHX4_uc003yau.1_Missense_Mutation_p.E2600K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E2555K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2555 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAATAGCGGTGAAGACCAACA 0.448 HNSCC(33;0.089) 33 67 --- --- --- --- PASS CALB1 793 broad.mit.edu 37 8 91072419 91072419 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:91072419G>C uc003yel.1 - 11 950 c.768C>G c.(766-768)CTC>CTG p.L256L CALB1_uc011lge.1_Silent_p.L199L NM_004929 NP_004920 P05937 CALB1_HUMAN calbindin 1 256 nucleus calcium ion binding|vitamin D binding pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.00953) CCCCAGCACAGAGAATAAGAG 0.408 48 96 --- --- --- --- PASS KIAA1429 25962 broad.mit.edu 37 8 95538842 95538842 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:95538842C>G uc003ygo.1 - 8 1643 c.1630G>C c.(1630-1632)GTG>CTG p.V544L KIAA1429_uc003ygp.2_Missense_Mutation_p.V544L|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 544 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ACAACCCTCACAGTCTGATCT 0.378 15 154 --- --- --- --- PASS INTS8 55656 broad.mit.edu 37 8 95848775 95848775 + Silent SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:95848775A>T uc003yhb.2 + 7 903 c.777A>T c.(775-777)GCA>GCT p.A259A INTS8_uc003yha.1_Silent_p.A259A|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.A86A NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 259 TPR 1. snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TGGGCGCAGCATACTTCCAGC 0.373 39 57 --- --- --- --- PASS KCNS2 3788 broad.mit.edu 37 8 99440426 99440426 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:99440426C>A uc003yin.2 + 2 569 c.219C>A c.(217-219)CGC>CGA p.R73R NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 73 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) ACTTCGACCGCAACCCTGAGC 0.592 21 61 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100133616 100133616 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:100133616G>C uc003yiv.2 + 8 1260 c.1149G>C c.(1147-1149)TTG>TTC p.L383F VPS13B_uc003yiw.2_Missense_Mutation_p.L383F|VPS13B_uc003yit.2_Missense_Mutation_p.L383F|VPS13B_uc003yiu.1_Missense_Mutation_p.L383F|VPS13B_uc003yis.2_Missense_Mutation_p.L383F|VPS13B_uc011lgy.1_Missense_Mutation_p.L259F NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 383 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CACAGACTTTGAAGGATCCTA 0.398 12 80 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110523031 110523031 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:110523031T>A uc003yne.2 + 71 11525 c.11421T>A c.(11419-11421)GCT>GCA p.A3807A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3807 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) GCTGGTGTGCTGGATATACAT 0.403 HNSCC(38;0.096) 58 43 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113317125 113317125 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:113317125G>A uc003ynu.2 - 52 8250 c.8091C>T c.(8089-8091)ATC>ATT p.I2697I CSMD3_uc003yns.2_Silent_p.I1899I|CSMD3_uc003ynt.2_Silent_p.I2657I|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2697 Extracellular (Potential).|Sushi 16. 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 TAAAGGAATTGATGCTTGGAC 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 6 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113599332 113599332 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:113599332G>C uc003ynu.2 - 23 4007 c.3848C>G c.(3847-3849)GCC>GGC p.A1283G CSMD3_uc003yns.2_Missense_Mutation_p.A555G|CSMD3_uc003ynt.2_Missense_Mutation_p.A1243G|CSMD3_uc011lhx.1_Missense_Mutation_p.A1179G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1283 Extracellular (Potential).|CUB 7. 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 AAATGTTCTGGCTGAAATATT 0.313 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 28 --- --- --- --- PASS HAS2 3037 broad.mit.edu 37 8 122641427 122641427 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:122641427A>T uc003yph.2 - 2 692 c.154T>A c.(154-156)TTT>ATT p.F52I NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 52 Helical; Name=2; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GATGCCAAAAAGGCACCATAC 0.408 50 62 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125058105 125058105 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:125058105C>A uc003yqw.2 + 21 2893 c.2687C>A c.(2686-2688)CCC>CAC p.P896H NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 896 Cytoplasmic (Potential).|C2 3. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAGTCCCCGCCCTTAGTGGTG 0.552 20 153 --- --- --- --- PASS TMEM71 137835 broad.mit.edu 37 8 133740110 133740110 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:133740110T>A uc003ytp.2 - 6 836 c.607A>T c.(607-609)AGC>TGC p.S203C TMEM71_uc003ytm.1_Missense_Mutation_p.S25C|TMEM71_uc003ytn.2_Missense_Mutation_p.S185C|TMEM71_uc003yto.2_Intron NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 204 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AGAGACAAGCTATGGGAGTTT 0.473 33 64 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133900481 133900481 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:133900481G>C uc003ytw.2 + 10 2470 c.2429G>C c.(2428-2430)AGA>ACA p.R810T NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 810 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATGAGCTACAGAGAAGCAGCT 0.517 8 25 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133905937 133905937 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:133905937C>A uc003ytw.2 + 11 2805 c.2764C>A c.(2764-2766)CCT>ACT p.P922T NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 922 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCCCCTAGGTCCTGGCTCCTG 0.463 7 46 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139696707 139696707 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:139696707G>C uc003yvd.2 - 39 3420 c.2973C>G c.(2971-2973)CTC>CTG p.L991L COL22A1_uc011ljo.1_Silent_p.L291L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 991 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTGATCCACGGAGTCCCTGGA 0.532 HNSCC(7;0.00092) 24 32 --- --- --- --- PASS DENND3 22898 broad.mit.edu 37 8 142146830 142146830 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:142146830G>C uc003yvy.2 + 2 363 c.85G>C c.(85-87)GAG>CAG p.E29Q DENND3_uc003yvw.1_Missense_Mutation_p.E42Q|DENND3_uc003yvx.2_Missense_Mutation_p.E109Q|DENND3_uc010mep.2_Missense_Mutation_p.E42Q NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 29 UDENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GCCAGAGCCTGAGGATGTCGC 0.662 3 4 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143570401 143570401 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:143570401G>A uc003ywm.2 + 14 2641 c.2458G>A c.(2458-2460)GAT>AAT p.D820N NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 820 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TCCAGAGGCCGATGAAGCATC 0.662 11 12 --- --- --- --- PASS GLI4 2738 broad.mit.edu 37 8 144358654 144358654 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:144358654G>A uc003yxx.2 + 4 896 c.811G>A c.(811-813)GAG>AAG p.E271K ZFP41_uc003yxv.2_RNA NM_138465 NP_612474 P10075 GLI4_HUMAN GLI-Kruppel family member GLI4 271 C2H2-type 4. nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CAAGTGCGGCGAGTGCGGCCA 0.682 17 39 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144892670 144892670 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:144892670C>G uc003yzp.1 - 13 1516 c.1509G>C c.(1507-1509)GGG>GGC p.G503G SCRIB_uc003yzo.1_Silent_p.G503G NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 503 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCAAGGGCGACCCAGAGTCTG 0.697 5 38 --- --- --- --- PASS PPAPDC2 403313 broad.mit.edu 37 9 4663258 4663258 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:4663258C>G uc003zin.2 + 1 961 c.883C>G c.(883-885)CGA>GGA p.R295G C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron NM_203453 NP_982278 Q8IY26 PPAC2_HUMAN phosphatidic acid phosphatase type 2 domain 295 integral to membrane hydrolase activity 0 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.026) GTGGAGTCAACGATGACACCA 0.483 35 51 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14842506 14842506 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:14842506G>A uc003zlm.2 - 9 2136 c.1546C>T c.(1546-1548)CCC>TCC p.P516S FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 516 CSPG 3. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TCATCTTTGGGCAAGACGTTG 0.502 40 58 --- --- --- --- PASS FAM154A 158297 broad.mit.edu 37 9 18928832 18928832 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:18928832G>C uc003zni.1 - 4 921 c.643C>G c.(643-645)CCC>GCC p.P215A FAM154A_uc010mip.1_Missense_Mutation_p.P23A NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 215 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) TTCTCCACGGGGTGGGCCACA 0.502 24 32 --- --- --- --- PASS DNAJB5 25822 broad.mit.edu 37 9 34996700 34996700 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:34996700G>A uc003zvt.2 + 3 788 c.650G>A c.(649-651)CGT>CAT p.R217H DNAJB5_uc003zvs.2_Missense_Mutation_p.R251H|DNAJB5_uc011los.1_Missense_Mutation_p.R289H NM_012266 NP_036398 O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 217 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding 0 LUSC - Lung squamous cell carcinoma(32;0.00575) GTCATCAAGCGTGGCTGGAAG 0.562 12 35 --- --- --- --- PASS KIAA1539 80256 broad.mit.edu 37 9 35108045 35108045 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:35108045G>A uc003zwl.2 - 3 552 c.227C>T c.(226-228)CCC>CTC p.P76L KIAA1539_uc003zwm.2_Missense_Mutation_p.P76L|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.P76L|KIAA1539_uc003zwp.1_Missense_Mutation_p.P76L|KIAA1539_uc010mkk.1_Intron NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 76 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CAGCTCCCGGGGACCCTCAGT 0.637 5 35 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77455096 77455096 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:77455096C>T uc004ajl.1 - 5 626 c.388G>A c.(388-390)GAG>AAG p.E130K TRPM6_uc004ajk.1_Missense_Mutation_p.E125K|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.E130K|TRPM6_uc010mpd.1_Missense_Mutation_p.E130K|TRPM6_uc010mpe.1_Missense_Mutation_p.E130K|TRPM6_uc004ajn.1_Missense_Mutation_p.E130K NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 130 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 ATTTTCCACTCTTTCAACATT 0.363 19 17 --- --- --- --- PASS PCSK5 5125 broad.mit.edu 37 9 78686749 78686749 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:78686749G>T uc004ajz.2 + 7 1367 c.829G>T c.(829-831)GAT>TAT p.D277Y PCSK5_uc004ajy.2_Missense_Mutation_p.D277Y|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 277 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 CCCGGATGATGATGGCAAGAC 0.532 22 98 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79322998 79322998 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:79322998C>A uc010mpk.2 - 8 4316 c.4192G>T c.(4192-4194)GAG>TAG p.E1398* NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1398 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AAAACTTCCTCTGGTTCCTCG 0.458 17 21 --- --- --- --- PASS CEP78 84131 broad.mit.edu 37 9 80856685 80856685 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:80856685G>A uc004akx.2 + 4 849 c.573G>A c.(571-573)CAG>CAA p.Q191Q CEP78_uc004aky.3_Silent_p.Q191Q|CEP78_uc010mpp.2_Silent_p.Q191Q|CEP78_uc011lsp.1_Silent_p.Q104Q NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 191 G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 TGACATGGCAGGGAGCAGATC 0.343 8 54 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84607342 84607342 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:84607342C>G uc004amn.2 + 4 2004 c.1957C>G c.(1957-1959)CCA>GCA p.P653A NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 653 integral to membrane 0 CTTTTGTCCTCCAGCTCCCAA 0.463 22 43 --- --- --- --- PASS AGTPBP1 23287 broad.mit.edu 37 9 88203362 88203362 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:88203362C>A uc011ltd.1 - 20 2787 c.2754G>T c.(2752-2754)CGG>CGT p.R918R AGTPBP1_uc004aod.3_Silent_p.R544R|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.R878R|AGTPBP1_uc011lte.1_Silent_p.R930R NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 918 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 CAGGATGTACCCGAGCAGACA 0.378 14 24 --- --- --- --- PASS ASPN 54829 broad.mit.edu 37 9 95219630 95219630 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:95219630A>G uc004ase.1 - 8 1327 c.1083T>C c.(1081-1083)CCT>CCC p.P361P CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR NM_017680 NP_060150 Q9BXN1 ASPN_HUMAN asporin precursor 361 LRR 11. bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding 0 GAAATGTTGCAGGTTGCATTT 0.353 12 34 --- --- --- --- PASS FAM120AOS 158293 broad.mit.edu 37 9 96212824 96212824 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:96212824G>A uc004atu.3 - 2 1504 c.621C>T c.(619-621)CCC>CCT p.P207P FAM120AOS_uc004atm.2_RNA|FAM120AOS_uc004atn.3_RNA|FAM120AOS_uc004ato.3_RNA|FAM120AOS_uc004atp.3_RNA|FAM120AOS_uc004atq.3_RNA|FAM120AOS_uc004atr.3_RNA|FAM120AOS_uc004ats.3_RNA|FAM120AOS_uc004att.3_RNA|FAM120A_uc004atv.2_5'Flank|FAM120A_uc004atw.2_5'Flank NM_198841 NP_942138 Q5T036 F120S_HUMAN hypothetical protein LOC158293 207 0 TCCATGTGCTGGGCAGCAGCT 0.507 9 34 --- --- --- --- PASS HABP4 22927 broad.mit.edu 37 9 99228025 99228025 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:99228025T>C uc010msg.2 + 4 856 c.708T>C c.(706-708)TGT>TGC p.C236C HABP4_uc010msh.2_Intron NM_014282 NP_055097 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 236 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding ovary(1) 1 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) TGGGTGGATGTGGAGTTCGAA 0.453 4 17 --- --- --- --- PASS PPP3R2 5535 broad.mit.edu 37 9 104356946 104356946 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:104356946G>A uc004bbr.2 - 1 338 c.267C>T c.(265-267)GGC>GGT p.G89G GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 86 calcium ion binding p.G89C(1) ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GCTCCTCGTCGCCCTTGACGC 0.537 17 71 --- --- --- --- PASS CYLC2 1539 broad.mit.edu 37 9 105767520 105767520 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:105767520G>T uc004bbs.2 + 5 677 c.607G>T c.(607-609)GCA>TCA p.A203S NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 203 3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|2. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) CAAAGACTCGGCAACAGAATC 0.239 26 67 --- --- --- --- PASS OR13D1 286365 broad.mit.edu 37 9 107457200 107457200 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:107457200C>A uc011lvs.1 + 1 498 c.498C>A c.(496-498)ATC>ATA p.I166I NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 166 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGTACTCCATCATCATGAACG 0.517 15 53 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107576733 107576733 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:107576733C>G uc004bcl.2 - 26 4075 c.3762G>C c.(3760-3762)GAG>GAC p.E1254D NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1254 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCACCCCACTCTCTTCGGCCA 0.458 5 19 --- --- --- --- PASS ACTL7A 10881 broad.mit.edu 37 9 111625099 111625099 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:111625099C>T uc004bdj.1 + 1 497 c.497C>T c.(496-498)GCG>GTG p.A166V NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN actin-like 7A 166 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton 0 GAGGAGCATGCGGTCTTGGTT 0.527 10 27 --- --- --- --- PASS CTNNAL1 8727 broad.mit.edu 37 9 111741743 111741743 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:111741743G>A uc004bdo.1 - 7 961 c.919C>T c.(919-921)CGG>TGG p.R307W CTNNAL1_uc010mts.1_Missense_Mutation_p.R43W|CTNNAL1_uc010mtt.1_Missense_Mutation_p.R307W|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R307W NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 307 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) AGATTCTCCCGAAGAGCTTCA 0.418 4 16 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119582947 119582947 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:119582947G>T uc004bjs.1 - 12 2257 c.2156C>A c.(2155-2157)ACG>AAG p.T719K ASTN2_uc004bjr.1_Missense_Mutation_p.T715K|ASTN2_uc004bjt.1_Missense_Mutation_p.T668K NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 719 Extracellular (Potential).|EGF-like 3. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CAGGGGCAGCGTCTGCTGCAG 0.577 7 30 --- --- --- --- PASS FAM129B 64855 broad.mit.edu 37 9 130279211 130279211 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:130279211C>A uc004brh.2 - 8 1100 c.898G>T c.(898-900)GCC>TCC p.A300S FAM129B_uc004bri.2_Missense_Mutation_p.A287S|FAM129B_uc004brj.3_Missense_Mutation_p.A300S NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 300 protein binding 0 GCCTGCATGGCCGGCTGCACC 0.622 27 103 --- --- --- --- PASS FAM129B 64855 broad.mit.edu 37 9 130279214 130279214 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:130279214G>C uc004brh.2 - 8 1097 c.895C>G c.(895-897)CCG>GCG p.P299A FAM129B_uc004bri.2_Missense_Mutation_p.P286A|FAM129B_uc004brj.3_Missense_Mutation_p.P299A NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 299 protein binding 0 TGCATGGCCGGCTGCACCTGC 0.622 28 103 --- --- --- --- PASS C9orf117 286207 broad.mit.edu 37 9 130473730 130473730 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:130473730G>A uc004brn.1 + 4 850 c.810G>A c.(808-810)GAG>GAA p.E270E PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA NM_001012502 NP_001012520 Q5JU67 CI117_HUMAN hypothetical protein LOC286207 270 Potential. 0 AGCTGCTGGAGAACACCCAGA 0.587 45 28 --- --- --- --- PASS USP20 10868 broad.mit.edu 37 9 132623876 132623876 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:132623876A>C uc004bys.2 + 8 693 c.482A>C c.(481-483)CAG>CCG p.Q161P USP20_uc004byr.2_Missense_Mutation_p.Q161P|USP20_uc004byt.1_Missense_Mutation_p.Q161P NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 161 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) GCTGCCCTGCAGGCCCTGTCC 0.622 19 20 --- --- --- --- PASS NUP214 8021 broad.mit.edu 37 9 134049561 134049561 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:134049561G>C uc004cag.2 + 22 3124 c.3013G>C c.(3013-3015)GAT>CAT p.D1005H NUP214_uc004cah.2_Missense_Mutation_p.D995H|NUP214_uc004cai.2_Missense_Mutation_p.D435H|NUP214_uc004caf.1_Missense_Mutation_p.D994H|NUP214_uc010mzf.2_Missense_Mutation_p.D303H NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 1005 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GTCCTGTAAAGATGACGAGGC 0.537 T DEK|SET|ABL1 AML|T-ALL 13 53 --- --- --- --- PASS RPL7A 6130 broad.mit.edu 37 9 136216887 136216887 + Missense_Mutation SNP G C C rs11549063 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:136216887G>C uc004cde.1 + 4 425 c.395G>C c.(394-396)AGA>ACA p.R132T MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_5'UTR|SNORD36B_uc010nai.1_5'Flank|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank NM_000972 NP_000963 P62424 RL7A_HUMAN ribosomal protein L7a 132 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome RNA binding|structural constituent of ribosome 0 OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05) CCAACGAAGAGACCACCTGTC 0.552 23 18 --- --- --- --- PASS SNAPC4 6621 broad.mit.edu 37 9 139288772 139288772 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:139288772C>T uc004chh.2 - 6 570 c.561G>A c.(559-561)TGG>TGA p.W187* NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 187 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AGGCCTTTTCCCAGTTTTTCC 0.552 22 33 --- --- --- --- PASS FAM166A 401565 broad.mit.edu 37 9 140139971 140139971 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:140139971G>A uc004cmi.1 - 3 365 c.310C>T c.(310-312)CTC>TTC p.L104F NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 104 ovary(1) 1 AAGGGTGGGAGCTGGCCCAGA 0.642 39 28 --- --- --- --- PASS C9orf173 441476 broad.mit.edu 37 9 140146505 140146505 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr9:140146505C>G uc004cmk.1 + 3 330 c.318C>G c.(316-318)ACC>ACG p.T106T C9orf173_uc004cmj.1_Silent_p.T107T|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_Intron|C9orf173_uc011mev.1_Silent_p.T106T|C9orf173_uc004cml.1_Silent_p.T106T Q8N7X2 CI173_HUMAN SubName: Full=LOC441476 protein; 107 pancreas(1) 1 CCAGCCCCACCAGGTACCAGG 0.672 9 7 --- --- --- --- PASS DHTKD1 55526 broad.mit.edu 37 10 12159705 12159705 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:12159705G>T uc001ild.3 + 14 2452 c.2353G>T c.(2353-2355)GGA>TGA p.G785* NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 785 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) AATGGCACCAGGAACAACATT 0.428 5 69 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16981039 16981039 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:16981039C>A uc001ioo.2 - 38 5708 c.5656G>T c.(5656-5658)GCA>TCA p.A1886S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1886 CUB 13. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACGTGAGATGCATTCACATTT 0.393 13 26 --- --- --- --- PASS ST8SIA6 338596 broad.mit.edu 37 10 17373464 17373464 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:17373464C>A uc001ipd.2 - 5 465 c.465G>T c.(463-465)GAG>GAT p.E155D ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 155 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 TGCTTTCCACCTCGTAACTCA 0.383 16 23 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18242259 18242259 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:18242259C>A uc001ipo.2 + 2 327 c.54C>A c.(52-54)CTC>CTA p.L18L SLC39A12_uc001ipn.2_Silent_p.L18L|SLC39A12_uc001ipp.2_Silent_p.L18L|SLC39A12_uc010qck.1_Intron NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 18 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TTCTTCTACTCAGCCGTGTTT 0.527 26 46 --- --- --- --- PASS PIP4K2A 5305 broad.mit.edu 37 10 23003205 23003205 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:23003205C>G uc001irl.3 - 1 299 c.51G>C c.(49-51)AAG>AAC p.K17N NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 17 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 TCTTCTTGGTCTTGGTCTTGC 0.647 7 14 --- --- --- --- PASS ARHGAP21 57584 broad.mit.edu 37 10 24874831 24874831 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:24874831C>T uc001isb.2 - 26 4874 c.4387G>A c.(4387-4389)GAG>AAG p.E1463K ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1462 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 CCCAGTGTCTCACTTTCTTTT 0.388 28 45 --- --- --- --- PASS PARD3 56288 broad.mit.edu 37 10 34573173 34573173 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:34573173C>A uc010qej.1 - 21 3075 c.3075G>T c.(3073-3075)AGG>AGT p.R1025S PARD3_uc010qek.1_Missense_Mutation_p.R1022S|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Missense_Mutation_p.R1009S|PARD3_uc010qen.1_Missense_Mutation_p.R979S|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Missense_Mutation_p.R935S|PARD3_uc010qeq.1_Intron NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1025 Lys-rich. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) GTTTGCCAAACCTGTTAATAA 0.323 11 76 --- --- --- --- PASS CREM 1390 broad.mit.edu 37 10 35467822 35467822 + Silent SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:35467822A>T uc001iyb.2 + 4 336 c.174A>T c.(172-174)GCA>GCT p.A58A CREM_uc001ixx.2_Silent_p.A42A|CREM_uc001ixy.2_Intron|CREM_uc001ixz.2_Intron|CREM_uc001iya.2_Silent_p.A58A|CREM_uc001iyc.2_Silent_p.A42A|CREM_uc001iyd.2_Silent_p.A58A|CREM_uc001iye.2_Silent_p.A58A|CREM_uc001iyf.2_Silent_p.A28A|CREM_uc001iyg.2_Silent_p.A28A|CREM_uc001iyh.2_Silent_p.A3A|CREM_uc001iyi.2_Silent_p.A3A|CREM_uc001iyj.2_5'UTR|CREM_uc001iyk.2_5'UTR NM_181571 NP_853549 Q03060 CREM_HUMAN cAMP responsive element modulator isoform a 107 KID. cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TATAGGTAGCAGCAATTGCAG 0.358 6 22 --- --- --- --- PASS ZNF25 219749 broad.mit.edu 37 10 38246038 38246038 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:38246038G>A uc001ize.1 - 4 253 c.148C>T c.(148-150)CAT>TAT p.H50Y ZNF25_uc001izf.1_Missense_Mutation_p.H14Y NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TTATTCACATGGTAACCTATG 0.388 6 37 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38343517 38343517 + Missense_Mutation SNP G T T rs141144828 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:38343517G>T uc001izh.2 + 5 640 c.462G>T c.(460-462)TTG>TTT p.L154F ZNF33A_uc001izg.2_Missense_Mutation_p.L155F|ZNF33A_uc010qev.1_Missense_Mutation_p.L161F|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 154 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TTTCAGAATTGGTTATCAGTA 0.323 13 56 --- --- --- --- PASS ZNF33B 7582 broad.mit.edu 37 10 43088981 43088981 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:43088981C>A uc001jaf.1 - 5 1532 c.1417G>T c.(1417-1419)GAG>TAG p.E473* ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.E361*|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 473 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTCCCACACTCAAGACATTCA 0.378 15 38 --- --- --- --- PASS RASSF4 83937 broad.mit.edu 37 10 45486418 45486418 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:45486418C>T uc001jbo.2 + 9 842 c.708C>T c.(706-708)TGC>TGT p.C236C RASSF4_uc001jbp.2_Silent_p.C267C|RASSF4_uc009xmn.2_Silent_p.C166C|RASSF4_uc001jbq.2_Silent_p.C133C|RASSF4_uc001jbt.2_Silent_p.C193C NM_032023 NP_114412 Q9H2L5 RASF4_HUMAN Ras association domain family 4 236 Ras-associating. cell cycle|signal transduction protein binding large_intestine(1) 1 TAAAAGACTGCGAGTACCCGC 0.473 10 65 --- --- --- --- PASS OR13A1 79290 broad.mit.edu 37 10 45799210 45799210 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:45799210C>A uc001jcc.1 - 4 970 c.661G>T c.(661-663)GAT>TAT p.D221Y OR13A1_uc001jcd.1_Missense_Mutation_p.D217Y NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 221 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAGAAAGCATCCGCCAGGACA 0.547 9 56 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48389621 48389621 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:48389621C>G uc001jez.2 - 1 1371 c.1257G>C c.(1255-1257)GAG>GAC p.E419D NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 419 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GCCGGATAGCCTCGTCCTCAG 0.637 4 27 --- --- --- --- PASS C10orf71 118461 broad.mit.edu 37 10 50531521 50531521 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:50531521T>C uc010qgp.1 + 3 1270 c.931T>C c.(931-933)TTG>CTG p.L311L NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 311 0 GGACACGACCTTGCTAAGAGA 0.572 7 51 --- --- --- --- PASS DRGX 644168 broad.mit.edu 37 10 50574366 50574366 + Missense_Mutation SNP T G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:50574366T>G uc010qgq.1 - 6 602 c.602A>C c.(601-603)TAT>TCT p.Y201S NM_001080520 NP_001073989 A6NNA5 DRGX_HUMAN dorsal root ganglia homeobox 201 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGGCAGCCATAGGTGGGAAG 0.612 11 17 --- --- --- --- PASS A1CF 29974 broad.mit.edu 37 10 52566514 52566514 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:52566514C>T uc001jjj.2 - 13 1948 c.1760G>A c.(1759-1761)CGA>CAA p.R587Q A1CF_uc010qhn.1_Missense_Mutation_p.R587Q|A1CF_uc001jji.2_Missense_Mutation_p.R579Q|A1CF_uc001jjh.2_Missense_Mutation_p.R587Q|A1CF_uc010qho.1_Missense_Mutation_p.R595Q|A1CF_uc009xov.2_Missense_Mutation_p.R579Q NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 587 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TCCATCCCCTCGGGCAGTCAC 0.418 10 37 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55587246 55587246 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:55587246G>C uc001jju.1 - 32 4669 c.4274C>G c.(4273-4275)GCA>GGA p.A1425G PCDH15_uc010qhq.1_Missense_Mutation_p.A1430G|PCDH15_uc010qhr.1_Missense_Mutation_p.A1425G|PCDH15_uc010qhs.1_Missense_Mutation_p.A1437G|PCDH15_uc010qht.1_Missense_Mutation_p.A1432G|PCDH15_uc010qhu.1_Missense_Mutation_p.A1425G|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1422G|PCDH15_uc010qhw.1_Missense_Mutation_p.A1385G|PCDH15_uc010qhx.1_Missense_Mutation_p.A1354G|PCDH15_uc010qhy.1_Missense_Mutation_p.A1430G|PCDH15_uc010qhz.1_Missense_Mutation_p.A1425G|PCDH15_uc010qia.1_Missense_Mutation_p.A1403G|PCDH15_uc010qib.1_Missense_Mutation_p.A1400G NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1425 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGCCGGCACTGCTGGTTTAGC 0.418 HNSCC(58;0.16) 3 25 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55839174 55839174 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:55839174G>A uc001jju.1 - 17 2403 c.2008C>T c.(2008-2010)CTA>TTA p.L670L PCDH15_uc010qhq.1_Silent_p.L675L|PCDH15_uc010qhr.1_Silent_p.L670L|PCDH15_uc010qhs.1_Silent_p.L682L|PCDH15_uc010qht.1_Silent_p.L677L|PCDH15_uc010qhu.1_Silent_p.L670L|PCDH15_uc001jjv.1_Silent_p.L648L|PCDH15_uc010qhv.1_Silent_p.L670L|PCDH15_uc010qhw.1_Silent_p.L633L|PCDH15_uc010qhx.1_Silent_p.L599L|PCDH15_uc010qhy.1_Silent_p.L675L|PCDH15_uc010qhz.1_Silent_p.L670L|PCDH15_uc010qia.1_Silent_p.L648L|PCDH15_uc010qib.1_Silent_p.L648L|PCDH15_uc001jjw.2_Silent_p.L670L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 670 Cadherin 6.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CCTAAGGTTAGAATCCCCGTG 0.423 HNSCC(58;0.16) 25 116 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55973758 55973758 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:55973758C>G uc001jju.1 - 10 1431 c.1036G>C c.(1036-1038)GAA>CAA p.E346Q PCDH15_uc010qhq.1_Missense_Mutation_p.E351Q|PCDH15_uc010qhr.1_Missense_Mutation_p.E346Q|PCDH15_uc010qhs.1_Missense_Mutation_p.E351Q|PCDH15_uc010qht.1_Missense_Mutation_p.E346Q|PCDH15_uc010qhu.1_Missense_Mutation_p.E346Q|PCDH15_uc001jjv.1_Missense_Mutation_p.E324Q|PCDH15_uc010qhv.1_Missense_Mutation_p.E346Q|PCDH15_uc010qhw.1_Missense_Mutation_p.E309Q|PCDH15_uc010qhx.1_Missense_Mutation_p.E346Q|PCDH15_uc010qhy.1_Missense_Mutation_p.E351Q|PCDH15_uc010qhz.1_Missense_Mutation_p.E346Q|PCDH15_uc010qia.1_Missense_Mutation_p.E324Q|PCDH15_uc010qib.1_Missense_Mutation_p.E324Q|PCDH15_uc001jjw.2_Missense_Mutation_p.E346Q NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 346 Cadherin 3.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGACTAAGTTCTGCTGTCCTA 0.358 HNSCC(58;0.16) 21 68 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 56106233 56106233 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:56106233A>G uc001jju.1 - 6 881 c.486T>C c.(484-486)GTT>GTC p.V162V PCDH15_uc010qhq.1_Silent_p.V167V|PCDH15_uc010qhr.1_Silent_p.V162V|PCDH15_uc010qhs.1_Silent_p.V167V|PCDH15_uc010qht.1_Silent_p.V162V|PCDH15_uc010qhu.1_Silent_p.V162V|PCDH15_uc001jjv.1_Silent_p.V140V|PCDH15_uc010qhv.1_Silent_p.V162V|PCDH15_uc010qhw.1_Silent_p.V162V|PCDH15_uc010qhx.1_Silent_p.V162V|PCDH15_uc010qhy.1_Silent_p.V167V|PCDH15_uc010qhz.1_Silent_p.V162V|PCDH15_uc010qia.1_Silent_p.V140V|PCDH15_uc010qib.1_Silent_p.V140V|PCDH15_uc001jjw.2_Silent_p.V162V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 162 Extracellular (Potential).|Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTGTGGTACCAACTGGAGTGA 0.338 HNSCC(58;0.16) 31 95 --- --- --- --- PASS RTKN2 219790 broad.mit.edu 37 10 63983069 63983069 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:63983069C>A uc001jlw.2 - 7 806 c.709G>T c.(709-711)GCT>TCT p.A237S RTKN2_uc009xpf.1_Missense_Mutation_p.A18S NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 237 signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) GTAGTGTGAGCTAGCAAATTA 0.284 5 69 --- --- --- --- PASS JMJD1C 221037 broad.mit.edu 37 10 64943277 64943277 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:64943277T>C uc001jmn.2 - 22 7314 c.7014A>G c.(7012-7014)GAA>GAG p.E2338E JMJD1C_uc001jml.2_Silent_p.E2101E|JMJD1C_uc001jmm.2_Silent_p.E2050E|JMJD1C_uc010qiq.1_Silent_p.E2156E|JMJD1C_uc009xpi.2_Silent_p.E2156E|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Silent_p.E245E NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2338 JmjC. Iron; catalytic (By similarity). blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CATCAGAAACTTCAATATGGA 0.279 29 70 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69926318 69926318 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:69926318C>T uc001jnm.3 + 11 2053 c.1868C>T c.(1867-1869)ACC>ATC p.T623I MYPN_uc001jnl.1_Missense_Mutation_p.T623I|MYPN_uc001jnn.3_Missense_Mutation_p.T348I|MYPN_uc001jno.3_Missense_Mutation_p.T623I|MYPN_uc009xps.2_Missense_Mutation_p.T623I|MYPN_uc009xpt.2_Missense_Mutation_p.T623I|MYPN_uc010qit.1_Missense_Mutation_p.T329I|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 623 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 ACCAGACAGACCAGGCCCGAT 0.567 6 73 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69961673 69961673 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:69961673G>A uc001jnm.3 + 19 3766 c.3581G>A c.(3580-3582)CGC>CAC p.R1194H MYPN_uc001jnn.3_Missense_Mutation_p.R919H|MYPN_uc001jno.3_Missense_Mutation_p.R1194H|MYPN_uc009xpt.2_Missense_Mutation_p.R1194H|MYPN_uc010qit.1_Missense_Mutation_p.R900H|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1194 Interaction with ACTN.|Ig-like 5. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CTGGAGTGCCGCGTGATAGGC 0.547 14 126 --- --- --- --- PASS DDX21 9188 broad.mit.edu 37 10 70719870 70719870 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:70719870G>A uc001jov.1 + 2 486 c.396G>A c.(394-396)AAG>AAA p.K132K DDX21_uc001jow.1_Silent_p.K64K NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 132 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 AGCCCAAGAAGATGAAGAAAG 0.408 16 57 --- --- --- --- PASS SRGN 5552 broad.mit.edu 37 10 70863695 70863695 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:70863695G>T uc001joz.2 + 3 382 c.296G>T c.(295-297)GGC>GTC p.G99V NM_002727 NP_002718 P10124 SRGN_HUMAN serglycin precursor 99 3.|9 X 2 AA tandem repeats of [SF]-G. apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen 0 TCAGGCTTCGGCTCCGGCTCC 0.468 7 49 --- --- --- --- PASS TYSND1 219743 broad.mit.edu 37 10 71899758 71899758 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:71899758C>G uc001jqr.2 - 4 1777 c.1623G>C c.(1621-1623)CTG>CTC p.L541L TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_3'UTR|TYSND1_uc001jqt.2_RNA NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 isoform a 541 proteolysis peroxisome serine-type endopeptidase activity large_intestine(1) 1 CAGCGCGGTCCAGCTCACGGA 0.652 9 59 --- --- --- --- PASS SAR1A 56681 broad.mit.edu 37 10 71917543 71917543 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:71917543C>A uc010qjh.1 - 6 528 c.325G>T c.(325-327)GTG>TTG p.V109L SAR1A_uc010qji.1_Missense_Mutation_p.V109L|SAR1A_uc010qjj.1_Missense_Mutation_p.V66L NM_001142648 NP_001136120 Q9NR31 SAR1A_HUMAN SAR1a gene homolog 1 109 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity 0 TTGGATTCCACGAGGCGAGAA 0.338 29 48 --- --- --- --- PASS ADAMTS14 140766 broad.mit.edu 37 10 72503416 72503416 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:72503416C>G uc001jrh.2 + 13 2037 c.2037C>G c.(2035-2037)GTC>GTG p.V679V ADAMTS14_uc001jrg.2_Silent_p.V682V|ADAMTS14_uc001jri.1_Silent_p.V202V NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 679 Cys-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 CATACAGCGTCTGTGCGCGTG 0.657 8 15 --- --- --- --- PASS UNC5B 219699 broad.mit.edu 37 10 73046577 73046577 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:73046577G>C uc001jro.2 + 5 1129 c.684G>C c.(682-684)AAG>AAC p.K228N UNC5B_uc001jrp.2_Missense_Mutation_p.K228N NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 228 Ig-like C2-type.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 GCGTGGCCAAGAACATCGTGG 0.637 42 139 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73501524 73501524 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:73501524C>G uc001jrx.3 + 36 5068 c.4691C>G c.(4690-4692)TCC>TGC p.S1564C CDH23_uc001jsc.1_Missense_Mutation_p.S371C NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1564 Cadherin 15.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 AGTGTTCTGTCCTACTACATC 0.617 11 27 --- --- --- --- PASS TTC18 118491 broad.mit.edu 37 10 75013743 75013743 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:75013743G>A uc009xrc.2 - 28 3477 c.3356C>T c.(3355-3357)CCA>CTA p.P1119L TTC18_uc001jty.2_Missense_Mutation_p.P1119L|MRPS16_uc010qkh.1_5'Flank|MRPS16_uc001jts.1_5'Flank|MRPS16_uc001jtt.1_5'Flank|uc001jtu.1_RNA|TTC18_uc001jtv.3_Missense_Mutation_p.P223L|TTC18_uc001jtw.3_Missense_Mutation_p.P193L|TTC18_uc001jtx.2_Missense_Mutation_p.P470L NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 1119 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) TCAGAAAGATGGATTTCCAAA 0.448 7 96 --- --- --- --- PASS KIAA0913 23053 broad.mit.edu 37 10 75550015 75550015 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:75550015G>T uc009xrl.2 + 7 938 c.906G>T c.(904-906)CTG>CTT p.L302L KIAA0913_uc001jve.2_Silent_p.L302L|KIAA0913_uc001jvf.2_Silent_p.L302L|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 302 zinc ion binding breast(1) 1 Prostate(51;0.0112) AAAAGACACTGCACAAGTTCT 0.552 10 182 --- --- --- --- PASS POLR3A 11128 broad.mit.edu 37 10 79777381 79777381 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:79777381C>A uc001jzn.2 - 10 1477 c.1383G>T c.(1381-1383)CTG>CTT p.L461L NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 461 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GCCGATTGAACAGCACCACAT 0.438 14 105 --- --- --- --- PASS SFTPA1 653509 broad.mit.edu 37 10 81373497 81373497 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:81373497C>T uc001kap.2 + 6 496 c.375C>T c.(373-375)CTC>CTT p.L125L SFTPA1_uc001kaq.2_Silent_p.L125L|SFTPA1_uc009xry.2_Silent_p.L140L|SFTPA1_uc001kar.2_Silent_p.L125L|SFTPA1_uc010qlt.1_Silent_p.L66L|SFTPA1_uc009xrz.2_Silent_p.L55L|SFTPA1_uc009xsa.2_Silent_p.L125L|SFTPA1_uc009xsf.2_5'Flank NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 125 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TCTCAGCCCTCAGTCTGCAGG 0.562 65 173 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85968559 85968559 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:85968559G>C uc001kcv.2 + 12 1242 c.1242G>C c.(1240-1242)CTG>CTC p.L414L CDHR1_uc001kcw.2_Silent_p.L414L|CDHR1_uc009xst.2_Silent_p.L173L NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 414 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 AGACAGTCCTGAATGAAGCCC 0.478 7 29 --- --- --- --- PASS GPR120 338557 broad.mit.edu 37 10 95347066 95347066 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:95347066C>G uc010qnt.1 + 4 890 c.834C>G c.(832-834)CTC>CTG p.L278L GPR120_uc010qnu.1_Silent_p.L262L NM_181745 NP_859529 Q5NUL3 O3FA1_HUMAN G protein-coupled receptor 120 278 Cytoplasmic (Potential). negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport integral to membrane|plasma membrane fatty acid binding 0 Colorectal(252;0.122) ACTTCCGGCTCTTCCGCACCC 0.552 26 35 --- --- --- --- PASS ARHGAP19 84986 broad.mit.edu 37 10 99003889 99003889 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:99003889G>A uc001knb.2 - 8 1050 c.1021C>T c.(1021-1023)CAT>TAT p.H341Y ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.H332Y|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.H312Y|ARHGAP19_uc009xvk.2_Missense_Mutation_p.H135Y NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 341 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity 0 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) GACTTAGTATGACATGAAGCT 0.443 10 34 --- --- --- --- PASS DNMBP 23268 broad.mit.edu 37 10 101656026 101656026 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:101656026G>A uc001kqj.2 - 10 3141 c.3049C>T c.(3049-3051)CAG>TAG p.Q1017* DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Nonsense_Mutation_p.Q305*|DNMBP_uc001kqh.2_Nonsense_Mutation_p.Q649* NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 1017 BAR. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GATCTCACCTGAGGAGCAAAG 0.502 10 9 --- --- --- --- PASS TDRD1 56165 broad.mit.edu 37 10 115986958 115986958 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:115986958G>T uc001lbg.1 + 23 3456 c.3303G>T c.(3301-3303)GAG>GAT p.E1101D TDRD1_uc001lbf.2_Missense_Mutation_p.E978D|TDRD1_uc001lbh.1_Missense_Mutation_p.E1088D|TDRD1_uc001lbi.1_Missense_Mutation_p.E1092D|TDRD1_uc010qsc.1_Intron|TDRD1_uc001lbj.2_Missense_Mutation_p.E810D NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1101 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGTCAGTTGAGAAATGTTCTG 0.348 12 31 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 116919865 116919865 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:116919865C>A uc001lcg.2 + 6 1280 c.894C>A c.(892-894)CCC>CCA p.P298P ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.P298P|ATRNL1_uc009xyq.2_Silent_p.P298P NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 298 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) ACGTTAAACCCTTCAGTCCTT 0.363 20 58 --- --- --- --- PASS C10orf96 374355 broad.mit.edu 37 10 118101703 118101703 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:118101703G>C uc001lck.2 + 5 689 c.438G>C c.(436-438)ATG>ATC p.M146I NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 146 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) AAGCAAACATGTTGAAAAGTG 0.254 6 29 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118220751 118220751 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:118220751G>A uc001lcl.3 + 7 858 c.757G>A c.(757-759)GAA>AAA p.E253K NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 253 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) GCCAGGATGTGAAGACTTAAT 0.353 31 14 --- --- --- --- PASS PPAPDC1A 196051 broad.mit.edu 37 10 122273500 122273500 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:122273500G>T uc001lev.1 + 3 595 c.243G>T c.(241-243)AAG>AAT p.K81N PPAPDC1A_uc010qtd.1_Missense_Mutation_p.K81N|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.K81N|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Translation_Start_Site NM_001030059 NP_001025230 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain 81 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1) 1 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) CTGAAATTAAGGAAGCCTTCT 0.408 30 44 --- --- --- --- PASS TACC2 10579 broad.mit.edu 37 10 123846008 123846008 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:123846008G>A uc001lfv.2 + 4 4353 c.3993G>A c.(3991-3993)CGG>CGA p.R1331R TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.R1331R|TACC2_uc010qtv.1_Silent_p.R1331R NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1331 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCCTGGACCGGATGCCACTTC 0.617 6 31 --- --- --- --- PASS GPR26 2849 broad.mit.edu 37 10 125447671 125447671 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:125447671G>C uc001lhh.2 + 3 1062 c.1009G>C c.(1009-1011)GAG>CAG p.E337Q NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 337 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GCCGGTGTCTGAGTGAAGGAC 0.607 12 8 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128150051 128150051 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:128150051G>T uc001ljq.2 - 5 1759 c.1638C>A c.(1636-1638)CCC>CCA p.P546P C10orf90_uc001ljp.2_Silent_p.P402P|C10orf90_uc010qum.1_Silent_p.P643P|C10orf90_uc001ljo.2_RNA NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 546 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CTCCATCGCGGGGTGCTGGCG 0.542 13 11 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128150052 128150052 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:128150052G>T uc001ljq.2 - 5 1758 c.1637C>A c.(1636-1638)CCC>CAC p.P546H C10orf90_uc001ljp.2_Missense_Mutation_p.P402H|C10orf90_uc010qum.1_Missense_Mutation_p.P643H|C10orf90_uc001ljo.2_RNA NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 546 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TCCATCGCGGGGTGCTGGCGA 0.542 13 11 --- --- --- --- PASS DOCK1 1793 broad.mit.edu 37 10 129201358 129201358 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:129201358G>A uc001ljt.2 + 39 3968 c.3904G>A c.(3904-3906)GAG>AAG p.E1302K DOCK1_uc010qun.1_Missense_Mutation_p.E1323K|DOCK1_uc009yaq.2_Missense_Mutation_p.E297K NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1302 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GGAGCTAGCCGAGCAGTATGA 0.423 5 12 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1261425 1261425 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:1261425G>A uc009ycr.1 + 46 5995 c.5869G>A c.(5869-5871)GAG>AAG p.E1957K MUC5B_uc001ltb.2_Missense_Mutation_p.E1267K|MUC5B_uc001lta.2_Missense_Mutation_p.E932K NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1264 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) CTGCACCTATGAGGACAGGAC 0.647 10 13 --- --- --- --- PASS KCNQ1 3784 broad.mit.edu 37 11 2604670 2604670 + Silent SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:2604670A>T uc001lwn.2 + 7 1035 c.927A>T c.(925-927)ACA>ACT p.T309T KCNQ1_uc009ydp.1_Silent_p.T93T|KCNQ1_uc001lwo.2_Silent_p.T182T NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 309 T -> R (in LQT1). 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) TGCAGGTCACAGTCACCACCA 0.612 5 27 --- --- --- --- PASS OR52I2 143502 broad.mit.edu 37 11 4608328 4608328 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:4608328C>T uc010qyh.1 + 1 286 c.286C>T c.(286-288)CTG>TTG p.L96L NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 96 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTGTGTGTTCTGGCTGCTGT 0.493 19 125 --- --- --- --- PASS OR51S1 119692 broad.mit.edu 37 11 4869826 4869826 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:4869826A>G uc010qyo.1 - 1 613 c.613T>C c.(613-615)TAC>CAC p.Y205H NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AATAGGCTGTAGGCTGCACCC 0.537 17 38 --- --- --- --- PASS OR51S1 119692 broad.mit.edu 37 11 4869963 4869963 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:4869963C>T uc010qyo.1 - 1 476 c.476G>A c.(475-477)CGA>CAA p.R159Q NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCCAGGCATCGAAAAGAAAT 0.542 9 50 --- --- --- --- PASS HBB 3043 broad.mit.edu 37 11 5246869 5246869 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:5246869C>A uc001mae.1 - 3 453 c.403G>T c.(403-405)GTG>TTG p.V135L NM_000518 NP_000509 P68871 HBB_HUMAN beta globin 135 V -> E (in North Shore-Caracas; unstable). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) ACACCAGCCACCACTTTCTGA 0.517 Sickle_Cell_Trait 9 24 --- --- --- --- PASS UBQLN3 50613 broad.mit.edu 37 11 5529375 5529375 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:5529375G>T uc001may.1 - 2 1500 c.1414C>A c.(1414-1416)CCT>ACT p.P472T HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 472 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGGCTCAGGGATTCCAGGA 0.542 11 27 --- --- --- --- PASS OR2D3 120775 broad.mit.edu 37 11 6942862 6942862 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:6942862C>A uc010rav.1 + 1 630 c.630C>A c.(628-630)AGC>AGA p.S210R NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 210 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACACTTACAGCACAGAAATGG 0.453 11 15 --- --- --- --- PASS ZNF215 7762 broad.mit.edu 37 11 6977732 6977732 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:6977732T>A uc001mey.2 + 7 2112 c.1524T>A c.(1522-1524)CAT>CAA p.H508Q ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.H270Q|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 508 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TTGTTAAACATCAAAAACTGC 0.358 13 29 --- --- --- --- PASS ZNF215 7762 broad.mit.edu 37 11 6977739 6977739 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:6977739C>A uc001mey.2 + 7 2119 c.1531C>A c.(1531-1533)CTG>ATG p.L511M ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.L273M|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 511 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) ACATCAAAAACTGCATACTCG 0.338 15 25 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7059931 7059931 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:7059931G>T uc001mfb.1 + 2 437 c.114G>T c.(112-114)ATG>ATT p.M38I NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 38 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGGAGACCATGGAACCTGAGC 0.433 9 45 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7059932 7059932 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:7059932G>T uc001mfb.1 + 2 438 c.115G>T c.(115-117)GAA>TAA p.E39* NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 39 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GGAGACCATGGAACCTGAGCA 0.433 9 46 --- --- --- --- PASS OR5P2 120065 broad.mit.edu 37 11 7817698 7817698 + Silent SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:7817698A>T uc001mfp.1 - 1 792 c.792T>A c.(790-792)ACT>ACA p.T264T NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGTTCTGGTCAGTTGAGTAGC 0.488 9 55 --- --- --- --- PASS ST5 6764 broad.mit.edu 37 11 8737282 8737282 + Missense_Mutation SNP C A A rs139182184 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:8737282C>A uc001mgt.2 - 6 1899 c.1713G>T c.(1711-1713)AAG>AAT p.K571N ST5_uc009yfr.2_Missense_Mutation_p.K151N|ST5_uc001mgu.2_Missense_Mutation_p.K151N|ST5_uc001mgv.2_Missense_Mutation_p.K571N|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.K84N NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 571 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GGCTGTGCCTCTTGGGTAATC 0.617 7 25 --- --- --- --- PASS SBF2 81846 broad.mit.edu 37 11 9861114 9861114 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:9861114C>A uc001mib.2 - 26 3524 c.3386G>T c.(3385-3387)AGC>ATC p.S1129I SBF2_uc001mif.3_Missense_Mutation_p.S885I|uc001mig.2_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1129 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) ACGGGAAGAGCTGCCACTTAT 0.473 26 61 --- --- --- --- PASS MRGPRX3 117195 broad.mit.edu 37 11 18158752 18158752 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:18158752G>C uc001mnu.2 + 3 364 c.3G>C c.(1-3)ATG>ATC p.M1I NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 1 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 TTCTGAGCATGGATTCAACCA 0.428 45 64 --- --- --- --- PASS BDNF 627 broad.mit.edu 37 11 27680064 27680064 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:27680064C>T uc010rdu.1 - 2 899 c.48G>A c.(46-48)ATG>ATA p.M16I BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.M16I|BDNF_uc001mrt.2_Missense_Mutation_p.M31I|BDNF_uc010rdw.1_Missense_Mutation_p.M16I|BDNF_uc009yjd.2_Missense_Mutation_p.M16I|BDNF_uc001mru.2_Missense_Mutation_p.M16I|BDNF_uc010rdx.1_Missense_Mutation_p.M16I|BDNF_uc010rdy.1_Missense_Mutation_p.M16I|BDNF_uc009yjg.2_Missense_Mutation_p.M16I|BDNF_uc009yje.2_Missense_Mutation_p.M98I|BDNF_uc009yjf.2_Missense_Mutation_p.M45I|BDNF_uc001mrv.2_Missense_Mutation_p.M16I|BDNF_uc001mrw.3_Missense_Mutation_p.M16I|BDNF_uc001mrx.2_Missense_Mutation_p.M16I|BDNF_uc001mry.3_Missense_Mutation_p.M16I|BDNF_uc001mrz.3_Missense_Mutation_p.M16I|BDNF_uc001msa.2_Missense_Mutation_p.M24I NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 16 extracellular region growth factor activity 0 GGGCAGCCTTCATGCAACCAA 0.502 31 88 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30032317 30032317 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:30032317C>T uc001msk.2 - 2 3061 c.1909G>A c.(1909-1911)GAG>AAG p.E637K NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 637 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTATCTGTCTCACTGTCATCC 0.468 17 45 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 31113054 31113054 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:31113054C>A uc009yjk.1 - 5 536 c.467G>T c.(466-468)GGA>GTA p.G156V uc009yjl.1_Missense_Mutation_p.G84V|DCDC1_uc001msu.1_Missense_Mutation_p.G327V RecName: Full=Doublecortin domain-containing protein 5; CAGGATCATTCCAGTCTTCCA 0.428 9 11 --- --- --- --- PASS DCDC1 341019 broad.mit.edu 37 11 31327851 31327851 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:31327851C>A uc001msv.2 - 5 721 c.519G>T c.(517-519)GTG>GTT p.V173V DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 173 Doublecortin. intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TTACTTTAATCACTCTTGGTT 0.383 12 42 --- --- --- --- PASS PAX6 5080 broad.mit.edu 37 11 31815649 31815649 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:31815649G>T uc001mtd.3 - 8 1586 c.696C>A c.(694-696)ACC>ACA p.T232T PAX6_uc001mte.3_Silent_p.T232T|PAX6_uc001mtg.3_Silent_p.T246T|PAX6_uc001mtf.3_Silent_p.T232T|PAX6_uc001mth.3_Silent_p.T232T|PAX6_uc009yjr.2_Silent_p.T232T NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 232 Homeobox. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) CTGGATAATGGGTTCTCTCAA 0.423 Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 17 110 --- --- --- --- PASS WT1 7490 broad.mit.edu 37 11 32417924 32417924 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:32417924C>A uc001mtn.1 - 7 1324 c.1128G>T c.(1126-1128)CCG>CCT p.P376P WT1_uc001mtl.1_Silent_p.P164P|WT1_uc001mtm.1_Silent_p.P147P|WT1_uc001mto.1_Silent_p.P376P|WT1_uc001mtp.1_Silent_p.P359P|WT1_uc001mtq.1_Silent_p.P359P|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 308 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.T309fs*73(3)|p.T309fs*12(3)|p.T309fs*9(2)|p.T309fs*8(2)|p.R301fs*3(1)|p.A307fs*69(1)|p.P308fs*67(1)|p.A307fs*70(1)|p.T309fs*75(1)|p.P308fs*9(1)|p.V300fs*6(1)|p.R301fs*73(1)|p.T309fs*71(1)|p.R302fs*12(1) EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GTACAAGAGTCGGGGCTACTC 0.517 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 13 26 --- --- --- --- PASS WT1 7490 broad.mit.edu 37 11 32450097 32450097 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:32450097A>G uc001mtn.1 - 2 911 c.715T>C c.(715-717)TTC>CTC p.F239L WT1_uc001mtl.1_Missense_Mutation_p.F27L|WT1_uc001mtm.1_Missense_Mutation_p.F27L|WT1_uc001mto.1_Missense_Mutation_p.F239L|WT1_uc001mtp.1_Missense_Mutation_p.F239L|WT1_uc001mtq.1_Missense_Mutation_p.F239L|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 171 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TGGTTGGGGAACTGCGCCGCA 0.632 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 8 20 --- --- --- --- PASS CCDC73 493860 broad.mit.edu 37 11 32635972 32635972 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:32635972G>C uc001mtv.2 - 16 1936 c.1892C>G c.(1891-1893)TCG>TGG p.S631W NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 631 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) ATCTAGAGACGAGTCCAAATC 0.328 9 18 --- --- --- --- PASS QSER1 79832 broad.mit.edu 37 11 32956358 32956358 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:32956358G>T uc001mty.2 + 4 3434 c.3167G>T c.(3166-3168)AGT>ATT p.S1056I QSER1_uc001mtz.1_Missense_Mutation_p.S817I|QSER1_uc001mua.2_Missense_Mutation_p.S561I NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1056 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) GATGCAGTCAGTGTCAAGATT 0.428 13 69 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33572687 33572687 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:33572687G>C uc001mup.3 + 4 2854 c.2730G>C c.(2728-2730)GTG>GTC p.V910V C11orf41_uc001mun.1_Silent_p.V910V NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 904 integral to membrane ovary(2) 2 TGCTGGGTGTGTATGGAGTCA 0.493 59 86 --- --- --- --- PASS TRAF6 7189 broad.mit.edu 37 11 36511715 36511715 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:36511715C>T uc001mwr.1 - 8 1582 c.1242G>A c.(1240-1242)ATG>ATA p.M414I uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Missense_Mutation_p.M414I NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 414 MATH. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) ATTCTCCTTGCATTGTGTGGA 0.493 12 26 --- --- --- --- PASS RAG1 5896 broad.mit.edu 37 11 36595604 36595604 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:36595604G>T uc001mwu.3 + 2 874 c.750G>T c.(748-750)AAG>AAT p.K250N RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 250 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GTCAGCACAAGAGAAGAGCTC 0.498 Familial_Hemophagocytic_Lymphohistiocytosis 9 51 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40137549 40137549 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:40137549G>C uc001mxa.1 - 2 2258 c.294C>G c.(292-294)CAC>CAG p.H98Q LRRC4C_uc001mxc.1_Missense_Mutation_p.H94Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.H94Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.H94Q NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 98 LRR 1. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) AGTGTCTCAAGTGCTTGAAGC 0.473 6 42 --- --- --- --- PASS DDB2 1643 broad.mit.edu 37 11 47238436 47238436 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:47238436C>G uc001neb.2 + 3 487 c.292C>G c.(292-294)CTG>GTG p.L98V DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Intron|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.L98V|DDB2_uc001nef.2_Missense_Mutation_p.L84V|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_RNA NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 98 Required for interaction with DDB1. nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 TTTGCACACTCTGGATTCTTA 0.512 Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 6 13 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47312322 47312322 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:47312322C>T uc001ner.1 + 20 3507 c.3316C>T c.(3316-3318)CTG>TTG p.L1106L MADD_uc001neq.2_Silent_p.L1086L|MADD_uc001nev.1_Silent_p.L1043L|MADD_uc001nes.1_Silent_p.L1063L|MADD_uc001net.1_Silent_p.L1106L|MADD_uc009yln.1_Silent_p.L1043L|MADD_uc001neu.1_Silent_p.L1043L|MADD_uc001nex.2_Silent_p.L1106L|MADD_uc001nez.2_Silent_p.L1043L|MADD_uc001new.2_Silent_p.L1086L|MADD_uc009ylo.2_Silent_p.L24L NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1106 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TCCTAAGGAACTGGACACCAG 0.507 13 40 --- --- --- --- PASS OR4B1 119765 broad.mit.edu 37 11 48239093 48239093 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:48239093G>C uc010rhs.1 + 1 732 c.732G>C c.(730-732)GTG>GTC p.V244V NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 ACATCACAGTGGTCATCTTGT 0.468 5 63 --- --- --- --- PASS OR4A5 81318 broad.mit.edu 37 11 51411878 51411878 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:51411878T>C uc001nhi.1 - 1 518 c.518A>G c.(517-519)CAT>CGT p.H173R NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) ACAACTGAAATGAACAATGAC 0.443 5 42 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433256 55433256 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:55433256G>T uc001nht.3 + 3 879 c.614G>T c.(613-615)TGT>TTT p.C205F OR4C6_uc010rik.1_Missense_Mutation_p.C205F NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GGGATGATGTGTGTGGCCATC 0.478 14 56 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587261 55587261 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:55587261C>G uc010rin.1 + 1 156 c.156C>G c.(154-156)ATC>ATG p.I52M NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TCATCAAAATCAACCCCAAAC 0.453 14 99 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595417 55595417 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:55595417T>C uc001nhy.1 + 1 723 c.723T>C c.(721-723)TGT>TGC p.C241C NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TCTCCACCTGTGCCTCCCACC 0.493 HNSCC(27;0.073) 29 53 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861081 55861081 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:55861081C>G uc010rix.1 + 1 298 c.298C>G c.(298-300)CAA>GAA p.Q100E NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) CTGCTTTGTTCAAATGTACTT 0.398 16 100 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944717 55944717 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:55944717G>T uc010rjb.1 + 1 624 c.624G>T c.(622-624)ATG>ATT p.M208I NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TCATTGCCATGGCCACCTTCT 0.478 14 61 --- --- --- --- PASS OR5M9 390162 broad.mit.edu 37 11 56230190 56230190 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:56230190C>T uc010rjj.1 - 1 688 c.688G>A c.(688-690)GAT>AAT p.D230N NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) CTCCTGCCATCGGCAGAGCGC 0.498 12 9 --- --- --- --- PASS OR5AR1 219493 broad.mit.edu 37 11 56431331 56431331 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:56431331C>G uc010rjm.1 + 1 170 c.170C>G c.(169-171)ACA>AGA p.T57R NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAGCTTCACACACCCATGTAT 0.448 33 118 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468215 56468215 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:56468215G>C uc010rjn.1 + 1 352 c.352G>C c.(352-354)GCT>CCT p.A118P NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 118 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGCTGCCGTGGCTTATGACCG 0.537 4 52 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56949613 56949613 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:56949613C>G uc001njl.1 + 1 393 c.246C>G c.(244-246)CCC>CCG p.P82P NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 52 LRRNT. integral to membrane 0 CCAGCTGCCCCGTCCTTTGCA 0.647 7 25 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58207465 58207465 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:58207465G>C uc010rkh.1 - 1 160 c.160C>G c.(160-162)CAC>GAC p.H54D NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 54 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATGGGGGTGTGGAGACAGGAG 0.493 16 39 --- --- --- --- PASS OR5A1 219982 broad.mit.edu 37 11 59211286 59211286 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:59211286C>G uc001nnx.1 + 1 645 c.645C>G c.(643-645)CTC>CTG p.L215L NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CATCGTTCCTCCAACTCCTTA 0.547 44 92 --- --- --- --- PASS OR4D9 390199 broad.mit.edu 37 11 59282638 59282638 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:59282638C>A uc010rkv.1 + 1 253 c.253C>A c.(253-255)CTT>ATT p.L85I NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTGATAGATCTTCTATCAGA 0.463 19 56 --- --- --- --- PASS MRPL16 54948 broad.mit.edu 37 11 59574004 59574004 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:59574004C>G uc001noh.2 - 4 786 c.572G>C c.(571-573)AGC>ACC p.S191T NM_017840 NP_060310 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 precursor 191 rRNA binding central_nervous_system(1) 1 AGTCCCGCGGCTCACAGCCTT 0.512 13 86 --- --- --- --- PASS MS4A6E 245802 broad.mit.edu 37 11 60105243 60105243 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:60105243G>C uc001npd.2 + 2 191 c.177G>C c.(175-177)CTG>CTC p.L59L NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 59 Helical; (Potential). integral to membrane receptor activity 0 GAAGCATTCTGAGTGCTCTGT 0.483 9 67 --- --- --- --- PASS TMEM109 79073 broad.mit.edu 37 11 60687196 60687196 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:60687196G>T uc001nqg.2 + 2 409 c.31G>T c.(31-33)GGA>TGA p.G11* TMEM109_uc001nqh.2_Nonsense_Mutation_p.G11* NM_024092 NP_076997 Q9BVC6 TM109_HUMAN transmembrane protein 109 precursor 11 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane 0 TTCACCATGGGGAAAGCATGT 0.562 24 41 --- --- --- --- PASS CD6 923 broad.mit.edu 37 11 60785239 60785239 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:60785239G>A uc001nqq.2 + 11 1814 c.1591G>A c.(1591-1593)GAG>AAG p.E531K CD6_uc001nqp.2_Missense_Mutation_p.E531K|CD6_uc001nqr.2_Missense_Mutation_p.E499K|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.E490K NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 531 Cytoplasmic (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 AGGACTTGAAGAGTTGCATGC 0.408 15 82 --- --- --- --- PASS PGA3 643834 broad.mit.edu 37 11 60971058 60971058 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:60971058G>C uc001nqx.2 + 1 75 c.22G>C c.(22-24)GGT>CGT p.G8R PGA3_uc010rld.1_Missense_Mutation_p.G8R NM_001079807 NP_001073275 pepsinogen 3, group I precursor ovary(1)|skin(1) 2 GCTGCTGCTGGGTCTGGTGGC 0.582 9 13 --- --- --- --- PASS INCENP 3619 broad.mit.edu 37 11 61919412 61919412 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:61919412C>G uc001nsw.1 + 19 2923 c.2721C>G c.(2719-2721)GTC>GTG p.V907V INCENP_uc001nsx.1_Silent_p.V903V|INCENP_uc001nsy.1_Silent_p.V321V NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 907 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 GCGCCAGGGTCCCCAGCAGCC 0.557 5 18 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65267905 65267905 + RNA SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:65267905G>A uc010roh.1 + 1 c.2673G>A uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 AATCTAGGAAGACAGCAGCAG 0.448 22 40 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65268000 65268000 + RNA SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:65268000G>C uc010roh.1 + 1 c.2768G>C uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 GATAGGAAAAGAGTCCAGGAG 0.507 18 59 --- --- --- --- PASS ACY3 91703 broad.mit.edu 37 11 67413199 67413199 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:67413199G>A uc001omq.2 - 4 567 c.396C>T c.(394-396)CAC>CAT p.H132H NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 132 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) CAAAGACTTCGTGGGAGGACT 0.652 44 31 --- --- --- --- PASS KRTAP5-11 440051 broad.mit.edu 37 11 71293514 71293514 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:71293514G>A uc001oqu.2 - 1 408 c.370C>T c.(370-372)CCC>TCC p.P124S NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 124 5.|6 X 4 AA repeats of C-C-X-P. keratin filament 0 cagcagcagggcttgcagcag 0.085 7 67 --- --- --- --- PASS ARHGEF17 9828 broad.mit.edu 37 11 73020284 73020284 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:73020284C>A uc001otu.2 + 1 622 c.601C>A c.(601-603)CAG>AAG p.Q201K NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 201 Poly-Gln. actin cytoskeleton organization|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 0 GCGCCGGCCGCAGCAGCAACA 0.716 12 11 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76162994 76162994 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:76162994G>C uc001oxl.2 + 3 306 c.163G>C c.(163-165)GTT>CTT p.V55L C11orf30_uc001oxj.2_Missense_Mutation_p.V55L|C11orf30_uc001oxk.2_Missense_Mutation_p.V55L|C11orf30_uc009yuj.1_Missense_Mutation_p.V55L|C11orf30_uc010rsa.1_Missense_Mutation_p.V55L|C11orf30_uc001oxm.2_Missense_Mutation_p.V55L|C11orf30_uc010rsb.1_Missense_Mutation_p.V55L|C11orf30_uc010rsc.1_Missense_Mutation_p.V55L|C11orf30_uc001oxn.2_Missense_Mutation_p.V55L|C11orf30_uc010rsd.1_Missense_Mutation_p.V55L NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 55 Interaction with BRCA2.|ENT. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 ACTATCAAAAGTTCTTAGGTA 0.348 3 30 --- --- --- --- PASS NARS2 79731 broad.mit.edu 37 11 78285425 78285425 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:78285425G>C uc001ozi.2 - 1 485 c.109C>G c.(109-111)CAG>GAG p.Q37E NARS2_uc010rsq.1_Intron NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 37 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) CTCGCGTTCTGAGCCCCGAGA 0.577 107 73 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85447559 85447559 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:85447559G>C uc010rth.1 - 5 844 c.568C>G c.(568-570)CAG>GAG p.Q190E SYTL2_uc010rtg.1_Missense_Mutation_p.Q191E|SYTL2_uc010rti.1_Missense_Mutation_p.Q190E|SYTL2_uc010rtj.1_Missense_Mutation_p.Q142E|SYTL2_uc001pbf.3_Missense_Mutation_p.Q190E|SYTL2_uc010rtf.1_Missense_Mutation_p.Q48E NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 190 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding p.G190V(1) ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTTGAAGTCTGAAATAAACCA 0.333 11 24 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92533735 92533735 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:92533735G>C uc001pdj.3 + 9 7573 c.7556G>C c.(7555-7557)CGA>CCA p.R2519P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2519 Cadherin 23.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTCATGTTCGAGCCACAGAT 0.493 TCGA Ovarian(4;0.039) 10 23 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92600001 92600001 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:92600001A>T uc001pdj.3 + 21 11770 c.11753A>T c.(11752-11754)CAC>CTC p.H3918L FAT3_uc001pdi.3_Missense_Mutation_p.H358L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3918 Laminin G-like.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGAGCTGGCACTCGGTCTTC 0.637 TCGA Ovarian(4;0.039) 12 15 --- --- --- --- PASS SLC36A4 120103 broad.mit.edu 37 11 92881849 92881849 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:92881849C>A uc001pdn.2 - 11 1466 c.1369G>T c.(1369-1371)GCA>TCA p.A457S uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Missense_Mutation_p.A322S NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 457 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCAGTGAATGCTATAGAAATA 0.378 15 49 --- --- --- --- PASS ENDOD1 23052 broad.mit.edu 37 11 94861787 94861787 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:94861787G>A uc001pfh.2 + 2 622 c.547G>A c.(547-549)GAC>AAC p.D183N NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 183 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) CAGCCTAATGGACCGGGCTTT 0.517 15 32 --- --- --- --- PASS KIAA1377 57562 broad.mit.edu 37 11 101834216 101834216 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:101834216A>C uc001pgm.2 + 6 2720 c.2450A>C c.(2449-2451)CAA>CCA p.Q817P KIAA1377_uc001pgn.2_Missense_Mutation_p.Q773P|KIAA1377_uc010run.1_Missense_Mutation_p.Q618P|KIAA1377_uc009yxa.1_Missense_Mutation_p.Q618P NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 817 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAAAATATACAAGTGTCTCAG 0.338 18 29 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108382262 108382262 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:108382262G>C uc001pkk.2 - 6 4083 c.3972C>G c.(3970-3972)CTC>CTG p.L1324L EXPH5_uc010rvy.1_Silent_p.L1136L|EXPH5_uc010rvz.1_Silent_p.L1168L|EXPH5_uc010rwa.1_Silent_p.L1248L NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1324 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTCAGTGGTGAGCGTCTGAT 0.438 12 18 --- --- --- --- PASS ARHGAP20 57569 broad.mit.edu 37 11 110456944 110456944 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:110456944G>C uc001pkz.1 - 13 1696 c.1411C>G c.(1411-1413)CAA>GAA p.Q471E ARHGAP20_uc001pky.1_Missense_Mutation_p.Q448E|ARHGAP20_uc009yyb.1_Missense_Mutation_p.Q435E|ARHGAP20_uc001pla.1_Missense_Mutation_p.Q435E|ARHGAP20_uc001plb.2_Missense_Mutation_p.Q14E NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 471 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AATTACCTTTGAACAGTATTT 0.264 5 28 --- --- --- --- PASS APOA4 337 broad.mit.edu 37 11 116693478 116693478 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:116693478C>T uc001pps.1 - 2 177 c.73G>A c.(73-75)GAC>AAC p.D25N NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GCCACCTGGTCAGCACTGACC 0.582 20 32 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121476146 121476146 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:121476146C>T uc001pxx.2 + 35 4894 c.4814C>T c.(4813-4815)ACC>ATC p.T1605I SORL1_uc010rzp.1_Missense_Mutation_p.T451I|SORL1_uc010rzq.1_Missense_Mutation_p.T220I NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1605 Extracellular (Potential).|Fibronectin type-III 1. 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) ACTCTGGAGACCCACAGCAAT 0.453 43 89 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121485651 121485651 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:121485651C>G uc001pxx.2 + 41 5571 c.5491C>G c.(5491-5493)CTG>GTG p.L1831V SORL1_uc010rzp.1_Missense_Mutation_p.L677V|SORL1_uc010rzq.1_Missense_Mutation_p.L446V NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1831 Extracellular (Potential).|Fibronectin type-III 3. 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) GGATAGCCCTCTGGCATTTGA 0.527 18 39 --- --- --- --- PASS OR6M1 390261 broad.mit.edu 37 11 123676886 123676886 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:123676886A>T uc010rzz.1 - 1 172 c.172T>A c.(172-174)TAC>AAC p.Y58N NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AGGAAGAAGTACATTGGAGTT 0.423 13 73 --- --- --- --- PASS OR6T1 219874 broad.mit.edu 37 11 123814316 123814316 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:123814316A>T uc010sab.1 - 1 230 c.230T>A c.(229-231)GTG>GAG p.V77E NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 77 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTTGGGAACCACAACAGTTAC 0.488 38 56 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123893820 123893820 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:123893820T>A uc010sad.1 + 1 101 c.101T>A c.(100-102)GTG>GAG p.V34E NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTGGTTTACGTGCTCACTGTG 0.572 13 68 --- --- --- --- PASS OR8G2 26492 broad.mit.edu 37 11 124096236 124096236 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:124096236C>A uc010saf.1 + 1 839 c.839C>A c.(838-840)TCC>TAC p.S280Y NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 280 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TCTGTCAGCTCCATGGACCAG 0.478 36 68 --- --- --- --- PASS HEPACAM 220296 broad.mit.edu 37 11 124793658 124793658 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:124793658C>A uc001qbk.2 - 3 1082 c.676G>T c.(676-678)GGC>TGC p.G226C HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.G226C NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN hepatocyte cell adhesion molecule precursor 226 Extracellular (Potential).|Ig-like C2-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane pancreas(1) 1 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) AGGCTGCGGCCCTGGCTGATG 0.577 5 25 --- --- --- --- PASS KCNJ1 3758 broad.mit.edu 37 11 128710133 128710133 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr11:128710133G>C uc001qeo.1 - 2 114 c.63C>G c.(61-63)TTC>TTG p.F21L KCNJ1_uc001qep.1_Missense_Mutation_p.F2L|KCNJ1_uc001qeq.1_Missense_Mutation_p.F2L|KCNJ1_uc001qer.1_Missense_Mutation_p.F2L|KCNJ1_uc001qes.1_Missense_Mutation_p.F2L NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 21 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) GAAGATGTTTGAACATACTTT 0.403 13 50 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 427394 427394 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:427394C>G uc001qif.1 - 19 3138 c.2775G>C c.(2773-2775)CTG>CTC p.L925L KDM5A_uc001qie.1_Silent_p.L925L|KDM5A_uc010sdn.1_Silent_p.L884L NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 925 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 CAGAGTCTATCAGCTTCTTCA 0.502 T NUP98 AML 57 39 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2693757 2693757 + Missense_Mutation SNP G T T rs150598253 by1000genomes TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:2693757G>T uc009zdu.1 + 16 2626 c.2313G>T c.(2311-2313)GAG>GAT p.E771D CACNA1C_uc009zdv.1_Missense_Mutation_p.E768D|CACNA1C_uc001qkb.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkc.2_Missense_Mutation_p.E771D|CACNA1C_uc001qke.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkf.2_Missense_Mutation_p.E771D|CACNA1C_uc001qjz.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkd.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkg.2_Missense_Mutation_p.E771D|CACNA1C_uc009zdw.1_Missense_Mutation_p.E771D|CACNA1C_uc001qkh.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkl.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkn.2_Missense_Mutation_p.E771D|CACNA1C_uc001qko.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkp.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkr.2_Missense_Mutation_p.E771D|CACNA1C_uc001qku.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkq.2_Missense_Mutation_p.E771D|CACNA1C_uc001qks.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkt.2_Missense_Mutation_p.E771D|CACNA1C_uc001qka.1_Missense_Mutation_p.E306D|CACNA1C_uc001qki.1_Missense_Mutation_p.E507D|CACNA1C_uc001qkj.1_Missense_Mutation_p.E507D|CACNA1C_uc001qkk.1_Missense_Mutation_p.E507D|CACNA1C_uc001qkm.1_Missense_Mutation_p.E507D|CACNA1C_uc001qkw.2_Missense_Mutation_p.E60D NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 771 Cytoplasmic (Potential).|Poly-Glu. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) aggaggaagaggagaaggaga 0.468 19 45 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2702441 2702441 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:2702441C>T uc009zdu.1 + 19 2906 c.2593C>T c.(2593-2595)CTT>TTT p.L865F CACNA1C_uc009zdv.1_Missense_Mutation_p.L862F|CACNA1C_uc001qkb.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkc.2_Missense_Mutation_p.L865F|CACNA1C_uc001qke.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L865F|CACNA1C_uc001qjz.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkd.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkg.2_Missense_Mutation_p.L865F|CACNA1C_uc009zdw.1_Missense_Mutation_p.L865F|CACNA1C_uc001qkh.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkl.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkn.2_Missense_Mutation_p.L865F|CACNA1C_uc001qko.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L865F|CACNA1C_uc001qku.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkq.2_Missense_Mutation_p.L865F|CACNA1C_uc001qks.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkt.2_Missense_Mutation_p.L865F|CACNA1C_uc001qka.1_Missense_Mutation_p.L400F|CACNA1C_uc001qki.1_Missense_Mutation_p.L601F|CACNA1C_uc001qkj.1_Missense_Mutation_p.L601F|CACNA1C_uc001qkk.1_Missense_Mutation_p.L601F|CACNA1C_uc001qkm.1_Missense_Mutation_p.L601F|CACNA1C_uc001qkw.2_Missense_Mutation_p.L154F NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 865 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACTCTCTGAGCTTCACCTTAA 0.537 5 33 --- --- --- --- PASS FKBP4 2288 broad.mit.edu 37 12 2906971 2906971 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:2906971A>G uc001qkz.2 + 3 525 c.327A>G c.(325-327)CCA>CCG p.P109P NM_002014 NP_002005 Q02790 FKBP4_HUMAN FK506 binding protein 52 109 PPIase FKBP-type 1. negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging 0 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) CCTGCAAACCAGAATATGCCT 0.532 14 111 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6138553 6138553 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:6138553C>A uc001qnn.1 - 22 3172 c.2922G>T c.(2920-2922)TGG>TGT p.W974C VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 974 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GGTGGCGGTCCCAGACCACGG 0.542 106 52 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6138585 6138585 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:6138585G>A uc001qnn.1 - 22 3140 c.2890C>T c.(2890-2892)CTG>TTG p.L964L VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 964 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CCCAGCAGCAGAATGATGTAC 0.547 80 42 --- --- --- --- PASS IFFO1 25900 broad.mit.edu 37 12 6649720 6649720 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:6649720C>A uc001qpd.1 - 9 1643 c.1609G>T c.(1609-1611)GAC>TAC p.D537Y IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Missense_Mutation_p.D177Y|IFFO1_uc001qpb.1_Missense_Mutation_p.D214Y|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.D549Y|IFFO1_uc001qpf.1_Missense_Mutation_p.D540Y|IFFO1_uc001qoz.1_Missense_Mutation_p.D178Y|IFFO1_uc001qpc.1_Missense_Mutation_p.D541Y|IFFO1_uc001qpg.2_Silent_p.A176A NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 537 intermediate filament 0 GGCGGCGGGTCGCTAAGCGGG 0.602 3 29 --- --- --- --- PASS CD4 920 broad.mit.edu 37 12 6925470 6925470 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:6925470C>T uc001qqv.1 + 6 1101 c.856C>T c.(856-858)CAG>TAG p.Q286* CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_Nonsense_Mutation_p.Q13*|CD4_uc009zfc.1_Nonsense_Mutation_p.Q107*|CD4_uc010sfk.1_Nonsense_Mutation_p.Q13*|CD4_uc010sfl.1_Nonsense_Mutation_p.Q13*|CD4_uc010sfm.1_Nonsense_Mutation_p.Q13* NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 286 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) CACCCTGCCCCAGGCCTTGCC 0.552 49 21 --- --- --- --- PASS LPCAT3 10162 broad.mit.edu 37 12 7090191 7090191 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:7090191C>A uc001qsi.2 - 6 766 c.652G>T c.(652-654)GAC>TAC p.D218Y EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.D112Y|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.D76Y NM_005768 NP_005759 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 218 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity ovary(1) 1 CCTGGTATGTCAATCAGCTCT 0.473 33 175 --- --- --- --- PASS LPCAT3 10162 broad.mit.edu 37 12 7090202 7090202 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:7090202C>T uc001qsi.2 - 6 755 c.641G>A c.(640-642)GGA>GAA p.G214E EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.G108E|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.G72E NM_005768 NP_005759 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 214 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity ovary(1) 1 AATCAGCTCTCCCTGCACCAG 0.478 22 161 --- --- --- --- PASS C3AR1 719 broad.mit.edu 37 12 8212271 8212271 + Nonsense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:8212271T>A uc001qtv.1 - 2 603 c.511A>T c.(511-513)AGA>TGA p.R171* NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 171 Extracellular (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) TAGCCACATCTATTATGGTTG 0.443 24 85 --- --- --- --- PASS PRH2 5555 broad.mit.edu 37 12 11081921 11081921 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:11081921C>A uc009zhr.2 + 1 87 c.49C>A c.(49-51)CAG>AAG p.Q17K PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.Q17K|PRH2_uc001qzi.3_Missense_Mutation_p.Q17K NM_001110213 NP_001103683 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 2 17 Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium. extracellular space protein binding 0 CAGCTCAGCTCAGGACTTAGA 0.517 35 74 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12303970 12303970 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:12303970G>A uc001rah.3 - 13 2936 c.2794C>T c.(2794-2796)CCT>TCT p.P932S BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P932S NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 932 Extracellular (Potential). cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) AAAGTCGTAGGAGCTTAAAAG 0.348 7 36 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13769432 13769432 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:13769432A>T uc001rbt.2 - 5 1464 c.1285T>A c.(1285-1287)TGC>AGC p.C429S NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 429 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCCTCATGCAGGTTCCACTC 0.517 16 42 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14577231 14577231 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:14577231G>T uc001rbw.2 + 2 540 c.382G>T c.(382-384)GAA>TAA p.E128* ATF7IP_uc010shs.1_Nonsense_Mutation_p.E128*|ATF7IP_uc001rbu.2_Nonsense_Mutation_p.E128*|ATF7IP_uc001rbv.1_Nonsense_Mutation_p.E128*|ATF7IP_uc001rbx.2_Nonsense_Mutation_p.E128*|ATF7IP_uc010sht.1_Nonsense_Mutation_p.E128*|ATF7IP_uc001rby.3_Nonsense_Mutation_p.E128*|ATF7IP_uc001rbz.1_Nonsense_Mutation_p.E128*|ATF7IP_uc001rca.2_Nonsense_Mutation_p.E128*|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 128 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 ACTGCCTGCTGAACCAGTTTC 0.483 29 21 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 21958144 21958144 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:21958144A>C uc001rfi.1 - 38 4634 c.4614T>G c.(4612-4614)AAT>AAG p.N1538K ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.N1502K|ABCC9_uc001rfg.2_Intron NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1538 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAAAGAGGCCATTCTTGTGGG 0.433 6 82 --- --- --- --- PASS ARNTL2 56938 broad.mit.edu 37 12 27553476 27553476 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:27553476A>G uc001rht.1 + 10 947 c.929A>G c.(928-930)AAA>AGA p.K310R ARNTL2_uc001rhw.2_Missense_Mutation_p.K273R|ARNTL2_uc010sjp.1_Missense_Mutation_p.K273R|ARNTL2_uc001rhu.1_Missense_Mutation_p.K296R|ARNTL2_uc009zji.1_Missense_Mutation_p.K276R|ARNTL2_uc001rhv.1_Missense_Mutation_p.K262R|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 310 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) GAGCACAGAAAATTCTATACT 0.289 11 81 --- --- --- --- PASS REP15 387849 broad.mit.edu 37 12 27849721 27849721 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:27849721C>A uc001rig.1 + 1 294 c.226C>A c.(226-228)CTG>ATG p.L76M NM_001029874 NP_001025045 Q6BDI9 REP15_HUMAN RAB15 effector protein 76 early endosome membrane ovary(1) 1 Lung SC(9;0.0873) TGATGAGTGGCTGACCACCAC 0.458 47 36 --- --- --- --- PASS PTHLH 5744 broad.mit.edu 37 12 28116594 28116594 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:28116594C>T uc001rik.2 - 3 514 c.211G>A c.(211-213)GAA>AAA p.E71K PTHLH_uc001ril.2_Missense_Mutation_p.E71K|PTHLH_uc001rim.2_Missense_Mutation_p.E71K|PTHLH_uc001rin.2_Missense_Mutation_p.E71K NM_198966 NP_945317 P12272 PTHR_HUMAN parathyroid hormone-like hormone isoform 1 71 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1) 1 Lung SC(9;0.184) GCTCTGATTTCAGCTGTGTGG 0.517 89 92 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29639211 29639211 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:29639211T>C uc001rix.1 - 8 963 c.963A>G c.(961-963)CAA>CAG p.Q321Q NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 321 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CATTCACTTCTTGGACAGAAC 0.448 25 117 --- --- --- --- PASS TMTC1 83857 broad.mit.edu 37 12 29659798 29659798 + Missense_Mutation SNP C G G rs79931373 byFrequency TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:29659798C>G uc001rjb.2 - 18 2780 c.2306G>C c.(2305-2307)CGA>CCA p.R769P TMTC1_uc001riz.2_Missense_Mutation_p.R526P|TMTC1_uc001rja.2_Missense_Mutation_p.R613P|TMTC1_uc001riy.2_Missense_Mutation_p.R222P NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 877 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) ATCCTTTTCTCGAACTTCTTG 0.453 26 124 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32137137 32137137 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:32137137A>T uc001rks.2 + 4 3662 c.3248A>T c.(3247-3249)CAG>CTG p.Q1083L C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1083 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) ACTACATACCAGACCTCAGAA 0.408 10 127 --- --- --- --- PASS PKP2 5318 broad.mit.edu 37 12 32974420 32974420 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:32974420T>C uc001rlj.3 - 10 2130 c.2015A>G c.(2014-2016)AAG>AGG p.K672R PKP2_uc001rlk.3_Missense_Mutation_p.K628R|PKP2_uc010skj.1_Missense_Mutation_p.K625R NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 672 ARM 5. cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTCCACGCCCTTGGGGTTGCT 0.478 9 49 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41327314 41327314 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:41327314A>T uc001rmm.1 + 8 868 c.755A>T c.(754-756)TAT>TTT p.Y252F CNTN1_uc009zjy.1_Missense_Mutation_p.Y252F|CNTN1_uc001rmn.1_Missense_Mutation_p.Y241F|CNTN1_uc001rmo.2_Missense_Mutation_p.Y252F NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 252 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAGGATGTATATGCATTGATG 0.303 30 35 --- --- --- --- PASS SLC38A1 81539 broad.mit.edu 37 12 46591814 46591814 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:46591814C>G uc001rpa.2 - 15 1410 c.1152G>C c.(1150-1152)AAG>AAC p.K384N SLC38A1_uc001rpb.2_Missense_Mutation_p.K384N|SLC38A1_uc001rpc.2_Missense_Mutation_p.K384N|SLC38A1_uc001rpd.2_Missense_Mutation_p.K384N|SLC38A1_uc001rpe.2_Missense_Mutation_p.K384N|SLC38A1_uc009zkj.1_Missense_Mutation_p.K384N NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 384 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) ACTTTGTTTTCTTAGCCAGTT 0.373 9 35 --- --- --- --- PASS ADCY6 112 broad.mit.edu 37 12 49176824 49176824 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:49176824G>A uc001rsh.3 - 1 1054 c.394C>T c.(394-396)CGT>TGT p.R132C ADCY6_uc001rsj.3_Missense_Mutation_p.R132C|ADCY6_uc001rsi.3_Missense_Mutation_p.R132C NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 132 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 TTGGCCGAACGGAACTGCTTC 0.667 24 35 --- --- --- --- PASS DDX23 9416 broad.mit.edu 37 12 49230475 49230475 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:49230475C>G uc001rsm.2 - 10 1204 c.1113G>C c.(1111-1113)CGG>CGC p.R371R NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 371 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 CACGGAAGATCCGCCAGTCCC 0.527 47 89 --- --- --- --- PASS TMBIM6 7009 broad.mit.edu 37 12 50149493 50149493 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:50149493G>T uc001rux.2 + 4 373 c.241G>T c.(241-243)GAA>TAA p.E81* TMBIM6_uc010sml.1_Nonsense_Mutation_p.E81*|TMBIM6_uc001ruy.2_Nonsense_Mutation_p.E139*|TMBIM6_uc001ruz.2_Nonsense_Mutation_p.E81* NM_003217 NP_003208 P55061 BI1_HUMAN testis enhanced gene transcript (BAX inhibitor 81 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus 0 CCATGAAACTGAACAGAAAAG 0.438 60 85 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50186285 50186285 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:50186285A>T uc009zlk.2 - 12 3938 c.3736T>A c.(3736-3738)TCG>ACG p.S1246T NCKAP5L_uc001rvc.3_Missense_Mutation_p.S450T|NCKAP5L_uc001rvb.2_Missense_Mutation_p.S839T NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1242 Pro-rich. central_nervous_system(1) 1 AGAGGGTCCGAGGAGCTGCCG 0.622 10 14 --- --- --- --- PASS GPD1 2819 broad.mit.edu 37 12 50498416 50498416 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:50498416C>A uc001rvz.2 + 2 134 c.101C>A c.(100-102)CCA>CAA p.P34Q GPD1_uc010smp.1_Missense_Mutation_p.P34Q|GPD1_uc001rwa.2_Missense_Mutation_p.P34Q NM_005276 NP_005267 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 34 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity 0 NADH(DB00157) CAGTTTGACCCACGGGTGACC 0.557 76 72 --- --- --- --- PASS SLC4A8 9498 broad.mit.edu 37 12 51851227 51851227 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:51851227C>T uc001rys.1 + 6 845 c.667C>T c.(667-669)CAG>TAG p.Q223* SLC4A8_uc010sni.1_Nonsense_Mutation_p.Q170*|SLC4A8_uc001rym.2_Nonsense_Mutation_p.Q170*|SLC4A8_uc001ryn.2_Nonsense_Mutation_p.Q170*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.Q170*|SLC4A8_uc001ryp.1_Nonsense_Mutation_p.Q170*|SLC4A8_uc010snj.1_Nonsense_Mutation_p.Q250*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.Q223*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.Q223*|SLC4A8_uc010snk.1_Nonsense_Mutation_p.Q170* NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 223 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) GCATCATCATCAGAATGAAAA 0.448 31 74 --- --- --- --- PASS SLC4A8 9498 broad.mit.edu 37 12 51851228 51851228 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:51851228A>C uc001rys.1 + 6 846 c.668A>C c.(667-669)CAG>CCG p.Q223P SLC4A8_uc010sni.1_Missense_Mutation_p.Q170P|SLC4A8_uc001rym.2_Missense_Mutation_p.Q170P|SLC4A8_uc001ryn.2_Missense_Mutation_p.Q170P|SLC4A8_uc001ryo.2_Missense_Mutation_p.Q170P|SLC4A8_uc001ryp.1_Missense_Mutation_p.Q170P|SLC4A8_uc010snj.1_Missense_Mutation_p.Q250P|SLC4A8_uc001ryq.3_Missense_Mutation_p.Q223P|SLC4A8_uc001ryr.2_Missense_Mutation_p.Q223P|SLC4A8_uc010snk.1_Missense_Mutation_p.Q170P NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 223 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) CATCATCATCAGAATGAAAAG 0.448 31 77 --- --- --- --- PASS KRT85 3891 broad.mit.edu 37 12 52758919 52758919 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:52758919C>T uc001sag.2 - 2 576 c.456G>A c.(454-456)GAG>GAA p.E152E NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 152 Rod.|Coil 1A. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCACTTGGTCTCCAGCAGCT 0.617 25 22 --- --- --- --- PASS KRT77 374454 broad.mit.edu 37 12 53096844 53096844 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:53096844C>G uc001saw.2 - 1 404 c.375G>C c.(373-375)GGG>GGC p.G125G KRT77_uc009zmi.2_5'UTR NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN keratin 77 125 Head. keratin filament structural molecule activity ovary(1) 1 GACCAAAGCCCCCAAGCCCAA 0.577 11 76 --- --- --- --- PASS OR6C65 403282 broad.mit.edu 37 12 55794480 55794480 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:55794480T>A uc010spl.1 + 1 168 c.168T>A c.(166-168)CCT>CCA p.P56P NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 56 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGAAAACTCCTATGTATTTCT 0.313 7 26 --- --- --- --- PASS ITGA7 3679 broad.mit.edu 37 12 56094770 56094770 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:56094770C>T uc001shh.2 - 4 803 c.583G>A c.(583-585)GGG>AGG p.G195R ITGA7_uc001shg.2_Missense_Mutation_p.G195R|ITGA7_uc010sps.1_Missense_Mutation_p.G98R|ITGA7_uc009znx.2_Missense_Mutation_p.G82R NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 195 FG-GAP 3.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 TGGCAGAACCCAAATTGTTCA 0.582 4 53 --- --- --- --- PASS MARS 4141 broad.mit.edu 37 12 57910229 57910229 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:57910229C>T uc001sog.2 + 21 2591 c.2568C>T c.(2566-2568)GTC>GTT p.V856V MARS_uc001sof.1_RNA|MARS_uc001soh.1_3'UTR NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 856 WHEP-TRS. methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GAAACATTGTCCGAGAACTGA 0.483 18 63 --- --- --- --- PASS TBK1 29110 broad.mit.edu 37 12 64854058 64854058 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:64854058G>T uc001ssc.1 + 3 239 c.177G>T c.(175-177)TTG>TTT p.L59F NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 59 Protein kinase. I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1) 5 GBM - Glioblastoma multiforme(28;0.0386) TTGAAGTGTTGAAAAAACTCA 0.284 10 42 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71092078 71092078 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:71092078C>G uc001swi.1 - 8 1662 c.1246G>C c.(1246-1248)GGA>CGA p.G416R PTPRR_uc001swh.1_Missense_Mutation_p.G171R|PTPRR_uc009zrs.2_Missense_Mutation_p.G265R|PTPRR_uc010stq.1_Missense_Mutation_p.G304R|PTPRR_uc010str.1_Missense_Mutation_p.G265R NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 416 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTTTTAGTTCCATGACGCGGA 0.254 4 29 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85432046 85432046 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:85432046G>T uc001tac.2 + 2 203 c.92G>T c.(91-93)AGT>ATT p.S31I LRRIQ1_uc001tab.1_Missense_Mutation_p.S31I|TSPAN19_uc009zsj.2_5'Flank|LRRIQ1_uc001taa.1_Missense_Mutation_p.S31I|LRRIQ1_uc001tad.2_5'Flank NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 31 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GACATTGAGAGTGATGCAAAA 0.373 23 31 --- --- --- --- PASS NT5DC3 51559 broad.mit.edu 37 12 104190720 104190720 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:104190720G>C uc010swe.1 - 6 746 c.705C>G c.(703-705)CTC>CTG p.L235L NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 235 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 TGTTGTTCTTGAGGAAGTATT 0.478 26 53 --- --- --- --- PASS APPL2 55198 broad.mit.edu 37 12 105600901 105600901 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:105600901C>A uc001tlf.1 - 8 777 c.559G>T c.(559-561)GCG>TCG p.A187S APPL2_uc010swt.1_Missense_Mutation_p.A144S|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.A193S|APPL2_uc009zuq.2_Missense_Mutation_p.A144S NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 187 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 TACTGCAGCGCGTTGAGGGCA 0.567 13 30 --- --- --- --- PASS NUAK1 9891 broad.mit.edu 37 12 106460588 106460588 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:106460588G>C uc001tlj.1 - 7 3358 c.1978C>G c.(1978-1980)CTC>GTC p.L660V NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 660 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TGCTAGTTGAGCTTGCTGCAG 0.612 9 91 --- --- --- --- PASS POLR3B 55703 broad.mit.edu 37 12 106824224 106824224 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:106824224G>A uc001tlp.2 + 14 1659 c.1437G>A c.(1435-1437)CTG>CTA p.L479L POLR3B_uc001tlq.2_Silent_p.L421L NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 479 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 GGGGAATGCTGTGTCCTTCGG 0.522 26 43 --- --- --- --- PASS CMKLR1 1240 broad.mit.edu 37 12 108685783 108685783 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:108685783C>A uc009zuw.2 - 3 1148 c.957G>T c.(955-957)ATG>ATT p.M319I CMKLR1_uc001tmw.2_Missense_Mutation_p.M319I|CMKLR1_uc001tmv.2_Missense_Mutation_p.M317I|CMKLR1_uc009zuv.2_Missense_Mutation_p.M319I NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 319 Helical; Name=7; (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 AGTCCTGACCCATGAAAACAT 0.537 23 33 --- --- --- --- PASS MYO1H 283446 broad.mit.edu 37 12 109843825 109843825 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:109843825C>T uc010sxn.1 + 7 900 c.900C>T c.(898-900)ATC>ATT p.I300I NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 CCCATGAGATCAAGTGGATAG 0.522 16 23 --- --- --- --- PASS C12orf76 400073 broad.mit.edu 37 12 110495092 110495092 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:110495092C>T uc001tqd.1 - 4 566 c.201G>A c.(199-201)AAG>AAA p.K67K C12orf76_uc001tqe.1_RNA|C12orf76_uc010sxx.1_RNA|uc001tqf.1_Intron NM_207435 NP_997318 Q8N812 CL076_HUMAN hypothetical protein LOC400073 67 large_intestine(1) 1 TCCTCTCCCCCTTACAGCTCC 0.522 4 12 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112654880 112654880 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:112654880G>A uc009zwc.2 - 39 5946 c.5928C>T c.(5926-5928)CCC>CCT p.P1976P C12orf51_uc001ttr.1_Silent_p.P151P NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AAGTGCCCCGGGGCAGGCCTC 0.547 10 17 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115114170 115114170 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:115114170G>A uc001tvt.1 - 6 2011 c.1047C>T c.(1045-1047)TTC>TTT p.F349F TBX3_uc001tvu.1_Silent_p.F329F NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 349 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) AAGCCTGGGCGAAGCAGTTGA 0.527 15 48 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115120647 115120647 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:115120647C>A uc001tvt.1 - 1 1323 c.359G>T c.(358-360)GGC>GTC p.G120V TBX3_uc001tvu.1_Missense_Mutation_p.G120V|TBX3_uc010syw.1_Missense_Mutation_p.G120V NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 120 T-box; first part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CATCTCGGTGCCCCGCTTGTG 0.547 13 30 --- --- --- --- PASS HSPB8 26353 broad.mit.edu 37 12 119624881 119624881 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:119624881C>A uc001txb.2 + 2 942 c.419C>A c.(418-420)ACA>AAA p.T140K HSPB8_uc001txc.2_Intron NM_014365 NP_055180 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 140 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGAACTTCACAAAGAAAATC 0.507 31 35 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124303771 124303771 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:124303771G>T uc001uft.3 + 22 3645 c.3620G>T c.(3619-3621)GGT>GTT p.G1207V NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1207 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAGGCCCTGGTTCTGTTGGT 0.388 12 4 --- --- --- --- PASS UBC 7316 broad.mit.edu 37 12 125397817 125397817 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:125397817G>A uc001ugs.3 - 2 949 c.501C>T c.(499-501)CTC>CTT p.L167L UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.L167L|UBC_uc001ugt.2_Silent_p.L167L|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.L15L NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 167 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GCTCCACCTCGAGGGTGATGG 0.512 60 123 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126138695 126138695 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:126138695G>C uc001uhe.1 + 9 2684 c.2676G>C c.(2674-2676)AGG>AGC p.R892S TMEM132B_uc001uhf.1_Missense_Mutation_p.R404S NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 892 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGACCTCAAGGGGGCTAACGG 0.512 14 48 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129559279 129559279 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr12:129559279G>T uc009zyl.1 - 9 2769 c.2441C>A c.(2440-2442)GCA>GAA p.A814E TMEM132D_uc001uia.2_Missense_Mutation_p.A352E NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 814 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGAACCCCTGCCCCTGTGTG 0.488 9 58 --- --- --- --- PASS IFT88 8100 broad.mit.edu 37 13 21189974 21189974 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:21189974C>G uc001unh.2 + 16 1578 c.1182C>G c.(1180-1182)CTC>CTG p.L394L IFT88_uc001uni.2_Silent_p.L385L|IFT88_uc001unj.2_Silent_p.L384L|IFT88_uc010tcq.1_Silent_p.L365L|IFT88_uc001unk.2_Silent_p.L140L|IFT88_uc001unl.1_Silent_p.L12L NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 394 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CTGCAAAACTCATTGCTCCTG 0.284 6 19 --- --- --- --- PASS IFT88 8100 broad.mit.edu 37 13 21219051 21219051 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:21219051T>A uc001unh.2 + 22 2326 c.1930T>A c.(1930-1932)TTT>ATT p.F644I IFT88_uc001uni.2_Missense_Mutation_p.F635I|IFT88_uc001unj.2_Missense_Mutation_p.F634I|IFT88_uc010tcq.1_Missense_Mutation_p.F615I NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 644 TPR 11. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TGACACCCAATTTTGGGAAAA 0.303 9 39 --- --- --- --- PASS LATS2 26524 broad.mit.edu 37 13 21562336 21562336 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:21562336G>A uc009zzs.2 - 4 1948 c.1583C>T c.(1582-1584)TCG>TTG p.S528L LATS2_uc001unr.3_Missense_Mutation_p.S528L NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 528 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GTACTGCTCCGACTTGCTGCG 0.716 9 14 --- --- --- --- PASS CENPJ 55835 broad.mit.edu 37 13 25480240 25480240 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:25480240C>T uc001upt.3 - 7 2189 c.1936G>A c.(1936-1938)GAG>AAG p.E646K CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 646 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTCTCCTTCTCACGTGCAGTG 0.488 5 35 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 29001924 29001924 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:29001924A>G uc001usb.3 - 9 1526 c.1241T>C c.(1240-1242)GTG>GCG p.V414A FLT1_uc010aar.1_Missense_Mutation_p.V414A|FLT1_uc001usc.3_Missense_Mutation_p.V414A|FLT1_uc010tdp.1_Missense_Mutation_p.V414A NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 414 Ig-like C2-type 4.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTTTTTAAACACATTTGACTG 0.378 12 44 --- --- --- --- PASS TRPC4 7223 broad.mit.edu 37 13 38213200 38213200 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:38213200C>A uc001uws.2 - 10 2423 c.2188G>T c.(2188-2190)GGC>TGC p.G730C TRPC4_uc010abv.2_Missense_Mutation_p.G310C|TRPC4_uc001uwt.2_Missense_Mutation_p.G730C|TRPC4_uc010tey.1_Missense_Mutation_p.V730F|TRPC4_uc010abw.2_Missense_Mutation_p.G557C|TRPC4_uc010abx.2_Missense_Mutation_p.G735C|TRPC4_uc010aby.2_Missense_Mutation_p.G665C NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 730 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCGGTCAGGCCTTCTTCAGTT 0.398 16 88 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39264956 39264956 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:39264956G>T uc001uwv.2 + 1 3784 c.3475G>T c.(3475-3477)GTG>TTG p.V1159L NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1159 Extracellular (Potential).|CSPG 7. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGTGGAACCTGTGGAGGACCG 0.443 10 59 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39266606 39266606 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:39266606C>G uc001uwv.2 + 1 5434 c.5125C>G c.(5125-5127)CTT>GTT p.L1709V NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1709 Extracellular (Potential).|CSPG 12. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACATGGATATCTTCTCAACCT 0.423 19 73 --- --- --- --- PASS SLC25A15 10166 broad.mit.edu 37 13 41379369 41379369 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:41379369G>C uc001uxn.2 + 4 752 c.430G>C c.(430-432)GGG>CGG p.G144R SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.G50R|SUGT1L1_uc001uxo.1_Intron NM_014252 NP_055067 Q9Y619 ORNT1_HUMAN mitochondrial ornithine transporter 1 144 Solcar 2. cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity 0 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704) L-Ornithine(DB00129) GGAGACATCAGGGAAGATAGC 0.517 6 31 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58207038 58207038 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:58207038G>T uc001vhq.1 + 1 1250 c.358G>T c.(358-360)GTA>TTA p.V120L PCDH17_uc010aec.1_Missense_Mutation_p.V120L NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 120 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CATGATCAAGGTAGAGATCCA 0.602 7 15 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 66879051 66879051 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:66879051T>A uc001vik.2 - 5 4142 c.3450A>T c.(3448-3450)CCA>CCT p.P1150P PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.P1116P|PCDH9_uc010thl.1_Silent_p.P1108P NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1150 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGTGTTGATATGGACCCAAGC 0.517 14 44 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77739409 77739409 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:77739409T>A uc001vkf.2 - 43 6435 c.6344A>T c.(6343-6345)GAG>GTG p.E2115V MYCBP2_uc010aev.2_Missense_Mutation_p.E1519V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CATTCTTACCTCATCAGGTCC 0.353 11 30 --- --- --- --- PASS CLDN10 9071 broad.mit.edu 37 13 96086270 96086270 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:96086270C>T uc001vmg.2 + 1 418 c.183C>T c.(181-183)TGC>TGT p.C61C CLDN10_uc010tii.1_Intron NM_182848 NP_878268 P78369 CLD10_HUMAN claudin 10 isoform a 63 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) CTTTCCATTGCCGACCGCATT 0.493 10 32 --- --- --- --- PASS TM9SF2 9375 broad.mit.edu 37 13 100181719 100181719 + Splice_Site SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:100181719A>T uc001voj.1 + 4 467 c.334_splice c.e4-2 p.F112_splice TM9SF2_uc010afz.1_Intron NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CTTTTAATACAGTTTACGTTT 0.303 3 19 --- --- --- --- PASS PCCA 5095 broad.mit.edu 37 13 100925585 100925585 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:100925585G>C uc001voo.2 + 12 1088 c.1050G>C c.(1048-1050)ATG>ATC p.M350I PCCA_uc010aga.2_Missense_Mutation_p.M324I|PCCA_uc010tiz.1_Missense_Mutation_p.M350I NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 350 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TCTTGGAAATGAATACAAGAC 0.388 7 9 --- --- --- --- PASS PROZ 8858 broad.mit.edu 37 13 113814408 113814408 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr13:113814408G>A uc001vta.1 + 2 158 c.151G>A c.(151-153)GAG>AAG p.E51K PROZ_uc010agr.1_Missense_Mutation_p.E73K NM_003891 NP_003882 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma 51 Gla. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) AGAACTCTTCGAGGGAAACTT 0.458 34 77 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19553804 19553804 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:19553804G>T uc001vuz.1 + 1 440 c.388G>T c.(388-390)GAG>TAG p.E130* POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 130 ovary(1) 1 CGCTTTCATGGAGCCGAGGTA 0.592 13 317 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19563531 19563531 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:19563531C>A uc001vuz.1 + 5 1097 c.1045C>A c.(1045-1047)CAT>AAT p.H349N POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 349 H -> R (in Ref. 1; AAS58868/AAS58871). ovary(1) 1 TGTTTCTAGTCATCATAATGT 0.353 15 174 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249222 20249222 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:20249222C>A uc010tku.1 + 1 741 c.741C>A c.(739-741)ACC>ACA p.T247T NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCCACATTACCATTGTGGTGC 0.438 9 104 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20296240 20296240 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:20296240T>A uc010tkv.1 + 1 633 c.633T>A c.(631-633)TTT>TTA p.F211L NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTGTGCTTTCTGGGGCTTC 0.517 9 63 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20444459 20444459 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:20444459G>T uc010tkx.1 + 1 782 c.782G>T c.(781-783)CGC>CTC p.R261L NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 261 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) GCGAAGGCCCGCTCCACATTG 0.463 15 38 --- --- --- --- PASS OR4K13 390433 broad.mit.edu 37 14 20502373 20502373 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:20502373G>T uc010tkz.1 - 1 545 c.545C>A c.(544-546)CCC>CAC p.P182H NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AATCACAAGGGGAAGGTCACA 0.473 5 84 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23874503 23874503 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:23874503C>G uc001wjv.2 - 5 498 c.431G>C c.(430-432)GGC>GCC p.G144A MYH6_uc010akp.1_Missense_Mutation_p.G144A NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 144 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCTCTTCTTGCCCCGGTAGGC 0.612 30 35 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23874944 23874944 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:23874944C>G uc001wjv.2 - 4 304 c.237G>C c.(235-237)CAG>CAC p.Q79H MYH6_uc010akp.1_Missense_Mutation_p.Q79H NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 79 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGGTGGGTTCTGCTGCAACA 0.602 17 85 --- --- --- --- PASS RABGGTA 5875 broad.mit.edu 37 14 24735655 24735655 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:24735655C>A uc001wof.2 - 15 1958 c.1536G>T c.(1534-1536)GAG>GAT p.E512D RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.E512D|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 512 LRR 4. visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) ACAGTAGCAGCTCCTGCAGCC 0.612 8 61 --- --- --- --- PASS FOXG1 2290 broad.mit.edu 37 14 29237355 29237355 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:29237355G>C uc001wqe.2 + 1 1069 c.870G>C c.(868-870)GCG>GCC p.A290A NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 290 FKRGAR -> AFRWCA (in Ref. 1; CAA52241). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) AGCGCGGTGCGCGCCTCACCT 0.716 6 37 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30100056 30100056 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:30100056T>A uc001wqh.2 - 10 1745 c.1564A>T c.(1564-1566)AGT>TGT p.S522C NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 522 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CCAACGCCACTGGTGAGAACA 0.502 51 48 --- --- --- --- PASS EGLN3 112399 broad.mit.edu 37 14 34419656 34419656 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:34419656C>A uc001wsa.3 - 1 629 c.303G>T c.(301-303)CTG>CTT p.L101L EGLN3_uc001wry.2_Intron|EGLN3_uc001wrz.2_Silent_p.L101L|EGLN3_uc001wsb.1_Silent_p.L101L NM_022073 NP_071356 Q9H6Z9 EGLN3_HUMAN egl nine homolog 3 101 apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding 0 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) AGTAGAGGACCAGCCTGTCGA 0.667 8 23 --- --- --- --- PASS EGLN3 112399 broad.mit.edu 37 14 34419657 34419657 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:34419657A>G uc001wsa.3 - 1 628 c.302T>C c.(301-303)CTG>CCG p.L101P EGLN3_uc001wry.2_Intron|EGLN3_uc001wrz.2_Missense_Mutation_p.L101P|EGLN3_uc001wsb.1_Missense_Mutation_p.L101P NM_022073 NP_071356 Q9H6Z9 EGLN3_HUMAN egl nine homolog 3 101 apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding 0 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) GTAGAGGACCAGCCTGTCGAT 0.667 9 22 --- --- --- --- PASS CFL2 1073 broad.mit.edu 37 14 35182474 35182474 + Silent SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:35182474T>C uc001wsg.3 - 2 438 c.297A>G c.(295-297)CTA>CTG p.L99L CFL2_uc010tpn.1_Silent_p.L82L|CFL2_uc001wsh.3_Silent_p.L99L|CFL2_uc001wsi.3_Intron|CFL2_uc001wsj.3_Intron NM_021914 NP_068733 Q9Y281 COF2_HUMAN cofilin 2 99 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(2) 2 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) ATATAAATACTAGGTCTTCTT 0.318 11 42 --- --- --- --- PASS KLHDC1 122773 broad.mit.edu 37 14 50201309 50201309 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:50201309G>A uc001www.2 + 10 854 c.826G>A c.(826-828)GAT>AAT p.D276N SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.D231N|KLHDC1_uc010tqh.1_Missense_Mutation_p.D191N NM_172193 NP_751943 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 276 Kelch 5. cytoplasm pancreas(1) 1 all_epithelial(31;0.00244)|Breast(41;0.00964) TATTGCAGGTGATGGTTGGAT 0.313 9 18 --- --- --- --- PASS SOS2 6655 broad.mit.edu 37 14 50626482 50626482 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:50626482C>T uc001wxs.3 - 10 1617 c.1519G>A c.(1519-1521)GAG>AAG p.E507K SOS2_uc010tql.1_Missense_Mutation_p.E474K|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.E195K NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 507 PH. 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 cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TGCTTGTGCTCACAAGTATCT 0.373 28 46 --- --- --- --- PASS SOS2 6655 broad.mit.edu 37 14 50671113 50671113 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:50671113C>A uc001wxs.3 - 2 200 c.102G>T c.(100-102)GTG>GTT p.V34V SOS2_uc010tql.1_Silent_p.V34V NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 34 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 cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) GAGTGGGATGCACTTGTTCCT 0.313 23 61 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51219373 51219373 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:51219373C>A uc001wym.2 - 21 5004 c.4813G>T c.(4813-4815)GAA>TAA p.E1605* NIN_uc001wyi.2_Nonsense_Mutation_p.E1605*|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Nonsense_Mutation_p.E892*|NIN_uc010tqp.1_Nonsense_Mutation_p.E1611*|NIN_uc001wyo.2_Nonsense_Mutation_p.E1605* NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1605 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TGCAGTTTTTCCTGGTTTTGA 0.333 T PDGFRB MPD 20 108 --- --- --- --- PASS DDHD1 80821 broad.mit.edu 37 14 53513567 53513567 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:53513567C>A uc001xai.2 - 13 2852 c.2622G>T c.(2620-2622)TTG>TTT p.L874F DDHD1_uc001xaj.2_Missense_Mutation_p.L853F|DDHD1_uc001xah.2_Missense_Mutation_p.L846F|DDHD1_uc001xag.2_Missense_Mutation_p.L428F NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 874 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) GGGCAACATCCAAGGATGACC 0.433 15 42 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60069930 60069930 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:60069930C>G uc001xen.1 - 7 2438 c.2229G>C c.(2227-2229)CAG>CAC p.Q743H RTN1_uc001xem.1_Missense_Mutation_p.Q323H|RTN1_uc001xek.1_Missense_Mutation_p.Q175H|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.Q160H NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 743 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TAGAACTTACCTGGTGCTTAA 0.318 8 18 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64606673 64606673 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:64606673C>T uc001xgm.2 + 80 15088 c.14858C>T c.(14857-14859)TCG>TTG p.S4953L SYNE2_uc001xgl.2_Missense_Mutation_p.S4953L|SYNE2_uc010apy.2_Missense_Mutation_p.S1338L|SYNE2_uc001xgn.2_5'UTR|SYNE2_uc001xgo.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4953 Spectrin 1.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AACAGAGATTCGGATCAGTTA 0.378 5 48 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68251916 68251916 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:68251916T>A uc001xka.2 - 19 3522 c.3383A>T c.(3382-3384)CAG>CTG p.Q1128L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.Q1128L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1128 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGTCTGGATCTGCACAGGGTG 0.597 3 35 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71568774 71568774 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:71568774A>T uc001xmo.2 + 31 6103 c.5657A>T c.(5656-5658)GAG>GTG p.E1886V PCNX_uc010are.1_Missense_Mutation_p.E1775V|PCNX_uc010arf.1_Missense_Mutation_p.E674V|PCNX_uc001xmp.2_5'UTR NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1886 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTATCTCATGAGAAGAACCTC 0.418 26 58 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 74971752 74971752 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:74971752C>T uc001xqa.2 - 29 4690 c.4303G>A c.(4303-4305)GAA>AAA p.E1435K NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1435 TB 3. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CAGCAGCATTCAGCCTGTGTG 0.662 21 27 --- --- --- --- PASS DLST 1743 broad.mit.edu 37 14 75366627 75366627 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:75366627G>A uc001xqv.2 + 12 966 c.903G>A c.(901-903)GTG>GTA p.V301V DLST_uc001xqu.2_Silent_p.V213V|DLST_uc001xqt.2_Silent_p.V217V|DLST_uc010tuw.1_Silent_p.V215V NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 301 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) CTCTCATAGTGATTGACGACA 0.448 6 47 --- --- --- --- PASS TTLL5 23093 broad.mit.edu 37 14 76286427 76286427 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:76286427C>T uc001xrx.2 + 28 3454 c.3249C>T c.(3247-3249)ATC>ATT p.I1083I TTLL5_uc010ask.1_Silent_p.I1098I|TTLL5_uc001xrz.2_Silent_p.I658I|TTLL5_uc001xsa.2_Silent_p.I157I NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1083 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) GACCCATCATCAGTCCTAGTG 0.517 23 24 --- --- --- --- PASS ANGEL1 23357 broad.mit.edu 37 14 77255657 77255657 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:77255657C>A uc001xsv.2 - 10 2040 c.1927G>T c.(1927-1929)GCT>TCT p.A643S uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 643 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CCATTGGCAGCCCAGAGTATC 0.577 29 71 --- --- --- --- PASS GTF2A1 2957 broad.mit.edu 37 14 81670361 81670361 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:81670361G>A uc001xvf.1 - 3 652 c.220C>T c.(220-222)CAT>TAT p.H74Y GTF2A1_uc010atb.1_Missense_Mutation_p.H24Y|GTF2A1_uc001xvg.1_Missense_Mutation_p.H35Y|GTF2A1_uc001xvh.1_Missense_Mutation_p.H35Y|SNORA79_uc001xvi.1_5'Flank NM_015859 NP_056943 P52655 TF2AA_HUMAN TFIIA alpha, p55 isoform 1 74 Poly-Gln. regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0287) tggggttgatgctgctgttga 0.234 14 6 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94046632 94046632 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:94046632G>T uc001ybv.1 + 16 2123 c.2040G>T c.(2038-2040)GAG>GAT p.E680D KIAA1409_uc001ybs.1_Missense_Mutation_p.E680D NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 857 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AAGCAATCGAGTGCAACTTAT 0.468 18 52 --- --- --- --- PASS SERPINA4 5267 broad.mit.edu 37 14 95033402 95033402 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:95033402G>T uc001ydk.2 + 3 811 c.745G>T c.(745-747)GAC>TAC p.D249Y SERPINA4_uc010avd.2_Missense_Mutation_p.D286Y|SERPINA4_uc001ydl.2_Missense_Mutation_p.D249Y NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 249 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) GATGCTGCAGGACCAGGAGCA 0.493 13 24 --- --- --- --- PASS SERPINA13 388007 broad.mit.edu 37 14 95109887 95109887 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:95109887C>A uc001ydt.2 + 3 924 c.836C>A c.(835-837)CCC>CAC p.P279H NR_015340 RecName: Full=Serpin A13; Flags: Precursor; lung(1)|skin(1) 2 GTGTGGGTGCCCATGATGAAG 0.582 15 24 --- --- --- --- PASS SERPINA13 388007 broad.mit.edu 37 14 95109888 95109888 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:95109888C>A uc001ydt.2 + 3 925 c.837C>A c.(835-837)CCC>CCA p.P279P NR_015340 RecName: Full=Serpin A13; Flags: Precursor; lung(1)|skin(1) 2 TGTGGGTGCCCATGATGAAGG 0.577 14 26 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96807901 96807901 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:96807901C>T uc001yfi.2 - 6 1247 c.882G>A c.(880-882)TTG>TTA p.L294L NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 294 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ACGTGAGACTCAACTCCAACC 0.388 14 45 --- --- --- --- PASS WARS 7453 broad.mit.edu 37 14 100808747 100808747 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:100808747C>A uc001yhf.1 - 8 1185 c.1101G>T c.(1099-1101)CAG>CAT p.Q367H WARS_uc001yhe.1_Missense_Mutation_p.Q173H|WARS_uc001yhg.1_Missense_Mutation_p.Q367H|WARS_uc001yhh.1_Missense_Mutation_p.Q367H|WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhj.1_Missense_Mutation_p.Q326H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 367 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TGGTTTTGATCTGCTTGGCCG 0.622 14 40 --- --- --- --- PASS WARS 7453 broad.mit.edu 37 14 100808790 100808790 + Missense_Mutation SNP C A A rs145597356 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:100808790C>A uc001yhf.1 - 8 1142 c.1058G>T c.(1057-1059)AGC>ATC p.S353I WARS_uc001yhe.1_Missense_Mutation_p.S159I|WARS_uc001yhg.1_Missense_Mutation_p.S353I|WARS_uc001yhh.1_Missense_Mutation_p.S353I|WARS_uc001yhi.1_Missense_Mutation_p.S312I|WARS_uc001yhj.1_Missense_Mutation_p.S312I|WARS_uc001yhk.1_Missense_Mutation_p.S312I|WARS_uc001yhl.1_Missense_Mutation_p.S353I NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 353 KMSKS region. angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) GTTGGGGTCGCTGGCACTCAT 0.612 42 44 --- --- --- --- PASS BEGAIN 57596 broad.mit.edu 37 14 101010249 101010249 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:101010249G>C uc010txa.1 - 4 443 c.297C>G c.(295-297)CTC>CTG p.L99L BEGAIN_uc001yhp.2_Silent_p.L35L|BEGAIN_uc001yhq.2_Silent_p.L99L NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 99 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) GATGGCTGTTGAGGGCAACAA 0.617 7 11 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103406189 103406189 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:103406189C>T uc001ymi.1 - 33 4919 c.4687G>A c.(4687-4689)GAA>AAA p.E1563K NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1563 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) AGTCTCTCTTCCTCTGGGACC 0.612 42 65 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103406192 103406192 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:103406192C>T uc001ymi.1 - 33 4916 c.4684G>A c.(4684-4686)GAG>AAG p.E1562K NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1562 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CTCTCTTCCTCTGGGACCTTG 0.617 42 68 --- --- --- --- PASS TDRD9 122402 broad.mit.edu 37 14 104470664 104470664 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:104470664G>C uc001yom.3 + 14 1603 c.1573G>C c.(1573-1575)GAG>CAG p.E525Q TDRD9_uc001yon.3_Missense_Mutation_p.E263Q NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 525 Helicase C-terminal. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) TGTTGTTCCTGAGATGTTGGT 0.323 4 12 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105410407 105410407 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:105410407T>C uc010axc.1 - 7 11501 c.11381A>G c.(11380-11382)AAG>AGG p.K3794R AHNAK2_uc001ypx.2_Missense_Mutation_p.K3694R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3794 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGTCACATCCTTGTCGGCCAG 0.582 100 179 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105414568 105414568 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:105414568G>C uc010axc.1 - 7 7340 c.7220C>G c.(7219-7221)CCC>CGC p.P2407R AHNAK2_uc001ypx.2_Missense_Mutation_p.P2307R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2407 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTGAAACTGGGCATCTGCAG 0.627 33 165 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106552558 106552558 + RNA SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:106552558C>A uc010tyt.1 - 1447 c.30277G>T Parts of antibodies, mostly variable regions. 0 CCAAGCCTCCCCCAGACTCCA 0.552 21 35 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106586427 106586427 + RNA SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:106586427C>T uc010tyt.1 - 1286 c.27803G>A uc001ysv.2_RNA Parts of antibodies, mostly variable regions. 0 AGCTGCACCTCACACTGGACA 0.517 28 105 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106725423 106725423 + RNA SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:106725423G>C uc010tyt.1 - 588 c.18124C>G Parts of antibodies, mostly variable regions. 0 TGAATCCAGAGGCTGCACAGG 0.577 23 101 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106815779 106815779 + RNA SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:106815779C>A uc010tyt.1 - 342 c.13380G>T Parts of antibodies, mostly variable regions. 0 TTTGCAGATACAGCGTGTTCT 0.498 23 108 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106926233 106926233 + RNA SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:106926233G>T uc010tyt.1 - 235 c.10322C>A uc010tyu.1_Intron Parts of antibodies, mostly variable regions. 0 TTCTCAGACTGTTCATTTGCA 0.488 17 136 --- --- --- --- PASS ARHGAP11B 89839 broad.mit.edu 37 15 30919108 30919108 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:30919108C>T uc001zet.1 + 1 230 c.85C>T c.(85-87)CAG>TAG p.Q29* ARHGAP11B_uc010azv.1_Intron|ARHGAP11B_uc001zeu.2_RNA NM_001039841 NP_001034930 Q3KRB8 RHGBB_HUMAN Rho GTPase activating protein 11B 29 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) TGTCCGTGGGCAGTGCGATCG 0.502 4 18 --- --- --- --- PASS ARHGAP11A 9824 broad.mit.edu 37 15 32929102 32929102 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:32929102G>C uc001zgy.1 + 12 2850 c.2128G>C c.(2128-2130)GAT>CAT p.D710H ARHGAP11A_uc010ubw.1_Missense_Mutation_p.D521H|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.D521H NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 710 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TATGCCAAAAGATTATTTAAG 0.284 14 11 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33991934 33991934 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:33991934C>A uc001zhi.2 + 41 6349 c.6279C>A c.(6277-6279)TGC>TGA p.C2093* RYR3_uc010bar.2_Nonsense_Mutation_p.C2093* NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2093 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGCTGCTGCCGTTTCC 0.438 8 14 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34065783 34065783 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:34065783C>A uc001zhi.2 + 64 9174 c.9104C>A c.(9103-9105)TCC>TAC p.S3035Y RYR3_uc010bar.2_Missense_Mutation_p.S3035Y NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3035 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGCCTCTACTCCCTTGGGACG 0.388 8 18 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34131112 34131112 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:34131112G>T uc001zhi.2 + 89 13001 c.12931G>T c.(12931-12933)GAA>TAA p.E4311* RYR3_uc010bar.2_Nonsense_Mutation_p.E4306* NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4311 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGCAAGGATGAACCCCCTAC 0.453 16 30 --- --- --- --- PASS MEIS2 4212 broad.mit.edu 37 15 37187378 37187378 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:37187378T>A uc001zjr.2 - 11 2158 c.1121A>T c.(1120-1122)CAG>CTG p.Q374L MEIS2_uc001zjl.2_Missense_Mutation_p.Q361L|MEIS2_uc010ucj.1_Missense_Mutation_p.Q354L|MEIS2_uc001zjm.2_Missense_Mutation_p.Q279L|MEIS2_uc001zjn.2_Missense_Mutation_p.Q228L|MEIS2_uc001zjo.2_Missense_Mutation_p.Q374L|MEIS2_uc001zjp.2_Missense_Mutation_p.Q367L|MEIS2_uc001zjs.2_Missense_Mutation_p.Q367L|MEIS2_uc001zju.2_Missense_Mutation_p.Q354L|MEIS2_uc001zjt.2_Missense_Mutation_p.Q367L|MEIS2_uc001zjj.2_Missense_Mutation_p.Q70L|MEIS2_uc001zjk.2_Missense_Mutation_p.Q63L NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 374 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) CATGTGTTGCTGACCATCCAA 0.562 27 39 --- --- --- --- PASS MEIS2 4212 broad.mit.edu 37 15 37390191 37390191 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:37390191C>A uc001zjr.2 - 2 1259 c.222G>T c.(220-222)AAG>AAT p.K74N MEIS2_uc001zjl.2_Missense_Mutation_p.K61N|MEIS2_uc010ucj.1_Missense_Mutation_p.K61N|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.K74N|MEIS2_uc001zjp.2_Missense_Mutation_p.K74N|MEIS2_uc001zjs.2_Missense_Mutation_p.K74N|MEIS2_uc001zju.2_Missense_Mutation_p.K61N|MEIS2_uc001zjt.2_Missense_Mutation_p.K74N NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 74 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) CCTTGTCCCGCTTCAAGGCGT 0.627 7 14 --- --- --- --- PASS NDUFAF1 51103 broad.mit.edu 37 15 41680695 41680695 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:41680695G>C uc001znx.2 - 4 1167 c.785C>G c.(784-786)TCT>TGT p.S262C NDUFAF1_uc010bcf.2_RNA NM_016013 NP_057097 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 262 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding ovary(1) 1 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) TCCTCGATTAGAGAAGAAAAA 0.338 14 23 --- --- --- --- PASS PLA2G4F 255189 broad.mit.edu 37 15 42442310 42442310 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:42442310C>A uc001zoz.2 - 10 978 c.915G>T c.(913-915)GTG>GTT p.V305V PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Silent_p.V56V|PLA2G4F_uc001zpa.2_Silent_p.V56V|PLA2G4F_uc010bcs.2_Silent_p.V92V NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 305 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACCTCATTTCCACCTTCATGC 0.592 14 9 --- --- --- --- PASS ADAL 161823 broad.mit.edu 37 15 43641146 43641146 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:43641146G>A uc010udo.1 + 10 1168 c.594G>A c.(592-594)CTG>CTA p.L198L ADAL_uc001zrh.2_Silent_p.L225L|ADAL_uc001zri.1_Silent_p.L110L NM_001159280 NP_001152752 Q6DHV7 ADAL_HUMAN adenosine deaminase-like isoform 1 225 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding 0 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) TCCTGGATCTGCTTCCTGACA 0.458 25 26 --- --- --- --- PASS SLC27A2 11001 broad.mit.edu 37 15 50475061 50475061 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:50475061G>A uc001zxw.2 + 1 669 c.437G>A c.(436-438)TGC>TAC p.C146Y SLC27A2_uc010bes.2_Missense_Mutation_p.C146Y NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 146 Lumenal (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CTGCTGCACTGCTTCCAGTGC 0.662 41 44 --- --- --- --- PASS SCG3 29106 broad.mit.edu 37 15 51973991 51973991 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:51973991A>G uc002abh.2 + 1 447 c.39A>G c.(37-39)TTA>TTG p.L13L SCG3_uc010ufz.1_5'UTR NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 13 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) TTCTGGTGTTAGTGCTCCCGA 0.522 16 11 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54307002 54307002 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:54307002G>C uc002ack.2 + 1 1902 c.1902G>C c.(1900-1902)GTG>GTC p.V634V NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 634 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATGGCATGGTGTGTGCATCTG 0.458 38 57 --- --- --- --- PASS GCNT3 9245 broad.mit.edu 37 15 59910815 59910815 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:59910815A>G uc002age.2 + 3 827 c.378A>G c.(376-378)AAA>AAG p.K126K GCNT3_uc002agd.2_Silent_p.K126K NM_004751 NP_004742 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin 126 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1) 2 CACTGAGCAAAGAAGAGGTGG 0.468 21 30 --- --- --- --- PASS HCN4 10021 broad.mit.edu 37 15 73614857 73614857 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:73614857C>G uc002avp.2 - 8 4571 c.3577G>C c.(3577-3579)GAG>CAG p.E1193Q NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 1193 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) CGCACTGGCTCAGGCCTGGCC 0.458 6 4 --- --- --- --- PASS CCDC33 80125 broad.mit.edu 37 15 74574143 74574143 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:74574143G>A uc002axo.2 + 10 1442 c.1048G>A c.(1048-1050)GAT>AAT p.D350N CCDC33_uc002axp.2_Missense_Mutation_p.D172N NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 553 protein binding ovary(3)|skin(2) 5 AACTATCAATGATGAGGCCCC 0.592 40 37 --- --- --- --- PASS CRABP1 1381 broad.mit.edu 37 15 78635882 78635882 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:78635882G>T uc002bdp.2 + 3 396 c.291G>T c.(289-291)ACG>ACT p.T97T NM_004378 NP_004369 P29762 RABP1_HUMAN cellular retinoic acid binding protein 1 97 multicellular organismal development|signal transduction cytoplasm retinal binding|retinol binding|transporter activity 0 Alitretinoin(DB00523)|Etretinate(DB00926) TCCACTGCACGCAAACTCTTC 0.512 11 28 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79290512 79290512 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:79290512G>T uc002beq.2 - 20 3315 c.2940C>A c.(2938-2940)ATC>ATA p.I980I RASGRF1_uc002bep.2_Silent_p.I964I|RASGRF1_uc010blm.1_Silent_p.I889I|RASGRF1_uc002ber.3_Silent_p.I964I|RASGRF1_uc010unh.1_Silent_p.I375I|RASGRF1_uc002beo.2_Silent_p.I196I NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 982 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 CCAGGAAGCCGATCACCTTGC 0.557 13 36 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79750590 79750590 + Nonsense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:79750590A>T uc002bew.1 + 2 2176 c.2101A>T c.(2101-2103)AAA>TAA p.K701* KIAA1024_uc010unk.1_Nonsense_Mutation_p.K701* NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 701 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 GGCCTTAAAAAAAAGCCTCTT 0.552 48 80 --- --- --- --- PASS IL16 3603 broad.mit.edu 37 15 81578086 81578086 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:81578086T>A uc002bgh.3 + 10 1623 c.1247T>A c.(1246-1248)CTG>CAG p.L416Q IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.L416Q|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.L458Q|IL16_uc002bgg.2_Missense_Mutation_p.L416Q|IL16_uc002bgi.1_5'UTR NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 416 PDZ 2.|Interaction with GRIN2A. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GTGCACTGCCTGACGCTCAAT 0.502 39 26 --- --- --- --- PASS TMC3 342125 broad.mit.edu 37 15 81625278 81625278 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:81625278C>T uc002bgo.1 - 22 2785 c.2785G>A c.(2785-2787)GCA>ACA p.A929T TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 929 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 ACCCGGGATGCATATTGTCGC 0.522 15 24 --- --- --- --- PASS TMC3 342125 broad.mit.edu 37 15 81637256 81637256 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:81637256G>T uc002bgo.1 - 13 1369 c.1369C>A c.(1369-1371)CGG>AGG p.R457R TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.R457R NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 457 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 ATTCCAGGCCGAGATGTGGAC 0.478 7 27 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86697678 86697678 + Missense_Mutation SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:86697678A>C uc002blz.1 + 3 222 c.142A>C c.(142-144)AAG>CAG p.K48Q NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 48 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GATTGGACGGAAGGCCCTAGA 0.448 5 30 --- --- --- --- PASS MSLN 10232 broad.mit.edu 37 16 818700 818700 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:818700C>T uc002cjw.1 + 17 1911 c.1860C>T c.(1858-1860)GTC>GTT p.V620V MSLN_uc002cjt.1_Silent_p.V612V|MSLN_uc002cju.1_Silent_p.V612V|MSLN_uc010brd.1_Silent_p.V611V|MSLN_uc002cjv.1_Silent_p.V602V|MSLN_uc002cjx.1_Silent_p.V612V|MSLN_uc002cjy.1_Missense_Mutation_p.P305S|MIR662_hsa-mir-662|MI0003670_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 620 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) TTCTCACCGTCCTGGCACTGC 0.701 22 12 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2373534 2373534 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:2373534G>T uc002cpy.1 - 7 1315 c.603C>A c.(601-603)GGC>GGA p.G201G ABCA3_uc010bsk.1_Silent_p.G201G|ABCA3_uc010bsl.1_Silent_p.G201G|ABCA3_uc002cpz.1_Silent_p.G201G NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 201 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CAGGTTCTCCGCCATCAGGGG 0.532 116 110 --- --- --- --- PASS SEC14L5 9717 broad.mit.edu 37 16 5058478 5058478 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:5058478G>T uc002cye.2 + 14 1809 c.1629G>T c.(1627-1629)CTG>CTT p.L543L NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 543 GOLD. integral to membrane|intracellular transporter activity 0 TTGACATCCTGCGAGGGGACG 0.647 17 6 --- --- --- --- PASS NOMO1 23420 broad.mit.edu 37 16 14989462 14989462 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:14989462C>T uc002dcv.2 + 31 3695 c.3629C>T c.(3628-3630)GCA>GTA p.A1210V NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 1210 Cytoplasmic (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 CCAGAAGATGCAAAGAGACAA 0.582 71 177 --- --- --- --- PASS XYLT1 64131 broad.mit.edu 37 16 17202698 17202698 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:17202698C>A uc002dfa.2 - 12 2819 c.2734G>T c.(2734-2736)GGG>TGG p.G912W NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 912 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GTCCACATCCCGCCCACCAAC 0.682 10 12 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20329729 20329729 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:20329729C>T uc002dgv.2 - 8 1123 c.1040G>A c.(1039-1041)GGG>GAG p.G347E GP2_uc002dgw.2_Missense_Mutation_p.G344E|GP2_uc002dgx.2_Missense_Mutation_p.G200E|GP2_uc002dgy.2_Missense_Mutation_p.G197E NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 347 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 CTCTCCATTCCCGTCCACACT 0.473 29 154 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21093016 21093016 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:21093016G>A uc010vbe.1 - 20 2910 c.2910C>T c.(2908-2910)CCC>CCT p.P970P NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 970 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TCGTTTCGGTGGGCTTTATCT 0.368 14 108 --- --- --- --- PASS EEF2K 29904 broad.mit.edu 37 16 22260121 22260121 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:22260121C>G uc002dki.2 + 4 878 c.393C>G c.(391-393)ATC>ATG p.I131M EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 131 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) AAGTTCTGATCAAGATGGCAT 0.567 18 24 --- --- --- --- PASS TNRC6A 27327 broad.mit.edu 37 16 24802560 24802560 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:24802560G>T uc002dmm.2 + 6 2711 c.2597G>T c.(2596-2598)TGG>TTG p.W866L TNRC6A_uc010bxs.2_Missense_Mutation_p.W613L|TNRC6A_uc010vcc.1_Missense_Mutation_p.W613L|TNRC6A_uc002dmn.2_Missense_Mutation_p.W613L|TNRC6A_uc002dmo.2_Missense_Mutation_p.W613L NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 866 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) AATAACCATTGGGGTGAGGCC 0.463 20 19 --- --- --- --- PASS ARHGAP17 55114 broad.mit.edu 37 16 24953356 24953356 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:24953356C>A uc002dnb.2 - 16 1535 c.1442G>T c.(1441-1443)CGG>CTG p.R481L ARHGAP17_uc002dmz.2_5'Flank|ARHGAP17_uc002dna.2_Missense_Mutation_p.R208L|ARHGAP17_uc002dnc.2_Missense_Mutation_p.R481L|ARHGAP17_uc010vcf.1_Missense_Mutation_p.R302L NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 481 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) GCTAGCAGGCCGCTTCCTCTC 0.483 43 30 --- --- --- --- PASS C16orf82 162083 broad.mit.edu 37 16 27078550 27078550 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:27078550G>A uc010vcm.1 + 1 332 c.234G>A c.(232-234)AGG>AGA p.R78R NM_001145545 NP_001139017 Q7Z2V1 TNT_HUMAN hypothetical protein LOC162083 141 0 AGCACCCGAGGCCAGAGGAGG 0.647 3 3 --- --- --- --- PASS SPN 6693 broad.mit.edu 37 16 29675658 29675658 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:29675658C>A uc002dtm.2 + 2 745 c.609C>A c.(607-609)CCC>CCA p.P203P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Silent_p.P203P|SPN_uc010bzd.2_RNA NM_001030288 NP_001025459 P16150 LEUK_HUMAN sialophorin precursor 203 Extracellular (Potential). blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2) 2 CCACTGGACCCCCTGTTACCA 0.567 90 54 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31435470 31435470 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:31435470C>T uc002ebv.1 + 28 3256 c.3207C>T c.(3205-3207)TTC>TTT p.F1069F ITGAD_uc010cap.1_Silent_p.F1070F NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 1069 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 AAATTACGTTCGACACATCCG 0.557 7 33 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31435806 31435806 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:31435806G>A uc002ebv.1 + 29 3329 c.3280G>A c.(3280-3282)GAA>AAA p.E1094K ITGAD_uc010cap.1_Missense_Mutation_p.E1095K NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 1094 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 GGTGCTAGAAGAAGACGAGGT 0.542 11 22 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 16 33647500 33647500 + RNA SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:33647500C>A uc010vga.1 - 1 c.43G>T Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0002h. AGGGACCCCCCAGGCTGTACC 0.572 26 76 --- --- --- --- PASS NETO2 81831 broad.mit.edu 37 16 47117419 47117419 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:47117419C>A uc002eer.1 - 9 1676 c.1291G>T c.(1291-1293)GCC>TCC p.A431S NETO2_uc002eeq.1_Missense_Mutation_p.A166S|NETO2_uc010vgf.1_Missense_Mutation_p.A288S NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 431 Cytoplasmic (Potential). integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CAGCGGGAGGCGGTGGAGGAG 0.527 HNSCC(25;0.065) 20 36 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50746191 50746191 + Missense_Mutation SNP G T T rs5743279 byFrequency TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:50746191G>T uc002egm.1 + 4 2474 c.2369G>T c.(2368-2370)CGG>CTG p.R790L NOD2_uc010cbk.1_Missense_Mutation_p.R763L|NOD2_uc002egl.1_Missense_Mutation_p.R568L|NOD2_uc010cbl.1_Missense_Mutation_p.R568L|NOD2_uc010cbm.1_Missense_Mutation_p.R568L|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_RNA|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_RNA NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 790 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) CAGCACCTCCGGCGGCCCGTG 0.607 32 53 --- --- --- --- PASS CNOT1 23019 broad.mit.edu 37 16 58559117 58559117 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:58559117G>C uc002env.2 - 46 7043 c.6750C>G c.(6748-6750)ATC>ATG p.I2250M CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.I2245M|CNOT1_uc002ent.2_Missense_Mutation_p.I188M|CNOT1_uc010vik.1_Missense_Mutation_p.I1207M NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2250 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AATTCTGGAAGATATCCATGT 0.493 27 64 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61687817 61687817 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:61687817C>A uc002eog.1 - 12 2347 c.2095G>T c.(2095-2097)GAT>TAT p.D699Y NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 699 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGTTTAATATCCTTACGGGGT 0.428 20 75 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72153940 72153940 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:72153940C>G uc002fcc.3 - 20 3004 c.2832G>C c.(2830-2832)CTG>CTC p.L944L PMFBP1_uc002fcd.2_Silent_p.L939L|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.L814L NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 944 Potential. ovary(2) 2 Ovarian(137;0.179) TCTCCTTCTTCAGCTTCTTGT 0.537 25 56 --- --- --- --- PASS NUDT7 283927 broad.mit.edu 37 16 77769814 77769814 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:77769814C>A uc010chd.2 + 3 348 c.279C>A c.(277-279)GCC>GCA p.A93A NUDT7_uc010vnj.1_Intron NM_001105663 NP_001099133 P0C024 NUDT7_HUMAN nudix motif 7 93 Nudix hydrolase.|Nudix box. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding ovary(1)|kidney(1) 2 TCCGGGAAGCCCAGGAGGAAG 0.542 21 63 --- --- --- --- PASS VAT1L 57687 broad.mit.edu 37 16 77913097 77913097 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:77913097G>T uc002ffg.1 + 6 955 c.858G>T c.(856-858)AAG>AAT p.K286N NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 286 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 GAGAGACCAAGAGCTTCTTCA 0.368 25 84 --- --- --- --- PASS WWOX 51741 broad.mit.edu 37 16 79245630 79245630 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:79245630C>G uc002ffk.2 + 9 1307 c.1182C>G c.(1180-1182)GCC>GCG p.A394A WWOX_uc010vnk.1_Silent_p.A281A|WWOX_uc002ffl.2_Silent_p.A214A|WWOX_uc010che.2_Missense_Mutation_p.P179A NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 394 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) AAGAGACGGCCCGGACCCTGT 0.627 9 39 --- --- --- --- PASS KCNG4 93107 broad.mit.edu 37 16 84271026 84271026 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:84271026A>G uc010voc.1 - 2 187 c.66T>C c.(64-66)CCT>CCC p.P22P KCNG4_uc002fhu.1_Silent_p.P22P NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 22 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 GCTGACTCCAAGGGCTGTGGG 0.627 12 29 --- --- --- --- PASS BANP 54971 broad.mit.edu 37 16 88061218 88061218 + Nonsense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:88061218C>A uc002fkr.2 + 8 1222 c.998C>A c.(997-999)TCG>TAG p.S333* BANP_uc002fkp.2_Nonsense_Mutation_p.S303*|BANP_uc002fkq.2_Nonsense_Mutation_p.S303*|BANP_uc010vow.1_Nonsense_Mutation_p.S341*|BANP_uc002fks.3_Nonsense_Mutation_p.S302*|BANP_uc002fko.1_Nonsense_Mutation_p.S239*|BANP_uc010vov.1_Nonsense_Mutation_p.S308* NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b 334 Necessary and sufficient for TP53 activation (By similarity).|Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 BRCA - Breast invasive adenocarcinoma(80;0.00551) AAGAGCTTCTCGCGGAGAACG 0.677 17 41 --- --- --- --- PASS ZC3H18 124245 broad.mit.edu 37 16 88691009 88691009 + Splice_Site SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:88691009G>C uc002fky.2 + 12 2099 c.1899_splice c.e12-1 p.G633_splice ZC3H18_uc010voz.1_Splice_Site_p.G657_splice|ZC3H18_uc010chw.2_Splice_Site|ZC3H18_uc002fkz.2_5'Flank NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) CTGTCTCACAGAGAGAAGTCA 0.662 6 9 --- --- --- --- PASS MVD 4597 broad.mit.edu 37 16 88722558 88722558 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr16:88722558C>G uc002flg.1 - 5 565 c.558G>C c.(556-558)GTG>GTC p.V186V MVD_uc002flf.1_Silent_p.V55V NM_002461 NP_002452 P53602 MVD1_HUMAN diphosphomevalonate decarboxylase 186 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0478) ACTCGGGGGCCACTTGCCGAG 0.682 11 34 --- --- --- --- PASS PAFAH1B1 5048 broad.mit.edu 37 17 2541586 2541586 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:2541586G>T uc002fuw.3 + 2 572 c.4G>T c.(4-6)GTG>TTG p.V2L PAFAH1B1_uc010ckb.1_RNA NM_000430 NP_000421 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase, 2 Required for self-association and interaction with PAFAH1B2 and PAFAH1B3 (By similarity).|Interaction with NDEL1 (By similarity).|Interaction with NDE1 (By similarity). acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity skin(1) 1 AGCCAAGATGGTGCTGTCCCA 0.358 4 25 --- --- --- --- PASS SLC16A11 162515 broad.mit.edu 37 17 6946295 6946295 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:6946295G>T uc002gei.1 - 2 710 c.372C>A c.(370-372)TTC>TTA p.F124L NM_153357 NP_699188 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 124 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(1) 1 GATCGCTGGCGAAAGCCGAGA 0.687 6 7 --- --- --- --- PASS TMEM102 284114 broad.mit.edu 37 17 7339853 7339853 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:7339853C>G uc002ggx.1 + 3 828 c.555C>G c.(553-555)GAC>GAG p.D185E FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.D185E NM_178518 NP_848613 Q8N9M5 TM102_HUMAN transmembrane protein 102 185 Extracellular (Potential). regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding 0 Prostate(122;0.173) GTTCCAAGGACTGGCAAAGCT 0.582 24 42 --- --- --- --- PASS ODF4 146852 broad.mit.edu 37 17 8243550 8243550 + Missense_Mutation SNP C A A rs147153349 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:8243550C>A uc002gle.1 + 1 363 c.181C>A c.(181-183)CGC>AGC p.R61S NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 61 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1) 1 CTTGGGCCAGCGCCAGAACTC 0.592 12 22 --- --- --- --- PASS PIK3R5 23533 broad.mit.edu 37 17 8784233 8784233 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:8784233C>A uc002glt.2 - 18 2551 c.2484G>T c.(2482-2484)CAG>CAT p.Q828H PIK3R5_uc010vuz.1_Missense_Mutation_p.Q828H|PIK3R5_uc002glu.3_Missense_Mutation_p.Q442H NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 828 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 TGACTACACTCTGCAGGATCT 0.577 21 20 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10298521 10298521 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:10298521G>T uc002gmm.2 - 34 4986 c.4891C>A c.(4891-4893)CAG>AAG p.Q1631K uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1631 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TGGTTCAGCTGGATTTCCATT 0.468 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 31 71 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10302972 10302972 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:10302972C>A uc002gmm.2 - 28 3845 c.3750G>T c.(3748-3750)AAG>AAT p.K1250N uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1250 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 AGCGGCACATCTTTTCAAGGT 0.418 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 8 31 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10356530 10356530 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:10356530T>A uc002gmn.2 - 24 3161 c.3050A>T c.(3049-3051)GAG>GTG p.E1017V uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1017 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTTGTCCTCCTCCATCTGCAG 0.488 26 122 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10398576 10398576 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:10398576C>T uc002gmo.2 - 36 5322 c.5228G>A c.(5227-5229)GGA>GAA p.G1743E uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1743 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTCCATCTCTCCCTGGATTTG 0.453 30 57 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10404776 10404776 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:10404776C>G uc002gmo.2 - 27 3483 c.3389G>C c.(3388-3390)CGG>CCG p.R1130P uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1130 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CCGGGAGGCCCGCTCTGCCTC 0.567 19 8 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10432232 10432232 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:10432232C>A uc010coi.2 - 27 3647 c.3519G>T c.(3517-3519)CGG>CGT p.R1173R uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.R1173R|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1173 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 ACTCAGCCTCCCGCTTCTTGT 0.602 7 78 --- --- --- --- PASS TMEM220 388335 broad.mit.edu 37 17 10628381 10628381 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:10628381C>A uc002gmx.2 - 4 712 c.234G>T c.(232-234)GCG>GCT p.A78A TMEM220_uc002gmy.2_Silent_p.A68A NM_001004313 NP_001004313 Q6QAJ8 TM220_HUMAN transmembrane protein 220 78 Helical; (Potential). integral to membrane 0 AGAGGTAGGACGCCAAGCCAA 0.443 9 38 --- --- --- --- PASS TRPV2 51393 broad.mit.edu 37 17 16323463 16323463 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:16323463C>A uc002gpy.2 + 3 602 c.235C>A c.(235-237)CTC>ATC p.L79I TRPV2_uc002gpz.2_5'UTR NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, 79 Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 1. sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCGAGATCGGCTCTTCAATGC 0.572 30 55 --- --- --- --- PASS MAP2K3 5606 broad.mit.edu 37 17 21203906 21203906 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:21203906G>T uc002gys.2 + 4 480 c.215G>T c.(214-216)CGT>CTT p.R72L MAP2K3_uc002gyt.2_Missense_Mutation_p.R43L|MAP2K3_uc002gyu.2_Missense_Mutation_p.R43L NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 72 ATP (By similarity).|Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GAACTGGGCCGTGGAGCCTAT 0.602 4 12 --- --- --- --- PASS SEZ6 124925 broad.mit.edu 37 17 27306729 27306729 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:27306729G>A uc002hdp.2 - 3 1021 c.827C>T c.(826-828)TCT>TTT p.S276F SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.S276F|SEZ6_uc002hdq.1_Missense_Mutation_p.S151F|SEZ6_uc010crz.1_Missense_Mutation_p.S276F NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 276 Extracellular (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) AGGGTAGACAGAGATGTAGAA 0.547 28 13 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27869857 27869857 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:27869857C>T uc002hdz.1 + 20 3017 c.2823C>T c.(2821-2823)CCC>CCT p.P941P TAOK1_uc010wbe.1_Silent_p.P793P|TAOK1_uc010wbf.1_Silent_p.P941P NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 941 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) AAGGTGGACCCCAGCCATGGG 0.622 5 24 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29684054 29684054 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:29684054G>T uc002hgg.2 + 53 8148 c.7815G>T c.(7813-7815)TTG>TTT p.L2605F NF1_uc002hgh.2_Missense_Mutation_p.L2584F|NF1_uc010cso.2_Missense_Mutation_p.L793F|NF1_uc010wbt.1_Missense_Mutation_p.L83F|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2605 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATGTTCTCTTGGATGAAGAAG 0.418 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 18 84 --- --- --- --- PASS SLFN12 55106 broad.mit.edu 37 17 33738500 33738500 + Nonsense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:33738500T>A uc002hji.3 - 4 1971 c.1594A>T c.(1594-1596)AAA>TAA p.K532* SLFN12_uc002hjj.3_Nonsense_Mutation_p.K532*|SLFN12_uc010cts.2_Nonsense_Mutation_p.K532* NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 532 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAAAGGGCTTTCAGCAAGTAT 0.388 30 24 --- --- --- --- PASS GAS2L2 246176 broad.mit.edu 37 17 34072205 34072205 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:34072205T>A uc002hjv.1 - 6 2339 c.2311A>T c.(2311-2313)ATC>TTC p.I771F NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 771 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGCTTGTAGATGGACGGGACC 0.607 34 95 --- --- --- --- PASS GAS2L2 246176 broad.mit.edu 37 17 34072206 34072206 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:34072206G>C uc002hjv.1 - 6 2338 c.2310C>G c.(2308-2310)TCC>TCG p.S770S NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 770 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCTTGTAGATGGACGGGACCC 0.607 34 92 --- --- --- --- PASS TNS4 84951 broad.mit.edu 37 17 38638626 38638626 + Missense_Mutation SNP G C C rs142919679 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:38638626G>C uc010cxb.2 - 7 1708 c.1544C>G c.(1543-1545)TCG>TGG p.S515W TNS4_uc002huu.3_5'Flank NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 515 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TTTGGCAGACGACTCGATGAG 0.522 6 61 --- --- --- --- PASS KRT39 390792 broad.mit.edu 37 17 39116541 39116541 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:39116541C>T uc002hvo.1 - 6 1245 c.1209G>A c.(1207-1209)TCG>TCA p.S403S KRT39_uc010wfm.1_Silent_p.S136S NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 403 Coil 2.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) ACTTGCCATCCGAGCTCTCCA 0.468 15 55 --- --- --- --- PASS KRT40 125115 broad.mit.edu 37 17 39140113 39140113 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:39140113C>G uc010cxh.1 - 3 574 c.413G>C c.(412-414)CGT>CCT p.R138P KRT40_uc002hvq.1_RNA NM_182497 NP_872303 Q6A162 K1C40_HUMAN type I hair keratin KA36 138 Rod.|Coil 1B. intermediate filament structural molecule activity 0 Breast(137;0.00043) GTTGAAGTAACGCTGATAATC 0.483 85 48 --- --- --- --- PASS KRT36 8689 broad.mit.edu 37 17 39642717 39642717 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:39642717C>A uc002hwt.2 - 7 1315 c.1315G>T c.(1315-1317)GTT>TTT p.V439F NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 439 Tail. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) TGAGTGCCAACCTGGGGAGCC 0.622 10 26 --- --- --- --- PASS PTRF 284119 broad.mit.edu 37 17 40556972 40556972 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:40556972C>A uc002hzo.2 - 2 1065 c.906G>T c.(904-906)ACG>ACT p.T302T PTRF_uc010wgi.1_Silent_p.T284T NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 302 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CGTGGTCGGGCGTGAAGGATT 0.642 12 52 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41244070 41244070 + Nonsense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:41244070T>A uc002icq.2 - 10 3710 c.3478A>T c.(3478-3480)AAG>TAG p.K1160* BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Nonsense_Mutation_p.K1089*|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Nonsense_Mutation_p.K1113*|BRCA1_uc002ict.2_Nonsense_Mutation_p.K1160*|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Nonsense_Mutation_p.K1160*|BRCA1_uc002ide.1_Nonsense_Mutation_p.K991*|BRCA1_uc010cyy.1_Nonsense_Mutation_p.K1160*|BRCA1_uc010whs.1_Nonsense_Mutation_p.K1160*|BRCA1_uc010cyz.2_Nonsense_Mutation_p.K1113*|BRCA1_uc010cza.2_Nonsense_Mutation_p.K1134*|BRCA1_uc010wht.1_Nonsense_Mutation_p.K864* NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1160 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GTATCTTCCTTTATTTCACCA 0.398 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 10 84 --- --- --- --- PASS NBR1 4077 broad.mit.edu 37 17 41341074 41341074 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:41341074C>G uc010czd.2 + 7 558 c.418C>G c.(418-420)CCA>GCA p.P140A NBR1_uc010diz.2_Missense_Mutation_p.P140A|NBR1_uc010whu.1_Missense_Mutation_p.P140A|NBR1_uc010whv.1_Missense_Mutation_p.P140A|NBR1_uc010whw.1_Missense_Mutation_p.P119A|NBR1_uc010whx.1_5'Flank NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 140 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TCCACTTGTTCCATGTGACAC 0.448 5 67 --- --- --- --- PASS HOXB3 3213 broad.mit.edu 37 17 46628422 46628422 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:46628422C>A uc002inn.2 - 2 970 c.570G>T c.(568-570)CGG>CGT p.R190R HOXB3_uc010wlm.1_Silent_p.R117R|HOXB3_uc010dbf.2_Silent_p.R190R|HOXB3_uc010dbg.2_Silent_p.R190R|HOXB3_uc002ino.2_Silent_p.R190R|HOXB3_uc010wlk.1_Silent_p.R58R|HOXB3_uc010wll.1_Silent_p.R117R NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 190 Homeobox. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCGTCCGCGCCCGCTTGGACG 0.488 11 34 --- --- --- --- PASS HOXB6 3216 broad.mit.edu 37 17 46673923 46673923 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:46673923C>A uc002ins.1 - 4 852 c.527G>T c.(526-528)CGC>CTC p.R176L HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Missense_Mutation_p.R176L|HOXB6_uc002int.1_3'UTR NM_018952 NP_061825 P17509 HXB6_HUMAN homeobox B6 176 Homeobox. anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GATCTCGATGCGCCGCCGCCG 0.607 45 27 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51900869 51900869 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:51900869C>A uc002iua.2 + 1 631 c.475C>A c.(475-477)CAG>AAG p.Q159K uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 159 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACTGCAGGAGCAGCGGGAAAA 0.557 11 23 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901186 51901186 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:51901186C>A uc002iua.2 + 1 948 c.792C>A c.(790-792)TTC>TTA p.F264L uc010wna.1_Intron NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 264 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACCAGACCTTCTGCTTCGACC 0.557 15 19 --- --- --- --- PASS MSI2 124540 broad.mit.edu 37 17 55693342 55693342 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:55693342G>C uc002iuz.1 + 9 722 c.549G>C c.(547-549)AAG>AAC p.K183N MSI2_uc010wnm.1_Missense_Mutation_p.K161N|MSI2_uc002iva.2_Missense_Mutation_p.K179N NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN musashi 2 isoform a 183 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|pancreas(1) 2 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) TAGAATGTAAGAAAGCTCAGC 0.483 T HOXA9 CML 22 19 --- --- --- --- PASS MKS1 54903 broad.mit.edu 37 17 56293532 56293532 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:56293532G>A uc002ivr.1 - 4 409 c.334C>T c.(334-336)CTG>TTG p.L112L MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Silent_p.L112L NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 112 cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 TCCAGCTTCAGGATCTCCTGA 0.428 22 27 --- --- --- --- PASS MARCH10 162333 broad.mit.edu 37 17 60814365 60814365 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:60814365G>T uc010ddr.2 - 6 1102 c.864C>A c.(862-864)AGC>AGA p.S288R MARCH10_uc002jag.3_Missense_Mutation_p.S288R|MARCH10_uc010dds.2_Missense_Mutation_p.S326R|MARCH10_uc002jah.2_Missense_Mutation_p.S287R|uc002jaj.1_RNA|uc002jak.2_RNA NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 288 ligase activity|zinc ion binding 0 CAGTGTCATCGCTTTCTCTTC 0.473 75 93 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62049739 62049739 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:62049739C>A uc002jds.1 - 2 442 c.365G>T c.(364-366)CGC>CTC p.R122L NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 122 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GATGGCCCCGCGCCTGACTAC 0.612 13 9 --- --- --- --- PASS ABCA8 10351 broad.mit.edu 37 17 66878019 66878019 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:66878019A>G uc002jhp.2 - 29 3990 c.3811T>C c.(3811-3813)TTC>CTC p.F1271L ABCA8_uc002jhq.2_Missense_Mutation_p.F1311L|ABCA8_uc010wqq.1_Missense_Mutation_p.F1306L NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1271 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CTAACACAGAAGGAGACATTT 0.483 24 30 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 66982358 66982358 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:66982358C>A uc002jhu.2 - 32 4298 c.4155G>T c.(4153-4155)GTG>GTT p.V1385V ABCA9_uc010dez.2_Silent_p.V1347V NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1385 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CGGCAGCGTACACCTCCAGGT 0.617 16 27 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 67029935 67029935 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:67029935A>T uc002jhu.2 - 9 1351 c.1208T>A c.(1207-1209)CTT>CAT p.L403H ABCA9_uc010dez.2_Missense_Mutation_p.L403H NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 403 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CAACATGAAAAGAGTAGCTAT 0.333 22 30 --- --- --- --- PASS GPR142 350383 broad.mit.edu 37 17 72368181 72368181 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:72368181G>T uc010wqy.1 + 4 831 c.831G>T c.(829-831)CGG>CGT p.R277R GPR142_uc010wqx.1_Silent_p.R189R NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 277 Cytoplasmic (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGACCCGCCGGGCCATTGCTG 0.657 4 9 --- --- --- --- PASS ENPP7 339221 broad.mit.edu 37 17 77704931 77704931 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:77704931G>C uc002jxa.2 + 1 50 c.30G>C c.(28-30)GTG>GTC p.V10V NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 10 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCCTCACTGTGGCTCTGGCCA 0.657 7 10 --- --- --- --- PASS ENPP7 339221 broad.mit.edu 37 17 77711788 77711788 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:77711788G>C uc002jxa.2 + 5 1340 c.1320G>C c.(1318-1320)AGG>AGC p.R440S NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 440 Helical; (Potential). negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCAGCAGCAGGCCCCTCCTCG 0.607 21 36 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78323667 78323667 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:78323667A>G uc002jyh.1 + 5 4491 c.4268A>G c.(4267-4269)CAG>CGG p.Q1423R NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTGTGGCTGCAGCAGTTTGAC 0.557 18 21 --- --- --- --- PASS SLC25A10 1468 broad.mit.edu 37 17 79686896 79686896 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:79686896C>G uc002kbi.2 + 10 827 c.741C>G c.(739-741)CTC>CTG p.L247L SLC25A10_uc010wut.1_Silent_p.L402L|SLC25A10_uc010dif.2_Silent_p.L256L|SLC25A10_uc010wuu.1_Silent_p.L201L NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; 247 Solcar 3. gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CAGCGAAGCTCGGGCCTCTGG 0.582 47 50 --- --- --- --- PASS KIAA0802 23255 broad.mit.edu 37 18 8819111 8819111 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:8819111G>A uc002knr.2 + 13 3152 c.3010G>A c.(3010-3012)GAA>AAA p.E1004K KIAA0802_uc002knq.2_Missense_Mutation_p.E963K|KIAA0802_uc002kns.2_Missense_Mutation_p.E344K NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1314 0 CATCCCGTTTGAAGACCGGCC 0.607 18 14 --- --- --- --- PASS OSBPL1A 114876 broad.mit.edu 37 18 21957471 21957471 + Silent SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:21957471A>T uc002kve.2 - 2 201 c.27T>A c.(25-27)CTT>CTA p.L9L NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 9 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CGTGATGGAGAAGCTGTTGCT 0.353 37 19 --- --- --- --- PASS DSG2 1829 broad.mit.edu 37 18 29099864 29099864 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:29099864G>C uc002kwu.3 + 3 368 c.180G>C c.(178-180)GAG>GAC p.E60D NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 60 Extracellular (Potential).|Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CTCTTCGGGAGGGAGAGGATC 0.463 65 52 --- --- --- --- PASS ELP2 55250 broad.mit.edu 37 18 33725955 33725955 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:33725955G>T uc002kzk.1 + 10 947 c.937G>T c.(937-939)GAT>TAT p.D313Y ELP2_uc010xcg.1_Missense_Mutation_p.D378Y|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.D287Y|ELP2_uc010xch.1_Missense_Mutation_p.D352Y|ELP2_uc002kzn.1_Missense_Mutation_p.D287Y|ELP2_uc002kzo.1_Missense_Mutation_p.D243Y NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 313 WD 6. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 TGCTTCCATGGATAAAACCAT 0.363 39 256 --- --- --- --- PASS RIT2 6014 broad.mit.edu 37 18 40503725 40503725 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:40503725C>G uc002lav.2 - 4 411 c.238G>C c.(238-240)GAA>CAA p.E80Q RIT2_uc010dnf.2_Missense_Mutation_p.E80Q NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 80 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 GCTGTGAATTCTGCCTGCAGG 0.383 282 67 --- --- --- --- PASS FECH 2235 broad.mit.edu 37 18 55247367 55247367 + Silent SNP G A A rs147500247 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:55247367G>A uc002lgq.3 - 2 249 c.132C>T c.(130-132)GCC>GCT p.A44A FECH_uc002lgp.3_Silent_p.A44A|FECH_uc002lgr.3_5'UTR NM_000140 NP_000131 P22830 HEMH_HUMAN ferrochelatase isoform b precursor 44 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1) 1 Colorectal(73;0.227) CTGTGGTGACGGCCGCTGCAG 0.507 5 17 --- --- --- --- PASS SERPINB12 89777 broad.mit.edu 37 18 61226897 61226897 + Nonsense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:61226897C>G uc010xen.1 + 3 330 c.330C>G c.(328-330)TAC>TAG p.Y110* SERPINB12_uc010xeo.1_Nonsense_Mutation_p.Y130* NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 110 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 AGACTGATTACACACTGAGTA 0.458 7 33 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61305083 61305083 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:61305083G>C uc002ljf.2 - 8 1129 c.1043C>G c.(1042-1044)GCT>GGT p.A348G SERPINB4_uc002lje.2_Missense_Mutation_p.A327G|SERPINB4_uc002ljg.2_Missense_Mutation_p.A348G NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 348 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 TACTACTACAGCGGTGGCAGC 0.468 9 15 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61305084 61305084 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:61305084C>T uc002ljf.2 - 8 1128 c.1042G>A c.(1042-1044)GCT>ACT p.A348T SERPINB4_uc002lje.2_Missense_Mutation_p.A327T|SERPINB4_uc002ljg.2_Missense_Mutation_p.A348T NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 348 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 ACTACTACAGCGGTGGCAGCT 0.468 8 15 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61306500 61306500 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:61306500G>T uc002ljf.2 - 7 773 c.687C>A c.(685-687)GCC>GCA p.A229A SERPINB4_uc002lje.2_Silent_p.A208A|SERPINB4_uc002ljg.2_Intron NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 229 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 CCAGGACCTTGGCCTGTACAT 0.398 10 23 --- --- --- --- PASS SERPINB7 8710 broad.mit.edu 37 18 61459629 61459629 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:61459629G>T uc002ljl.2 + 3 267 c.171G>T c.(169-171)TTG>TTT p.L57F SERPINB7_uc002ljm.2_Missense_Mutation_p.L57F|SERPINB7_uc010xet.1_Intron|SERPINB7_uc010dqg.2_Missense_Mutation_p.L57F NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 57 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) GTTTACAGTTGCTTCATGTTA 0.313 7 21 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70532107 70532107 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:70532107G>T uc002lkw.2 - 3 440 c.156C>A c.(154-156)ATC>ATA p.I52I NETO1_uc002lkx.1_Silent_p.I51I|NETO1_uc002lky.1_Silent_p.I52I|NETO1_uc002lkz.2_Silent_p.I51I NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 52 CUB 1.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GAGAGGTAAAGATACCTCCCT 0.423 7 31 --- --- --- --- PASS TSHZ1 10194 broad.mit.edu 37 18 72998837 72998837 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:72998837G>T uc002lly.2 + 2 1903 c.1340G>T c.(1339-1341)GGG>GTG p.G447V NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 492 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) TCTCCCGCGGGGTCCACGACT 0.607 8 35 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74622041 74622041 + Nonsense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:74622041C>T uc002lmi.2 + 15 2761 c.2563C>T c.(2563-2565)CAG>TAG p.Q855* ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 855 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TGTGGCTCCACAGGACCCTCT 0.512 15 54 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74622042 74622042 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:74622042A>T uc002lmi.2 + 15 2762 c.2564A>T c.(2563-2565)CAG>CTG p.Q855L ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 855 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GTGGCTCCACAGGACCCTCTG 0.512 15 54 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74631815 74631815 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:74631815G>T uc002lmi.2 + 20 3550 c.3352G>T c.(3352-3354)GAG>TAG p.E1118* ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1118 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TTTCACGGAGGAGGAGACAGC 0.532 10 68 --- --- --- --- PASS C18orf22 79863 broad.mit.edu 37 18 77794505 77794505 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr18:77794505G>T uc002lns.2 + 1 148 c.10G>T c.(10-12)GCG>TCG p.A4S TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.A4S|C18orf22_uc010dri.1_RNA NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 4 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) CATGTGGGCTGCGGCGGGCGG 0.751 3 4 --- --- --- --- PASS MIER2 54531 broad.mit.edu 37 19 313641 313641 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:313641A>G uc002lok.1 - 8 667 c.658T>C c.(658-660)TAC>CAC p.Y220H NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 220 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGTTCTCGTAGACTGCACAA 0.607 11 35 --- --- --- --- PASS ABCA7 10347 broad.mit.edu 37 19 1043053 1043053 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:1043053G>T uc002lqw.3 + 8 824 c.593G>T c.(592-594)CGC>CTC p.R198L ABCA7_uc010dsb.1_Missense_Mutation_p.R60L NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 198 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGCGCTGCGCAGCCTGGTG 0.667 5 18 --- --- --- --- PASS ABCA7 10347 broad.mit.edu 37 19 1056367 1056367 + Silent SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:1056367C>G uc002lqw.3 + 33 4686 c.4455C>G c.(4453-4455)GCC>GCG p.A1485A ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1485 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCATGGTGGCCTTTGTCAACC 0.612 6 20 --- --- --- --- PASS C19orf29 58509 broad.mit.edu 37 19 3611925 3611925 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:3611925C>A uc002lyh.2 - 10 2326 c.2273G>T c.(2272-2274)CGG>CTG p.R758L C19orf29_uc010xho.1_Missense_Mutation_p.R217L|C19orf29_uc010dtn.2_Missense_Mutation_p.R606L|C19orf29_uc002lyi.3_Missense_Mutation_p.R758L|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 758 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCGTCACCGCCGATAGCG 0.647 10 14 --- --- --- --- PASS ZNRF4 148066 broad.mit.edu 37 19 5456134 5456134 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:5456134C>T uc002mca.3 + 1 709 c.632C>T c.(631-633)TCA>TTA p.S211L NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 211 Extracellular (Potential).|PA. integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GCCATCCCCTCAGTGTTCGTG 0.677 11 43 --- --- --- --- PASS SAFB2 9667 broad.mit.edu 37 19 5622569 5622569 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:5622569T>A uc002mcd.2 - 1 370 c.158A>T c.(157-159)AAG>ATG p.K53M SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_Missense_Mutation_p.K53M|SAFB2_uc010xip.1_RNA NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 53 SAP. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CAGGACGCTCTTGTTGCCGCC 0.726 5 8 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8175984 8175984 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:8175984C>G uc002mjf.2 - 32 4189 c.4168G>C c.(4168-4170)GAG>CAG p.E1390Q NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1390 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 AAGCCCATCTCACATTCACAG 0.642 6 16 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9010658 9010658 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:9010658G>A uc002mkp.2 - 38 39207 c.39003C>T c.(39001-39003)CCC>CCT p.P13001P MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13003 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGTGGGGCTGGGGAGGGAGG 0.483 16 10 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9069470 9069470 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:9069470C>A uc002mkp.2 - 3 18180 c.17976G>T c.(17974-17976)GAG>GAT p.E5992D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5994 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAGTGAGTATCTCACCTGAGA 0.458 21 92 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9083474 9083474 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:9083474C>G uc002mkp.2 - 1 8545 c.8341G>C c.(8341-8343)GAG>CAG p.E2781Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2781 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GATGCCCTCTCAAGCCCAGCT 0.493 23 22 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10076996 10076996 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:10076996A>T uc002mmq.1 - 64 4862 c.4776T>A c.(4774-4776)TTT>TTA p.F1592L NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1592 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TCACGATCTCAAACTTCTTGT 0.557 27 16 --- --- --- --- PASS SLC44A2 57153 broad.mit.edu 37 19 10753987 10753987 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:10753987G>A uc002mpf.2 + 22 2186 c.2047G>A c.(2047-2049)GAG>AAG p.E683K SLC44A2_uc002mpe.3_Missense_Mutation_p.E681K|SLC44A2_uc002mpg.1_3'UTR|SLC44A2_uc002mph.2_Missense_Mutation_p.E232K|SLC44A2_uc002mpi.2_3'UTR NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 683 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CGGCTCGGCCGAGAGGCCTTA 0.607 3 8 --- --- --- --- PASS DNASE2 1777 broad.mit.edu 37 19 12989370 12989370 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:12989370G>T uc002mvn.1 - 5 681 c.535C>A c.(535-537)CCC>ACC p.P179T DNASE2_uc010xmr.1_Missense_Mutation_p.P124T NM_001375 NP_001366 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal precursor 179 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding 0 TAGACCCAGGGGTAGGTGTAG 0.547 Direct_reversal_of_damage 5 38 --- --- --- --- PASS SLC1A6 6511 broad.mit.edu 37 19 15072908 15072908 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:15072908C>G uc002naa.1 - 5 849 c.841G>C c.(841-843)GTC>CTC p.V281L SLC1A6_uc010dzu.1_Missense_Mutation_p.V281L|SLC1A6_uc010xod.1_Missense_Mutation_p.V217L|SLC1A6_uc002nab.2_Missense_Mutation_p.V281L|SLC1A6_uc002nac.2_Missense_Mutation_p.V281L NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 281 Helical; (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CCACCAATGACCAGCCCAAAG 0.562 36 36 --- --- --- --- PASS CCDC105 126402 broad.mit.edu 37 19 15133834 15133834 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:15133834G>A uc002nae.2 + 7 1502 c.1403G>A c.(1402-1404)CGG>CAG p.R468Q NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 468 microtubule cytoskeleton organization microtubule ovary(1) 1 CTGCGCCAGCGGCAACCGCAC 0.687 4 9 --- --- --- --- PASS OR10H5 284433 broad.mit.edu 37 19 15905716 15905716 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:15905716C>A uc010xos.1 + 1 858 c.858C>A c.(856-858)CTC>CTA p.L286L NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CACCCTTCCTCAGCCCCATCA 0.532 8 37 --- --- --- --- PASS MYO9B 4650 broad.mit.edu 37 19 17212909 17212909 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:17212909C>A uc010eak.2 + 2 534 c.382C>A c.(382-384)CAG>AAG p.Q128K MYO9B_uc002nfi.2_Missense_Mutation_p.Q128K|MYO9B_uc002nfj.1_Missense_Mutation_p.Q128K NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 128 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 GCTGGTGGCGCAGGCCACAGC 0.627 6 27 --- --- --- --- PASS B3GNT3 10331 broad.mit.edu 37 19 17922653 17922653 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:17922653G>A uc002nhk.1 + 3 926 c.841G>A c.(841-843)GCT>ACT p.A281T B3GNT3_uc002nhl.1_Missense_Mutation_p.A281T|B3GNT3_uc010ebd.1_Missense_Mutation_p.A281T|B3GNT3_uc010ebe.1_Missense_Mutation_p.A281T NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 281 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 CTTCACGGCCGCTGCCCTGCG 0.572 28 25 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22156135 22156135 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:22156135G>T uc002nqp.2 - 5 1550 c.1401C>A c.(1399-1401)ACC>ACA p.T467T ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GATAACTAAGGGTTGAGGACC 0.343 14 11 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31040208 31040208 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:31040208G>T uc002nsu.1 + 4 3820 c.3682G>T c.(3682-3684)GCA>TCA p.A1228S ZNF536_uc010edd.1_Missense_Mutation_p.A1228S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TTTATCCCAAGCACCGGAGAA 0.672 6 16 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31767965 31767965 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:31767965C>A uc002nsy.3 - 2 2799 c.2734G>T c.(2734-2736)GCC>TCC p.A912S NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 912 Homeobox; atypical. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CGGAGGCTGGCGGCAAACTGG 0.627 6 16 --- --- --- --- PASS CEBPA 1050 broad.mit.edu 37 19 33792245 33792245 + Nonstop_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:33792245C>G uc002nun.2 - 1 1186 c.1076G>C c.(1075-1077)TGA>TCA p.*359S LOC80054_uc002nuo.2_5'Flank NM_004364 NP_004355 P49715 CEBPA_HUMAN CCAAT/enhancer binding protein alpha 359 cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.?(5) haematopoietic_and_lymphoid_tissue(728)|lung(4)|stomach(1)|prostate(1) 734 Esophageal squamous(110;0.137) CCGCGCGCCTCACGCGCAGTT 0.706 Mis|N|F AML|MDS Acute_Myeloid_Leukemia_Familial_associated_with_CEBPA_germline_mutation 7 7 --- --- --- --- PASS PEPD 5184 broad.mit.edu 37 19 33984220 33984220 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:33984220C>A uc002nur.3 - 5 552 c.417G>T c.(415-417)CAG>CAT p.Q139H PEPD_uc010xrr.1_Missense_Mutation_p.Q139H|PEPD_uc010xrs.1_Missense_Mutation_p.Q75H NM_000285 NP_000276 P12955 PEPD_HUMAN prolidase isoform 1 139 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity ovary(2) 2 Esophageal squamous(110;0.137) CAGAGGGCTTCTGTGACGTCA 0.542 5 12 --- --- --- --- PASS HAUS5 23354 broad.mit.edu 37 19 36110360 36110360 + Missense_Mutation SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:36110360A>G uc002oam.1 + 14 1265 c.1214A>G c.(1213-1215)AAG>AGG p.K405R NM_015302 NP_056117 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 405 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle 0 CTGCTCATCAAGGGAAACTCG 0.642 4 15 --- --- --- --- PASS SARS2 54938 broad.mit.edu 37 19 39421117 39421117 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:39421117G>A uc002oka.2 - 1 420 c.260C>T c.(259-261)CCC>CTC p.P87L SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_Missense_Mutation_p.P87L|SARS2_uc002okb.2_Missense_Mutation_p.P87L|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Missense_Mutation_p.P87L|MRPS12_uc002okc.2_5'Flank|MRPS12_uc002okd.2_5'Flank|MRPS12_uc002oke.2_5'Flank NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor 87 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CACGATCGCGGGCAGGTCCGC 0.672 OREG0032101|OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 4 11 --- --- --- --- PASS SHKBP1 92799 broad.mit.edu 37 19 41083301 41083301 + Splice_Site SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:41083301G>T uc002oob.2 + 3 190 c.141_splice c.e3-1 p.S47_splice SHKBP1_uc002ooc.2_Splice_Site_p.S47_splice|SHKBP1_uc002ood.2_Splice_Site_p.S47_splice|SHKBP1_uc010xvl.1_Splice_Site|SHKBP1_uc002ooe.2_5'UTR|SHKBP1_uc002oof.2_5'Flank|SHKBP1_uc010xvm.1_5'Flank|SHKBP1_uc010xvn.1_5'Flank NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTTCCCTGCAGTCTTCTGAGC 0.617 5 16 --- --- --- --- PASS ADCK4 79934 broad.mit.edu 37 19 41220008 41220008 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:41220008G>A uc002oor.2 - 4 555 c.253C>T c.(253-255)CCT>TCT p.P85S ADCK4_uc002ooq.1_Missense_Mutation_p.P85S|ADCK4_uc002oos.2_Missense_Mutation_p.P85S|ITPKC_uc002oot.2_5'Flank NM_024876 NP_079152 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 isoform a 85 integral to membrane protein serine/threonine kinase activity 0 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CGGGAGGCAGGCACCTTGCGT 0.567 9 21 --- --- --- --- PASS PHLDB3 653583 broad.mit.edu 37 19 44001416 44001416 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:44001416C>A uc002own.3 - 6 938 c.679G>T c.(679-681)GAT>TAT p.D227Y PHLDB3_uc010eit.2_5'Flank|PHLDB3_uc002owo.2_Missense_Mutation_p.D227Y NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 227 Potential. 0 Prostate(69;0.0153) TGGGCCACATCCAGTTGTTCC 0.378 6 8 --- --- --- --- PASS PLAUR 5329 broad.mit.edu 37 19 44159726 44159726 + Splice_Site SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:44159726C>T uc002oxf.1 - 5 703 c.473_splice c.e5-1 p.G158_splice PLAUR_uc002oxd.1_Splice_Site_p.G158_splice|PLAUR_uc002oxe.1_Splice_Site_p.G153_splice|PLAUR_uc002oxg.1_Intron NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) TTTGGACGCCCTATGGGGGCC 0.517 7 17 --- --- --- --- PASS IRGC 56269 broad.mit.edu 37 19 44223323 44223323 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:44223323G>C uc002oxh.2 + 2 760 c.613G>C c.(613-615)GCC>CCC p.A205P NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 205 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) GCTGCGGGAGGCCGGCGTGGC 0.706 7 9 --- --- --- --- PASS ZNF222 7673 broad.mit.edu 37 19 44537160 44537160 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:44537160T>C uc002oyc.2 + 4 1516 c.1333T>C c.(1333-1335)TCA>CCA p.S445P ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.S485P|ZNF222_uc002oyd.2_Missense_Mutation_p.S391P NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) TATAATTTTATCAttattttt 0.224 9 18 --- --- --- --- PASS MYADM 91663 broad.mit.edu 37 19 54377402 54377402 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:54377402G>T uc002qcl.2 + 3 767 c.619G>T c.(619-621)GTG>TTG p.V207L MYADM_uc002qcm.2_Missense_Mutation_p.V207L|MYADM_uc002qcn.2_Missense_Mutation_p.V207L|MYADM_uc002qco.2_Missense_Mutation_p.V207L|MYADM_uc002qcp.2_Missense_Mutation_p.V207L NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 207 MARVEL 2.|Helical; (Potential). integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GGAGTGGTGCGTGGCGGTGTA 0.627 19 26 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54782788 54782788 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:54782788C>T uc002qfb.2 - 6 1100 c.834G>A c.(832-834)CAG>CAA p.Q278Q LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.Q278Q|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.Q278Q|LILRB2_uc010yet.1_Silent_p.Q162Q|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 278 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGAAGTTGGCCTGGGAGAGCC 0.637 6 19 --- --- --- --- PASS LILRA3 11026 broad.mit.edu 37 19 54803513 54803513 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:54803513G>C uc002qfd.2 - 3 376 c.311C>G c.(310-312)ACT>AGT p.T104S LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.T104S NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 104 Ig-like C2-type 1. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAGGCCTGCAGTGTGGCTGCC 0.607 4 25 --- --- --- --- PASS LILRA4 23547 broad.mit.edu 37 19 54848834 54848834 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:54848834G>A uc002qfj.2 - 5 846 c.789C>T c.(787-789)CTC>CTT p.L263L LILRA4_uc002qfi.2_Silent_p.L197L NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 263 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GGCGCTGGGGGAGGCCATCGG 0.657 4 15 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086444 55086444 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:55086444C>T uc002qgg.3 + 4 688 c.599C>T c.(598-600)TCG>TTG p.S200L LILRA2_uc010ern.2_Missense_Mutation_p.S200L|LILRA2_uc002qgf.2_Missense_Mutation_p.S200L|LILRA2_uc010yfe.1_Missense_Mutation_p.S200L|LILRA2_uc010yff.1_Missense_Mutation_p.S188L|LILRA2_uc010ero.2_Missense_Mutation_p.S188L|LILRA2_uc010yfg.1_Missense_Mutation_p.S200L NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 200 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GCTTATGACTCGAACTCTCCC 0.577 29 34 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701752 56701752 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:56701752G>T uc010ygh.1 - 4 932 c.932C>A c.(931-933)CCT>CAT p.P311H NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 311 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TTCTCCTTGAGGCTCTTCTTG 0.547 12 48 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57327351 57327351 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:57327351G>T uc002qnu.2 - 7 2810 c.2459C>A c.(2458-2460)GCT>GAT p.A820D ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A791D|PEG3_uc002qnv.2_Missense_Mutation_p.A820D|PEG3_uc002qnw.2_Missense_Mutation_p.A696D|PEG3_uc002qnx.2_Missense_Mutation_p.A694D|PEG3_uc010etr.2_Missense_Mutation_p.A820D NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 820 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GTTCCCTCCAGCACGAACTCT 0.463 26 47 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328094 57328094 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:57328094G>C uc002qnu.2 - 7 2067 c.1716C>G c.(1714-1716)TTC>TTG p.F572L ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.F543L|PEG3_uc002qnv.2_Missense_Mutation_p.F572L|PEG3_uc002qnw.2_Missense_Mutation_p.F448L|PEG3_uc002qnx.2_Missense_Mutation_p.F446L|PEG3_uc010etr.2_Missense_Mutation_p.F572L NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 572 C2H2-type 3. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AACTATGAAGGAAGGTTTCCT 0.388 6 32 --- --- --- --- PASS ZNF749 388567 broad.mit.edu 37 19 57955212 57955212 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:57955212G>A uc002qoq.2 + 3 950 c.696G>A c.(694-696)TTG>TTA p.L232L ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 232 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GTGGGGAATTGTTTAGGTACA 0.428 21 23 --- --- --- --- PASS ZNF530 348327 broad.mit.edu 37 19 58118382 58118382 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:58118382G>A uc002qpk.2 + 3 1709 c.1489G>A c.(1489-1491)GGG>AGG p.G497R ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 497 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CAGTGTATGTGGGAAATCTTT 0.428 22 25 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961250 1961250 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:1961250A>T uc010gaj.2 - 3 726 c.484T>A c.(484-486)TAT>AAT p.Y162N uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.Y162N|PDYN_uc010zpt.1_Missense_Mutation_p.Y7N NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 162 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 TCAGCGAGATAGAGTGTGCCA 0.597 41 34 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9401951 9401951 + Nonsense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:9401951C>G uc002wnf.2 + 25 2262 c.2126C>G c.(2125-2127)TCA>TGA p.S709* PLCB4_uc010gbw.1_Nonsense_Mutation_p.S709*|PLCB4_uc010gbx.2_Nonsense_Mutation_p.S721*|PLCB4_uc002wne.2_Nonsense_Mutation_p.S709*|PLCB4_uc002wnh.2_Nonsense_Mutation_p.S556* NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 709 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 CAGGTTATATCAGGTCAATTC 0.413 16 13 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20171995 20171995 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:20171995C>A uc002wru.2 + 15 1598 c.1522C>A c.(1522-1524)CTG>ATG p.L508M C20orf26_uc010zse.1_Missense_Mutation_p.L488M NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 508 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GGATGGAACACTGCTGCAGGC 0.358 11 16 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20621385 20621385 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:20621385T>A uc002wrz.2 - 6 653 c.510A>T c.(508-510)ACA>ACT p.T170T RALGAPA2_uc010zsg.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 170 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GTGTCTCCAGTGTGCAAGGGC 0.463 19 31 --- --- --- --- PASS PAX1 5075 broad.mit.edu 37 20 21687608 21687608 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:21687608C>A uc002wsj.2 + 2 873 c.819C>A c.(817-819)GTC>GTA p.V273V PAX1_uc010zsl.1_Silent_p.V273V|PAX1_uc010zsm.1_Silent_p.V249V NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 273 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 ACCCCGGGGTCCCGGGCACGG 0.677 6 11 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25456757 25456757 + Missense_Mutation SNP T G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:25456757T>G uc002wux.1 - 17 3244 c.3170A>C c.(3169-3171)GAC>GCC p.D1057A NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1057 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GGTTTCCATGTCATCCTTCTC 0.532 7 55 --- --- --- --- PASS C20orf160 140706 broad.mit.edu 37 20 30602789 30602789 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:30602789C>A uc002wxf.2 + 2 126 c.113C>A c.(112-114)CCC>CAC p.P38H NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 38 central_nervous_system(3)|ovary(1) 4 AGCCGCCGGCCCCTGCACTCG 0.637 10 42 --- --- --- --- PASS SUN5 140732 broad.mit.edu 37 20 31590677 31590677 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:31590677G>A uc002wyi.2 - 2 219 c.126C>T c.(124-126)TCC>TCT p.S42S NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 42 spermatogenesis skin(1) 1 TCATGTTTGGGGAGGTGTCCT 0.368 5 30 --- --- --- --- PASS BPIL1 80341 broad.mit.edu 37 20 31607502 31607502 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:31607502G>T uc002wyj.2 + 11 1220 c.1026G>T c.(1024-1026)GAG>GAT p.E342D NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 342 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 CCTTCGTGGAGGTCCTGGCCA 0.637 13 10 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31671497 31671497 + Missense_Mutation SNP C T T rs143050216 byFrequency TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:31671497C>T uc010zue.1 + 3 509 c.494C>T c.(493-495)GCG>GTG p.A165V NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 165 Gly-rich. cytoplasm|extracellular region lipid binding 0 GCCACTGGGGCGGTGGGCCCA 0.677 13 27 --- --- --- --- PASS C20orf71 128861 broad.mit.edu 37 20 31811649 31811649 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:31811649G>A uc002wyr.2 + 2 368 c.160G>A c.(160-162)GAA>AAA p.E54K C20orf71_uc002wys.2_Missense_Mutation_p.E54K NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium 54 extracellular region lipid binding ovary(1)|skin(1) 2 GCACAACGCAGAAAGCCGAAT 0.423 9 83 --- --- --- --- PASS C20orf114 92747 broad.mit.edu 37 20 31873902 31873902 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:31873902C>G uc002wyw.1 + 2 184 c.23C>G c.(22-24)ACC>AGC p.T8S C20orf114_uc010gej.1_Missense_Mutation_p.T8S NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 8 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 TGGACCTTCACCCTTCTCTGT 0.587 26 59 --- --- --- --- PASS RBM12 10137 broad.mit.edu 37 20 34242934 34242934 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:34242934C>A uc002xdq.2 - 3 543 c.311G>T c.(310-312)AGA>ATA p.R104I CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.R104I|RBM12_uc002xds.2_Missense_Mutation_p.R104I NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 104 nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TGGTCCTGATCTACTGGCATT 0.438 OREG0004046 type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 77 84 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 41306547 41306547 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:41306547C>A uc002xkg.2 - 7 1296 c.1112G>T c.(1111-1113)GGA>GTA p.G371V PTPRT_uc010ggj.2_Missense_Mutation_p.G371V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 371 Extracellular (Potential).|Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCTGGCGGTCCCGTACCCCC 0.547 22 100 --- --- --- --- PASS MYBL2 4605 broad.mit.edu 37 20 42315650 42315650 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:42315650C>T uc002xlb.1 + 5 653 c.438C>T c.(436-438)ATC>ATT p.I146I MYBL2_uc010zwj.1_Silent_p.I122I|MYBL2_uc002xla.1_Silent_p.I146I NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 146 HTH myb-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACCGCATCATCTGCGAGGCCC 0.627 11 24 --- --- --- --- PASS ACOT8 10005 broad.mit.edu 37 20 44483870 44483870 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:44483870G>C uc002xqa.1 - 2 271 c.190C>G c.(190-192)CTG>GTG p.L64V ACOT8_uc010zxe.1_Missense_Mutation_p.L64V|ACOT8_uc002xqc.1_Intron|ACOT8_uc010zxf.1_Intron|ZSWIM3_uc002xqd.2_5'Flank|ZSWIM3_uc010zxg.1_5'Flank NM_005469 NP_005460 O14734 ACOT8_HUMAN peroxisomal acyl-CoA thioesterase 1 isoform a 64 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GCAGCCACCAGGGCCTGGCCC 0.592 13 73 --- --- --- --- PASS ELMO2 63916 broad.mit.edu 37 20 45016067 45016067 + Missense_Mutation SNP C G G rs4992415 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:45016067C>G uc002xrt.1 - 8 645 c.435G>C c.(433-435)GAG>GAC p.E145D ELMO2_uc002xru.1_Missense_Mutation_p.E145D|ELMO2_uc010zxr.1_Missense_Mutation_p.E145D|ELMO2_uc010zxs.1_Intron|ELMO2_uc002xrw.2_5'Flank|ELMO2_uc002xrx.1_Missense_Mutation_p.E145D NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 145 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) ATGCCAGCATCTCACTGTAGC 0.468 17 24 --- --- --- --- PASS KCNB1 3745 broad.mit.edu 37 20 47990134 47990134 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:47990134C>T uc002xur.1 - 2 2127 c.1963G>A c.(1963-1965)GAG>AAG p.E655K KCNB1_uc002xus.1_Missense_Mutation_p.E655K NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 655 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTGGGGCTCTCGATGAAGAAA 0.567 17 56 --- --- --- --- PASS ZFP64 55734 broad.mit.edu 37 20 50776752 50776752 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:50776752G>A uc002xwl.2 - 5 1022 c.673C>T c.(673-675)CAC>TAC p.H225Y ZFP64_uc002xwk.2_Missense_Mutation_p.H225Y|ZFP64_uc002xwm.2_Missense_Mutation_p.H223Y|ZFP64_uc002xwn.2_Missense_Mutation_p.H171Y NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 225 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TCGTCCGAGTGGATCCTCAGG 0.617 47 51 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027043 55027043 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:55027043G>T uc002xxp.2 + 6 1036 c.811G>T c.(811-813)GCT>TCT p.A271S CASS4_uc002xxq.3_Missense_Mutation_p.A271S|CASS4_uc002xxr.2_Missense_Mutation_p.A271S|CASS4_uc010zze.1_Missense_Mutation_p.A217S|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 271 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 AAGGCCCCACGCTCTCCCCAG 0.507 25 27 --- --- --- --- PASS CTCFL 140690 broad.mit.edu 37 20 56099117 56099117 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:56099117C>A uc010gix.1 - 1 807 c.145G>T c.(145-147)GCC>TCC p.A49S CTCFL_uc010giw.1_Missense_Mutation_p.A49S|CTCFL_uc002xym.2_Missense_Mutation_p.A49S|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.A49S|CTCFL_uc010gjb.1_Missense_Mutation_p.A49S|CTCFL_uc010gjc.1_Missense_Mutation_p.A49S|CTCFL_uc010gjd.1_Missense_Mutation_p.A49S|CTCFL_uc010gje.2_Missense_Mutation_p.A49S|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.A49S|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.A49S|CTCFL_uc010gjk.1_Missense_Mutation_p.A49S|CTCFL_uc010gjl.1_Missense_Mutation_p.A49S NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 49 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GTACGCTCGGCCTCCAACTCA 0.577 79 121 --- --- --- --- PASS STX16 8675 broad.mit.edu 37 20 57242623 57242623 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:57242623A>G uc002xzi.2 + 3 957 c.222A>G c.(220-222)CCA>CCG p.P74P STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Silent_p.P57P|STX16_uc002xzm.2_Silent_p.P70P|STX16_uc002xzj.2_Silent_p.P53P|STX16_uc002xzl.2_5'UTR NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a 74 Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) CAAAACGGCCACCTCCTAAGT 0.418 10 33 --- --- --- --- PASS CDH4 1002 broad.mit.edu 37 20 60503462 60503462 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:60503462G>T uc002ybn.1 + 12 2000 c.1986G>T c.(1984-1986)TGG>TGT p.W662C CDH4_uc002ybp.1_Missense_Mutation_p.W588C NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 662 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGAAGAACTGGACCATCACCC 0.672 16 19 --- --- --- --- PASS C20orf200 253868 broad.mit.edu 37 20 61143700 61143700 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:61143700G>T uc002ycz.1 - 3 639 c.148C>A c.(148-150)CCA>ACA p.P50T C20orf200_uc002ycy.2_RNA NM_152757 NP_689970 hypothetical protein LOC253868 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) AGACCGGATGGTGTGGCCCCG 0.662 8 19 --- --- --- --- PASS MYT1 4661 broad.mit.edu 37 20 62842683 62842683 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr20:62842683C>T uc002yii.2 + 8 1780 c.1416C>T c.(1414-1416)ATC>ATT p.I472I MYT1_uc002yih.2_Silent_p.I174I|MYT1_uc002yij.2_Silent_p.I104I NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 472 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGGATAGGATCCCCCCAGAGA 0.587 36 56 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10910396 10910396 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:10910396G>T uc002yip.1 - 22 1728 c.1360C>A c.(1360-1362)CTT>ATT p.L454I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L436I|TPTE_uc002yir.1_Missense_Mutation_p.L416I|TPTE_uc010gkv.1_Missense_Mutation_p.L316I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 454 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATGTTATCAAGTACCTATGAA 0.318 12 87 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15554098 15554098 + Silent SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:15554098G>C uc002yjm.2 - 4 697 c.687C>G c.(685-687)GTC>GTG p.V229V LIPI_uc010gkw.1_Silent_p.V162V NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 208 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CAGAATGGATGACATCCACAA 0.403 3 19 --- --- --- --- PASS JAM2 58494 broad.mit.edu 37 21 27066164 27066164 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:27066164C>A uc002ylp.1 + 4 883 c.338C>A c.(337-339)GCC>GAC p.A113D JAM2_uc011ace.1_Missense_Mutation_p.A113D|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.A77D|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.A113D|JAM2_uc010gli.1_Missense_Mutation_p.A113D NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 113 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 GAAGTTAGTGCCCCATCTGAG 0.428 12 48 --- --- --- --- PASS GABPA 2551 broad.mit.edu 37 21 27141330 27141330 + Silent SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:27141330G>T uc002ylx.3 + 10 1679 c.1152G>T c.(1150-1152)GGG>GGT p.G384G GABPA_uc002yly.3_Silent_p.G384G NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 384 ETS. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 ATTACGATGGGGACATGATTT 0.348 14 57 --- --- --- --- PASS APP 351 broad.mit.edu 37 21 27372439 27372439 + Nonsense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:27372439G>C uc002ylz.2 - 7 1124 c.924C>G c.(922-924)TAC>TAG p.Y308* APP_uc010glk.2_Nonsense_Mutation_p.Y303*|APP_uc002yma.2_Nonsense_Mutation_p.Y308*|APP_uc011ach.1_Nonsense_Mutation_p.Y252*|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 308 Extracellular (Potential).|BPTI/Kunitz inhibitor. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) TCACATCAAAGTACCAGCGGG 0.532 4 13 --- --- --- --- PASS SON 6651 broad.mit.edu 37 21 34924260 34924260 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:34924260C>T uc002yse.1 + 3 2772 c.2723C>T c.(2722-2724)TCA>TTA p.S908L SON_uc002ysb.1_Missense_Mutation_p.S908L|SON_uc002ysc.2_Missense_Mutation_p.S908L|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 908 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 ATGTTGGGTTCAAAATCTCCT 0.473 7 15 --- --- --- --- PASS KRTAP10-4 386672 broad.mit.edu 37 21 45994747 45994747 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:45994747C>A uc002zfk.1 + 1 1142 c.1112C>A c.(1111-1113)CCC>CAC p.P371H C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 371 36 X 5 AA repeats of C-C-X(3). keratin filament 0 GTGTGCAGGCCCGCCTGCTGC 0.692 17 60 --- --- --- --- PASS COL18A1 80781 broad.mit.edu 37 21 46925829 46925829 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:46925829C>T uc011afs.1 + 37 4422 c.4401C>T c.(4399-4401)GCC>GCT p.A1467A COL18A1_uc002zhg.2_Silent_p.A1052A|COL18A1_uc002zhi.2_Silent_p.A1232A|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Silent_p.A33A|COL18A1_uc002zhk.2_5'Flank NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1470 Nonhelical region 11 (NC11). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TCTTCGTGGCCGAGCAGGAGG 0.657 6 26 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47836082 47836082 + Missense_Mutation SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:47836082A>T uc002zji.3 + 30 6357 c.6250A>T c.(6250-6252)ATG>TTG p.M2084L PCNT_uc002zjj.2_Missense_Mutation_p.M1966L NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2084 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GCTGTATTCCATGACCTTCCA 0.507 6 19 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47918562 47918562 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr21:47918562C>A uc002zjo.2 + 5 654 c.471C>A c.(469-471)CTC>CTA p.L157L DIP2A_uc011afy.1_Silent_p.L93L|DIP2A_uc011afz.1_Silent_p.L157L|DIP2A_uc002zjl.2_Silent_p.L157L|DIP2A_uc002zjm.2_Silent_p.L157L|DIP2A_uc010gql.2_Silent_p.L157L|DIP2A_uc002zjn.2_Silent_p.L157L NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 157 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CCACTCCGCTCCAGAGCCATT 0.592 15 74 --- --- --- --- PASS GAB4 128954 broad.mit.edu 37 22 17447154 17447154 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:17447154G>T uc002zlw.2 - 6 1232 c.1124C>A c.(1123-1125)GCA>GAA p.A375E GAB4_uc010gqs.1_3'UTR NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 375 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) ATCATCGCCTGCTTGCTTCAC 0.582 13 14 --- --- --- --- PASS CLDN5 7122 broad.mit.edu 37 22 19511547 19511547 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:19511547G>T uc002zpu.2 - 2 702 c.487C>A c.(487-489)CAG>AAG p.Q163K CLDN5_uc010grr.2_Missense_Mutation_p.Q163K NM_003277 NP_003268 O00501 CLD5_HUMAN claudin 5 78 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 Colorectal(54;0.0993) CGCGCCGCCTGCACCTCGGTG 0.697 10 8 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21096603 21096603 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:21096603G>A uc002zsz.3 - 32 3711 c.3480C>T c.(3478-3480)CCC>CCT p.P1160P NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1160 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ACATCCGGAGGGGACCCCAGC 0.587 OREG0026324 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 92 --- --- --- --- PASS CRKL 1399 broad.mit.edu 37 22 21288526 21288526 + Silent SNP A C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:21288526A>C uc002ztf.2 + 2 1280 c.771A>C c.(769-771)GCA>GCC p.A257A CRKL_uc002ztg.1_RNA NM_005207 NP_005198 P46109 CRKL_HUMAN v-crk sarcoma virus CT10 oncogene homolog 257 SH3 2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity 0 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) CTGCCTTGGCATTAGAGGTAA 0.393 15 41 --- --- --- --- PASS RTDR1 27156 broad.mit.edu 37 22 23401853 23401853 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:23401853C>A uc002zwt.2 - 7 992 c.834G>T c.(832-834)CTG>CTT p.L278L NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 278 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GCAGCAGCTCCAGGAGCAGGC 0.662 59 30 --- --- --- --- PASS GAS2L1 10634 broad.mit.edu 37 22 29707967 29707967 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:29707967C>T uc003afa.1 + 7 1726 c.1527C>T c.(1525-1527)CTC>CTT p.L509L GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.L509L|GAS2L1_uc003afd.1_Missense_Mutation_p.S509L|GAS2L1_uc003afe.1_Missense_Mutation_p.S509L NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 509 cell cycle arrest cytoplasm|cytoskeleton 0 CCCTGCAGCTCGACCCGCAGC 0.687 15 27 --- --- --- --- PASS NF2 4771 broad.mit.edu 37 22 30035098 30035098 + Nonsense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:30035098C>G uc003age.3 + 3 703 c.260C>G c.(259-261)TCA>TGA p.S87* NF2_uc003afy.3_Nonsense_Mutation_p.S87*|NF2_uc003afz.3_Intron|NF2_uc003agf.3_Nonsense_Mutation_p.S87*|NF2_uc003agb.3_Nonsense_Mutation_p.S10*|NF2_uc003agc.3_Nonsense_Mutation_p.S49*|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Nonsense_Mutation_p.S87*|NF2_uc003aga.3_Nonsense_Mutation_p.S45*|NF2_uc003agh.3_Intron|NF2_uc003agi.3_Intron|NF2_uc003agj.3_Nonsense_Mutation_p.S87*|NF2_uc003agk.3_Nonsense_Mutation_p.S49* NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 87 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.H84_F100del(1)|p.V86_Q111>E(1)|p.S87fs*36(1)|p.S87*(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 CATGATGTTTCAAAGGAAGAA 0.428 D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 34 17 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36691011 36691011 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:36691011C>A uc003apg.2 - 27 3828 c.3597G>T c.(3595-3597)GAG>GAT p.E1199D NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1199 Potential. 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 CCGCCAGCTCCTCCACGGCCT 0.647 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 89 44 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36692951 36692951 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:36692951C>A uc003apg.2 - 25 3441 c.3210G>T c.(3208-3210)CAG>CAT p.Q1070H NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1070 Potential. Missing (in MHA and SBS). 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 GCTCCGCGATCTGGGCCTGGA 0.677 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 11 31 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38130844 38130844 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:38130844G>A uc003atr.2 + 9 4772 c.4501G>A c.(4501-4503)GAG>AAG p.E1501K TRIOBP_uc003atu.2_Missense_Mutation_p.E1329K NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1501 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GCCCACTCATGAGCTCCCCAG 0.652 27 20 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38130997 38130997 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:38130997G>C uc003atr.2 + 9 4925 c.4654G>C c.(4654-4656)GAG>CAG p.E1552Q TRIOBP_uc003atu.2_Missense_Mutation_p.E1380Q NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1552 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GCGTGGCTCTGAGAGGCGACC 0.687 OREG0026548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 20 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38131246 38131246 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:38131246G>A uc003atr.2 + 9 5174 c.4903G>A c.(4903-4905)GAG>AAG p.E1635K TRIOBP_uc003atu.2_Missense_Mutation_p.E1463K NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1635 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) AGGCTGGGCCGAGGCCACCCC 0.657 OREG0026548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 14 --- --- --- --- PASS PDGFB 5155 broad.mit.edu 37 22 39629506 39629506 + Silent SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:39629506G>A uc003axf.2 - 3 1173 c.184C>T c.(184-186)CTG>TTG p.L62L PDGFB_uc003axe.2_Silent_p.L47L NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 62 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) GTCATGTTCAGGTCCAACTCG 0.627 T COL1A1 DFSP 17 19 --- --- --- --- PASS FAM116B 414918 broad.mit.edu 37 22 50750580 50750580 + Silent SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr22:50750580C>T uc011aru.1 - 21 1818 c.1746G>A c.(1744-1746)TTG>TTA p.L582L FAM116B_uc011arv.1_Silent_p.L582L NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN family with sequence similarity 116, member B 582 0 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGGAGGGCACAAGACAGCCT 0.657 5 13 --- --- --- --- PASS SHOX 6473 broad.mit.edu 37 X 591648 591648 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:591648G>C uc004cph.1 + 2 707 c.16G>C c.(16-18)GCT>CCT p.A6P SHOX_uc004cpi.2_Missense_Mutation_p.A6P NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 6 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGAGCTCACGGCTTTTGTATC 0.647 16 60 --- --- --- --- PASS CRLF2 64109 broad.mit.edu 37 X 1314965 1314965 + RNA SNP A T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:1314965A>T uc004cpm.1 - 6 c.878T>A Q9HC73 CRLF2_HUMAN Homo sapiens mRNA for IL-XR, complete cds. extracellular region|integral to membrane|plasma membrane receptor activity haematopoietic_and_lymphoid_tissue(7) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AAATTAAAATAAATTTGGACA 0.488 Mis|T P2RY8|IGH@ B-ALL|Downs associated ALL 13 32 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3241309 3241309 + Missense_Mutation SNP T G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:3241309T>G uc004crg.3 - 5 2574 c.2417A>C c.(2416-2418)AAA>ACA p.K806T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 806 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACTTGTGGTTTTAATCAATGG 0.478 35 20 --- --- --- --- PASS SCML2 10389 broad.mit.edu 37 X 18259479 18259479 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:18259479C>A uc004cyl.2 - 15 2152 c.1995G>T c.(1993-1995)CTG>CTT p.L665L SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_3'UTR|SCML2_uc011miz.1_3'UTR|SCML2_uc010nfc.2_3'UTR NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 665 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) TGAGTAGGAACAGAGCCTTCC 0.348 24 21 --- --- --- --- PASS GPR64 10149 broad.mit.edu 37 X 19024151 19024151 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:19024151C>G uc004cyx.2 - 22 1972 c.1808G>C c.(1807-1809)TGT>TCT p.C603S GPR64_uc004cyy.2_Missense_Mutation_p.C600S|GPR64_uc004cyz.2_Missense_Mutation_p.C589S|GPR64_uc004czb.2_Missense_Mutation_p.C603S|GPR64_uc004czc.2_Missense_Mutation_p.C587S|GPR64_uc004czd.2_Missense_Mutation_p.C579S|GPR64_uc004cze.2_Missense_Mutation_p.C573S|GPR64_uc004czf.2_Missense_Mutation_p.C565S|GPR64_uc004cza.2_Missense_Mutation_p.C581S|GPR64_uc004cyw.2_Missense_Mutation_p.C587S|GPR64_uc010nfj.2_Missense_Mutation_p.C484S NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 603 GPS.|Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TAGATGGCTACAGGTACAGAT 0.502 10 21 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29938136 29938136 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:29938136G>A uc004dby.2 + 8 1490 c.982G>A c.(982-984)GAC>AAC p.D328N NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 328 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GGAAGAAGGTGACTTGGGAAA 0.413 23 13 --- --- --- --- PASS MAGEB2 4113 broad.mit.edu 37 X 30236723 30236723 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:30236723T>A uc004dbz.2 + 2 129 c.26T>A c.(25-27)CTC>CAC p.L9H NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 9 protein binding ovary(1) 1 AAGAGTAAGCTCCGTGCCCGT 0.537 14 5 --- --- --- --- PASS CXorf59 286464 broad.mit.edu 37 X 36117869 36117869 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:36117869C>G uc004ddk.1 + 7 911 c.725C>G c.(724-726)TCT>TGT p.S242C NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 242 integral to membrane central_nervous_system(1) 1 TTCTTAAAGTCTTCCACTAAT 0.303 22 12 --- --- --- --- PASS CASK 8573 broad.mit.edu 37 X 41437649 41437649 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:41437649C>T uc004dfl.3 - 15 1493 c.1447G>A c.(1447-1449)GAG>AAG p.E483K CASK_uc004dfj.3_Missense_Mutation_p.E46K|CASK_uc004dfk.3_Missense_Mutation_p.E298K|CASK_uc004dfm.3_Missense_Mutation_p.E483K|CASK_uc004dfn.3_Missense_Mutation_p.E477K NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 483 cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity ovary(3)|lung(2)|stomach(1) 6 GTCACATTCTCCATATCCATG 0.438 12 8 --- --- --- --- PASS ZNF41 7592 broad.mit.edu 37 X 47307673 47307673 + Missense_Mutation SNP T G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:47307673T>G uc004dhs.3 - 4 1689 c.1622A>C c.(1621-1623)GAA>GCA p.E541A ZNF41_uc004dhu.3_Missense_Mutation_p.E533A|ZNF41_uc004dht.3_Missense_Mutation_p.E413A|ZNF41_uc004dhv.3_Missense_Mutation_p.E509A|ZNF41_uc004dhw.3_Missense_Mutation_p.E501A|ZNF41_uc004dhy.3_Missense_Mutation_p.E499A|ZNF41_uc004dhx.3_Missense_Mutation_p.E499A|ZNF41_uc011mlm.1_Missense_Mutation_p.E413A NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 541 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) CTTTCCACATTCTGTACATAT 0.428 29 8 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53661239 53661239 + Silent SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:53661239T>A uc004dsp.2 - 8 918 c.516A>T c.(514-516)GGA>GGT p.G172G NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 172 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CATTCTCCTTTCCACCCCAGC 0.299 12 15 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53661240 53661240 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:53661240C>A uc004dsp.2 - 8 917 c.515G>T c.(514-516)GGA>GTA p.G172V NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 172 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ATTCTCCTTTCCACCCCAGCT 0.294 11 15 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54823400 54823400 + Missense_Mutation SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:54823400G>C uc004dtj.2 - 2 262 c.232C>G c.(232-234)CTT>GTT p.L78V NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 78 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 ATAAAGGCAAGATGAGGCAGA 0.438 32 26 --- --- --- --- PASS ZC4H2 55906 broad.mit.edu 37 X 64141826 64141826 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:64141826C>A uc004dvu.2 - 2 184 c.96G>T c.(94-96)AAG>AAT p.K32N ZC4H2_uc004dvv.2_Missense_Mutation_p.K9N|ZC4H2_uc011mov.1_Missense_Mutation_p.K9N|ZC4H2_uc011mow.1_Missense_Mutation_p.K32N|ZC4H2_uc004dvw.1_Missense_Mutation_p.K32N NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 32 Potential. metal ion binding|protein binding ovary(1) 1 CAAACTCAGCCTTCAAACGAG 0.483 14 9 --- --- --- --- PASS EFNB1 1947 broad.mit.edu 37 X 68059886 68059886 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:68059886G>T uc004dxd.3 + 4 1363 c.583G>T c.(583-585)GCC>TCC p.A195S EFNB1_uc004dxe.2_Missense_Mutation_p.A195S NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 195 Extracellular (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 GGCCACACAGGCCCCTGGTAG 0.557 6 6 --- --- --- --- PASS OTUD6A 139562 broad.mit.edu 37 X 69282924 69282924 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:69282924G>T uc004dxu.1 + 1 584 c.550G>T c.(550-552)GAG>TAG p.E184* NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 184 OTU. lung(1)|skin(1) 2 GCACGTCGACGAGTTCCTGCC 0.602 16 5 --- --- --- --- PASS DGAT2L6 347516 broad.mit.edu 37 X 69424174 69424174 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:69424174T>A uc004dxx.1 + 6 764 c.667T>A c.(667-669)TAT>AAT p.Y223N NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 223 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1) 1 TGTCCCTTCATATTCCTTTGG 0.478 8 2 --- --- --- --- PASS FOXO4 4303 broad.mit.edu 37 X 70321014 70321014 + Missense_Mutation SNP C G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:70321014C>G uc004dys.1 + 2 1287 c.934C>G c.(934-936)CTC>GTC p.L312V FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.L257V NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 312 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) TGGGCTCAATCTCACCTCTTC 0.557 OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 7 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73047462 73047462 + RNA SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:73047462G>A uc004ebn.2 + 1 c.35423G>A XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 GAACGAGAAGGGGAAGGGGTA 0.393 13 16 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76938926 76938926 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:76938926C>A uc004ecp.3 - 9 2054 c.1822G>T c.(1822-1824)GTT>TTT p.V608F ATRX_uc004ecq.3_Missense_Mutation_p.V570F|ATRX_uc004eco.3_Missense_Mutation_p.V393F|ATRX_uc004ecr.2_Missense_Mutation_p.V540F|ATRX_uc010nlx.1_Missense_Mutation_p.V579F|ATRX_uc010nly.1_Missense_Mutation_p.V553F NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 608 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TCTTGTGGAACTTCCTGACAA 0.358 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 71 75 --- --- --- --- PASS IL1RAPL2 26280 broad.mit.edu 37 X 104440226 104440226 + Missense_Mutation SNP T A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:104440226T>A uc004elz.1 + 3 908 c.152T>A c.(151-153)GTG>GAG p.V51E NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 51 Ig-like C2-type 1.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 CCAGTCCGAGTGAAATGTGCC 0.448 31 17 --- --- --- --- PASS GUCY2F 2986 broad.mit.edu 37 X 108636213 108636213 + Silent SNP A G G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:108636213A>G uc004eod.3 - 13 2772 c.2496T>C c.(2494-2496)TCT>TCC p.S832S GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 832 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 CCAAGTTGCTAGAATATTGCT 0.373 84 35 --- --- --- --- PASS GPC3 2719 broad.mit.edu 37 X 132887889 132887889 + Nonsense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:132887889G>A uc004exe.1 - 3 842 c.652C>T c.(652-654)CAG>TAG p.Q218* GPC3_uc004exd.1_Nonsense_Mutation_p.Q90*|GPC3_uc010nrn.1_Nonsense_Mutation_p.Q218*|GPC3_uc011mvh.1_Nonsense_Mutation_p.Q202*|GPC3_uc010nro.1_Nonsense_Mutation_p.Q164*|GPC3_uc010nrp.1_Nonsense_Mutation_p.Q90* NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 218 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) TTGGAAACCTGGGTCATAATA 0.473 T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 61 24 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140983082 140983082 + Missense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:140983082G>T uc011mwp.1 + 5 937 c.937G>T c.(937-939)GAT>TAT p.D313Y MAGEC3_uc004fbs.2_5'UTR|MAGEC3_uc010nsj.2_5'Flank NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 313 MAGE 1. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGGGTTCGCGGATGTGCTTTC 0.527 52 20 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995433 140995433 + Missense_Mutation SNP C T T rs149394425 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:140995433C>T uc004fbt.2 + 4 2529 c.2243C>T c.(2242-2244)TCC>TTC p.S748F MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 748 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGTATCTGCTCCTCCTCCACT 0.572 HNSCC(15;0.026) 30 119 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142795489 142795489 + Missense_Mutation SNP T C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:142795489T>C uc004fbz.2 - 2 943 c.189A>G c.(187-189)ATA>ATG p.I63M NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 63 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GATTTGAATTTATTTTCGTAT 0.438 65 34 --- --- --- --- PASS MIR514-1 574516 broad.mit.edu 37 X 146360837 146360837 + RNA SNP G C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:146360837G>C hsa-mir-514-1|MI0003198 - c.26G>C 0 TCACTCTCCAGAGTAGGGTAC 0.433 13 7 --- --- --- --- PASS GPR50 9248 broad.mit.edu 37 X 150349889 150349889 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:150349889C>T uc010ntg.1 + 2 1969 c.1834C>T c.(1834-1836)CCT>TCT p.P612S NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 612 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGAAGATGATCCTGATGAAAT 0.458 62 40 --- --- --- --- PASS PASD1 139135 broad.mit.edu 37 X 150842410 150842410 + Missense_Mutation SNP G A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:150842410G>A uc004fev.3 + 15 2259 c.1927G>A c.(1927-1929)GAG>AAG p.E643K NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 643 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTTTTATCCTGAGGCGTATCA 0.468 36 12 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150908073 150908073 + Missense_Mutation SNP C A A rs144004735 by1000genomes TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:150908073C>A uc004fey.1 + 4 467 c.243C>A c.(241-243)AAC>AAA p.N81K NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 81 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AATGGGCCAACAAGAATTTCC 0.517 26 4 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151821602 151821602 + Missense_Mutation SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:151821602C>A uc004ffp.1 + 9 1777 c.1757C>A c.(1756-1758)CCT>CAT p.P586H NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 586 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCCCCAAGCCCTGGGTGCTCC 0.532 35 8 --- --- --- --- PASS PNMA3 29944 broad.mit.edu 37 X 152225749 152225749 + Nonsense_Mutation SNP G T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:152225749G>T uc004fhc.2 + 2 673 c.337G>T c.(337-339)GAG>TAG p.E113* PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 113 apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) cttagaggaggagaggcggac 0.000 35 17 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153581667 153581667 + Missense_Mutation SNP C T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrX:153581667C>T uc004fkk.2 - 37 6268 c.6019G>A c.(6019-6021)GTG>ATG p.V2007M FLNA_uc004fki.2_Missense_Mutation_p.V50M|FLNA_uc011mzn.1_Missense_Mutation_p.V140M|FLNA_uc010nuu.1_Missense_Mutation_p.V1999M NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2007 Filamin 18. 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) CGCTTACCCACGTGGCCATTA 0.637 26 18 --- --- --- --- PASS TSPY1 7258 broad.mit.edu 37 Y 9305960 9305960 + Silent SNP C A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chrY:9305960C>A uc004frw.3 + 3 662 c.616C>A c.(616-618)CGG>AGG p.R206R TSPY1_uc004frx.3_Silent_p.R206R|TSPY1_uc010nwp.1_Intron NM_003308 NP_003299 Q01534 TSPY1_HUMAN testis specific protein, Y-linked 1 206 cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus identical protein binding 0 GTTGTTCTTTCGGAGTAACCC 0.478 34 142 --- --- --- --- PASS MEAF6 64769 broad.mit.edu 37 1 37961483 37961484 + Splice_Site INS - A A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr1:37961483_37961484insA uc001cbg.1 - 6 584 c.567_splice c.e6+1 p.A189_splice MEAF6_uc001cbd.1_Splice_Site_p.A167_splice|MEAF6_uc001cbe.1_Splice_Site_p.A199_splice|MEAF6_uc009vvd.1_Splice_Site|MEAF6_uc001cbf.1_Splice_Site NM_022756 NP_073593 Q9HAF1 EAF6_HUMAN MYST/Esa1-associated factor 6 histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus protein binding 0 GGCTGATACTTACAGCTCGTGG 0.371 47 21 --- --- --- --- Unknown 0 broad.mit.edu 37 5 33162897 33162897 + RNA DEL C - - TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:33162897delC uc003jhx.2 + 1 c.632delC full-length cDNA clone CS0DI021YI22 of Placenta Cot 25-normalized of Homo sapiens (human). AAAATCAAGGCCCGGAAAGGC 0.433 8 15 --- --- --- --- ITGA1 3672 broad.mit.edu 37 5 52157370 52157371 + Frame_Shift_Ins INS - T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:52157370_52157371insT uc003jou.2 + 3 324_325 c.272_273insT c.(271-273)CCTfs p.P91fs ITGA1_uc003jov.2_RNA NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 91 Extracellular (Potential).|FG-GAP 1. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GAATCATTACCTTGTGTAAAGT 0.292 27 13 --- --- --- --- SEC24A 10802 broad.mit.edu 37 5 134023936 134023945 + Frame_Shift_Del DEL GTCTTCAGGA - - TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr5:134023936_134023945delGTCTTCAGGA uc003kzs.2 + 11 1958_1967 c.1670_1679delGTCTTCAGGA c.(1669-1680)GGTCTTCAGGAAfs p.G557fs SEC24A_uc011cxu.1_Frame_Shift_Del_p.G321fs NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 557_560 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATTTCTACGGTCTTCAGGAAAGTCTCTCT 0.310 22 14 --- --- --- --- ZBTB24 9841 broad.mit.edu 37 6 109802814 109802816 + In_Frame_Del DEL GTT - - TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr6:109802814_109802816delGTT uc003ptl.1 - 2 582_584 c.414_416delAAC c.(412-417)ACAACT>ACT p.138_139TT>T ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_In_Frame_Del_p.138_139TT>T|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_In_Frame_Del_p.138_139TT>T NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 138_139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AGTGTTCAAAGTTGTTGGCTTTG 0.424 104 46 --- --- --- --- Unknown 0 broad.mit.edu 37 8 58144756 58144759 + RNA DEL ACAC - - rs72235980 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr8:58144756_58144759delACAC uc003xtf.2 + 8 c.1853_1856delACAC Homo sapiens mRNA; cDNA DKFZp434D1072 (from clone DKFZp434D1072). CCCGacacatacacacacacacac 0.275 4 4 --- --- --- --- ST8SIA6 338596 broad.mit.edu 37 10 17369069 17369070 + Frame_Shift_Ins INS - C C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr10:17369069_17369070insC uc001ipd.2 - 6 578_579 c.578_579insG c.(577-579)GGAfs p.G193fs ST8SIA6_uc010qce.1_Intron NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 193 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 TATTCAGAATTCCCCCATTTCC 0.391 41 20 --- --- --- --- NPAS3 64067 broad.mit.edu 37 14 34270285 34270285 + Frame_Shift_Del DEL G - - TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:34270285delG uc001wru.2 + 12 2836 c.2772delG c.(2770-2772)GCGfs p.A924fs NPAS3_uc001wrs.2_Frame_Shift_Del_p.A911fs|NPAS3_uc001wrt.2_Frame_Shift_Del_p.A892fs|NPAS3_uc001wrv.2_Frame_Shift_Del_p.A894fs NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 924 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GCATCCACGCGGCACAGACTC 0.667 6 3 --- --- --- --- OTX2 5015 broad.mit.edu 37 14 57272080 57272080 + Frame_Shift_Del DEL G - - TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:57272080delG uc001xcp.2 - 1 266 c.95delC c.(94-96)CCGfs p.P32fs OTX2_uc010aou.2_Frame_Shift_Del_p.P32fs|OTX2_uc001xcq.2_Frame_Shift_Del_p.P32fs NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 32 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TCACTTACCCGGGTAGCCCAC 0.597 22 10 --- --- --- --- Unknown 0 broad.mit.edu 37 14 98112583 98112584 + RNA INS - T T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr14:98112583_98112584insT uc001yfv.1 - 3 c.540_541insA human full-length cDNA clone CS0DI087YB20 of Placenta of Homo sapiens (human). AAGCTCTGTGGTTTTTTTTTCT 0.317 4 2 --- --- --- --- LOC646214 646214 broad.mit.edu 37 15 21935593 21935593 + RNA DEL A - - rs111463627 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr15:21935593delA uc010tzj.1 - 1 c.5147delT NR_027053 Homo sapiens mRNA for p21-activated kinase 2 variant protein. 0 AATGAAAAACAAAAAGAACAA 0.348 5 3 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578230 7578230 + Frame_Shift_Del DEL C - - TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr17:7578230delC uc002gim.2 - 6 813 c.619delG c.(619-621)GATfs p.D207fs TP53_uc002gig.1_Frame_Shift_Del_p.D207fs|TP53_uc002gih.2_Frame_Shift_Del_p.D207fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.D75fs|TP53_uc010cng.1_Frame_Shift_Del_p.D75fs|TP53_uc002gii.1_Frame_Shift_Del_p.D75fs|TP53_uc010cnh.1_Frame_Shift_Del_p.D207fs|TP53_uc010cni.1_Frame_Shift_Del_p.D207fs|TP53_uc002gij.2_Frame_Shift_Del_p.D207fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.D114fs|TP53_uc002gio.2_Frame_Shift_Del_p.D75fs|TP53_uc010vug.1_Frame_Shift_Del_p.D168fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 207 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). D -> E (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.D207fs*6(2)|p.D207G(2)|p.K164_P219del(1)|p.D207_R213delDDRNTFR(1)|p.D207A(1)|p.D207fs*2(1)|p.D207_V216del10(1)|p.D207D(1)|p.D207E(1)|p.D207Y(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTTCTGTCATCCAAATACTCC 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 17 --- --- --- --- ZNF787 126208 broad.mit.edu 37 19 56599438 56599440 + Splice_Site DEL TCG - - rs72029508 TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 108a1360-a545-4573-a775-49b3420814e2 1b748008-fc97-46f2-b9e4-1c21fa7ae544 g.chr19:56599438_56599440delTCG uc010eth.1 - 3 1219 c.1100_splice c.e3+1 p.E367_splice NM_001002836 NP_001002836 Q6DD87 ZN787_HUMAN zinc finger protein 787 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) GCCCGCGGCCTCGTCGTCGTCGT 0.631 2 4 --- --- --- ---